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Hirschsprung's

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https://www.readbyqxmd.com/read/29310717/characterization-of-glycosylphosphatidylinositol-biosynthesis-defects-by-clinical-features-flow-cytometry-and-automated-image-analysis
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
https://www.readbyqxmd.com/read/29280111/-choice-of-surgical-procedures-and-control-of-surgical-risks-in-chronic-constipation
#7
Jinke Sui, Wei Zhang
Surgery, as one of the methods for the treatment of chronic constipation, is the final choice after the failure of non-surgical treatment with its specific particularity. The history of surgical treatment of chronic constipation is complex and tortuous. How to select operation among many kinds of surgery, and control risk is difficult for clinician. The choice of surgical procedure depends mainly on the patient's conditions, the objective examination basis and the experience of physician teams. Based on the previous reports and the team's experience, this paper discusses the choice of surgical treatment for the following types of chronic constipation: (1) Slow transit constipation: subtotal colorectal resection plus ileorectal anastomosis or ascending colon rectum anastomosis is widely used at present in the domestic, and its efficacy is quite good...
December 25, 2017: Zhonghua Wei Chang Wai Ke za Zhi, Chinese Journal of Gastrointestinal Surgery
https://www.readbyqxmd.com/read/29275389/shah-waardenburg-syndrome-a-case-highlighting-the-importance-of-a-holistic-approach-to-assessing-a-child
#8
Amogh Patil, Lanka Prathyusha, Muganagowda Patil
We present the case of a 45-day-old child with the chief complaint of failure to pass stools for 10 days. After initial investigation, the patient was found to have Hirschsprung's disease. However, with further examination and analysis, the extremely rare diagnosis of type 4 Waardenburg syndrome was made (also known as Shah-Waardenburg syndrome or Waardenburg-Hirschsprung's disease).
December 22, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/29261189/ret-somatic-mutations-are-underrecognized-in-hirschsprung-disease
#9
Qian Jiang, Fang Liu, Chunyue Miao, Qi Li, Zhen Zhang, Ping Xiao, Lin Su, Kaihui Yu, Xiaoli Chen, Feng Zhang, Aravinda Chakravarti, Long Li
PurposeWe aimed to determine the frequency of RET mosaicism in Hirschsprung disease (HSCR), test whether it has been underestimated, and to assess its contribution to HSCR risk.MethodsTargeted exome sequencing (n = 83) and RET single-gene screening (n = 69) were performed. Amplicon-based deep sequencing was applied on multiple tissue samples. TA cloning and sequencing were conducted for validation.ResultsWe identified eight de novo mutations in 152 patients (5.2%), of which six were pathogenic mosaic mutations...
October 26, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29238171/a-5-year-follow-up-study-of-neonates-with-hirschsprung-s-disease-undergoing-transanal-soave-or-swenson-surgery
#10
Jianjun Zhang, Tongsheng Ma, Yuan Peng, Guangfeng Huang, Fengli Liu
Objective: To investigate different outcomes and long-term efficacy of transanal Soave or Swenson surgery in treatment for neonates with Hirschsprung's disease (HD). Methods: In the present study, a total of 29 neonatal patients were included, with 20 patients undergoing the Soave procedure and nine patients undergoing the Swenson procedure. Data collected from the patients included basic demographics, age and weight at the time of operation, pathological typing, type of operation, operative time, blood loss, length of hospital stay, bowel function, and complications...
2017: Patient Preference and Adherence
https://www.readbyqxmd.com/read/29224790/increased-expression-of-semaphorin-3a-in-the-endothelin-receptor-b-null-mouse-model-of-hirschsprung-disease
#11
Naho Fujiwara, Katsumi Miyahara, Nana Nakazawa-Tanaka, Chihiro Akazawa, Atsuyuki Yamataka
PURPOSE: Semaphorins are guidance cues for developing neurons, implicated in the determination of the migratory pathway of neural crest-derived neural precursors during enteric nervous system development. Recently, it has been reported that Semaphorin 3A (SEMA3A) expression is up-regulated in the aganglionic colon in Hirschsprung disease (HD) patients, suggesting that increased SEMA3A expression may be a risk factor for HD. Thus, the aim of our study was to determine the expression of SEMA3A using Sox10-Venus mice gut...
