Acta Scientific Ophthalmology (ISSN: 2582-3191)

Review Article Volume 4 Issue 11

An Update on the Insight of Embryonic, Etiopathogenesis, Current Surgical Advances Besides the Advocated ERNICA Guidelines for the Management of Rectosigmoid Hirschsprung Disease, and Clinical Referral Score Model for Early Diagnosis with Future Use of Stem Cells - A Systematic Review

Kulvinder Kochar Kaur1*, Gautam Allahbadia2 and Mandeep Singh3

1Scientific Director, Dr Kulvinder Kaur Centre for Human Reproduction, Jalandhar, Punjab, India
2Scientific Director, Rotunda-A Centre for Human Reproduction, Mumbai, India
3Consultant Neurologist, Swami Satyan and Hospital, Jalandhar, Punjab, India

*Corresponding Author: Kulvinder Kochar Kaur, Scientific Director, Dr Kulvinder Kaur Centre for Human Reproduction, Jalandhar, Punjab, India.

Received: October 01, 2021 ; Published: October 26, 2021

×

Abstract

Hirschsprung disease (HSCR), represents a neurocristopathy, secondary to impairment in migration, proliferation, differentiation in addition to survival of the neural crest cells resulting in gut agangliosis. Its presentation is usually just following birth having an impact on 1/5000 live births all over the world. a significant enhancement in our insight with regards to genetics in addition to correlation with congenital anomalies, possessing a common etiopathogenetic mode of impairment of the generation of neural crest. Besides that various kinds of cell populations like Mast Cells as well as Interstitial cells of Cajal that do not take origin from the neural crest, yet aid In the generation of HSCR have got detailed. Further scientists have Concentrated on the variants of HSCR, that might simulate the Clinical signs but are separate conditions, that possess different treatment strategies in addition to separate prognosis. Thus we decided to conduct a systematic review, where we utilized the search engine pubmed, google scholar; web of science; embase; Cochrane review library utilizing the MeSH terms like embryonic; Early Diagnosis; enteric nervous system; neural crest cells; Vagal; agangliosis; hypogangliosis; dysgangliosis; receptor tyrosine kinase RET in ENS migration; Retinoic acid; congenital-hypothyroidism; thymus; Mast Cells; Interstitial cells of Cajal; associated congenital anomalies; pseudo- Hirschsprung disease animal studies; human studies; genetics; stem cells; induced pluripotent stem cells (iPSCs) variant HSCR; from 1985 to 2021 till date. We found a total of 10, 000 articles out of which we selected 67 articles for this updated review. No meta-analysis was done. thus early Diagnosis is essential, with surgical removal of the aganglioic area of the intestine. of Transanal endorectal pull-through (TEPT) is believed to be the better procedure yet several patients experience continuation of symptoms patients. Thus we have tried to discuss the future enhancement of results with the utilization of stem cells, induced pluripotent stem cells (iPSCs) in addition to tissue engineering for aid for the ones that experience recurrence In 30-50% post surgery.

Keywords: Hirschsprung Disease; Neural Crest Cells; Neurocristopathy; Mast Cells; Interstitial Cells of Cajal

