4,752 results match your criteria Hirschsprung Disease


Whole Exome Sequencing Identifies a Novel Pathogenic RET Variant in Hirschsprung Disease.

Front Genet 2018 14;9:752. Epub 2019 Jan 14.

Department of General Surgery, Shanghai Children's Hospital, Shanghai Jiao Tong University, Shanghai, China.

Hirschsprung disease is a birth defect characterized by complete absence of neuronal ganglion cells from a portion of the intestinal tract. To uncover genetic variants contributing to HSCR, we performed whole exome sequencing on seven members of an HSCR family. With the minor allele frequency (MAF) calculated by gnomAD, we finally filtered a total of 1,059 rare variants in this family (MAF < 0. Read More

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http://dx.doi.org/10.3389/fgene.2018.00752DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6339922PMC
January 2019
1 Read

Experience with the Redo Pull-Through for Hirschsprung's Disease.

J Indian Assoc Pediatr Surg 2019 Jan-Mar;24(1):45-51

Department of Pediatric Surgery, All India Institute of Medical Sciences, New Delhi, India.

Aim: This study aims to evaluate the need of Redo pull-through (Re PT) procedures for Hirschsprung's disease (HD) and suggest preventive strategies.

Materials And Methods: Patients who underwent redo procedures for HD from 1980 to 2016 by a single surgeon were retrospectively reviewed.

Results: Of 167 patients operated for HD, 32 underwent Re PT; 7 were previously operated by the same surgeon, while 25 were referred from outside. Read More

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http://dx.doi.org/10.4103/jiaps.JIAPS_52_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6322179PMC
January 2019
1 Read

Association analysis of NOX5 polymorphisms with Hirschsprung disease.

J Pediatr Surg 2019 Jan 3. Epub 2019 Jan 3.

Department of Life Science, Sogang University, Seoul 04107, Republic of Korea; Research Institute for Basic Science, Sogang University, Seoul 04107, Republic of Korea. Electronic address:

Background/purpose: Hirschsprung disease (HSCR) is a developmental disease characterized by the absence of ganglion cells in the intestinal region. NADPH oxidase5 (NOX5) has been identified as one of the possible candidate genes for risk of Hirschsprung disease in our recent genome wide association study (GWAS). In this study, we performed a replication study to analyze the association of NOX5 polymorphisms with HSCR risk and conducted an extended analysis to investigate further associations for sub-groups and haplotypes. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S00223468183088
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http://dx.doi.org/10.1016/j.jpedsurg.2018.12.017DOI Listing
January 2019
1 Read

Urinary tract anomalies and urinary tract dysfunction in children with Hirschsprung disease-Is follow-up indicated?

J Pediatr Surg 2018 Dec 27. Epub 2018 Dec 27.

Department of Pediatric surgery, Skane University Hospital Lund, Institution of Clinical Sciences, Department of Pediatrics, 221 85 Lund, Sweden.

Background/purpose: Urinary tract function in children with Hirschsprung disease (HD) is rarely considered.

Aim: to evaluate the prevalence of urinary tract anomalies and dysfunction in children with HD compared to controls.

Methods: This was an observational cross sectional case-control study. Read More

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http://dx.doi.org/10.1016/j.jpedsurg.2018.12.006DOI Listing
December 2018
2 Reads

Gut microbiota-mediated Gene-Environment interaction in the TashT mouse model of Hirschsprung disease.

Sci Rep 2019 Jan 24;9(1):492. Epub 2019 Jan 24.

Département des Sciences Biologiques, Université du Québec à Montréal, Montréal, H3C 3P8, Québec, Canada.

Based on the bilateral relationship between the gut microbiota and formation/function of the enteric nervous system (ENS), we sought to determine whether antibiotics-induced dysbiosis might impact the expressivity of genetically-induced ENS abnormalities. To address this, we took advantage of the TashT mouse model of Hirschsprung disease, in which colonic aganglionosis and hypoganglionosis are both much more severe in males. These defects result into two male-biased colon motility phenotypes: either megacolon that is lethal around weaning age or chronic constipation in adults, the latter being also associated with an increased proportion of nitrergic neurons in the distal ENS. Read More

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http://dx.doi.org/10.1038/s41598-018-36967-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6345786PMC
January 2019
1 Read

The relationship of eosinophilia with outcomes of Hirschsprung disease in children.

Pediatr Surg Int 2019 Jan 21. Epub 2019 Jan 21.

Department of General Surgery, The Children's Mercy Hospital and Clinics, 2401 Gillham Rd, Kansas City, MO, 64108, USA.

Purpose: It has been postulated that children with Hirschsprung disease (HD) and mucosal eosinophilia have been thought to have poorer outcome, but supporting evidence is lacking. The objective of our study was to review the outcomes of children with HD and mucosal eosinophilia.

Methods: A single center, retrospective review was conducted on all patients diagnosed with HD between 1999 and 2016. Read More

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http://link.springer.com/10.1007/s00383-018-04430-9
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http://dx.doi.org/10.1007/s00383-018-04430-9DOI Listing
January 2019
4 Reads

Diagnosis of Hirschsprung's disease in children: Preliminary evaluation of a novel endoscopic technique for rectal biopsy.

