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Hirschsprung

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https://www.readbyqxmd.com/read/29678855/de-novo-sox10-nonsense-mutation-in-a-patient-with-kallmann-syndrome-deafness-iris-hypopigmentation-and-hyperthyroidism
#1
Fang Wang, Shaoli Zhao, Yanhong Xie, Wenjun Yang, Zhaohui Mo
Kallmann syndrome (KS) is a clinically and genetically heterogeneous disorder characterized by hypogonadotropic hypogonadism and olfactory dysfunction. Recently, mutations in SOX10, a well-known causative gene of Waardenburg syndrome (WS), have been identified in a few KS patients with additional developmental defects including hearing loss. However, the understanding of SOX10 mutation associates with KS and other clinical consequences remains fragmentary. A 30-year-old Chinese male patient presented with no pubertal sex development when he was at the age of twelve years...
March 2018: Annals of Clinical and Laboratory Science
https://www.readbyqxmd.com/read/29674606/hirschsprung-s-disease-related-giant-sigmoid-volvulus-complicated-by-refractory-hypertension-in-an-elderly-man
#2
Shaohan Wu, Xiaofang Sun, Yawei Yu, Yiyu Shen
BACKGROUND Sigmoid volvulus (SV) is a life-threatening condition occasionally seen in adults. Adult Hirschsprung's disease (HD)-related SV is rarely complicated by difficult-to-control hypertension. In this report we present the case of an elderly man with a rare constellation of HD, SV, and refractory hypertension. CASE REPORT An 82-year-old man had long-term constipation, moderate abdominal pain, and progressive abdominal distension. A CT scan revealed the typical "coffee bean sign". Blood pressure was abnormal high...
April 20, 2018: American Journal of Case Reports
https://www.readbyqxmd.com/read/29666241/muscularis-macrophage-development-in-the-absence-of-an-enteric-nervous-system
#3
Marina Avetisyan, Julia E Rood, Silvia Huerta Lopez, Rajarshi Sengupta, Elizabeth Wright-Jin, Joseph D Dougherty, Edward M Behrens, Robert O Heuckeroth
The nervous system of the bowel regulates the inflammatory phenotype of tissue resident muscularis macrophages (MM), and in adult mice, enteric neurons are the main local source of colony stimulating factor 1 (CSF1), a protein required for MM survival. Surprisingly, we find that during development MM colonize the bowel before enteric neurons. This calls into question the requirement for neuron-derived CSF1 for MM colonization of the bowel. To determine if intestinal innervation is required for MM development, we analyzed MM of neonatal Ret -/- ( Ret KO) mice that have no enteric nervous system in small bowel or colon...
April 17, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29652729/anorectal-manometry-may-reduce-the-number-of-rectal-suction-biopsy-procedures-needed-to-diagnose-hirschsprung-s-disease
#4
Rob J Meinds, Monika Trzpis, Paul M A Broens
OBJECTIVES: To evaluate whether anorectal manometry (ARM), which is used to test the rectoanal inhibitory reflex (RAIR), is a safe alternative for reducing the number of invasive rectal suction biopsy (RSB) procedures needed to diagnose Hirschsprung's disease (HD). METHODS: Between 2010 and 2017, we prospectively collected the ARM results of 105 patients suspected of having HD. Following the outcome, the patients either underwent additional tests to confirm HD or they were treated conservatively...
April 12, 2018: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/29652728/intestinal-microbiota-in-hirschsprung-disease
#5
Malla I Neuvonen, Katri Korpela, Kristiina Kyrklund, Risto J Rintala, Mikko P Pakarinen
OBJECTIVES: To characterize the microbiota profiles of patients with Hirschsprung's disease (HD), and to evaluate this in relation to postoperative bowel function and the incidence of Hirschsprung-associated enterocolitis (HAEC). METHODS: All patients operated on for HD at our center between 1987-2011 were invited to answer questionnaires on bowel function and to participate in a clinical follow-up for laboratory investigations, including fecal DNA extraction, fecal calprotectin (FC), and brush border lactase (LCT) genotyping...