×

References

  1. “Terminologia Embryologia”. 2ND ed. Federative International Programme for Anatomical Terminology (2017): 329.
  2. Torroglosa A., et al. “Epigenetics in ENS development and Hirschsprung disease”. Developmental Biology 417 (2016): 209-216.
  3. Bradnock TJ., et al. “Hirschsprung disease in the UK and Ireland: incidence and Anomalies”. Archives of Disease in Childhood 102 (2017): 722-727.
  4. Henderson D., et al. “Hirschsprung disease in twins :A systematic review and, meta-analysis”. Pediatric Surgery International 33 (2017): 855-859.
  5. Groerer S. “Paediatr. intestinal motility disorders”. World Journal of Gastroeterology 21 (2015): 9683-9687.
  6. , et al. “Functional outcomes in Hirschsprung disease:a single institutions 12 year experience”. Journal of Pediatric Surgery 52 (2017): 277-280.
  7. Roorda D., et al. “Redosurgry with longitudinal resection for dilated bowel in Hirschsprung disease. :an illustrtiv case series”. International Journal of Colorectal Disease 34 (2019): 1983-1987.
  8. Ahmad Wani S., et al. “Short term and long termoutcome of single stage trans anal pull through for Hirschsprung disease In neonates and infants”. Journal of Neonatology 9 (2020): 277.
  9. Rintala RJ and Pakarinen MP. “Long termoutcomes of Hirschsprung disease”. Seminars in Pediatric Surgery 21 (2012): 336-343.
  10. Sato TS., et al. “Neurocristopathies: Enigmatic appearances of neural crest cells derived abnormalities”. Radiographics 39 (2019): 2085-2102.
  11. LeDouarin NM and Dupin E. “The neural crest In vertebrate evolution”. Current Opinion in Genetics and Development 22 (2012): 381-389.
  12. Cordero DR., et al. “Cranial neural crest cells on the move:their roles In craniofascial development”. American Journal of Medical Genetics Part A 155 (2011): 270-279.
  13. Vega Lopez GA., et al. “Vagal neural crest cells: formation, migration and beyond”. The International Journal of Developmental Biology 61 (2017): 5-15.
  14. Wang X., et al. “Analysis of the sacral neural crest cells contribution to the hindgut enteric nervous system in the mouse embryo”. Gastroeterology 141 (2011): 992-1002. e6.
  15. Chan WY., et al. “Cardiac neural crest cells of the mouse embryo. :axial level of origin, migratory pathway and cell Anatomy of the splotch (SP2H)mutant effect”. Development 131 (2004): 3367-3379.
  16. Bronner Fraser M and LeDouarin NM. “Development and evolution of the neural crest: an overview”. Developmental Biology 366 (2012): 2-9.
  17. Zhang N., et al. “The neural crest: Aversatile organsystem”. Birth Defects Research Part C - Embryo Today: Reviews 102 (2014): 275-298.
  18. Rao M and Gershon MD. “Enteric nervous system Development :What could possibly go wrong?” Nature Reviews Neuroscience 19 (2018): 552-565.
  19. Goldstein AM and Copx NJ. “Complex simplicity and Hirschsprung disease”. The New England Journal of Medicine 380 (2019): 1478-1479.
  20. Stamp LA., et al. “Surgical intervention to rescue Hirschsprung disease in a rat model”. Journal of Neurogastroenterology 21 (2015): 552-559.
  21. Fujiwara N., et al. “Animal models of Hirschsprung disease:state of the art in translating experimental research on the bedside”. European Journal of Pediatric Surgery 29 (2019): 361-367.
  22. Belknap WM. “The pathogenesis of Hirschsprung disease”. Current Opinion in Gastroenterology 18 (2002): 74-81.
  23. Tjaden NEB and Trainor PA. “The Developmental etiology and pathogenesis of Hirschsprung disease”. Translational Research 162 (2013): 1-15.
  24. Tansey MG., et al. “GFR apha-mediated localization of RET to lipid rafts for effective downstream signaling differentiation and neuronal survival”. Neuron 25 (2000): 611-623.
  25. Natarajan D., et al. “Requirement of signaling by receptor tyrosine kinase RET for directed migration of enteric nervous system progenitor cells during mammalian embryogenesis”. Development 129 (2002): 5151-5160.
  26. Elworthy S., et al. “Phox2b function in the enteric nervous system is conserved in zebrafish and is sox10 dependent”. Mechanisms of Development 122 (2005): 659-669.