JGH Open 2018 Dec 4;2(6):322-326. Epub 2018 Oct 4.

Asian Institute of Gastroenterology Hyderabad India.

Background And Aim: The diagnosis of Hirschsprung's disease (HD) relies on anorectal manometry and rectal biopsy. The role of endoscopic biopsy is uncertain for the diagnosis of HD in children. In this study, we evaluated the adequacy of biopsies procured by endoscopic mucosal resection (EMR) for the diagnosis of HD. Read More

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http://dx.doi.org/10.1002/jgh3.12092DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6308050PMC
December 2018
1 Read

Needs Assessment in Care of Adults With Anorectal Malformations and Exstrophy-Epispadias Complex in Germany.

Front Pediatr 2018 19;6:392. Epub 2018 Dec 19.

Department of Pediatric Surgery and Pediatric Urology, Medical Center for Children and Adolescents AUF DER BULT, Hannover, Germany.

Medical needs of adults with anorectal malformations (ARM) and the exstrophy-epispadias complex (EEC) are not fully understood. Therefore, the aim of the study was to evaluate how affected individuals get along with the current national medical care and what their medical or social long-term requirements are. Between 11/2014-07/2016 all adult members (≥18 years, ARM = 113, EEC = 126) of the German self-help organizations SoMA e. Read More

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http://dx.doi.org/10.3389/fped.2018.00392DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6306024PMC
December 2018
1 Read

Aberrant expressions of miRNA-206 target, FN1, in multifactorial Hirschsprung disease.

Orphanet J Rare Dis 2019 Jan 7;14(1). Epub 2019 Jan 7.

Pediatric Surgery Division, Department of Surgery, Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada/Dr. Sardjito Hospital, Jl. Kesehatan No. 1, Yogyakarta, 55281, Indonesia.

Background: MicroRNAs (miRNAs) have been associated with the Hirschsprung disease (HSCR) pathogenesis, however, the findings are still inconclusive. We aimed to investigate the effect of miRNA-206 and its targets, fibronectin 1 (FN1), serum deprivation response (SDPR), and paired box 3 (PAX3) expressions on multifactorial HSCR in Indonesia, a genetically distinct group within Asia.

Methods: We determined the miRNA-206, FN1, SDPR and PAX3 expressions in both the ganglionic and aganglionic colon of HSCR patients and control colon by quantitative real-time polymerase chain reaction (qRT-PCR). Read More

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http://dx.doi.org/10.1186/s13023-018-0973-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6323865PMC
January 2019
1 Read

Autologous Intestinal Reconstructive Surgery in the Management of Total Intestinal Aganglionosis.

J Pediatr Gastroenterol Nutr 2019 Jan 2. Epub 2019 Jan 2.

Section of Pediatric Surgery, Pediatric Liver and Gut Research Group, Children's Hospital, University of Helsinki and Helsinki University Hospital, Stebäckinkatu 11, 00129 Helsinki, Finland.

Objectives: Total/Near Total intestinal aganglionosis (TIA/NTIA) is the most uncommon and life-threatening form of Hirschsprung disease (HD). The management of TIA/NTIA is challenging and the role of autologous intestinal reconstructive (AIR) surgery is controversial. The objective is to evaluate the effectiveness of AIR in patients with TIA/NTIA. Read More

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http://dx.doi.org/10.1097/MPG.0000000000002260DOI Listing
January 2019
8 Reads

Management of Hirschsprung disease in Australia and New Zealand: a survey of the Australian and New Zealand Association of Paediatric Surgeons (ANZAPS).

Pediatr Surg Int 2019 Jan 3. Epub 2019 Jan 3.

Department of Paediatric Surgery, Monash Children's Hospital, Melbourne, Level 5, 246 Clayton Road, Melbourne, VIC, 3168, Australia.

Purpose: To define the practice of management for Hirschsprung disease (HD) in Australia and New Zealand.

Methods: Online survey of Australian and New Zealand Association of Paediatric Surgeons (ANZAPS) members.

Results: 56/80 (70%) members from 17 centres responded. Read More

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http://dx.doi.org/10.1007/s00383-018-04432-7DOI Listing
January 2019
1 Read

Reliability of the Hirschsprung-Associated Enterocolitis Score in Clinical Practice.

Eur J Pediatr Surg 2019 Feb 2;29(1):132-137. Epub 2019 Jan 2.

Department of Pediatric Surgery, Hospital Universitario La Paz, Madrid, Spain.

Introduction:  There is a lack of an agreed Hirschsprung-associated enterocolitis (HAEC) definition. In 2009, a HAEC score was proposed for the diagnosis of HAEC episodes. Our aim was to apply the HAEC score on HAEC episodes to determine its diagnostic efficiency and whether it correlated to its severity. Read More

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http://dx.doi.org/10.1055/s-0038-1677046DOI Listing
February 2019
10 Reads

Intestinal Duplication and Hirschsprung's Disease: An Extremely Rare and Misleading Combination.

European J Pediatr Surg Rep 2018 Jan 26;6(1):e94-e96. Epub 2018 Dec 26.

Department of Pediatric Surgery, Fondazione IRCCS Policlinico San Matteo, Pavia, Lombardia, Italy.

