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01-12-2023 | Comment

Translational research in Hirschprung’s disease at the National Children’s Research Centre in Dublin

Author: Anne Marie O’Donnell

Published in: Pediatric Surgery International | Issue 1/2023

Abstract

Hirschsprung’s disease (HD) is a congenital condition characterised by aganglionosis in the distal bowel. Over the years, at the National Children’s Research Centre (NCRC), HD has been one of the most prominent and successful research areas for Prof. Prem Puri’s research team. Research fellows from around the world came to the NCRC to work on both animal and human studies of HD and, cumulatively, made important discoveries in this field, publishing a total of 144 HD articles in peer-reviewed journals. Through their published work, the NCRC has been recognised as the leading international centre for the investigation of HD and its allied disorders. In this review, I will summarise the main findings from this work.

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Fujimoto T, Reen DJ, Puri P (1988) Inflammatory response in enterocolitis in the piebald lethal mouse model of Hirschsprung’s disease. Pediatr Res 24(2):152–155PubMed

Imamura A et al (1992) Mucosal immune defence mechanisms in enterocolitis complicating Hirschsprung’s disease. Gut 33(6):801–806PubMedPubMedCentral

Soeda J, O’Briain DS, Puri P (1992) Mucosal neuroendocrine cell abnormalities in the colon of patients with Hirschsprung’s disease. J Pediatr Surg 27(7):823–827PubMed

Nemeth L et al (2001) Three-dimensional morphology of gut innervation in total intestinal aganglionosis using whole-mount preparation. J Pediatr Surg 36(2):291–295PubMed

Kobayashi H et al (1995) Intraoperative evaluation of extent of aganglionosis by a rapid acetylcholinesterase histochemical technique. J Pediatr Surg 30(2):248–252PubMed

Kusafuka T, Puri P (1997) Altered mRNA expression of the neuronal nitric oxide synthase gene in Hirschsprung’s disease. J Pediatr Surg 32(7):1054–1058PubMed

Kusafuka T, Puri P (1997) Altered RET gene mRNA expression in Hirschsprung’s disease. J Pediatr Surg 32(4):600–604PubMed

Kusafuka T, Puri P (1997) Mutations of the endothelin-B receptor and endothelin-3 genes in Hirschsprung’s disease. Pediatr Surg Int 12(1):19–23PubMed

10.

Wester T, O’Briain DS, Puri P (1999) Notable postnatal alterations in the myenteric plexus of normal human bowel. Gut 44(5):666–674PubMedPubMedCentral

11.

Wester T, O’Briain S, Puri P (1998) Morphometric aspects of the submucous plexus in whole-mount preparations of normal human distal colon. J Pediatr Surg 33(4):619–622PubMed

12.

Wester T, O’Briain S, Puri P (1998) NADPH diaphorase-containing nerve fibers and neurons in the myenteric plexus are resistant to postmortem changes: studies in Hirschsprung’s disease and normal autopsy material. Arch Pathol Lab Med 122(5):461–466PubMed

13.

Cserni T, Paran S, Puri P (2007) The effect of age on colocalization of acetylcholinesterase and nicotinamide adenine dinucleotide phosphate diaphorase staining in enteric neurons in an experimental model. J Pediatr Surg 42(2):300–304PubMed

14.

Cserni T et al (2009) Correlation of enteric NADPH-d positive cell counts with the duration of incubation period in NADPH-d histochemistry. Pathol Oncol Res 15(1):103–107PubMed

15.

Nemeth L, Maddur S, Puri P (2000) Immunolocalization of the gap junction protein Connexin43 in the interstitial cells of Cajal in the normal and Hirschsprung’s disease bowel. J Pediatr Surg 35(6):823–828PubMed

16.

Oue T et al (2000) Muscarinic acetylcholine receptor expression in aganglionic bowel. Pediatr Surg Int 16(4):267–271PubMed

17.

Yoneda A et al (2001) Cell-adhesion molecules and fibroblast growth factor signalling in Hirschsprung’s disease. Pediatr Surg Int 17(4):299–303PubMed

18.

Rolle U et al (2002) Altered distribution of interstitial cells of Cajal in Hirschsprung disease. Arch Pathol Lab Med 126(8):928–933PubMed

19.

Menezes M, Puri P (2005) Long-term clinical outcome in patients with Hirschsprung’s disease and associated Down’s syndrome. J Pediatr Surg 40(5):810–812PubMed

20.