April 12, 2018: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/29626357/aberrant-expression-of-lncrna-mir31hg-regulates-cell-migration-and-proliferation-by-affecting-mir-31-and-mir-31-in-hirschsprung-s-disease
#6
Peng Cai, Hongxing Li, Weiwei Huo, Hairong Zhu, Chao Xu, Rujin Zang, Wei Lv, Yankai Xia, Weibing Tang
Hirschsprung's disease (HSCR) is a birth defect that causes a failure of the enteric nervous system to cover the distal gut during early embryonic development. Evidence shows that long non-coding RNAs (lncRNA) play important roles in HSCR. The MIR31 host gene (MIR31HG), also known as Loc554202, is a long non-coding RNA (lncRNA), which acts as the host gene of (microRNA) miR-31 and miR-31*. There have been no studies regarding its function in early developmental defects during pregnancy, and its downstream genetic receptors...
April 6, 2018: Journal of Cellular Biochemistry
https://www.readbyqxmd.com/read/29622757/significance-of-neurexin-and-neuroligin-polymorphisms-in-regulating-risk-of-hirschsprung-s-disease
#7
Yanhong Li, Hui Liu, Yubin Dong
By performing a basic case-control study among a Chinese population, the aims of this study were to explore if single nucleotide polymorphisms (SNPs) within neurexin and neuroligin were associated with susceptibility to Hirschsprung's disease (HD). Eleven SNPs within neurexin and neuroligin were selected in this basic case-control study, and this study recruited 210 children with HD and 187 healthy children. The t-test and Χ2 test were used to find the difference between case and control in their clinical variables...
April 4, 2018: Journal of Investigative Medicine: the Official Publication of the American Federation for Clinical Research
https://www.readbyqxmd.com/read/29605259/gene-expression-profiling-coupled-with-connectivity-map-database-mining-reveals-potential-therapeutic-drugs-for-hirschsprung-disease
#8
Shang-Jie Xiao, Xiao-Chun Zhu, Hua Deng, Wei-Ping Zhou, Wen-Yi Yang, Li-Ke Yuan, Jiang-Yu Zhang, Song Tian, Lu Xu, Liang Zhang, Hui-Min Xia
BACKGROUND: Hirschsprung disease (HD) is a congenital intestinal anomaly resulting from a failure to form enteric ganglia in the lower bowel. Surgery is the main therapeutic strategy, although neural stem cell transplantation has recently shown promise. However, HD remains a challenging disorder to treat. Our aim was to identify drugs that could counteract the dysregulated pathways in HD and could thus be potential novel therapies. METHODS: We used microarray analysis to identify genes differentially expressed in ganglionic and aganglionic bowel samples from eight children with HD...
March 4, 2018: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/29601828/identification-of-variants-in-ret-and-ihh-pathway-members-in-a-large-family-with-history-of-hirschsprung-disease
#9
Y Sribudiani, R K Chauhan, M M Alves, L Petrova, E Brosens, C Harrison, T Wabbersen, B M de Graaf, T Rügenbrink, G Burzynski, R W W Brouwer, W F J van IJcken, S M Maas, A de Klein, J Osinga, B J L Eggen, A J Burns, A S Brooks, I T Shepherd, R M W Hofstra
BACKGROUND & AIMS: Hirschsprung disease (HSCR) is an inherited congenital disorder characterized by absence of enteric ganglia in the distal part of the gut. Variants in ret proto-oncogene (RET) have been associated with up to 50% of familial and 35% of sporadic cases. We searched for variants that affect disease risk in a large, multi-generational family with history of HSCR in a linkage region previously associated with the disease (4q31.3-q32.3) and exome wide. METHODS: We performed exome sequencing analyses of a family in the Netherlands with 5 members diagnosed with HSCR and 2 members diagnosed with functional constipation...
March 27, 2018: Gastroenterology
https://www.readbyqxmd.com/read/29600337/mutations-in-smad-interacting-protein-1-gene-are-responsible-for-absence-of-its-expression-in-hirschsprung-s-disease
#10
Wei Zhao, Shu-Cheng Zhang, Wen-Kai Huang, Xue-Li Li
Hirschsprung's disease (HSCR) is a common congenital malformation of the enteric nervous system. The pathophysiological basis remains unclear. Recently, the SIP1 gene has been recognized as being involved in the pathogenesis of symptomatic HSCR patients with 2q22 chromosomal rearrangement. In this study, mutations in SIP1 were analyzed to explore the relationship between SIP1 and HSCR. All exons of SIP1 were amplified and then analyzed by PCR-restriction fragment length polymorphism (PCR-RFLP) and DNA sequencing...
