4,797 results match your criteria Hirschsprung Disease


Two novel mutations in exon 3 of PHOX2B gene: think about congenital central hypoventilation syndrome in patients with Hirschsprung disease.

Ital J Pediatr 2019 Apr 18;45(1):49. Epub 2019 Apr 18.

Respiratory Unit, Academic Department of Pediatrics, Bambino Gesù Children's Hospital, IRCCS, Piazza di Sant'Onofrio 4, 00165, Rome, Italy.

Background: Congenital central hypoventilation syndrome (CCHS) is characterized by alveolar hypoventilation increasing during sleep and affected patients are unable to perceive and respond to hypercarbia with increased ventilation and arousal during sleep. PHOX2B gene mutations are considered as responsible for CCHS. Most of patients with CCHS are heterozygous for polyalanine expansion mutations (PARMs) in exon 3, but 10% of patients with classic CCHS are heterozygous for non-polyalanine expansion mutations (NPARMs) of the PHOX2B gene. Read More

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http://dx.doi.org/10.1186/s13052-019-0636-8DOI Listing
April 2019
1 Read

Down syndrome mouse models have an abnormal enteric nervous system.

JCI Insight 2019 Apr 18;5. Epub 2019 Apr 18.

Children with trisomy 21 (Down syndrome [DS]) have a 130-fold increased incidence of Hirschsprung Disease (HSCR), a developmental defect where the enteric nervous system (ENS) is missing from distal bowel (i.e., distal bowel is aganglionic). Read More

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http://dx.doi.org/10.1172/jci.insight.124510DOI Listing

Complex Simplicity and Hirschsprung's Disease.

N Engl J Med 2019 04;380(15):1478-1479

From the Department of Pediatric Surgery, Massachusetts General Hospital, Harvard Medical School, Boston (A.M.G.), and the Division of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville (N.J.C.).

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http://dx.doi.org/10.1056/NEJMe1902827DOI Listing

Inflammatory Bowel Disease Serological Immune Markers Anti-Saccharomyces cerevisiae Mannan Antibodies and Outer Membrane Porin C are Potential Biomarkers for Hirschsprung-associated Enterocolitis.

J Pediatr Gastroenterol Nutr 2019 Apr 1. Epub 2019 Apr 1.

F. Widjaja Foundation Inflammatory Bowel and Immunobiology Research Institute, Cedars-Sinai Medical Center, Los Angeles, CA.

Objective: Hirschsprung-associated enterocolitis (HAEC) is the most frequent complication in Hirschsprung disease (HSCR) patients. Currently HAEC is diagnosed clinically, leaving uncertainty in the diagnosis thereby potentially leading to over- or undertreatment of patients. The aim of this study was to identify immune biomarkers to aid in the diagnosis of HAEC. Read More

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http://dx.doi.org/10.1097/MPG.0000000000002358DOI Listing
April 2019
2 Reads

Immunohistochemical diagnostics of Hirschprungs disease using calretinin.

Cesk Patol 2019 ;55(1):53-59

Histochemical diagnosis of Hirschsprung´s disease at our institution was introduced in the 1970s, calretinin imunohistochemistry on formalin fixed tissue was newly added in 2015. Employing both methods we were able to confirm Hirschsprung´s disease in 13 patients and exclude it in 34 patients since then. Calretinin seems highly reliable and easy to evaluate, it is not influenced by patient´s age, associated genetic features or the length of agangliosis. Read More

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January 2019
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Guidelines for synoptic reporting of surgery and pathology in Hirschsprung disease.

J Pediatr Surg 2019 Mar 21. Epub 2019 Mar 21.

Division of Pediatric Surgery, Department of Surgery, University of Tennessee Health Science Center; Children's Foundation Research Institute, Le Bonheur Children's Hospital, Memphis, TN, USA. Electronic address:

Background/purpose: Synoptic, or standardized, reporting of surgery and pathology reports has been widely adopted in surgical oncology. Patients with Hirschsprung disease may experience morbidity related to surgical factors or underlying pathology and often undergo multiple operations. Our aim is to improve the postoperative outcome and care of patients with Hirschsprung disease by proposing a standardized set of data that should be included in every surgery and pathology report. Read More

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http://dx.doi.org/10.1016/j.jpedsurg.2019.03.010DOI Listing
March 2019
1 Read
1.311 Impact Factor

Swedish national population-based study shows an increased risk of depression among patients with Hirschsprung disease.

Acta Paediatr 2019 Mar 29. Epub 2019 Mar 29.

