5,455 results match your criteria Hirschsprung Disease

Mutations in rhodopsin, endothelin B receptor, and CC chemokine receptor 5 in large animals: Modeling human diseases.

Prog Mol Biol Transl Sci 2022 14;189(1):155-178. Epub 2022 Mar 14.

Department of Anatomy, Physiology and Pharmacology, College of Veterinary Medicine, Auburn University, Auburn, AL, United States. Electronic address:

G protein-coupled receptors (GPCRs) are the largest family of cell membrane receptors involved in modulating almost all physiological processes by transducing extracellular signals into the cytoplasm. Dysfunctions of GPCR-regulated signaling result in diverse human diseases, making GPCRs the most popular drug targets for human medicine. Large animals share higher similarities (in physiology and metabolism) with humans than rodents. Read More

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Social media communities for patients and families affected by congenital pediatric surgical conditions.

Pediatr Surg Int 2022 May 19. Epub 2022 May 19.

International Center for Colorectal and Urogenital Care, Division of Pediatric Surgery, Anschutz Medical Campus, Children's Hospital Colorado, 13213 E 16th Ave, Box 323, Aurora, CO, 80045, USA.

Background: Social media has become a means to allow individuals affected by rare diseases to connect with others. This study aimed to characterize the use of three popular social media platforms by individuals affected by common pediatric surgery index conditions.

Methods: A systematic search of Instagram, Facebook, and Twitter was performed using standardized terms for the following pediatric surgical conditions: anorectal malformation, biliary atresia, bronchopulmonary sequestration, congenital diaphragmatic hernia (CDH), congenital pulmonary airway malformation, duodenal atresia, esophageal atresia/tracheoesophageal fistula (EA/TEF), gastroschisis, Hirschsprung disease (HD), and omphalocele. Read More

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RET in breast cancer: pathogenic implications and mechanisms of drug resistance.

Cancer Drug Resist 2019 19;2(4):1136-1152. Epub 2019 Dec 19.

U.O.C. Medical Genetics, IRCCS Istituto Giannina Gaslini, Genoa 16147, Italy.

Initiation, progression, outcome and sensibility to therapies in breast cancer (BC), the most frequent cancer in women, are driven by somatic and germline mutations. Although the effectiveness of hormonal therapies is well-founded, it is prescribed for cancers which express steroid hormone receptors, such as estrogen receptor (ER). is a proto-oncogene encoding a transmembrane tyrosine kinase receptor that is activated by one of its four ligands (GDNF, neurturin, artemin or persephin) and one of its coreceptors (Gfrα1-4). Read More

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December 2019

How to Heal the Gut's Brain: Regeneration of the Enteric Nervous System.

Int J Mol Sci 2022 Apr 27;23(9). Epub 2022 Apr 27.

Department of Integrative Biology, Michigan State University, East Lansing, MI 48824, USA.

The neural-crest-derived enteric nervous system (ENS) is the intrinsic nervous system of the gastrointestinal (GI) tract and controls all gut functions, including motility. Lack of ENS neurons causes various ENS disorders such as Hirschsprung Disease. One treatment option for ENS disorders includes the activation of resident stem cells to regenerate ENS neurons. Read More

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Constipation in Children and Adolescents: Evaluation and Treatment.

Am Fam Physician 2022 May;105(5):469-478

Beaumont Hospital, Troy, MI, USA.

Constipation in children is usually functional constipation without an organic cause. Organic causes of constipation in children, which include Hirschsprung disease, cystic fibrosis, and spinal cord abnormalities, commonly present with red flag signs and symptoms. A history and physical examination can diagnose functional constipation using the Rome IV diagnostic criteria. Read More

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Multidrug-Resistant Developed During Treatment of Ommaya Reservoir Infection.

Int Med Case Rep J 2022 3;15:231-234. Epub 2022 May 3.

Department of Pediatrics, Okinawa Prefectural Nanbu Medical Center and Children's Medical Center, Okinawa, 901-1193, Japan.