  27. Klein M and Varga I. “Hirschsprung disease-Recent understanding of embryonic aspects, etiopathogenesis and future treatment avenues”. Medicinas 56 (2020): 611.
  28. Simkin je., et al. “Retinoic acid upregulates Ret and induces chain migration and population expan sion In Vagal neural crest cells tocolonize the embryonic gut”. PLoS ONE 8 (2013): e64077.
  29. Fu Metal. “Vitamin A facilitates enteric nervous system precursor migration by reducing Pten accumulation”. Development 137 (2010): 631-640.
  30. Uribe RA., et al. “Retinoic acidtemporarily orchestrates colonization of the gut by Vagal neural crest cells”. Developmental Biology 433 (2018): 17-32.
  31. Slavikova T., et al. “An embryological point of view on associated congenital anomalies of children with Hirschsprung disease”. Bratislava Medical Journal 116 (2015): 640-647.
  32. Amiel J., et al. “Hirschsprung disease, associated syndromes and genetics: a review”. Journal of Medical Genetics 45 (2007): 1-14.
  33. Moore SW. “Chromosomal and related Mendelian syndromes associated with Hirschsprung disease”. Pediatric Surgery International 28 (2012): 1045-58.
  34. Moore SW. “The contribution of associated congenital anomalies in understanding Hirschsprung disease”. Pediatric Surgery International 22 (2006): 305-315.
  35. Kusch NL., et al. “Clinicoimmunologic comparisons of developmental defects of the large intestine in children”. Klinicheskaia khirurgiia (1988): 10-12.
  36. Itoi M., et al. “Mesenchymal cells are required for functional development of thymic epithelial cells”. International Immunology 19 (2007): 953-964.
  37. Foster K., et al. “Contribution of neural crest derivedcells In the embryonic and adult thymus”. Journal of Immunology 180 (2009): 3183-3189.
  38. Auso E., et al. “Moderate and transient deficiency of maternal thyroid function at the beginning of fetal neocorticogenesis alters neuronal migration”. Endocrinology 145 (2004): 4037-4047.
  39. Monroy-Santoyo S., et al. “Higher incidence of thyroid agenesis in Mexican newborns with congenital hypothyroidism associated with birth defects”. Early Human Development 88 (2012): 61-64.
  40. Varga I., et al. “The phylogenesis and ontogenesis of the human pharyngealregion focused on the thymus, parathyroid and thyroidglands”. Neuroendocrinology Letters 29 (2008): 837-845.
  41. Groerer S and Rolle U. “Interstitial cells of Cajal in the normal human Gut and in Hirschsprung disease”. Pediatric Surgery International 29 (2013): 889-897.
  42. Al-Shabol OA. “The importance of Interstitial cells of Cajal in the Gastrointestinal Tract”. Saudi Journal of Gastroenterology 19 (2013): 3-15.
  43. Radenkovic G., et al. “Development of Interstitial cells of Cajal in the human digestive tract as the result of induction of Mesenchymal and neural crest cells”. Journal of Cellular and Molecular Medicine 22 (2007): 778-795.
  44. Vanderwinden JM., et al. “Interstitial cells of Cajal and in Hirschsprung disease”. Gastroeterology 111 (1996): 992-901-10.
  45. Rolle U., et al. “Altered distribution of Interstitial cells of Cajal in Hirschsprung disease”. Archives of Pathology and Laboratory Medicine 126 (2002): 928-933.
  46. Newman CJ., et al. “Interstitial cells of Cajalare normally distributed in both ganglionated and aganglionic bowel in Hirschsprung disease”. Pediatric Surgery International 19 (2003): 662-668.
  47. Zhang L., et al. “Cotransplantation of neuroepithelial stem cells with Interstitial cells of Cajal improves neuronal differentiation in a rat aganglionic model”. Journal of Pediatric Surgery 51 (2017): 1188-1195.
  48. Ravanbakhsh N., et al. “The role of Mast Cells In Paediatr Gastrointestinal disease”. Annals of Gastroeterology 32 (2019): 338-345.
  49. Bischoff SC., et al. “Human Mast Cells, bacteria and intestinal motility”. Immunology Review 217 (2007): 329-337.
  50. Kobayashi H., et al. “Mast Cells and gut nerve development: implications for Hirschsprung disease and intestinal neuronal dysplasia”. Journal of Pediatric Surgery 34 (1999): 543-548.
  51. Demirbilek S., et al. “Mast Cells distribution and colonic mucin composition in Hirschsprung disease and intestinal neuronal dysplasia”. Pediatric Surgery International 17 (2001): 136-139.