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

Aim: Hirschsprung disease is usually treated during infancy. The long-term impact on mental health has not been well studied. The aim of this study was to assess the risk for depressive disorders in individuals with Hirschsprung disease. Read More

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http://dx.doi.org/10.1111/apa.14801DOI Listing

Infra-anastomotic Innervation of Residual Aganglionic Distal Rectum After Pull-through Surgery for Hirschsprung Disease.

Pediatr Dev Pathol 2019 Mar 27:1093526619837788. Epub 2019 Mar 27.

2 Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, Ohio.

Background: Descending neurons are important for intestinal reflex activities, including the recto-anal inhibitory reflex involved in normal defecation. Pull-through surgery for Hirschsprung disease results in the anastomosis of ganglionic bowel to native aganglionic rectum just superior to the internal anal sphincter, which potentially could allow for physiologically significant infra-anastomotic innervation.

Methods: The density and distribution of intramuscular neuronal nitric oxide synthase (nNOS)- and mucosal calretinin-immunoreactive nerves were evaluated proximal and distal to the anastomosis in redo resection specimens after pull-through surgery for Hirschsprung disease. Read More

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http://dx.doi.org/10.1177/1093526619837788DOI Listing

Aganglionic megacolon in the adult. Urgent and surprising cause of intestinal occlusion.

Rev Esp Enferm Dig 2019 Mar 26;111. Epub 2019 Mar 26.

Cirugía General y del Aparato Digestivo, Hospital Universitario de Gran Canaria Dr. Negrín.

In relation to the interesting article published recently in your scientific journal titled "Hirschsprung disease with debut in adult age as acute intestinal obstruction: a case report" , we would like to provide an exceptional case where the evolution of Hirschsprung's disease and an infrequent surgical complication developed in the long term are combined. Read More

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http://dx.doi.org/10.17235/reed.2019.5922/2018DOI Listing
March 2019
8 Reads

B-lymphocyte-intrinsic and -extrinsic defects in secretory immunoglobulin A production in the neural crest-conditional deletion of endothelin receptor B model of Hirschsprung-associated enterocolitis.

FASEB J 2019 Mar 25:fj201801913R. Epub 2019 Mar 25.

Division of Pediatric Surgery, Department of Surgery, University of Tennessee Health Sciences Center, Memphis, Tennessee, USA.

Hirschsprung disease (HSCR) is a common cause of intestinal obstruction in the newborn. Hirschsprung-associated enterocolitis (HAEC) is a significant and life-threatening complication of HSCR, affecting up to 60% of patients. Animal models of endothelin receptor B ( EdnrB) mutation reliably model human HSCR and HAEC. Read More

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https://www.fasebj.org/doi/10.1096/fj.201801913R
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http://dx.doi.org/10.1096/fj.201801913RDOI Listing
March 2019
10 Reads

Is Hirschsprung disease a purely neurological condition? A study of the Actin G2 smooth muscle gene in Hirschsprung disease.

J Pediatr Surg 2019 Mar 1. Epub 2019 Mar 1.

Division of Paediatric Surgery, University of stellenbosch, Stellenbosch, South Africa.

Background: Hirschsprung disease is a functional obstruction of the gastrointestinal tract due to the congenital absence of ganglion cells in the intermyenteric plexuses of the distal bowel. Gastrointestinal motility requires intact muscular layers as well as neural network connection to function properly. The Actin G2 gene is the main gene encoding actin gamma 2; a smooth muscle actin found in enteric tissues. Read More

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http://dx.doi.org/10.1016/j.jpedsurg.2019.01.069DOI Listing
March 2019
1 Read

Congenital central hypoventilation syndrome and Hirschsprung disease: A retrospective review of the French National Registry Center on 33 cases.

J Pediatr Surg 2019 Mar 1. Epub 2019 Mar 1.

Department of General Pediatric Surgery, Robert Debre Children University Hospital, APHP, Paris, France; UMR1149 Inserm, Paris Diderot University, Paris, France. Electronic address:

Aim Of The Study: Congenital Central Hypoventilation Syndrome (CCHS) is a rare affection associated to Hirschsprung disease (HD) in 20% of the cases. Using the French CCHS registry, we described the population of patients suffering from both CCHS and HD reporting the outcome on these patients.

Methods: Medical records were reviewed. Read More

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http://dx.doi.org/10.1016/j.jpedsurg.2019.02.014DOI Listing
March 2019
1 Read

Should we look for Hirschsprung disease in all children with meconium plug syndrome?