, a common component of the skin and mucosal microbiota of both immunocompetent and immunocompromised individuals, has become an emerging pathogen, colonizing indwelling medical devices and causing infections at multiple sites. A 3-year-old boy with an Ommaya reservoir in the right ventricle and a medical history of grade 3 intraventricular hemorrhage, Hirschsprung disease, catheter-related methicillin-resistant bacteremia, and congenital central hypoventilation syndrome was hospitalized for Ommaya reservoir infection with . He was treated with ampicillin, to which the initial isolate was susceptible. Read More

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Diagnostic accuracy of calretinin and acetylcholinesterase staining of rectal suction biopsies in Hirschsprung disease examined by unexperienced pathologists.

Virchows Arch 2022 May 5. Epub 2022 May 5.

Department of Paediatric Surgery, Emma Children's Hospital, Amsterdam UMC, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.

Rectal suction biopsy (RSB) is a gold standard for diagnosing Hirschsprung disease (HD). Calretinin staining of RSB is increasingly used by experienced pathologists due to non-complex examination and comparable diagnostic accuracy with acetylcholinesterase (AChE). However, the diagnostic accuracy of calretinin examined by unexperienced pathologists remains to be elucidated. Read More

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Toxicity of phosphate enemas - an updated review.

Clin Toxicol (Phila) 2022 Jun 5;60(6):672-680. Epub 2022 May 5.

Pharmacology, Toxicology & Therapeutics, Centre for Cardiovascular Science, University of Edinburgh, Edinburgh, UK.

Introduction: Enemas containing phosphate are widely prescribed and may cause important adverse effects. A systemic review published in 2007 reported the literature on the adverse effects of phosphate enemas from January 1957 to March 2007 and identified 12 deaths. These were thought due to electrolyte disturbances, heart failure and kidney injury. Read More

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Long-term functional outcomes of patients with Hirschsprung disease following pull-through.

BMC Pediatr 2022 05 3;22(1):246. Epub 2022 May 3.

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: Hirschsprung disease (HSCR) is a common congenital disorder presenting with functional obstruction due to aganglionosis of the colon. There are numerous types of pull-through surgery for managing HSCR, such as transabdominal endorectal (Soave), Swenson, Duhamel, transanal endorectal pull-through (TEPT), and laparoscopic (Georgeson) approach. Here, we aimed to describe the long-term outcome of patients with HSCR who underwent transabdominal Soave, Duhamel, and TEPT in our institution. Read More

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Case Reports of Cow's Milk Protein Allergy Presenting as Delayed Passage of Meconium With Early Onset Infant Constipation.

Front Pediatr 2022 15;10:858476. Epub 2022 Apr 15.

Department of Pediatrics, Gastroenterology, Hepatology, and Nutrition, University of Florida, Gainesville, FL, United States.

A cellular proliferation to milk allergens has been found in the cord blood cells of neonates. While this reflects a sensitivity during the fetal life, its clinical significance and disease, particularly its unconventional presentations, have remained largely unrecognized by care providers. Here, we report three cases of infants whose mothers consumed dairy products during pregnancy, who developed a severely constipated pre- and postnatal bowel. Read More

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Health-related quality of life in children with Hirschsprung disease and children with functional constipation: Parent-child variability.

J Pediatr Surg 2022 Apr 23. Epub 2022 Apr 23.

Department of Anesthesiology and Pain Medicine, University of Washington School of Medicine, Seattle, WA, USA; Seattle Children's Research Institute, M/S CURE-3, PO Box 5371, Seattle, WA 98145, USA.

Background: Health-related quality of life (HRQOL) is an important outcome among children with Hirschsprung Disease (HD), but there are challenges in interpreting findings in previous studies owing to the choice of a comparator group and informant. We compared parent-proxy versus child self-report HRQOL in children with HD to children with functional constipation (FC) and examined predictors of HRQOL.