March 29, 2018: Clinical and Experimental Medicine
https://www.readbyqxmd.com/read/29596283/pediatric-sigmoid-volvulus
#11
Bennett Lee, Andrea Wu
Sigmoid volvulus is an extremely rare cause of abdominal pain in children. More commonly seen in older adults, an SV occurs when a redundant loop of sigmoid wraps around its elongated, narrow mesentery causing obstruction and ischemia to the affected bowel segment. Children usually present with abdominal pain, nausea, and abdominal distension. Presentations may be acute or chronic with a history of episodic constipation or abdominal distension. The treatment plan includes an initial reduction of the volvulus via sigmoidoscopy with rectal biopsy to rule out Hirschsprung disease; however, operative management to remove the dilated sigmoid colon may be required in the setting of recurrence or confirmed Hirschsprung disease...
March 28, 2018: Pediatric Emergency Care
https://www.readbyqxmd.com/read/29589457/-hirschsprungs-disease-in-adults-two-case-reports-and-review-of-the-literature
#12
R Škába, J Hoch, Z Jech, M Kynčl, V Campr
Hirschsprungs disease (HD) in adults is extremely rare, only three publications in Czech and Czechoslovak journals making reference to the condition after childhood. We present two cases of adult patients with HD. The first case is a 46-year-old male patient suffering from chronic constipation since childhood and diagnosed with megacolon at the age of 16; however, no further detailed diagnosis was done. At the age of 41, he developed a sigmoid perforation due to fecaloma and underwent urgent rectosigmoid resection and colostomy...
2018: Rozhledy V Chirurgii: Měsíčník Československé Chirurgické Společnosti
https://www.readbyqxmd.com/read/29588075/surgical-management-of-functional-constipation-an-intermediate-report-of-a-new-approach-using-a-laparoscopic-sigmoid-resection-combined-with-malone-appendicostomy
#13
Alessandra Gasior, Carlos Reck, Alejandra Vilanova-Sanchez, Karen A Diefenbach, Desalegn Yacob, Peter Lu, Karla Vaz, Carlo Di Lorenzo, Marc A Levitt, Richard J Wood
INTRODUCTION: We previously reported our surgical technique for functional constipation for patients who have failed medical management using a novel collaborative approach with gastroenterology input, pre-operative contrast enema, colonic manometry, and laxative protocol combined with a laparoscopic colonic resection with Malone appendicostomy. Now we report our intermediate outcomes. METHODS: Patients who failed bowel management program for functional constipation were reviewed from 3/2014-2/2017...
March 7, 2018: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/29566397/per-rectal-endoscopic-myotomy-prem-for-pediatric-hirschsprung-s-disease
#14
Amol Bapaye, Tarun Bharadwaj, Mahesh Mahadik, Sandeep Ware, Pankaj Nemade, Rajendra Pujari, Jay Bapaye
No abstract text is available yet for this article.
March 22, 2018: Endoscopy
https://www.readbyqxmd.com/read/29543374/long-term-outcome-and-quality-of-life-in-patients-with-total-colonic-aganglionosis-in-the-netherlands
#15
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
https://www.readbyqxmd.com/read/29532690/diagnostic-accuracy-of-combined-acetylcholinesterase-histochemistry-and-calretinin-immunohistochemistry-of-rectal-biopsy-specimens-in-hirschsprung-s-disease
#16
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
https://www.readbyqxmd.com/read/29493586/do-ret-somatic-mutations-play-a-role-in-hirschsprung-disease
#17
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
https://www.readbyqxmd.com/read/29492064/difference-of-efficacy-between-laparoscopic-modified-soave-operation-and-open-radical-resection-in-the-treatment-of-hirschsprung-s-disease
#18
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
https://www.readbyqxmd.com/read/29487487/hirschsprung-disease-beyond-infancy
#19
REVIEW
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
https://www.readbyqxmd.com/read/29484400/gli-family-zinc-finger-1-is-associated-with-endothelin-receptor-type-b-in-hirschsprung-disease
#20
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
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