J Pediatr Surg 2019 Mar 1. Epub 2019 Mar 1.

Division of Pediatric Surgery, Ann & Robert H. Lurie Children's Hospital, Northwestern University Feinberg School of Medicine; Surgical Outcomes and Quality Improvement Center, Department of Surgery, Northwestern University Feinberg School of Medicine. Electronic address:

Background: Meconium plug syndrome (MPS) is associated with Hirschsprung disease (HD) in 13-38% of cases. This study sought to assess institutional variation in utilization of rectal biopsy in children with MPS and the likelihood of diagnosing HD in this population.

Methods: Patients with MPS on contrast enema in the first 30 days of life from the Pediatric Health Information System database in 2016-2017 were included. Read More

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http://dx.doi.org/10.1016/j.jpedsurg.2019.02.036DOI Listing

Selective serotonin reuptake inhibitors during pregnancy do not increase the risk of Hirschsprung's disease.

J Pediatr Surg 2019 Mar 1. Epub 2019 Mar 1.

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

Purpose: Hirschsprung disease (HSCR) is a multifactorial disease. Maternal intake of selective serotonin reuptake inhibitors (SSRI) during early pregnancy has previously been associated with increased risk for HSCR. The aim of this study was to assess the risk for HSCR in newborns after maternal intake of SSRI in a population-based Swedish cohort. Read More

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http://dx.doi.org/10.1016/j.jpedsurg.2019.02.015DOI Listing
March 2019
4 Reads

Congenital intestinal stenosis and Hirschsprung's disease: two extremely rare pathologies in a newborn puppy.

BMC Vet Res 2019 Mar 13;15(1):92. Epub 2019 Mar 13.

Department of Reproductive Biology, National Institute of Medical Sciences and Nutrition Salvador Zubirán, Avenue. Vasco de Quiroga 15 Col. Belisario Domínguez, Section XVI, Tlalpan, 14080, México City, Mexico.

Background: Hirschsprung's disease (HSCR) is a common congenital malformation of the enteric nervous system (ENS). During fetal development, ganglion cells of the ENS are derived from neural crest cells that migrate to the bowel. These cells reside principally in two ganglionated plexus: 1) The myenteric plexus, extending from the esophagus to the anus, and 2) submucous plexus, extending from the duodenum to the anus. Read More

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http://dx.doi.org/10.1186/s12917-019-1806-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6416937PMC
March 2019
2 Reads

Early oral feeding versus traditional feeding after transanal endorectal pull-through procedure in Hirschsprung's disease.

Medicine (Baltimore) 2019 Mar;98(10):e14829

Department of Radiology, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.

Our study questioned whether the outcome of postoperative early oral feeding is different from traditional postoperative feeding in children with Hirschsprung's disease who underwent transanal endorectal pull-through.This was an observational and comparative study. Patients were allocated into 2 groups. Read More

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http://dx.doi.org/10.1097/MD.0000000000014829DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6417531PMC
March 2019
2 Reads

Three-Dimensional Versus Two-Dimensional Laparoscopic-Assisted Transanal Pull-Through for Hirschsprung's Disease in Children: Preliminary Results of a Prospective Cohort Study in a Tertiary Hospital.

J Laparoendosc Adv Surg Tech A 2019 Apr 11;29(4):557-563. Epub 2019 Mar 11.

Department of Pediatric Surgery, Huai'an Women and Children's Hospital, Huai'an, Jiangsu, China.

Background: This prospective cohort study is aimed to compare the efficacy and safety of three-dimensional (3D) versus two-dimensional (2D) laparoscopy in laparoscopic-assisted transanal pull-through (LATP) for the surgical treatment of Hirschsprung's disease (HD) in children.

Methods: This study enrolled 80 children who were histologically diagnosed with HD and undergone LATP performed by a single experienced surgeon at our department between January 2015 and November 2017. Children were randomized to receive 2D laparoscopy (n = 40) or 3D laparoscopy (n = 40). Read More

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http://dx.doi.org/10.1089/lap.2018.0537DOI Listing
April 2019
2 Reads

Clinical features of children with Haddad syndrome: A single-center experience.

J Pediatr Surg 2019 Feb 23. Epub 2019 Feb 23.

Department of Pediatric Surgery, Seoul National University College of Medicine, Seoul, Republic of Korea.