  52. Hermanowicz A., et al. “Topography and morphometry of intestinal Mast Cells in children with Hirschsprung disease”. Folia Histochemica et Cytobiologica 46 (2008): 65-68.
  53. Das K and Mohanty S. “Hirschsprung disease-Current diagnosis and management”. Indian Journal of Pediatrics 84 (2017): 618-623.
  54. Moore SW. “Advances in understanding functional variations in the Hirschsprung disease spectrum (variant Hirschsprung disease)”. Pediatric Surgery International 33 (2016): 285-298.
  55. Szylberg L., et al. “Diagnosis of Hirschsprung disease with particular emphasis on histopathology:a systematic review of current literature”. Przegląd Gastroenterologiczny 9 (2014): 264-269.
  56. Friedmacher F., et al. “Classification and diagnostic criteria of variants of Hirschsprung disease”. Pediatric Surgery International 29 (2013): 885-872.
  57. Puri P. “Intestinal dysgangliosis and other duisorders of intestinal motility”. In Paediatr Surgery, 7th ed; Coran AG, Ed; Mosby: Philadelphia, PA, USA 102 (2012): 1279-1287.
  58. Ito T., et al. “Megacolon in an adult case of hypogangliosis, a pseudo- Hirschsprung disease:a autopsy study”. Internal Medicine 47 (2008): 421-425.
  59. Hanani M., et al. “Age related changes In the morphology of themyenteric plexus of the human colon”. Auton Neuroscience 113 (2004): 71-78.
  60. Gariele Ivana G., et al. “Functional outcomes of patients with short-segment Hirschsprung disease after transanal endorectal pull-through”. BMC Gastroenterology 21 (2021): 85.
  61. Rolle BN., et al. “Enteric neural cells from Hirschsprung disease patients form ganglia in autologous an neuron al colon”. Cellular and Molecular Gastroenterology and Hepatology 2 (2016): 92-109.
  62. , et al. “Neural crest cells Implantation restores enteric nervous system function and alters the Gastrointestinal Transcriptome in human tissue engineered small intestine”. Stem Cell Report 9 (2017): 883-896.
  63. Workman MJ., et al. “Engineered human pluripotent stem cells-derived intestinal tissues with a functional enteric nervous system”. Nature Medicine 23 (2017): 49-59.
  64. Csbonyeova M., et al. “Induced pluripotent stem cells and their implication for re generative medicine”. Cell Tissue Bank 16 (2014): 171-180.
  65. Jaroy EG., et al. “’Too much guts and not enoughbrains’’: (epi) Genetic mechanisms and future therapies of Hirschsprung disease”. Clinical Epigenetics 11 (2019): 1-11.
  66. Kyrklund K., et al. “ERNICA guidelines for the management of rectosigmoid Hirschsprung’s disease”. Orphanet Journal of Rare Diseases 15 (2020): 164.
  67. , et al. “Development of Clinical Referral Score Model for Early Diagnosis of Hirschsprung’s Disease in Suspected Pediatric Patients”. Healthcare 9 (2021): 678.
×

Citation

Citation: Kulvinder Kochar Kaur., et al. “An Update on the Insight of Embryonic, Etiopathogenesis, Current Surgical Advances Besides the Advocated ERNICA Guidelines for the Management of Rectosigmoid Hirschsprung Disease, and Clinical Referral Score Model for Early Diagnosis with Future Use of Stem Cells - A Systematic Review".Acta Scientific Ophthalmology 4.11 (2021): 64-72.




Metrics

Acceptance rate35%
Acceptance to publication20-30 days
ISI- IF0.782
JCR- IF0.24

Indexed In




News and Events


  • Certification for Review
    Acta Scientific certifies the Editors/reviewers for their review done towards the assigned articles of the respective journals.
  • Submission Timeline for Upcoming Issue
    The last date for submission of articles for regular Issues is December 15, 2021.
  • Publication Certificate
    Authors will be issued a "Publication Certificate" as a mark of appreciation for publishing their work.
  • Best Article of the Issue
    The Editors will elect one Best Article after each issue release. The authors of this article will be provided with a certificate of “Best Article of the Issue”.
  • Welcoming Article Submission
    Acta Scientific delightfully welcomes active researchers for submission of articles towards the upcoming issue of respective journals.
  • Contact US