5,223 results match your criteria Hirschsprung Disease


Laparoscopic vs. Transabdominal Treatment for Overflow Fecal Incontinence Due to Residual Aganglionosis or Transition Zone Pathology in Hirschsprung's Disease Reoperation.

Front Pediatr 2021 27;9:600316. Epub 2021 Apr 27.

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

The aim of this study was to describe the details of laparoscopic-assisted reoperative surgery for Hirschsprung's disease (HSCR) with overflow fecal incontinence, and to retrospectively compare laparoscopic-assisted surgery with transabdominal pull-through surgery. We retrospectively analyzed patients with HSCR with overflow fecal incontinence after the initial surgery in our center between January 2002 and December 2018. Pre-operative, peri-operative, and post-operative data were recorded for statistical analysis. Read More

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Clinical characteristics of Polish patients with molecularly confirmed Mowat-Wilson syndrome.

J Appl Genet 2021 May 12. Epub 2021 May 12.

Department of Paediatrics, Division of Paediatric Propaedeutics and Rare Disorders, Medical University, Wroclaw, Poland.

Mowat-Wilson syndrome is a rare neurodevelopmental disorder caused by pathogenic variants in the ZEB2 gene, intragenic deletions of the ZEB2 gene, and microdeletions in the critical chromosomal region 2q22-23, where the ZEB2 gene is located. Mowat-Wilson syndrome is characterized by typical facial features that change with the age, severe developmental delay with intellectual disability, and multiple congenital abnormalities. The authors describe the clinical and genetic aspects of 28th patients with Mowat-Wilson syndrome diagnosed in Poland. Read More

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[Clinical and genetic analysis of a patient with Mowat-Wilson syndrome].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2021 May;38(5):465-468

Department of Pediatrics, Qilu Hospital, Shandong University, Jinan, Shandong 266035, China.

Objective: To summarize the clinical phenotype and genotype of a Chinese child affected with Mowat-Wilson syndrome (MWS).

Methods: Clinical data of the patient were collected. The patient was analyzed by whole-exome sequencing (WES) as well as Sanger sequencing. Read More

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Benzophenone-3 induced abnormal development of enteric nervous system in zebrafish through MAPK/ERK signaling pathway.

Chemosphere 2021 May 5;280:130670. Epub 2021 May 5.

Department of Pediatric Surgery, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430030, China. Electronic address:

Hirschsprung disease (HSCR) is a congenital disease characterized by the absence of enteric neurons, which is derived from the failure of the proliferation, differentiation or migration of the enteric neural crest cells (ENCCs). HSCR is associated with multiple risk factors, including polygenic inheritance factors and environmental factors. Genetic studies have been extensively performed, whereas studies related to environmental factors remain insufficient. Read More

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Endoscopic Decompression with a Transanal Drainage Tube for the Treatment of Hirschsprung's Disease in Newborns.

J Laparoendosc Adv Surg Tech A 2021 May 7. Epub 2021 May 7.

Department of General Surgery, Capital Institute of Pediatrics, Beijing, P.R. China.

To evaluate the effectiveness and safety of endoscopic decompression with a transanal drainage tube (ED-TDT) in the treatment of neonatal Hirschsprung's disease (HD). Six newborns (4 boys and 2 girls; age at operation 9-29 days, median 24 days) were admitted to our hospital due to the delayed passage of meconium after birth, abdominal distension, and vomiting. HD was diagnosed by the retrograde enema radiography. Read More

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Refractory Constipation in a 53-Year-Old Man.

Gastroenterology 2021 May 5. Epub 2021 May 5.

Department of Primary Care and Community Health, Aichi Medical University, Nagakute, Japan.

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mA demethylase ALKBH5 suppresses proliferation and migration of enteric neural crest cells by regulating TAGLN in Hirschsprung's disease.

Life Sci 2021 May 5;278:119577. Epub 2021 May 5.