Hirschsprung's disease and, more rarely, intestinal duplication can both cause intestinal obstruction in neonates. The simultaneous occurrence of these two diseases is reported in only two studies, and in both cases, intestinal duplication was an incidental finding, as it had not determined clinical intestinal occlusion. This paper reports a unique case of coexistence of the two conditions, with both causing intestinal obstruction, delayed appropriate, and definitive surgical treatment. Read More

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http://dx.doi.org/10.1055/s-0038-1675378DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6306274PMC
January 2018

Identifying Information Needs for Hirschsprung Disease Through Caregiver Involvement via Social Media: A Prioritization Study and Literature Review.

J Med Internet Res 2018 Dec 21;20(12):e297. Epub 2018 Dec 21.

Department of Pediatrics and Child Health, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, MB, Canada.

Background: Patient and public involvement in health research is important to produce relevant and impactful results.

Objective: This paper aimed to prioritize and summarize Hirschsprung disease (HD)-related information needs among caregivers of children with HD and pediatric surgeons through partnership with a parent-initiated social media campaign.

Methods: We conducted a Web-based survey with the 2 stakeholder groups to identify information needs. Read More

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http://dx.doi.org/10.2196/jmir.9701DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6320415PMC
December 2018
2 Reads

Alteration of the Retinoid Acid-CBP Signaling Pathway in Neural Crest Induction Contributes to Enteric Nervous System Disorder.

Front Pediatr 2018 3;6:382. Epub 2018 Dec 3.

Children's Nutrition Research Center, Children's Hospital of Chongqing Medical University, Chongqing, China.

Hirschsprung Disease (HSCR) and/or hypoganglionosis are common pediatric disorders that arise from developmental deficiencies of enteric neural crest cells (ENCCs). Retinoid acid (RA) signaling has been shown to affect neural crest (NC) development. However, the mechanisms underlying RA deficiency-induced HSCR or hypoganglionosis are not well-defined. Read More

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http://dx.doi.org/10.3389/fped.2018.00382DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6287626PMC
December 2018
2 Reads

Case of Waardenburg Shah syndrome in a family with review of literature.

J Otol 2018 Sep 8;13(3):105-110. Epub 2018 Jun 8.

Department of Otolaryngology and Head and Neck Surgery, Mahatma Gandhi Memorial Hospital Warangal, Flat no 46, Bhagya Nagar Apartments, RTC Cross Roads, Hyderabad, 500020, Telangana, India.

Waardenburg syndrome is a rare disease characterized by sensorineural deafness in association with pigmentary defects. Depending on additional symptoms, WS have been classified into four types. Waardenburg syndrome type 4, also called as Waardenburg Shah Syndrome is a very rare congenital disorder with astounding variable clinical expression, characterized by pigmentary abnormalities of the hair (A white forelock of hair, premature graying) and pigmentary changes of the iris such as heterochromia or homochromia irides, sensorineural deafness and Hirschsprung disease. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S16722930183000
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http://dx.doi.org/10.1016/j.joto.2018.05.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6291636PMC
September 2018
3 Reads

Waardenburg Syndrome and Left Persistent Superior Vena Cava.

J Clin Imaging Sci 2018 15;8:44. Epub 2018 Nov 15.

Department of Radiology, University of Kentucky, Kentucky, USA.

Waardenburg syndrome (WS) is a rare genetic disorder secondary to neural crest cell developmental abnormalities. It is predominantly described as an auditory-pigmentary syndrome with diverse patient presentation, typically involving congenital sensorineural hearing loss and pigmentation abnormalities of the skin, hair, and iris. Other developmental abnormalities that may be associated with this syndrome are Hirschsprung's disease and a myriad of cardiovascular congenital defects. Read More

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http://www.clinicalimagingscience.org/text.asp?2018/8/1/44/2
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http://dx.doi.org/10.4103/jcis.JCIS_31_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6251238PMC
November 2018
5 Reads

Remodeling of Rectal Innervation After Pullthrough Surgery for Hirschsprung Disease: Relevance to Criteria for the Determination of Retained Transition Zone.

Pediatr Dev Pathol 2018 Dec 12:1093526618817658. Epub 2018 Dec 12.

7 Department of Pathology, Microbiology, and Immunology, Vanderbilt University Medical Center, Nashville, Tennessee.

Background: After pullthrough surgery for Hirschsprung disease (HSCR), Glut1-positive submucosal nerve hypertrophy is used to diagnose retained transition zone in the neorectum. We hypothesized that pelvic nerves, severed during pullthrough surgery, sprout into the neorectum to mimic transition zone.

Methods: The density (nerves/100x field) and maximum diameter of Glut1-positive submucosal nerves were measured in biopsies and redo resections from 20 patients with post-pullthrough obstructive symptoms. Read More

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http://journals.sagepub.com/doi/10.1177/1093526618817658
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http://dx.doi.org/10.1177/1093526618817658DOI Listing
December 2018
4 Reads

Adult With Mutation and Late-Onset Congenital Central Hypoventilation Syndrome.

J Clin Sleep Med 2018 Dec 15;14(12):2079-2081. Epub 2018 Dec 15.