November 14, 2017: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/29223545/the-bowel-function-and-quality-of-life-of-hirschsprung-disease-patients-who-have-reached-18-years-of-age-or-older-the-long-term-outcomes-after-undergoing-the-transabdominal-soave-procedure
#12
Shun Onishi, Kazuhiko Nakame, Tatsuru Kaji, Masato Kawano, Tomoe Moriguchi, Koshiro Sugita, Keisuke Yano, Mioko Nomura, Koji Yamada, Waka Yamada, Ryuta Masuya, Takafumi Kawano, Seiro Machigashira, Motoi Mukai, Satoshi Ieiri
BACKGROUND/PURPOSE: Hirschsprung disease (HD) is considered curable, but the postoperative bowel function is not always satisfactory. In this study, we evaluated the general condition, bowel function, and social performance in adults who were older than 17years of age who had undergone definitive operations in childhood. METHOD: From 1984 to 2016, 110 patients with HD underwent definitive surgery at our institute. Sixty-three patients who had undergone the transabdominal Soave procedure reached 18years of age...
December 2017: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/29217941/intestinal-obstruction-in-early-neonatal-period-a-3-year-review-of-admitted-cases-from-a-tertiary-hospital-in-ethiopia
#13
Mustefa Mohammed, Tadesse Amezene, Moges Tamirat
Background: Failure to pass meconium by a full-term neonate within the first 24 hours should raise a suspicion of bowel obstruction. The objective of this study was to determine pattern of presentation, diagnosis and outcome of management of intestinal obstruction in the early neonatal period in the Neonatal Care Unit of Tikur Anbessa Specialized Hospital in Addis Ababa, Ethiopia. Methods: Retrospective chart review of admitted cases from January 2011 to December 2013 was done...
July 2017: Ethiopian Journal of Health Sciences
https://www.readbyqxmd.com/read/29212617/diagnostic-role-of-anal-sphincter-relaxation-integral-in-high-resolution-anorectal-manometry-for-hirschsprung-disease-in-infants
#14
Jia-Feng Wu, Cheng-Hsun Lu, Chia-Hsiang Yang, I-Jung Tsai
OBJECTIVE: To investigate the possible diagnostic role of anal sphincter relaxation integral (ASRI) in high-resolution anorectal manometry (HRAM) for Hirschsprung disease. STUDY DESIGN: We performed conventional anorectal manometry (ARM) in 24 infants (8 with Hirschsprung disease and 16 without Hirschsprung disease) and HRAM in another 21 infants (9 with Hirschsprung disease and 12 without Hirschsprung disease) before and after October 2014. All infants underwent rectal suction biopsy for confirmation of Hirschsprung disease...
December 4, 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/29212517/is-hematoxylin-eosin-staining-in-rectal-mucosal-and-submucosal-biopsies-still-useful-for-the-diagnosis-of-hirschsprung-disease
#15
Suellen Serafini, Maria Mercês Santos, Ana Cristina Aoun Tannuri, Maria Claudia Nogueira Zerbini, Maria Cecília de Mendonça Coelho, Josiane de Oliveira Gonçalves, Uenis Tannuri
BACKGROUND: Hematoxylin-eosin (HE) staining of a full-thickness rectal wall fragment is classically used for the diagnosis of Hirschsprung disease (HD). However, this technique requires large fragments for a better diagnosis. Additionally, the histochemical and immunohistochemical methods of staining small fragments of rectal mucosal and submucosal biopsies are not available in all centers. Therefore, the possibility of diagnosing HD through HE staining in these biopsies could be a valuable alternative for centers that do not have more specific techniques...