Department of Pediatric Surgery, Children's Hospital of Nanjing Medical University, Nanjing 210000, Jiangsu, China. Electronic address:

Objectives: This study aims to investigate the role of demethylase ALKBH5 mediated demethylation of TAGLN mRNA in the occurrence of Hirschsprung's disease (HSCR), and to clarify how ALKBH5 reduces the mA level of TAGLN mRNA and inhibits its degradation, thereby inhibiting the proliferation and migration of neural crest cells, and potentially contributing to the occurrence of HSCR.

Material And Methods: Quantitative real-time PCR (qRT-PCR) and Western-Blot (WB) were conducted to test the expression level of ALKBH5 and TAGLN genes. Cell function assays were adopted to detect cell phenotypes. Read More

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Increased RET activity coupled with a reduction in the gene dosage causes intestinal aganglionosis in mice.

eNeuro 2021 May 6. Epub 2021 May 6.

Division for Neural Differentiation and Regeneration, Department of Physiology and Cell Biology, Kobe University Graduate School of Medicine, Kobe, Hyogo, Japan

Mutations of the gene encoding the tyrosine kinase causes Hirschsprung disease (HSCR) and medullary thyroid carcinoma (MTC). Current consensus holds that HSCR and MTC are induced by inactivating and activating RET mutations, respectively. However, it remains unknown whether activating mutations in the gene have adverse effects on ENS development in vivo. Read More

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Optimism for the Single-stage Transanal Swenson in Neonates.

J Indian Assoc Pediatr Surg 2021 Jan-Feb;26(1):16-22. Epub 2021 Jan 11.

Department of Pediatric Surgery, Cairo University Specialized Pediatric Hospital, Cairo, Egypt.

Background: Hirschsprung's disease (HD) has been traditionally treated from infancy onward and different techniques have been used including Swenson, Soave, and Duhamel procedures. The purpose of this study was to evaluate the transanal Swenson's procedure for classical rectosigmoid HD in neonates.

Patient And Methods: This was a prospective study in which neonates diagnosed with HD were recruited from January 2017 to December 2018. Read More

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January 2021

Enteric mesenchymal cells support the growth of postnatal enteric neural stem cells.

Stem Cells 2021 May 2. Epub 2021 May 2.

Department of Pediatric Surgery, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, USA.

Interplay between embryonic enteric neural stem cells (ENSCs) and enteric mesenchymal cells (EMCs) in the embryonic gut is essential for normal development of the enteric nervous system. Disruption of these interactions underlies the pathogenesis of intestinal aganglionosis in Hirschsprung disease (HSCR). ENSC therapy has been proposed as a possible treatment for HSCR, but whether the survival and development of postnatal-derived ENSCs similarly rely on signals from the mesenchymal environment is unknown and has important implications for developing protocols to expand ENSCs for cell transplantation therapy. Read More

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A Rare Case of Dorsal Agenesis of Pancreas, Choledochal Cyst, and Hirschsprung Disease in a Young Patient.

ACG Case Rep J 2021 Apr 26;8(4):e00561. Epub 2021 Apr 26.

Division of GI and HPB Surgery Department of Surgery, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry, India.

Dorsal pancreatic agenesis is a rare congenital pancreatic malformation. There is just 1 reported case associating it with choledochal cyst. However, no cases have reported yet with both coexisting with Hirschsprung disease. Read More

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[Adult Hirschsprung's allied disease presented with colonic ulcer accompanied difficile infection].

Zhonghua Nei Ke Za Zhi 2021 May;60(5):469-472

Department of Gastroenterology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Science, Beijing 100730, China.

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N-terminal deletion of specific phosphorylation sites on PHOX2B disrupts the formation of enteric neurons in vivo.

Am J Physiol Gastrointest Liver Physiol 2021 Apr 21. Epub 2021 Apr 21.

Surgery, Children's Hospital of Los Angeles, United States.