Division of Pediatric Pulmonology and Sleep Medicine, Children's Hospital Los Angeles, Los Angeles, California.

Abstract: 20/27 polyalanine repeat mutation (PARM) in patients with congenital central hypoventilation syndrome (CCHS) is generally associated with full-time ventilator dependence, Hirschsprung disease, and increased risk for cardiac asystole. We follow a 14-year-old boy with CCHS 20/27 PARM who is full-time ventilator dependent via tracheostomy and has Hirschsprung disease. His mother, age 52 years, has a history of prolonged recovery from anesthesia and an elevated serum bicarbonate level of 45 mEq/L discovered on routine blood chemistry. Read More

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http://dx.doi.org/10.5664/jcsm.7542DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6287728PMC
December 2018
5 Reads

No increased risk of attention deficit hyperactivity disorders in patients with Hirschsprung disease.

J Pediatr Surg 2018 Nov 7. Epub 2018 Nov 7.

Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden.

Purpose: Hirschsprung disease (HSCR) has previously been associated with increased need of special education services despite normal intelligence. The aim of this study was to assess the risk of attention deficit hyperactivity disorders (ADHD) in individuals with HSCR in a population-based cohort.

Methods: This was a nationwide, population-based cohort study. Read More

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http://dx.doi.org/10.1016/j.jpedsurg.2018.10.067DOI Listing
November 2018

Combined Genetic Effects of RET and NRG1 Susceptibility Variants on Multifactorial Hirschsprung Disease in Indonesia.

J Surg Res 2019 Jan 17;233:96-99. Epub 2018 Aug 17.

Institute of Molecular Medicine, University of Texas Health Science Center at Houston, Texas.

Background: Specific genetic variants at RET (rs2435357) and NRG1 (rs7835688, rs16879552) are associated with Hirschsprung disease (HSCR) in Indonesia. This study aimed to investigate the additional effect of RET rs2506030 on these variants to determine its potential interactions in HSCR patients of Indonesian ancestry.

Methods: Sixty HSCR patients and 122 non-HSCR controls were ascertained for this study and genotyped for RET rs2506030 using the TaqMan assay. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S00224804183054
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http://dx.doi.org/10.1016/j.jss.2018.07.067DOI Listing
January 2019
1 Read

Impact on Patient Care of a Multidisciplinary Center Specializing in Colorectal and Pelvic Reconstruction.

Front Surg 2018 19;5:68. Epub 2018 Nov 19.

Center for Colorectal and Pelvic Reconstruction (CCPR), Nationwide Children's Hospital, Columbus, OH, United States.

Many patients with an anorectal malformation (ARM) or pelvic anomaly have associated urologic or gynecologic problems. We hypothesized that our multidisciplinary center, which integrates pediatric colorectal, urologic, gynecologic and GI motility services, could impact a patient's anesthetic exposures and hospital visits. We tabulated during 2015 anesthetic/surgical events, endotracheal intubations, and clinic/hospital visits for all patients having a combined procedure. Read More

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http://dx.doi.org/10.3389/fsurg.2018.00068DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6254132PMC
November 2018
2 Reads

Stem cells for babies and their surgeons: The future is now.

J Pediatr Surg 2019 Jan 5;54(1):16-20. Epub 2018 Oct 5.

Division of Pediatric Surgery, Children's Hospital Los Angeles, Keck School of Medicine of the University of Southern California, Los Angeles, CA 90027, USA. Electronic address:

Pediatric surgeons are ideal allies for the translation of basic science including stem cell therapies. In the spirit of Robert E. Gross, of applying creative solutions to pediatric problems with technical expertise, we describe the impending cellular therapies that may be derived from stem and progenitor cells. Read More

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http://dx.doi.org/10.1016/j.jpedsurg.2018.10.027DOI Listing
January 2019

30-Day Outcomes of Laparoscopic Versus Open Total Proctocolectomy with Ileoanal Anastomosis in Children and Young Adults: A Combined Analysis of the National Surgical Quality Improvement Project Pediatric and Adult Databases.

J Laparoendosc Adv Surg Tech A 2018 Nov 27. Epub 2018 Nov 27.

Division of Pediatric Surgery, Johns Hopkins All Children's Hospital , St. Petersburg, Florida.

Background: Studies comparing pediatric laparoscopic and open total proctocolectomy with ileoanal anastomosis (TPC-IAA) are limited in size and number. This study utilized the adult and pediatric databases of the National Surgical Quality Improvement Project (NSQIP) to evaluate 30-day outcomes of these two techniques.

Materials And Methods: Patients younger than 21 years who underwent TPC-IAA from 2012 to 2016 were identified in both NSQIP databases. Read More

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https://www.liebertpub.com/doi/10.1089/lap.2018.0576
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http://dx.doi.org/10.1089/lap.2018.0576DOI Listing
November 2018
9 Reads

Laparoscopic Redo Pull-Through for Hirschsprung Disease Due to Innervation Disorders.

J Laparoendosc Adv Surg Tech A 2018 Nov 21. Epub 2018 Nov 21.

2 Department of Pediatric Surgery, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.

Background: Reoperations in Hirschsprung disease (HD) may be required due to pathological problems. We conducted this retrospective study to determine the incidence and outcomes of innervation disorders among HD patients following pull-through operation.

