7,416 results match your criteria: "Hirschsprung Disease"

Introduction Pediatric robotic colorectal surgery has rapidly evolved, offering enhanced precision and safety for treating complex conditions such as Hirschsprung disease (HSCR), anorectal malformations (ARM), and inflammatory bowel disease (IBD). This review analyzes recent trends, outcomes, and complications in robotic colorectal procedures for pediatric patients. Materials and Methods A systematic review was performed using PubMed, yielding 1,112 articles related to pediatric robotic colorectal surgery.

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Background: Colorectal surgical procedures may benefit from a minimally invasive approach in children, although there are few studies.

Methods: A retrospective, single-centre observational study was conducted on paediatric patients who underwent colorectal robotic-assisted surgery between 2011 and 2022.

Results: A total of 50 patients (33 male; 17 female) were included, with a median age of 4.

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Hirschsprung's disease is a congenital condition characterized by the absence of ganglion cells in the intestines, leading to bowel obstruction. The lack of ganglion cells disrupts the normal motility of the intestines, causing a functional obstruction. This can lead to enterocolitis, an inflammation of the intestines, which is a serious complication in infants with Hirschsprung's disease.

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RMST: A long noncoding RNA involved in cancer and disease.

J Biochem

November 2024

Department of Health Pharmacy, Yokohama University of Pharmacy, 601 Matano, Totsuka, Yokohama, 245-0066, Japan.

Long non-coding RNA Rhabdomyosarcoma 2-associated Transcript (RMST) is a crucial regulator in various biological processes, particularly in neurogenesis and cancer progression. This review summarizes current knowledge on structure, expression patterns, and functional roles across different organs and diseases of RMST. RMST exhibits tissue-specific expression, notably in brain tissues and vascular endothelial cells, and plays a significant role in neuronal differentiation through interaction with SRY-box 2 (SOX2).

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Background: The efficacy of transanal endorectal pull-through (TERPT) in treating classic Hirschsprung's disease may be enhanced by incorporating laparoscopic-assisted endorectal pull-through (LERPT). This study was done to compare the long-term outcomes of TERPT and LERPT in the treatment of classic segment Hirschsprung's disease.

Methods: Longitudinal study.

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Single Incision Laparoscopic Surgery for Malone Antegrade Continent Enema: Optimizing Outcomes in Pediatric Bowel Management.

J Pediatr Surg

November 2024

Comprehensive Colorectal Center, Department of Surgery, Children's Mercy Kansas City, Kansas City, MO, USA; Department of Surgery, University of Missouri-Kansas City, Kansas City, MO 64108, USA. Electronic address:

Background: Malone antegrade continence enemas (MACE) are increasingly being used to manage severe constipation and fecal incontinence in children. Despite advances in minimally invasive pediatric colorectal surgery, single-incision laparoscopic surgery (SILS) for MACE creation remains relatively unexplored. This study, featuring the largest cohort to date, evaluates the feasibility, safety, and clinical outcomes of SILS MACE creation in children.

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Background: Hirschsprung associated enterocolitis (HAEC) is a challenging problem in a subset of children with Hirschsprung disease (HD). In refractory cases, fecal diversion may be required. The aim of this study was to characterize patients who require fecal diversion for HAEC management and examine their long-term outcomes.

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Gastrointestinal quality of life in children born with gastroschisis.

Pediatr Surg Int

December 2024

Department of Pediatric Surgery, Queen Silvia Children's Hospital, Sahlgrenska University, Hospital, Institute of Clinical Sciences, Sahlgrenska Academy, Gothenburg University, 416 85, Gothenburg, Sweden.

Article Synopsis
  • The study assessed the gastrointestinal-related quality of life (QoL) in children aged 2-18 who were born with gastroschisis (GS) by utilizing the PedsQL™ gastrointestinal symptoms module.
  • A total of 58 families participated, revealing that children with GS reported lower scores in areas like "Gas and bloating" compared to those with esophageal atresia (EA).
  • The findings indicated that while GS affects QoL similarly to EA, it is less impactful than conditions like Hirschsprung's disease (HD) and functional constipation (FC), suggesting the need for targeted follow-up care based on specific GS-related clinical factors.
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[Clinical features and genetic analysis of two children with Mowat-Wilson syndrome due to variants of ZEB2 gene].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi

December 2024

Ningbo Key Laboratory for the Prevention and Treatment of Embryogenic Diseases, Central Laboratory of Birth Defects Prevention and Control, the Affiliated Women and Children's Hospital of Ningbo University, Ningbo, Zhejiang 315012, China.

Objective: To explore the clinical features and genetic variants in two children with Mowat-Wilson syndrome (MWS).

Methods: Two children admitted to the Affiliated Women and Children's Hospital of Ningbo University respectively in May and October 2022 were selected as the study subjects. Clinical data of the patients were collected.

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Two major ligand-receptor signaling axes - endothelin Edn3 and its receptor Ednrb, and glial-derived neurotrophic factor (GDNF) and its receptor Ret - are required for migration of enteric nervous system (ENS) progenitors to the hindgut. Mutations in either component cause colonic aganglionosis, also called Hirschsprung disease. Here, we have used Wnt1Cre and Pax2Cre in mice to show that these driver lines label distinct ENS lineages during progenitor migration and in their terminal hindgut fates.

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Health literacy in parents of children with Hirschsprung disease: a novel study.

Pediatr Surg Int

December 2024

Department of Gastrointestinal and Pediatric Surgery, Oslo University Hospital, Rikshopitalet, Postboks 4950 Nydalen, 0424, Oslo, Norway.