Mutations in the paired-like homeobox 2b (PHOX2B) gene are associated with congenital central hypoventilation syndrome (CCHS), which is a rare condition in which both autonomic dysregulation with hypoventilation and an enteric neuropathy may occur. The majority of CCHS patients have a polyalanine repeat mutation (PARM) in PHOX2B, but a minority of patients have non-polyalanine repeat mutations (NPARM), some of which have been localized to exon 1. A PHOX2B-Y14X nonsense mutation previously generated in a human pluripotent stem cell (hPSC) line results in an N-terminus truncated product missing the first 17 or 20 amino acids, possibly due to translational reinitiation at an alternate ATG start site. Read More

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Sigmoid Colonic Stricture Mimicking Hirschsprung Disease in a Cytomegalovirus Positive Immunocompetent Infant.

Indian J Pediatr 2021 Apr 20. Epub 2021 Apr 20.

Department of Pediatric Surgery, All India Institute of Medical Sciences, Bhubaneswar, Odisha, 751019, India.

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How the Management of Children With Congenital Central Hypoventilation Syndrome Has Changed Over Time: Two Decades of Experience From an Italian Center.

Front Pediatr 2021 29;9:648927. Epub 2021 Mar 29.

Pediatric Pulmonology & Respiratory Intermediate Care Unit, Sleep, and Long-Term Ventilation Unit, Academic Department of Pediatrics and Genetic Research Area, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

Congenital central hypoventilation syndrome (CCHS) is a rare disorder whose clinical phenotype is closely related to genotype. A retrospective analysis has been conducted on 22 patients with CCHS, who were referred to the Pediatric Pulmonology and Respiratory Intermediate Care Unit of Bambino Gesù Children's Hospital (Italy) for a multidisciplinary follow-up program between 2000 and 2020. Apnea and cyanosis were the most frequent symptoms at onset (91%). Read More

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Estimation of plasma and RBC acetylcholinesterase in children: An evaluation tool for Hirschsprung's disease?

Indian J Pathol Microbiol 2021 Apr-Jun;64(2):266-276

Department of Pathology, St. John's Medical College, Bengaluru, Karnataka, India.

Background: Increased acetylcholinesterase (AChE) activity on frozen sections of rectal mucosal biopsies accurately diagnoses Hirschsprung disease (HD). But the quest for a biomarker in blood as a screening test prompts one to look for AChE in blood and study its role in HD diagnosis.

Aim: To develop a low-cost reliable method to estimate the AChE activity in plasma and red blood cells (RBCs) in normal children (control) and study its role in HD (test). Read More

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Label-free detection of human enteric nerve system using Raman spectroscopy: A pilot study for diagnosis of Hirschsprung disease.

J Pediatr Surg 2021 Mar 26. Epub 2021 Mar 26.

Department of Gastroenterological and Pediatric Surgery, Oita University Faculty of Medicine, 1-1 Hasama, Yufu-city, Oita 879-5593, Japan.

Background: Hirschsprung disease (HSCR) is characterized by the absence of an enteric nerve system (ENS). To remove aganglionosis, bowel reconstruction is only a curative treatment. It is mandatory to identify the extent of aganglionosis during surgery. Read More

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Congenital anomalies of the kidney and urinary tract in a cohort of 280 consecutive patients with Hirschsprung disease.

Pediatr Nephrol 2021 Apr 9. Epub 2021 Apr 9.

Pediatric Surgery, Umberto Bosio Center for Digestive Diseases, The Children Hospital, AO SS Antonio e Biagio e Cesare Arrigo, Alessandria, EU, Italy.

Background: Congenital anomalies of the kidney and urinary tract (CAKUT) have been underestimated in Hirschsprung disease (HSCR). This paper aims at reporting results of patients with HSCR who underwent kidney and urinary tract assessment.

Methods: Patients seen between December 2005 and November 2020 underwent a complete kidney and urinary tract diagnostic workup. Read More

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Maternal mental disorders and risk of pathological abdominal conditions in children.

Arch Womens Ment Health 2021 Apr 8. Epub 2021 Apr 8.

University of Montreal Hospital Research Centre, Montreal, Canada.