Materials And Methods: We retrospectively reviewed the data of patients who underwent pull-through procedure from 2005 to 2017. Read More

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http://dx.doi.org/10.1089/lap.2018.0551DOI Listing
November 2018
1 Read

Trends and Predictors of Clostridium difficile Infection among Children: A Canadian Population-Based Study.

J Pediatr 2018 Nov 15. Epub 2018 Nov 15.

IBD Clinical and Research Center, University of Manitoba, Winnipeg, Manitoba, Canada; Department of Internal Medicine, University of Manitoba, Winnipeg, Manitoba, Canada; Community Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada.

Objective: To assess time trends in Clostridium difficile infection (CDI) rates, and predictors of CDIs, including recurrent CDIs, in children.

Study Design: Data were extracted from Manitoba Health Provider Claims, and other population registry datasets from 2005 to 2015. CDI was identified from the Manitoba Health Public Health Branch Epidemiology and Surveillance population-based laboratory-confirmed CDI dataset. Read More

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http://dx.doi.org/10.1016/j.jpeds.2018.10.041DOI Listing
November 2018
6 Reads

Circular RNA CCDC66 targets DCX to regulate cell proliferation and migration by sponging miR-488-3p in Hirschsprung's disease.

J Cell Physiol 2018 Nov 15. Epub 2018 Nov 15.

Department of Pediatric Surgery, Children's Hospital of Nanjing Medical University, Nanjing, China.

It has been suggested that circular RNAs play critical roles in natural growth and disease development. Nevertheless, whether the circular RNAs were related in Hirschsprung's disease (HSCR) remains unknown. Thus, we discovered the cir-CCDC66 was downregulated in HSCR compared with the normal gut tissues. Read More

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http://dx.doi.org/10.1002/jcp.27733DOI Listing
November 2018
7 Reads

Demographic Study and Management of Colonic Atresia: Single-Center Experience with Review of Literature.

J Indian Assoc Pediatr Surg 2018 Oct-Dec;23(4):206-211

Department of Paediatric Surgery, Nil Ratan Sircar Medical College and Hospital, Kolkata, West Bengal, India.

Context And Aim: The aim of this study is to highlight the rarity of this disorder and its associated anomalies and our objective was to review our experience in the management of colonic atresia (CA) with respect to staged surgery versus one-step procedure for a better outcome of the disease.

Settings And Design: A randomized, controlled, single-center study conducted over a period of 4 years from October 2013 to 2017.

Subjects And Methods: Nine cases were operated for CA of which three underwent primary anastomosis and six underwent initial colostomy followed by definitive surgery. Read More

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http://www.jiaps.com/text.asp?2018/23/4/206/242712
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http://dx.doi.org/10.4103/jiaps.JIAPS_219_17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6182946PMC
November 2018
7 Reads

DRG-Derived Neural Progenitors Differentiate into Functional Enteric Neurons Following Transplantation in the Postnatal Colon.

Cell Transplant 2019 Feb 15;28(2):157-169. Epub 2018 Nov 15.

1 Children's Hospital Affiliated and Key Laboratory of Diagnosis and Treatment of Neonatal Diseases of Zhejiang Province, School of Medicine, Zhejiang University, China.

Cell therapy has great promise for treating gastrointestinal motility disorders caused by intestinal nervous system (ENS) diseases. However, appropriate sources, other than enteric neural stem cells and human embryonic stem cells, are seldom reported. Here, we show that neural progenitors derived from the dorsal root ganglion (DRG) of EGFP mice survived, differentiated into enteric neurons and glia cells, migrated widely from the site of injection, and established neuron-muscle connections following transplantation into the distal colon of postnatal mice. Read More

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http://dx.doi.org/10.1177/0963689718811061DOI Listing
February 2019
7 Reads

STROBE-anastomotic leakage after pull-through procedure for Hirschsprung disease.

Medicine (Baltimore) 2018 Nov;97(46):e13140

Department of General Surgery, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.

This study was undertaken to explore the causes, diagnosis, and treatment of anastomotic leakage after pull-through (PT) procedure for Hirschsprung disease (HD).A retrospective analysis of patients with anastomotic leakage after a PT procedure in the General Surgery Department of Beijing Children's Hospital from July 2013 to June 2016 was undertaken. The surgical characteristics, diagnosis, and treatment were retrospectively analyzed. Read More

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http://Insights.ovid.com/crossref?an=00005792-201811160-0002
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http://dx.doi.org/10.1097/MD.0000000000013140DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6257430PMC
November 2018
11 Reads

Even When You Know Everything, There Is Still More to Learn About Hirschsprung Disease.

Gastroenterology 2018 12 9;155(6):1681-1684. Epub 2018 Nov 9.

Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania and The Children's Hospital of Philadelphia - Research Institute, Philadelphia, Pennsylvania. Electronic address:

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http://dx.doi.org/10.1053/j.gastro.2018.11.006DOI Listing
December 2018
1 Read

Congenital intestinal hypoganglionosis: A radiologic mimic of Hirschsprung's disease.