Methods: Data of 126 children (5-18 years, 60. Read More

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Asa G Yancey: The first to describe a modification of the Swenson Technique for Hirschsprung disease.

J Pediatr Surg 2022 Apr 8. Epub 2022 Apr 8.

Division of General and Thoracic Surgery, Seattle Children's Hospital, Seattle, WA, USA. Electronic address:

Hirschsprung disease is a common disease treated by surgeons using different approaches. One approach is eponymously ascribed to Franco Soave and Scott Boley involving a pull-through of ganglionated colon through a distal portion of aganglionated rectum. However, more recent evidence has shown that this same technique was described twelve years before by Asa Yancey, a black surgeon. Read More

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Dental pulp stem cells as a therapy for congenital entero-neuropathy.

Sci Rep 2022 Apr 28;12(1):6990. Epub 2022 Apr 28.

Department of Pediatric Surgery, Kyushu University Graduate School of Medical Sciences, Fukuoka, Japan.

Hirschsprung's disease is a congenital entero-neuropathy that causes chronic constipation and intestinal obstruction. New treatments for entero-neuropathy are needed because current surgical strategies have limitations5. Entero-neuropathy results from enteric nervous system dysfunction due to incomplete colonization of the distal intestine by neural crest-derived cells. Read More

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Probiotics for the prevention of Hirschsprung-associated enterocolitis.

Cochrane Database Syst Rev 2022 04 26;4:CD013714. Epub 2022 Apr 26.

Evidence-Based Medicine Center, School of Basic Medical Sciences, Lanzhou University, Lanzhou, China.

Background: Hirschsprung-associated enterocolitis (HAEC) is a leading cause of serious morbidity and potential mortality in children with Hirschsprung's disease (HD). People with HAEC suffer from intestinal inflammation, and present with diarrhoea, explosive stools, and abdominal distension. Probiotics are live microorganisms with beneficial health effects, which can optimise gastrointestinal function and gut flora. Read More

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Laparoscopic Complete Excision of the Posterior Muscular Cuff: Technique Refinements and Comparison With Stepwise Gradient Muscular Cuff Cutting for Hirschsprung Disease.

Front Pediatr 2022 5;10:578843. Epub 2022 Apr 5.

Department of Pediatric, General Thoracic and Urinary Surgery, Affiliated Hospital of Zunyi Medical University, Zunyi, China.

Objectives: Our institution had modified the Soave pull-through procedure using laparoscopic stepwise gradient muscular cuff cutting (LSGC) for Hirschsprung disease (HSCR). However, we found that a few children still suffered from obstructive symptoms and enterocolitis during the follow-up. Previous studies suggested that these symptoms might be caused by the retained muscular cuff. Read More

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Risk factors of enterostomy in neonates with Hirschsprung disease.

Int J Colorectal Dis 2022 May 21;37(5):1127-1132. Epub 2022 Apr 21.

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

Purpose: This study was aiming to explore the risk factors contributing to enterostomy in neonates with Hirschsprung disease (HD) to provide a reference for clinicians to make treatment decisions.

Methods: Medical records of 284 patients diagnosed with HD during the neonatal period were retrospectively analyzed. The patients were divided into 2 groups based on operative intervention (one stage transanal pull-through, versus enterotomy and staged transanal pull-through). Read More

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Letter to the editor re initial experience with per-rectal endoscopic myotomy for Hirschsprung's disease.

Endoscopy 2022 May 21;54(5):525. Epub 2022 Apr 21.

Department of Surgery, University of Hong Kong, Queen Mary Hospital, Hong Kong, Hong Kong.

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The impact of NRG1 expressions and methylation on multifactorial Hirschsprung disease.

BMC Pediatr 2022 04 20;22(1):216. Epub 2022 Apr 20.

Department of Child Health/Genetics Working Group, Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada/UGM Academic Hospital, Yogyakarta, 55291, Indonesia.