December 6, 2017: Diagnostic Pathology
https://www.readbyqxmd.com/read/29209677/laparoscopic-assisted-endorectal-pull-through-for-hirschsprung-s-disease-a-retrospective-study
#16
Xiaogang Li, Xiaoyun Li, Jun Cheng, Yongkang Zhang, Wei Zou, Fei Xie, Zhenggui Tao, Shaotao Tang, Mingguo Du, Xiaofeng Liao
OBJECTIVES: To summarize the efficacy of the laparoscopic-assisted transanal-endorectal pull-through procedure for Hirschsprung's disease (HD). METHODS: Between May 2006 and May 2013, 22 children with HD undergoing laparoscopic-assisted endorectal pull-through procedures were retrospectively analyzed. The operative time, pathology, intraoperative blood loss, recovery time for gastrointestinal function, postoperative hospital stay, complications, and defecation functions of the patients were analyzed...
December 2017: Saudi Medical Journal
https://www.readbyqxmd.com/read/29196262/collagen-vi-suppresses-fibronectin-induced-enteric-neural-crest-cell-migration-by-downregulation-of-focal-adhesion-proteins
#17
Shoichi Nishida, Hisayoshi Yoshizaki, Yoshitomo Yasui, Tsuyoshi Kuwahara, Etsuko Kiyokawa, Miyuki Kohno
The enteric nervous system (ENS) is a network of neurons and glia that are derived from enteric neural crest cells (ENCCs) and essential for regulating peristaltic activity of the colon. ENCCs migrate along the gastrointestinal tract to form the ENS, and disruption of ENCC motility leads to ENS disorders, such as Hirschsprung's disease. Previous ENCC-transplant experiments show that ENCCs can invade into isolated mouse intestines by age E13.5, but not after E15.5. We hypothesized that altered age-specific micro-environments in the intestine are responsible for ENCC invasion/migration...
January 1, 2018: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/29192291/kif1bp-loss-in-mice-leads-to-defects-in-the-peripheral-and-central-nervous-system-and-perinatal-death
#18
Caroline S Hirst, Lincon A Stamp, Annette J Bergner, Marlene M Hao, Mai X Tran, Jan M Morgan, Matthias Dutschmann, Andrew M Allen, George Paxinos, Teri M Furlong, Sonja J McKeown, Heather M Young
Goldberg-Shprintzen syndrome is a poorly understood condition characterized by learning difficulties, facial dysmorphism, microcephaly, and Hirschsprung disease. GOSHS is due to recessive mutations in KIAA1279, which encodes kinesin family member 1 binding protein (KIF1BP, also known as KBP). We examined the effects of inactivation of Kif1bp in mice. Mice lacking Kif1bp died shortly after birth, and exhibited smaller brains, olfactory bulbs and anterior commissures, and defects in the vagal and sympathetic innervation of the gut...
November 30, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29190183/a-long-term-follow-up-of-a-new-surgery-method-laparoscope-assisted-heart-shaped-anastomosis-for-hirschsprung-s-disease
#19
Chunlei Jiao, Donghai Yu, Dandan Li, Guo Wang, Jiexiong Feng
BACKGROUND: Laparoscopic surgery is widely used in the treatment of Hirschsprung's disease (HD). However, constipation and soiling are still the main long-term complications. A new type of anastomosis, which is characterized by a heart-shaped colorectal anastomosis after splitting the posterior rectum wall to 0.5 cm above the dentate line, has been improved by our medical center. The purpose of this study was to determine the long-term effects of laparoscope-assisted heart-shaped anastomosis (LHSA) and to compare it with a more generally applied approach, the laparoscope-assisted Soave procedure (LSP)...
November 30, 2017: Journal of Laparoendoscopic & Advanced Surgical Techniques. Part A
https://www.readbyqxmd.com/read/29180902/validation-of-algorithms-to-determine-incidence-of-hirschsprung-disease-in-ontario-canada-a-population-based-study-using-health-administrative-data
#20
Ahmed Nasr, Katrina J Sullivan, Emily W Chan, Coralie A Wong, Eric I Benchimol
Objective: Incidence rates of Hirschsprung disease (HD) vary by geographical region, yet no recent population-based estimate exists for Canada. The objective of our study was to validate and use health administrative data from Ontario, Canada to describe trends in incidence of HD between 1991 and 2013. Study design: To identify children with HD we tested algorithms consisting of a combination of diagnostic, procedural, and intervention codes against the reference standard of abstracted clinical charts from a tertiary pediatric hospital...
2017: Clinical Epidemiology
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