Radiol Case Rep 2019 Feb 3;14(2):171-174. Epub 2018 Nov 3.

Department of Radiology, Akron Childrens Hospital, Akron, OH, USA.

Intestinal hypoganglionosis or isolated hypoganglionosis is a rare entity with a clinical and radiologic presentation that can mimic Hirschsprung's disease in the neonatal period. The diagnosis of this entity can be challenging with suction rectal biopsies that are standard for diagnosing Hirschsprung's disease. We present this case of congenital intestinal hypoganglionosis detailing the neonatal course, due to its rarity and the conundrums faced before an eventual diagnosis could be rendered. Read More

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http://dx.doi.org/10.1016/j.radcr.2018.10.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6222261PMC
February 2019

Bowel management program in patients with spina bifida.

Pediatr Surg Int 2019 Feb 7;35(2):243-245. Epub 2018 Nov 7.

Department of Pediatric Surgery, International Center for Colorectal and Urogenital Care, Children's Hospital Colorado, University of Colorado, Anschutz Medical Campus, 13123 East 16th Avenue, Box 323, Aurora, CO, 80045, USA.

Purpose: Our center has been successfully implementing a bowel management program (BMP) for fecal incontinence consecutive to anorectal malformation and Hirschsprung disease. Recently, the number of patients with spina bifida requiring management for fecal incontinence has increased. The purpose of this study was to review the results of bowel management in patients with spina bifida and the challenges unique to this population. Read More

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http://link.springer.com/10.1007/s00383-018-4403-5
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http://dx.doi.org/10.1007/s00383-018-4403-5DOI Listing
February 2019
19 Reads

Correlation of spatio-temporal characteristics of intestinal inflammation with IL-17 in a rat model of hypoganglionosis.

Biochem Biophys Res Commun 2018 Dec 3;506(4):956-961. Epub 2018 Nov 3.

Department of Pediatric Surgery, The Second Affiliated Hospital, Xi'an Jiaotong University, No 157, Xi Wu Road, Xi'an, 710004, Shaanxi, China. Electronic address:

Interleukin 17 expression is increased in children with Hirschsprung disease, which is characterized by intestinal inflammation. This study designed to exploit the characteristics of intestinal inflammation and examine the correlation of interleukin 17 in this process of hypoganglionosis model established by benzalkonium chloride treatment. Colon sections from female rats were treated with benzalkonium chloride to induce hypoganglionosis or with saline alone as a sham control. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S0006291X183229
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http://dx.doi.org/10.1016/j.bbrc.2018.10.129DOI Listing
December 2018
12 Reads

Locus and allelic heterogeneity and phenotypic variability in Waardenburg syndrome.

Clin Genet 2018 Nov 5. Epub 2018 Nov 5.

Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, Karnataka, India.

Waardenburg syndrome (WS) is a disorder of neural crest cell migration characterized by auditory and pigmentary abnormalities. We investigated a cohort of 14 families (16 subjects) either by targeted sequencing or whole-exome sequencing. Thirteen of these families were clinically diagnosed with WS and one family with isolated non-syndromic hearing loss (NSHL). Read More

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http://doi.wiley.com/10.1111/cge.13468
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http://dx.doi.org/10.1111/cge.13468DOI Listing
November 2018
12 Reads
3.931 Impact Factor

Transition of care: a growing concern in adult patients born with colorectal anomalies.

Pediatr Surg Int 2019 Feb 3;35(2):233-237. Epub 2018 Nov 3.

Department of Pediatric Surgery, International Center for Colorectal and Urogenital Care, Children's Hospital Colorado, University of Colorado, 13123 East 16th Avenue, Anschutz Medical Campus, Box 323, Aurora, CO, 80045, USA.

Purpose: Traditionally, the care of children and adults has been arbitrarily separated into pediatric and adult medicine and surgery. Despite progress in pediatric surgical techniques, patients born with congenital anomalies still suffer from significant functional sequelae, which persist into adulthood. We aim to describe some of the most common problems experienced by adult patients with congenital colorectal malformations. Read More

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http://link.springer.com/10.1007/s00383-018-4401-7
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http://dx.doi.org/10.1007/s00383-018-4401-7DOI Listing
February 2019
12 Reads

Altered expression of inflammasomes in Hirschsprung's disease.

Pediatr Surg Int 2019 Jan 1;35(1):15-20. Epub 2018 Nov 1.

National Children's Research Centre, Our Lady's Children's Hospital, Dublin, Ireland.

Aim Of The Study: The pathogenesis of Hirschsprung's disease-associated enterocolitis (HAEC) is poorly understood. Inflammasomes are a large family of multiprotein complexes that act to mediate host immune responses to microbial infection and have a regulatory or conditioning influence on the composition of the microbiota. Inflammasomes and the apoptosis-associated speck-like protein (ASC) lead to caspase-1 activation. Read More

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http://dx.doi.org/10.1007/s00383-018-4371-9DOI Listing
January 2019
3 Reads

Optimal time for single-stage pull-through colectomy in infants with short-segment Hirschsprung disease.

Int J Colorectal Dis 2019 Feb 27;34(2):255-259. Epub 2018 Oct 27.

