4,760 results match your criteria Hirschsprung Disease


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

J Clin Sleep Med 2018 Nov 29. Epub 2018 Nov 29.

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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November 2018

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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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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January 2019

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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November 2018

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

J Pediatr Surg 2018 Oct 5. 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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October 2018

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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November 2018
2 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.

1 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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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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November 2018
1 Read

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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November 2018
3 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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November 2018
2 Reads

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

Cell Transplant 2018 Nov 15:963689718811061. 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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November 2018
1 Read

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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November 2018
3 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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December 2018

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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February 2019

Optimization of DNA isolation method from Formalin-Fixed-Paraffin-Embedded tissues (FFPE) and comparative performance of four different Polymerase Chain Reaction (PCR) kits.

Cell Mol Biol (Noisy-le-grand) 2018 Oct 30;64(13):38-41. Epub 2018 Oct 30.

Department of Biomedical Sciences, Division of Biochemistry and Molecular Biology, Faculty of Medicine, Universitas Padjadjaran, Bandung, Indonesia.

The tissue sample may have important genetic information in diagnostic, prognostic and counselling issues. Formalin-Fixed-Paraffin-Embedded (FFPE) is a routine method for preserving tissues. However, DNA isolated from FFPE tissue is often difficult to be amplified in PCR due to fragmentation and DNA-protein crosslinks. Read More

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October 2018
8 Reads

Bowel management program in patients with spina bifida.

Pediatr Surg Int 2018 Nov 7. 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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November 2018
6 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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December 2018
6 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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November 2018
4 Reads
3.930 Impact Factor

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

Pediatr Surg Int 2018 Nov 3. 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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November 2018
7 Reads

Altered expression of inflammasomes in Hirschsprung's disease.

Pediatr Surg Int 2018 Nov 1. 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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November 2018
2 Reads

Transanal endorectal approach for the treatment of idiopathic rectal prolapse in children: Experience with the modified Delorme's procedure.

J Pediatr Surg 2018 Oct 12. Epub 2018 Oct 12.

Department of Pediatric Surgery, Instituto Nacional de Pediatría, Ciudad de México, Mexico.. Electronic address:

Background: Persistent or recurrent idiopathic rectal prolapse in children requires surgical intervention. Several techniques have been used to repair this problem. However, recurrence and complications continue to be a challenge in the management of this condition. Read More

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October 2018
2 Reads

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

Int J Colorectal Dis 2018 Oct 27. 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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October 2018
4 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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August 2018
6 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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December 2018
1 Read

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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September 2018
2 Reads

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

Neurogastroenterol Motil 2018 Oct 4: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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October 2018
13 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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October 2018
1 Read

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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September 2018
9 Reads

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

J Pediatr Surg 2018 Sep 5. 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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September 2018
4 Reads

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

J Pediatr Surg 2018 Sep 2. 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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September 2018
7 Reads

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

J Pediatr Surg 2018 Sep 4. 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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September 2018
4 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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September 2018
1 Read
5.720 Impact Factor

A novel PHOX2B gene mutation in an extremely low birth weight infant with congenital central hypoventilation syndrome and variant Hirschsprung's disease.

Eur J Med Genet 2018 Sep 15. Epub 2018 Sep 15.

Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan.

Congenital central hypoventilation syndrome is a disorder of respiratory control caused by mutations in the paired-like homeobox 2B gene. Mutations in the paired-like homeobox 2B gene are also responsible for Hirschsprung's disease. Variant Hirschsprung's disease is a rarer disorder that does not meet the diagnostic criteria of Hirschsprung's disease, although severe functional bowel obstruction persists. Read More

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September 2018
1 Read

Advances in understanding the association between Down syndrome and Hirschsprung disease (DS-HSCR).

Authors:
S W Moore

Pediatr Surg Int 2018 Sep 14. Epub 2018 Sep 14.

Division of Paediatric Surgery, Faculty of Medicine and Health Sciences, University of Stellenbosch, PO Box 241, Cape Town, South Africa.

The clinical association between Trisomy 21 (Down syndrome) and aganglionosis (Hirschsprung disease; DS-HSCR) is well-established, being of the order of 5% and remains the most common congenital association with Hirschsprung disease. However, little consensus exists as to the possible etiologic and genetic factors influencing this association. Recent research has identified a number of levels at which development of the enteric nervous system is potentially affected in Trisomy 21. Read More

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September 2018
5 Reads

Identification of Genes Associated With Hirschsprung Disease, Based on Whole-Genome Sequence Analysis, and Potential Effects on Enteric Nervous System Development.

Gastroenterology 2018 12 12;155(6):1908-1922.e5. Epub 2018 Sep 12.

Department of Surgery, Li Ka Shing Faculty of Medicine, University of Hong Kong, Pokfulam, Hong Kong, China. Electronic address:

Background & Aims: Hirschsprung disease, or congenital aganglionosis, is believed to be oligogenic-that is, caused by multiple genetic factors. We performed whole-genome sequence analyses of patients with Hirschsprung disease to identify genetic factors that contribute to disease development and analyzed the functional effects of these variants.