Background/purpose: Haddad syndrome (HS) is a very rare disease considered a form of neurocristopathy. It is characterized by a combination of congenital central hypoventilation syndrome (CCHS) and Hirschsprung's disease (HD). We report the clinical features and disease progression of HS to provide better care for HS patients by achieving an earlier diagnosis and optimal treatment. Read More

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http://dx.doi.org/10.1016/j.jpedsurg.2019.01.066DOI Listing
February 2019
2 Reads

Measurement of novel intestinal secretory and barrier pathways and effects of proteases.

Neurogastroenterol Motil 2019 Apr;31(4):e13547

Division of Gastroenterology & Hepatology, Mayo Clinic, Rochester, Minnesota.

The epithelial lining of the gastrointestinal (GI) tract in conjunction with the enteric nervous system (ENS) plays an important role in mediating solute absorption and secretion. A dysregulated ionic movement across the epithelium can result in GI diseases that manifest as either watery diarrhea or constipation. Hirschsprung disease is an example of an ENS disorder characterized by absence of enteric ganglia in distal gut resulting in obstructive phenotype. Read More

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http://dx.doi.org/10.1111/nmo.13547DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6407641PMC
April 2019
2 Reads

Family reflections: Hirschsprung disease.

Pediatr Res 2019 Mar 5. Epub 2019 Mar 5.

, Winnipeg, Canada.

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http://dx.doi.org/10.1038/s41390-019-0361-4DOI Listing

Increased miR-214 expression suppresses cell migration and proliferation in Hirschsprung disease by interacting with PLAGL2.

Pediatr Res 2019 Mar 1. Epub 2019 Mar 1.

Department of Gastrointestinal Surgery, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430022, China.

Background: The miR-214 has been reported to be associated with various diseases, but its involvement in the pathophysiology of Hirschsprung disease (HSCR) is almost completely unexplored.

Methods: In our study, we conducted a series of experiments to unravel the biological role of miR-214 in the pathophysiology of HSCR. qRT-PCR and western blotting were utilized to investigate the relative expression levels of miR-214, mRNAs, and proteins of related genes in colon tissues from 20 controls without HSCR and 24 patients with HSCR. Read More

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http://dx.doi.org/10.1038/s41390-019-0324-9DOI Listing

Hirschsprung's disease and Down syndrome: From the reappraisal of risk factors to the impact of surgery.

J Pediatr Surg 2019 Feb 12. Epub 2019 Feb 12.

Unit of Pediatric Surgery, Giannina Gaslini Institute, Genoa, Italy.

Introduction: The association of Hirschsprung disease (HSCR) and Down Syndrome (DS) is not uncommon (HSCR+DS). This paper aims at reporting the results of a 24-year series focusing on surgical approach, complications and long term outcome.

Materials And Methods: The notes of all patients admitted with a diagnosis of HSCR+DS have been retrospectively reviewed. Read More

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http://dx.doi.org/10.1016/j.jpedsurg.2019.01.053DOI Listing
February 2019
2 Reads

MPGES-1 derived PGE2 inhibits cell migration by regulating ARP2/3 in the pathogenesis of Hirschsprung disease.

J Pediatr Surg 2019 Feb 24. Epub 2019 Feb 24.

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

Background: We previously studied the metabolomics, transcriptomics and proteomics of intestinal tissue of Hirschsprung disease (HSCR) patients; the results suggested that the expression of prostaglandin E2(PGE2), prostaglandin E receptor 2(PTGER2) and microsomal prostaglandin E synthase-1 (mPGES-1) notably increased in HSCR colon tissues. We already verified the differential expression of PGE2/EP2 in HSCR patients; therefore we investigate how mPGES-1 derived PGE2 affects the migration and the potential mechanism in cells, revealing the role of mPGES-1 derived PGE2 in the pathogenesis of Hirschsprung disease.

Methods: SH-SY5Y and SK-N-BE2 cell lines were obtained from American Type Culture Collection (ATCC, USA). Read More

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https://linkinghub.elsevier.com/retrieve/pii/S00223468193000
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http://dx.doi.org/10.1016/j.jpedsurg.2019.01.001DOI Listing
February 2019
2 Reads
1.311 Impact Factor

Factors influencing the incidence of Hirschsprung associated enterocolitis (HAEC).

J Pediatr Surg 2019 Jan 31. Epub 2019 Jan 31.

Division of Pediatric Surgery, CHU Ste-Justine, University of Montreal, Montreal, Canada. Electronic address:

Purpose: This study aims to characterize risk factors for Hirschsprung-associated enterocolitis (HAEC). We hypothesize that earlier pull-through surgery is associated with lower risks of developing postoperative HAEC.