Article Synopsis
  • The study investigates health literacy (HL) in parents of children with Hirschsprung disease (HD) in Norway, assessing their understanding of health information and engagement levels.
  • Among 132 surveyed parents, high HL was noted in understanding health information and engaging actively, but lower scores were seen in areas like provider support and social support.
  • The findings highlight a need for targeted interventions to assist parents, particularly those who are younger, less educated, living apart from their child's other parent, or not primarily speaking Norwegian at home.
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Bowel perforation in neonates with Hirschsprung disease: a case series and literature review.

Pediatr Surg Int

December 2024

Department of Neonatal Surgery, National Center for Children's Health, Beijing Children Hospital, Capital Medical University, 56 Nanlishi Road, Beijing, 100045, China.

Article Synopsis
  • * Data was gathered from 300 neonates with HD, revealing that 6.0% (18) experienced bowel perforation, predominantly in the proximal ganglionic segment, with most cases involving short-segment (38.9%) or long-segment (50.0%) HD.
  • * All affected neonates underwent timely surgery, primarily stoma creation, which led to no reported deaths, although some faced postoperative complications like stoma retraction and bowel obstruction.
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Diagnosing Hirschsprung Disease in Children Older than Six Months of Age: Complications After Rectal Biopsy, Insight in Final Diagnoses and Factors Associated With Hirschsprung Disease.

J Pediatr Surg

November 2024

Amsterdam UMC Location University of Amsterdam, Department of Pediatric Surgery, Meibergdreef 9, Amsterdam, The Netherlands; Amsterdam Gastroenterology Endocrinology and Metabolism Research Institute, Amsterdam, The Netherlands; Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands.

Introduction: It is challenging to distinguish between patients with Hirschsprung disease (HD) and patients with other causes of defecation problems based on clinical presentation in patients older than six months. Pathological examination of the rectal biopsy is the gold standard for the diagnosis of HD. The aim of this study was to gain insight into 1) the prevalence and severity of complications following rectal biopsy, 2) the final diagnoses of patients referred for biopsy, and 3) clinical factors associated with HD in patients older than six months.

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Causes and consequences: development and pathophysiology of Hirschsprung disease.

World J Pediatr Surg

November 2024

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

Hirschsprung disease (HSCR) is a congenital enteric neuropathy in which the enteric nervous system (ENS) fails to develop along variable lengths of the distal gastrointestinal (GI) tract. This aganglionosis results in a functional bowel obstruction and requires surgical resection of the aganglionic segment. Despite surgery, however, long-term bowel dysfunction affects many patients.

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Introduction: The assessment of bowel function in patients with Hirschsprung disease (HD) remains controversial, as several different bowel function scores are used in the literature and are therefore not suitable for reliable comparison. Conference Section: The OASIS-Holistic Care in Hirschsprung Disease Network Group addressed this issue and evaluated the most commonly used scores for their utility in HD patients. Scoping Review and Expert Group Consensus were performed.

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Article Synopsis
  • Constipation in children is characterized by symptoms like infrequent, painful, or hard stools, highlighting its significance as a common health issue.
  • A study conducted from April 2019 to January 2020 at CHU Gabriel Touré assessed 75 pediatric patients aged 0 to 15 meeting specific criteria, finding a high prevalence of constipation, particularly in younger children.
  • Most cases were functional, with laxatives being commonly prescribed, while Hirschsprung disease was the leading cause of organic constipation.
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Article Synopsis
  • Hirschsprung's disease is a congenital condition where no ganglion cells are present in the colon, affecting its ability to move waste; it can often be misdiagnosed, even into adulthood.
  • A case study of a 20-year-old male showed that after years of untreated chronic constipation, he faced an intestinal obstruction that led to emergency surgery and a diagnosis of Hirschsprung's disease.
  • The treatment involved Soave-type surgery, which was successful, and the study suggests that adults with long-term constipation issues may need to be evaluated for this disease.
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Objectives: The management of total colonic aganglionosis (TCA) in low-middle income countries (LMIC) is challenging. We aimed to analyze the profile, management, and outcome of patients with TCA at an Indian referral centre.

Methods: A retrospective review of demography, presentation, investigations, and treatment of patients with TCA at a single centre over 22 years with a standardized protocol is detailed.

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Hirschsprung disease, a congenital disease characterized by the absence of ganglion cells, presents significant surgical challenges. Addressing a critical gap in intraoperative diagnostics, we introduce transformative artificial intelligence approach that significantly enhances the detection of ganglion cells in frozen sections. The data set comprises 366 frozen and 302 formalin-fixed-paraffin-embedded hematoxylin and eosin-stained slides obtained from 164 patients from 3 centers.

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Prevalence and Factors associated with Bowel Dysfunctions after Pull-Through Surgery in Children Diagnosed with Hirschsprung Disease.

Pediatr Gastroenterol Hepatol Nutr

November 2024

Department of Surgery, King Chulalongkorn Memorial Hospital, The Thai Red Cross Society, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.

Article Synopsis
  • The study examined bowel dysfunction prevalence in children with Hirschsprung disease (HD) after pull-through surgery, analyzing medical records from 2004 to 2022.
  • Out of 97 children studied, 64.95% experienced bowel dysfunction, with Hirschsprung-associated enterocolitis (HAEC) being the most common issue, affecting nearly half of the subjects.
  • Key findings indicated that previous HAEC, the type of surgical procedure (Duhamel operation), and the child's age at surgery (under 6 months) significantly correlated with post-surgery bowel dysfunction outcomes.
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Objective: To explore the role of daily trans-anal irrigation (TAI) before pull-through surgery in preventing Hirschsprung disease-associated enterocolitis (HAEC) and improving other clinical outcomes in short-segment Hirschsprung disease (HSCR).

Methods: We enrolled the children with short-segment HSCR who received primary pull-through surgery from February 2012 to August 2019 at our hospital. They were divided into two groups.

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