Methods: We performed whole-genome sequence analyses of 443 patients with short-segment disease, recruited from hospitals in China and Vietnam, and 493 ethnically matched individuals without Hirschsprung disease (controls). Read More

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December 2018
14 Reads

Transanal endorectal stepwise gradient muscular cuff cutting pull-through method: Technique refinements and comparison with laparoscopy-assisted procedures.

Exp Ther Med 2018 Sep 6;16(3):2144-2151. Epub 2018 Jul 6.

Department of Pediatric General Thoracic and Urinary Surgery, Affiliated Hospital of Zunyi Medical College, Zunyi, Guizhou 563000, P.R. China.

In all existing radical resection procedures available for Hirschprung's disease (HD), the muscular cuff has been retained. In recent years, our study group has modified the procedure using a stepwise gradient muscular cuff cutting pull-through method for the treatment of HD. The objective of the present study was to assess patient prognosis following the use of the transanal endorectal pull-through (TEPT) method or the laparoscopy-assisted pull-through (LPT) method and to provide evidence to assist in clinical decisions. Read More

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September 2018
1 Read

Outcomes in patients with Hirschsprung disease following definitive surgery.

BMC Res Notes 2018 Sep 4;11(1):644. Epub 2018 Sep 4.

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.

Objective: Several pull-through procedures have been described for Hirschsprung disease (HSCR) with varying outcomes. We aimed to describe the outcomes in HSCR patients < 18 year of age who underwent surgical procedures at Dr. Sardjito Hospital, Yogyakarta, Indonesia from January 2013 to December 2014. Read More

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September 2018

NRG1 variant effects in patients with Hirschsprung disease.

BMC Pediatr 2018 Sep 4;18(1):292. Epub 2018 Sep 4.

Department of Pediatrics, Yoo Loo Lin School of Medicine, National University of Singapore, Singapore, 117549, Singapore.

Background: Hirschsprung disease (HSCR) is a heterogeneous genetic disorder characterized by absence of ganglion cells along the intestines resulting in functional bowel obstruction. Mutations in neuregulin 1 (NRG1) gene have been implicated in some cases of intestinal aganglionosis. This study aims to investigate the contribution of the NRG1 gene to HSCR development in an Indonesian population. Read More

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September 2018
21 Reads

Obstructed defecation-an enteric neuropathy? An exploratory study of patient samples.

Int J Colorectal Dis 2018 Sep 3. Epub 2018 Sep 3.

Department for Tissue Engineering and Regenerative Medicine, University Hospital Würzburg, Würzburg, Germany.

Purpose: Although various strategies exist for chronic constipation therapy, the pathogenesis of chronic constipation is still not completely understood. The aim of this exploratory experimental study is to elucidate alterations of the autonomous enteric nervous system at the molecular level in patients with obstructed defecation, who represent one of the most predominant groups of constipated patients.

Methods: Full-thickness rectal wall samples of patients with obstructed defecation were analyzed and compared with controls. Read More

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September 2018
8 Reads

Digital pathology imaging and computer-aided diagnostics as a novel tool for standardization of evaluation of aganglionic megacolon (Hirschsprung disease) histopathology.

Cell Tissue Res 2018 Sep 3. Epub 2018 Sep 3.

Institute of Anatomy and Cell Biology, Friedrich-Alexander-Universität Erlangen-Nürnberg, Krankenhausstraße 9, 91054, Erlangen, Germany.

Based on a recently introduced immunohistochemical panel (Bachmann et al. 2015) for aganglionic megacolon (AM), also known as Hirschsprung disease, histopathological diagnosis, we evaluated whether the use of digital pathology and 'machine learning' could help to obtain a reliable diagnosis. Slides were obtained from 31 specimens of 27 patients immunohistochemically stained for MAP2, calretinin, S100β and GLUT1. Read More

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September 2018
1 Read

News from the endothelin-3/EDNRB signaling pathway: Role during enteric nervous system development and involvement in neural crest-associated disorders.

Dev Biol 2018 Aug 30. Epub 2018 Aug 30.

Laboratory of Embryology and Genetics of Congenital Malformations, INSERM U1163, Institut Imagine, Paris, France; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France; Service de Génétique Moléculaire, Hôpital Necker-Enfants Malades, Assistance Publique - Hôpitaux de Paris, Paris, France.

The endothelin system is a vertebrate-specific innovation with important roles in regulating the cardiovascular system and renal and pulmonary processes, as well as the development of the vertebrate-specific neural crest cell population and its derivatives. This system is comprised of three structurally similar 21-amino acid peptides that bind and activate two G-protein coupled receptors. In 1994, knockouts of the Edn3 and Ednrb genes revealed their crucial function during development of the enteric nervous system and melanocytes, two neural-crest derivatives. Read More

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August 2018
6 Reads

A recalcitrant case of Jacquet erosive diaper dermatitis after surgery for Hirschsprung disease in a boy with Waardenburg-Shah syndrome.

Dermatol Online J 2018 Jun 15;24(6). Epub 2018 Jun 15.

Department of Dermatology and Venereology, Istanbul Faculty of Medicine, Istanbul University, Istanbul.