Department of Pediatric Surgery, Tongji Hospital, Huazhong University of Science and Technology, 1095 Jiefang Avenue, Hankou, Wuhan, China.

Objective: Short-segment Hirschsprung disease (HSCR) is the predominant type of HSCR that affects approximately 75% of patients. Whether single-stage endorectal pull-through (ERPT) surgery is appropriate for neonatal patients with HSCR has not been definitively determined. This retrospective cohort study concerning infants with short-segment HSCR investigated the optimal age for single-stage ERPT surgery, regardless of the operative approach. Read More

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http://link.springer.com/10.1007/s00384-018-3179-3
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http://dx.doi.org/10.1007/s00384-018-3179-3DOI Listing
February 2019
13 Reads

A Case of Waardenburg-Shah Syndrome Type 4 Presenting with Bilateral Homochromatic Blue Irises from Pakistan.

Cureus 2018 Aug 14;10(8):e3143. Epub 2018 Aug 14.

Internal Medicine, Rawalpindi Medical University, Rawalpindi, PAK.

Waardenburg syndrome (WS) is a rare genetic disorder. It is caused by multiple mutations affecting the melanocytes, leading to a multitude of skin, hair, and eye symptoms. It is an autosomal dominant disease with four subtypes, each presenting with varying degrees of sensorineural hearing loss along with a constellation of other symptoms. Read More

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https://www.cureus.com/articles/13045-a-case-of-waardenburg-
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http://dx.doi.org/10.7759/cureus.3143DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6188159PMC
August 2018
8 Reads

Epidemiology of Hirschsprung disease in California from 1995 to 2013.

Pediatr Surg Int 2018 Dec 15;34(12):1299-1303. Epub 2018 Oct 15.

Division of Pediatric General, Thoracic, and Fetal Surgery, University of California, Davis Medical Center, 2215 Stockton Boulevard, OP512, Sacramento, CA, 95817, USA.

Purpose: This study seeks to update current epidemiology of Hirschsprung disease (HD) in California.

Methods: Using data from the California Office of Statewide Health Planning and Development Linked Birth (1995-2012) and Patient Discharge Databases (1995-2013), patients from either dataset with an ICD-9 diagnosis code of HD (751.3) or procedure code of Soave (48. Read More

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http://dx.doi.org/10.1007/s00383-018-4363-9DOI Listing
December 2018
2 Reads

The RET C611Y mutation causes MEN 2A and associated cutaneous

Endocr Connect 2018 Sep 1;7(9):998-1005. Epub 2018 Sep 1.

Background: Cutaneous lichen amyloidosis (CLA) has been reported in some multiple endocrine neoplasia type 2A (MEN 2A) families affected by specific germline RET mutations C634F/G/R/W/Y or V804M, as a characteristic of the clinical manifestation in ‘MEN 2A with CLA’, one of four variants of MEN 2A, which was strictly located in the scapular region of the upper back.

Patient Findings: This study reports a large south-eastern Chinese pedigree with 17 individuals carrying the MEN 2A-harboring germline C611Y (c.1832G>A) RET mutation by Sanger sequencing. Read More

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http://dx.doi.org/10.1530/EC-18-0220DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6176283PMC
September 2018
3 Reads

Neonatal vitamin K deficiency in the son of a mother with short bowel syndrome.

Pediatr Int 2018 Oct 8;60(10):991-992. Epub 2018 Oct 8.

Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.

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http://doi.wiley.com/10.1111/ped.13684
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http://dx.doi.org/10.1111/ped.13684DOI Listing
October 2018
15 Reads

Preservation of the colo-anal reflex in colonic transection and post-operative Hirschsprung's disease: Potential extrinsic neural pathway.

Neurogastroenterol Motil 2019 Jan 4;31(1):e13472. Epub 2018 Oct 4.

Division of Neurogastroenterology and Motility, Department of Paediatric Gastroenterology, Great Ormond Street Hospital, NHS Foundation Trust, London, UK.

Background: The colo-anal reflex is a distinct reflex whereby the internal anal sphincter (IAS) relaxes in association with colonic high amplitude propagating contractions (HAPCs) in contrast to the recto-anal inhibitory reflex (RAIR), which is characterized by IAS relaxation upon rectal distension. The RAIR is mediated by the myenteric plexus and therefore absent in Hirschsprung disease. We retrospectively assessed the presence and the characteristics of the colo-anal reflex in children in whom large bowel continuity had been surgically disrupted to assess the role of the extrinsic nervous system in the reflex. Read More

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http://dx.doi.org/10.1111/nmo.13472DOI Listing
January 2019
17 Reads

Ethnic variations in the childhood prevalence of Hirschsprung disease in New Zealand.

ANZ J Surg 2018 Oct 3. Epub 2018 Oct 3.

Department of Paediatric Surgery, Wellington Children's Hospital, Wellington, New Zealand.

Background: Epidemiological studies have suggested that there may be ethnic variations in the prevalence of Hirschsprung disease (HD) but no study has systematically investigated this issue or potential ethnic variations in the extent of aganglionosis in HD. This study aimed to investigate this in a childhood population in New Zealand.