Background: Hirschsprung disease (HSCR) is a complex genetic disorder characterized by the lack of ganglion cells in the intestines. A current study showed that the NRG1 rare variant frequency in Indonesian patients with HSCR is only 0.9%. Read More

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The gene encodes RET protein, which triggers intracellular signaling pathways for enteric neurogenesis, and mutation results in Hirschsprung's disease.

AIMS Neurosci 2022 16;9(1):128-149. Epub 2022 Mar 16.

Department of Anatomy, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Karnataka, 576104, India.

Enteric neurons and ganglia are derived from vagal and sacral neural crest cells, which undergo migration from the neural tube to the gut wall. In the gut wall, they first undergo rostrocaudal migration followed by migration from the superficial to deep layers. After migration, they proliferate and differentiate into the enteric plexus. Read More

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Per-Anal Endoscopic Myotomy as Rescue Therapy for Hirschsprung Disease After Unsuccessful Surgical Myectomy.

ACG Case Rep J 2022 Apr 7;9(4):e00755. Epub 2022 Apr 7.

Department of Pathology, Centro Medico Docente La Trinidad, Caracas, Venezuela.

Hirschsprung disease (HD) may affect short, ultrashort, or long segments of the rectum. Invasive endoscopy has gained popularity in its treatment. We report a case of a 9-year-old girl diagnosed with HD at 4-year-old, at which time she underwent a myectomy. Read More

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Transition and reversal: long-term experience of the MACE procedure in children.

Pediatr Surg Int 2022 Jun 8;38(6):883-889. Epub 2022 Apr 8.

Queen's Medical Centre, Nottingham, NG7 2UH, UK.

Purpose: Analysis of outcomes and follow-up of children who underwent the Malone antegrade continence enema (MACE) procedure in a UK tertiary paediatric surgery unit.

Methods: Children who underwent a MACE procedure from 1998 to 2020 were identified. Demographic and clinical data were obtained from contemporaneous records. Read More

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Palisading-like arrangement of immature ganglion cell in myenteric ganglia is a unique pathological feature of immaturity of ganglia.

J Pediatr Surg 2022 Mar 13. Epub 2022 Mar 13.

Fukuoka College of Health Sciences, 2-15-1 Tamura, Sawara-ku, Fukuoka 814-0193, Japan.

Background: Immaturity of ganglia (IG), an allied disorder of Hirschsprung disease (AD-HSCR), develops as neonatal ileus, but the dysmotility spontaneously resolves after several months. The diagnosis of IG using HE staining is often difficult. We herein report a new pathological finding of IG called the 'palisading-like pattern', which may be helpful for improving the diagnostic accuracy. Read More

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Is There Any Mosaicism in Variant in Hirschsprung Disease's Patients?

Front Pediatr 2022 10;10:842820. Epub 2022 Mar 10.

Pediatric Surgery Division, Department of Surgery/Genetics Working Group, Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada/Dr. Sardjito Hospital, Yogyakarta, Indonesia.

Background: Hirschsprung disease (HSCR) is a heterogeneous genetic disease characterized by the absence of ganglion cells in the intestinal tract. The is the most responsible gene for its pathogenesis. RET's somatic mosaicisms have been reported for HSCR; however, they are still under-recognized. Read More

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Risk factors for complications in patients with Hirschsprung disease while awaiting surgery: Beware of bowel perforation.

J Pediatr Surg 2022 Mar 2. Epub 2022 Mar 2.

Department of Pediatric Surgery, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam and Vrije Universiteit Amsterdam, Amsterdam Gastroenterology and Metabolism Research Institute and Amsterdam Reproduction and Development Research Institute, Meibergdreef 9, Amsterdam 1105 AZ, the Netherland.