Menezes M, Corbally M, Puri P (2006) Long-term results of bowel function after treatment for Hirschsprung’s disease: a 29-year review. Pediatr Surg Int 22(12):987–990PubMed

21.

Menezes M et al (2008) Long-term clinical outcome in patients with total colonic aganglionosis: a 31-year review. J Pediatr Surg 43(9):1696–1699PubMed

22.

Menezes M, Puri P (2006) Long-term outcome of patients with enterocolitis complicating Hirschsprung’s disease. Pediatr Surg Int 22(4):316–318PubMed

23.

Coyle D et al (2019) The extent of the transition zone in hirschsprung disease. J Pediatr Surg 54(11):2318–2324PubMed

24.

O’Donnell AM, Coyle D, Puri P (2016) Deficiency of platelet-derived growth factor receptor-alpha-positive cells in Hirschsprung’s disease colon. World J Gastroenterol 22(12):3335–3340PubMedPubMedCentral

25.

O’Donnell AM, Nakamura H, Puri P (2020) Tuft cells: a new player in Hirschsprung’s disease. Eur J Pediatr Surg 30(1):59–63PubMed

26.

Nakamura H et al (2018) Altered goblet cell function in Hirschsprung’s disease. Pediatr Surg Int 34(2):121–128PubMed

27.

Coyle D et al (2016) Altered neurotransmitter expression profile in the ganglionic bowel in Hirschsprung’s disease. J Pediatr Surg 51(5):762–769PubMed

28.

Piotrowska AP, Solari V, Puri P (2003) Distribution of Ca2+-activated K channels, SK2 and SK3, in the normal and Hirschsprung’s disease bowel. J Pediatr Surg 38(6):978–983PubMed

29.

O’Donnell AM, Coyle D, Puri P (2015) Decreased expression of hyperpolarisation-activated cyclic nucleotide-gated channel 3 in Hirschsprung’s disease. World J Gastroenterol 21(18):5635–5640PubMedPubMedCentral

30.

O’Donnell AM, Coyle D, Puri P (2016) Decreased Nav1.9 channel expression in Hirschsprung’s disease. J Pediatr Surg 51(9):1458–1461PubMed

31.

O’Donnell AM, Coyle D, Puri P (2017) Decreased expression of Kv7 channels in Hirchsprung’s disease. J Pediatr Surg 52(7):1177–1181PubMed

32.

O’Donnell AM et al (2019) Decreased expression of TRAAK channels in Hirschsprung’s disease: a possible cause of postoperative dysmotility. Pediatr Surg Int 35(12):1431–1435PubMed

33.

Coyle D et al (2016) Use of anoctamin 1 (ANO1) to evaluate interstitial cells of Cajal in Hirschsprung’s disease. Pediatr Surg Int 32(2):125–133PubMed

34.

Coyle D, O’Donnell AM, Puri P (2015) Altered distribution of small-conductance calcium-activated potassium channel SK3 in Hirschsprung’s disease. J Pediatr Surg 50(10):1659–1664PubMed

35.

Coyle D et al (2015) Rho-kinase expression in Hirschsprung’s disease. Pediatr Surg Int 31(11):1077–1085PubMed

36.

Tomuschat C et al (2016) Altered expression of a two-pore domain (K2P) mechano-gated potassium channel TREK-1 in Hirschsprung’s disease. Pediatr Res 80(5):729–733PubMed

37.

Tomuschat C et al (2016) Altered expression of ATP-sensitive K(+) channels in Hirschsprung’s disease. J Pediatr Surg 51(6):948–952PubMed

38.

Puri P, Gosemann JH (2012) Variants of Hirschsprung disease. Semin Pediatr Surg 21(4):310–318PubMed

39.

Friedmacher F, Puri P (2013) Classification and diagnostic criteria of variants of Hirschsprung’s disease. Pediatr Surg Int 29(9):855–872PubMed

40.

Puri P, Rolle U (2004) Variant Hirschsprung’s disease. Semin Pediatr Surg 13(4):293–299PubMed

41.

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42.

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Title: Translational research in Hirschprung’s disease at the National Children’s Research Centre in Dublin
Author: Anne Marie O’Donnell
Publication date: 01-12-2023
Publisher: Springer Berlin Heidelberg
Published in: Pediatric Surgery International / Issue 1/2023
Print ISSN: 0179-0358
Electronic ISSN: 1437-9813
DOI: https://doi.org/10.1007/s00383-022-05323-8

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Translational research in Hirschprung’s disease at the National Children’s Research Centre in Dublin

Abstract

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