The etiology of pediatric abdominal disorders is poorly understood, and the relationship with maternal mental health is understudied. We sought to determine the association between maternal psychiatric disorders and abdominal conditions in childhood. We performed a retrospective cohort study of 1,080,518 newborns in Quebec, Canada, between 2006 and 2020. Read More

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Assessment of Quality of Life and Functional Outcomes of Operated Cases of Hirschsprung Disease in a Developing Country.

Pediatr Gastroenterol Hepatol Nutr 2021 Mar 4;24(2):145-153. Epub 2021 Mar 4.

Department of Paediatric Surgery, Christian Medical College and Hospital, Vellore, India.

Purpose: Children treated for Hirschsprung disease (HD) are adversely affected by fecal incontinence and soiling. This can be detrimental to their physical, psychosocial quality of life (QoL) and impacts the normal functioning of their family. QoL studies in HD are predominantly from developed countries. Read More

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RECONSTRUCTIVE FUNCTIONAL RESERVOIRS IN TREATMENT OF CHILDREN WITH AGANGLIONOSIS AFTER TOTAL COLECTOMY.

Authors:
V Prytula O Kurtash

Georgian Med News 2021 Feb(311):115-120

2Ivano-Frankivsk National Medical University, Ukraine.

The object of the study is to develop optimal reconstructive functional reservoirs for the treatment of children with aganglionosis after total colectomy. Since 1980 till 2020 we have been treating 53 children up to 3 years with aganglionosis after total colectomy using optimal reconstructive surgery technique lying in the formation of a functional intestinal reservoir. Colostomy was performed as the first stage of surgical treatment of all children. Read More

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February 2021

The usefulness of olive oil enema in children with severe chronic constipation.

J Pediatr Surg 2021 Mar 26. Epub 2021 Mar 26.

Department of Pediatric Surgery, Kobe Children's Hospital. 1-6-7, Minatojima Minamimach, Chuoku, Kobe, Japan 650-0047.

Purpose: Few reports have determined the efficacy of olive oil enemas for severe constipation. Here, we review our experience with olive oil enemas in children with severe chronic constipation.

Methods: In our outpatient pediatric surgery department, the charts of 118 patients prescribed with olive oil enemas between January 2010 and November 2019 were retrospectively reviewed. Read More

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The Role of Gene in Health and Disease: Beyond Treacher Collins Syndrome.

Int J Mol Sci 2021 Mar 1;22(5). Epub 2021 Mar 1.

Department of Biochemistry and Molecular Biology, Centre of Postgraduate Medical Education, 01-813 Warsaw, Poland.

The nucleoli are membrane-less nuclear substructures that govern ribosome biogenesis and participate in multiple other cellular processes such as cell cycle progression, stress sensing, and DNA damage response. The proper functioning of these organelles is ensured by specific proteins that maintain nucleolar structure and mediate key nucleolar activities. Among all nucleolar proteins, treacle encoded by gene emerges as one of the most crucial regulators of cellular processes. Read More

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NOX5 is expressed aberrantly but not a critical pathogenetic gene in Hirschsprung disease.

BMC Pediatr 2021 Mar 30;21(1):153. Epub 2021 Mar 30.

Department of Pediatric Surgery, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, 1095 Jiefang Ave, Wuhan, 430030, China.

Background: Hirschsprung disease (HSCR) is a congenital disorder characterized by the absence of intramural ganglion cells in the distal gastrointestinal tract (GI), which results in tonic contraction of the aganglionic gut segment and functional intestinal obstruction. Recent studies have suggested NADPH oxidase 5 (NOX5) as a candidate risk gene for HSCR. In this study, we examined the function of NOX5 to verify its role in the development of the enteric nervous system (ENS). Read More

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Skip Segment Hirschsprung Disease Managed by Pull-Through of the Right Colon.

European J Pediatr Surg Rep 2021 Jan 25;9(1):e28-e32. Epub 2021 Mar 25.

Division of Colorectal and Pelvic Reconstructive Surgery, Children's National Medical Center, Washington, District of Columbia, United States.