Methods: A multicentre national retrospective review was undertaken of all newly diagnosed cases of HD at each of the four paediatric surgical centres in New Zealand over a 16-year period (January 2000 to December 2015). Read More

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http://dx.doi.org/10.1111/ans.14857DOI Listing
October 2018
1 Read

A safe and efficacious preventive strategy in the high-risk surgical neonate: cycled total parenteral nutrition.

Pediatr Surg Int 2018 Nov 28;34(11):1177-1181. Epub 2018 Sep 28.

Department of Surgery, Children's Mercy Hospital, 2401 Gillham Road, Kansas City, MO, 64108, USA.

Introduction: Hepatic dysfunction in patients reliant on total parenteral nutrition (TPN) may benefit from cycled TPN. A concern for neonatal hypoglycemia has limited the use of cycled TPN in neonates less than 1 week of age. We sought to determine both the safety and efficacy of cycled TPN in surgical neonates less than 1 week of age. Read More

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http://dx.doi.org/10.1007/s00383-018-4351-0DOI Listing
November 2018
2 Reads

Reduced expression of the NLRP6 inflammasome in the colon of patients with Hirschsprung's disease.

J Pediatr Surg 2018 Sep 7. Epub 2018 Sep 7.

National Children's Research Centre, Our Lady's Children's Hospital, Crumlin, Dublin, Ireland; School of Medicine and Medical Science and Conway Institute of Biomedical Research, University College Dublin, Ireland. Electronic address:

Purpose: Hirschsprung's associated enterocolitis (HAEC) is the most common cause of morbidity and mortality in Hirschsprung's Disease (HSCR). The pathogenesis of HAEC remains unsatisfactorily understood. Mounting evidence of an altered microbiome in patients with HSCR adds a new angle to the pathogenesis of HAEC. Read More

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http://dx.doi.org/10.1016/j.jpedsurg.2018.08.059DOI Listing
September 2018
13 Reads

The long-term quality of life outcomes in adolescents with Hirschsprung disease.

J Pediatr Surg 2018 Dec 5;53(12):2430-2434. Epub 2018 Sep 5.

Department of Paediatric Surgery, The Royal Children's Hospital, Melbourne; Department of Paediatrics, University of Melbourne; Surgical Research, Murdoch Children's Research Institute, Melbourne; Department of Gastroenterology and Clinical Nutrition, The Royal Children's Hospital, Melbourne. Electronic address:

Background: Postoperative outcomes for Hirschsprung disease (HD) remain variable, with many patients affected by constipation and/or fecal incontinence. The long-term impact upon quality of life (QoL) for HD patients is unclear. We measured long-term QoL outcomes in adolescents with HD using validated questionnaires. Read More

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http://dx.doi.org/10.1016/j.jpedsurg.2018.08.036DOI Listing
December 2018
7 Reads

Transserosal migration of enteric neural stem cells: Developing an avian colon model.

J Pediatr Surg 2018 Dec 2;53(12):2435-2439. Epub 2018 Sep 2.

Murdoch Children's Research Institute, Melbourne.

Background: Stem cell transplantation is a potential therapy for enteric neuropathies, including Hirschsprung disease. Proof-of-principle has been obtained using focal transplants into neonatal mouse colon. The challenge now is to deliver stem cells to a large surface area to reconstruct an enteric nerve plexus. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S00223468183052
Publisher Site
http://dx.doi.org/10.1016/j.jpedsurg.2018.08.017DOI Listing
December 2018
14 Reads

Prevention and management of recurrent postoperative Hirschsprung's disease obstructive symptoms and enterocolitis: Systematic review and meta-analysis.

J Pediatr Surg 2018 Dec 4;53(12):2423-2429. Epub 2018 Sep 4.

Department of Paediatric Surgery, Monash Children's Hospital, Melbourne, Australia; Department of Paediatrics, School of Clinical Sciences at Monash Health, Medicine, Nursing and Health Sciences, Monash University, Melbourne, Australia. Electronic address:

Background/purpose: The purpose of this study was to review the management of obstructive symptoms and enterocolitis (HAEC) following pull-through for Hirschsprung's disease.

Methods: A systematic review and meta-analysis (1992-2017) was performed. Included studies were: randomized controlled trials (RCT), retrospective/prospective case-control (C-C), case-series (C-S). Read More

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http://dx.doi.org/10.1016/j.jpedsurg.2018.08.024DOI Listing
December 2018
6 Reads

Atypical onset of total colonic Hirschsprung disease in a small female infant: A case report.

Medicine (Baltimore) 2018 Sep;97(38):e12315

University of Medicine and Pharmacy of Tirgu Mures, Tirgu Mures, Romania.

Rationale: Hirschsprung disease (HD) or colonic aganglionosis is a congenital disorder, which results from the abnormal migration of neuronal cells of the neural crest leading to a disorder of the enteric nervous system consisting in the absence of ganglion cells within the submucosal and myenteric plexus.

Patient Concerns: We report the case of a 7-month-old female infant admitted in our clinic for constipation and failure to thrive. At the age of 6 months, she was examined in our clinic for the same reasons, and we recommended symptomatic treatment without improvements. Read More

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http://dx.doi.org/10.1097/MD.0000000000012315DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6160117PMC
September 2018
11 Reads
5.723 Impact Factor