Methods: A comparative study of 171 Hirschsprung patients treated from 1990 to 2017 was performed. Read More

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http://dx.doi.org/10.1016/j.jpedsurg.2019.01.026DOI Listing
January 2019

Long-Term Outcome of Hirschsprung Disease: Impact on Quality of Life and Social Condition at Adult Age.

Dis Colon Rectum 2019 Feb 18. Epub 2019 Feb 18.

Background: Hirschsprung disease is a rare congenital disease typically requiring surgical treatment during childhood. Quality of life and social condition at adult age can be impaired by disease-specific sequelae.

Objective: This study aimed to assess the quality of life and social outcome of adult patients operated on for Hirschsprung disease during childhood. Read More

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http://dx.doi.org/10.1097/DCR.0000000000001363DOI Listing
February 2019
1 Read

Pleiotropic effect of common variants in Hirschsprung disease and neuroblastoma.

Aging (Albany NY) 2019 Feb;11(4):1252-1261

Department of Pediatric Surgery, Guangzhou Institute of Pediatrics, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzho, Guangdong 510623, China.

Hirschsprung disease (HSCR) is a heterogeneous congenital disorder that affects the enteric nervous system, while neuroblastoma is an embryonal tumor of the sympathetic nervous system. Familial cases of both HSCR and neuroblastoma appear to be functionally linked to , which plays a key role in the development of neural crest derivatives. However, the association between common variants and disease risk is contested. Read More

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http://dx.doi.org/10.18632/aging.101834DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6402522PMC
February 2019
3 Reads

Novel PHOX2B mutations in congenital central hypoventilation syndrome.

Pediatr Int 2019 Feb 20. Epub 2019 Feb 20.

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

Background: Congenital central hypoventilation syndrome (CCHS) is caused by mutation of paird-like homeobox 2B (PHOX2B). Approximately 90% of patients were found to carry polyalanine repeat expansion mutation (PARM), and the remaining 10% had non-PARM (NPARM). In PARM, the length of the polyalanine expansion correlates with clinical disease severity. Read More

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http://dx.doi.org/10.1111/ped.13812DOI Listing
February 2019
2 Reads

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
2 Reads

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
2 Reads

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
6 Reads

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
4 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
2 Reads

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

Pediatr Surg Int 2019 Apr 21;35(4):425-429. 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
April 2019
9 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
3 Reads

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
3 Reads

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

Orphanet J Rare Dis 2019 01 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
13 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 Apr 3;35(4):419-423. 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
April 2019
2 Reads

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
24 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
1 Read

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
4 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
3 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
4 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
10 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

Treatment of Adult Hirschsprung's Disease by Botulinum Toxin A through Anorectal Injection.

Chin Med J (Engl) 2018 Dec;131(24):3007-3008

Department of General Surgery, Tianjin Medical University General Hospital, Tianjin 300052, China.

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http://dx.doi.org/10.4103/0366-6999.247209DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6302634PMC
December 2018

Too Many Biopsies Performed to Rule Out Hirschsprung's Disease: But It is Worth Doing Them.

Eur J Pediatr Surg 2019 Feb 10;29(1):97-101. Epub 2018 Dec 10.

Department of Paediatric Surgery, Noah's Ark Children's Hospital for Wales, Cardiff, United Kingdom.

Introduction:  The U.K. National Institute for Health and Clinical Excellence (NICE) specify the following indications for performing rectal biopsy to rule out Hirschsprung's disease (HSD): (1) passage of meconium > 48 hours; (2) constipation since first few weeks of life; (3) chronic abdominal distension with vomiting; (4) family history of HSD; and (5) faltering growth in addition to any other indication. Read More

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http://dx.doi.org/10.1055/s-0038-1675771DOI Listing
February 2019
4 Reads

[Home and Ambulatory Artificial Nutrition (NADYA) Report. Home Parenteral Nutrition in Spain, 2017].

Nutr Hosp 2018 Dec 3;35(6):1491-1496. Epub 2018 Dec 3.

1. Hospital General Universitario de Alicante, Alicante, España. 2. Fundación para el Fomento de la Investigación Sanitaria y Biomédica (ISABIAL-FISABIO), Alicante, España..

Aim: to communicate HPN data obtained from the HPN registry of the NADYA-SENPE group (www.nadya-senpe.com) for the year 2017. Read More

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http://dx.doi.org/10.20960/nh.2364DOI Listing
December 2018
14 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
10 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