Hirschsprung disease is the most common neurocristopathy in children, resulting in the congenital loss of enteric ganglia. Rare reports of skip lesions have previously been reported in the literature. We present a case of skip lesions known prior to surgery and managed by pull-through of the right colon that allowed the preservation of the colon. Read More

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January 2021

The enteric nervous system in gastrointestinal disease etiology.

Cell Mol Life Sci 2021 Mar 26. Epub 2021 Mar 26.

Department of Pathology, GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, The Netherlands.

A highly conserved but convoluted network of neurons and glial cells, the enteric nervous system (ENS), is positioned along the wall of the gut to coordinate digestive processes and gastrointestinal homeostasis. Because ENS components are in charge of the autonomous regulation of gut function, it is inevitable that their dysfunction is central to the pathophysiology and symptom generation of gastrointestinal disease. While for neurodevelopmental disorders such as Hirschsprung, ENS pathogenesis appears to be clear-cut, the role for impaired ENS activity in the etiology of other gastrointestinal disorders is less established and is often deemed secondary to other insults like intestinal inflammation. Read More

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Hirschsprung Disease in an Infant with L1 syndrome: Report of a New Case and a novel variant.

Clin Case Rep 2021 Mar 4;9(3):1518-1523. Epub 2021 Feb 4.

Department of Pediatrics Saint Louis University School of Medicine St. Louis MO USA.

L1syndrome is an X-linked disorder manifesting with congenital hydrocephalus, adducted thumbs and spasticity. There are rare cases of L1 syndrome and coincident Hirschsprung disease, with mutations in the gene thought to underlie both. We present a novel pathogenic variant in someone with L1 syndrome and Hirschsprung disease. Read More

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Laparoscopic histological mapping for the determination of the length of aganglionic segment in children with Hirschsprung disease.

Adv Clin Exp Med 2021 Mar;30(3):233-237

Department of Pediatric Surgery, University Children's Hospital, Jagiellonian University Medical College, Kraków, Poland.

Background: Modern approach to the surgical treatment of Hirschsprung's disease (HD) consists in the earliest possible repair and reduction of the number of surgical interventions. Primary one-stage transanal endorectal pull-through (TEPT) technique requires preoperative determination of the length of aganglionic segment. The efficacy of the standard method - contrast enema - is questionable in patients with a poorly defined transitional zone. Read More

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Genome-wide analysis of DNA methylation in Hirschsprung enteric precursor cells: unraveling the epigenetic landscape of enteric nervous system development.

Clin Epigenetics 2021 Mar 9;13(1):51. Epub 2021 Mar 9.

Department of Maternofetal Medicine, Genetics and Reproduction, Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío/CSIC/University of Seville, 41013, Seville, Spain.

Background: Hirschsprung disease (HSCR, OMIM 142623) is a rare congenital disorder that results from a failure to fully colonize the gut by enteric precursor cells (EPCs) derived from the neural crest. Such incomplete gut colonization is due to alterations in EPCs proliferation, survival, migration and/or differentiation during enteric nervous system (ENS) development. This complex process is regulated by a network of signaling pathways that is orchestrated by genetic and epigenetic factors, and therefore alterations at these levels can lead to the onset of neurocristopathies such as HSCR. Read More

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A pediatric colorectal and pelvic reconstruction course improves content exposure for pediatric surgery fellows: A three-year consecutive study.

J Pediatr Surg 2021 Feb 20. Epub 2021 Feb 20.

Division of Colorectal and Pelvic Reconstruction, Children's National Hospital, Washington DC, United States.

Purpose: Interactive courses play an important role in meeting the educational needs of pediatric surgical trainees. We investigated the impact of a multimodal pediatric colorectal and pelvic reconstruction course on pediatric surgery trainees.

Methods: A retrospective evaluation was performed of pre- and post-course surveys for an annual colorectal and pelvic reconstruction course over 3 consecutive years (2017-2019). Read More

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February 2021