We herein present a 4 year-old boy with Waardenburg-Shah syndrome who developed Jacquet erosive diaper dermatitis following a total colectomy and ileoanal anastomosis procedure for Hirschsprung disease. The diagnosis was made according to history and typical clinical findings. Complete resolution of the recalcitrant lesions after an ileostomy procedure supported the diagnosis. Read More

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June 2018
2 Reads

Surgical treatment of children with total colonic aganglionosis: functional and metabolic long-term outcome.

BMC Surg 2018 Aug 15;18(1):58. Epub 2018 Aug 15.

Department of Pediatric Surgery and Pediatric Urology, University Children's Hospital of Tuebingen, Hoppe-Seyler-Str. 3, 72076, Tübingen, Germany.

Background: Total colonic aganglionosis (TCA) is a rare variant of Hirschsprung's disease occurring in 3-10% of the cases. Only few studies reported the long-term clinical and metabolic outcomes of patients with TCA. The aim of this study was to evaluate the functional and metabolic long-term outcomes of children undergoing surgical treatment for TCA. Read More

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August 2018
1 Read

The Runs: Sudden Copious Ostomy Output in an Acolonic Hirschsprung Disease Patient with Short Gut Syndrome.

Dig Dis Sci 2018 Aug 10. Epub 2018 Aug 10.

Department of Pediatric Gastroenterology, Stanford University School of Medicine, Stanford, CA, USA.

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August 2018
1 Read

Identification of risk factors for postoperative recurrent Hirschsprung associated enterocolitis.

J Pediatr Surg 2018 Jul 27. Epub 2018 Jul 27.

Department of General Surgery, Nanfang Hospital, Southern Medical University, Guangzhou, China. Electronic address:

This article has been withdrawn at the request of the author(s) and/or editor. The Publisher apologizes for any inconvenience this may cause. The full Elsevier Policy on Article Withdrawal can be found at https://www. Read More

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Intestinal Neuronal Dysplasia Type B: An Updated Review of a Problematic Diagnosis.

Arch Pathol Lab Med 2018 Aug 8. Epub 2018 Aug 8.

From the Department of Laboratories, Seattle Children's Hospital, Seattle, Washington (Dr Kapur); the Department of Pathology, University of Washington School of Medicine, Seattle (Dr Kapur); and the Department of Pathology, Children's Hospital of Pittsburgh, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania (Dr Reyes-Mugica).

Context: - Intestinal neuronal dysplasia type B (IND B) is a controversial histopathologic phenotype that has been associated with intestinal dysmotility, either as an isolated condition or in conjunction with established pathologic disorders (eg, Hirschsprung disease). Many factors contribute to the debate over the existence and/or clinical significance of IND B, including a large body of published data based on inconsistent diagnostic criteria and methods, which have fostered many unwarranted conclusions that lack sufficient scientific basis.

Objective: - To critically analyze existing published data regarding IND B to provide supporting evidence-based diagnostic practice and to stimulate necessary and scientifically sound research. Read More

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August 2018
10 Reads
2.840 Impact Factor

Microbiome Composition in Both Wild-Type and Disease Model Mice Is Heavily Influenced by Mouse Facility.

Front Microbiol 2018 20;9:1598. Epub 2018 Jul 20.

Department of Botany, University of Wyoming, Laramie, WY, United States.

Murine models have become essential tools for understanding the complex interactions between gut microbes, their hosts, and disease. While many intra-facility factors are known to influence the structure of mouse microbiomes, the contribution of inter-facility variation to mouse microbiome composition, especially in the context of disease, remains under-investigated. We replicated microbiome experiments using identical mouse lines housed in two separate animal facilities and report drastic differences in composition of microbiomes based upon animal facility of origin. Read More

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July 2018
3 Reads

IGF2-derived miR-483-3p associated with Hirschsprung's disease by targeting FHL1.

J Cell Mol Med 2018 Oct 2;22(10):4913-4921. Epub 2018 Aug 2.

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

HSCR (Hirschsprung's disease) is a serious congenital defect, and the aetiology of it remains unclear. Many studies have highlighted the significant roles of intronic miRNAs and their host genes in various disease, few was mentioned in HSCR although. In this study, miR-483-3p along with its host gene IGF2 (Insulin-like growth factor 2) was found down-regulated in 60 HSCR aganglionic colon tissues compared with 60 normal controls. Read More

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October 2018
8 Reads

Single-stage laparoscopic transanal pull-through modified Swenson procedure without leaving a muscular cuff for short- and long-type Hirschsprung disease: a comparative study.

Pediatr Surg Int 2018 Oct 2;34(10):1105-1110. Epub 2018 Aug 2.

Department of Pediatric Surgery, Saitama Children's Medical Center, 1-2 Shintoshin, Chuo, Saitama, Japan.

Purpose: The Soave procedure (SO) is performed most commonly for Hirschsprung disease. SO reduces the risk of injury to the pelvic structures; however, a residual aganglionic muscle cuff could interfere with bowel movement and lead to obstructive enterocolitis. The Swenson procedure is considered ideal in terms of peristalsis. Read More

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October 2018
2 Reads