Background: Patients with Hirschsprung disease (HD) mostly undergo surgery around the age of three to six months. While awaiting surgery, therapy to treat the obstruction such as transanal irrigation (TAI) or laxatives is applied. The aim of this study was to gain insight in the prevalence and severity of complications occurring while awaiting surgery and to identify patient characteristics associated with the development of these complications. Read More

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Hirschsprung disease and Paediatric Intestinal Pseudo-obstruction.

Best Pract Res Clin Gastroenterol 2022 Feb-Mar;56-57:101765. Epub 2021 Sep 18.

Stem Cells and Regenerative Medicine, UCL Great Ormond Street Institute of Child Health, London, WC1N 1EH, United Kingdom; Gastroenterology, Hepatology and Liver Transplant, Queensland Children's Hospital, Brisbane, Queensland, 4101, Australia. Electronic address:

Hirschsprung disease (HSCR) and Paediatric Intestinal Pseudo-obstruction (PIPO) comprise two of the most recognized and severe disorders of gastrointestinal (GI) motility. HSCR is a developmental disorder of the enteric nervous system invariably affecting the large intestine, whereas the majority of PIPO conditions represent congenital disorders of one or more components of the neuromusculature and more diffusely affect the GI tract. Histopathology is deemed the gold standard for the diagnosis of HSCR and, arguably, of PIPO, but, other diagnostic modalities such as manometric and genetic studies have seen recent advances that may increase their utility. Read More

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The abnormal phosphorylation of the Rac1, Lim-kinase 1, and Cofilin proteins in the pathogenesis of Hirschsprung's disease.

Bioengineered 2022 04;13(4):8548-8557

Department of Pediatric General, Thoracic & Urological Surgery II Ward, Affiliated Hospital of Zunyi Medical University, Zunyi, China.

Rac1 can affect the migration of neural crest cells by regulating the polymerization of actin and the membrane formation process. But the role of the Rac1 signaling pathway in the pathogenesis of Hirschsprung's disease (HSCR) remains unclear. In order to investigate the mechanism of the abnormal protein phosphorylation of Rac1, Lim-kinase 1 (Limk1) and Cofilin involved in the pathogenesis of HSCR. Read More

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LncRNA-RMST Functions as a Transcriptional Co-regulator of SOX2 to Regulate miR-1251 in the Progression of Hirschsprung's Disease.

Front Pediatr 2022 7;10:749107. Epub 2022 Mar 7.

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

Hirschsprung's disease (HSCR) is a congenital disorder characterized by the absence of enteric neural crest cells (ENCCs). LncRNA rhabdomyosarcoma 2-associated transcript (RMST) is essential for the growth and development of neuron. This study aimed to reveal the role of RMST in the pathogenesis of HSCR. Read More

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Familial Experience With Hirschsprung's Disease Improves the Patient's Ability to Cope.

Front Pediatr 2022 7;10:820976. Epub 2022 Mar 7.

Division of Pediatric Surgery, Department of Surgery, University Medical Center Groningen, University of Groningen, Groningen, Netherlands.

Introduction: Familial occurrence of Hirschsprung's disease may have a positive effect on patients' ability to cope with the disease. The aim was to compare long-term bowel function and generic quality of life between patients with familial and non-familial Hirschsprung's disease.

Methods: This was a nationwide, cross-sectional study in which we included all 830 Hirschsprung patients of 8 years and older who had undergone surgery between 1957 and 2015. Read More

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Waardenburg-Shah syndrome rare and challenging case report from Somalia.

Int J Surg Case Rep 2022 Apr 15;93:106952. Epub 2022 Mar 15.

Pediatric Surgery Department in Mogadishu Somali Turkish Training and Research Hospital, Mogadishu, Somalia.

Introduction And Importance: Waardenburg-Shah disorder could be an uncommon autosomal recessive inherited ailment characterized by aganglionic megacolon with a high mortality rate. Babies born with Waardenburg syndrome may have typical features of hair, skin and eye pigmentary abnormalities, and hearing loss. Here we present a case with typical presentation of Waardenburg Shah syndrome. Read More

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