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Studies of RET gene expression and acetylcholinesterase activity in a series of sporadic Hirschsprung’s disease

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Abstract

The purpose is to present the studies of RET gene expression and acetylcholinesterase activity in 23 patients operated for Hirschsprung’s disease (HD). The patients underwent either transanal endorectal pull-through or Duhamell’s procedure. Full-thickness intestinal samples from the three different segments (ganglionic, intermediate and aganglionic) were collected. Each tissue sample was divided in two portions, one for AChE histochemical staining and the other for examination of RET mRNA expression level. All patients had an uneventful postoperative recovery. In all patients, the AChE stainings demonstrated the absence of activity in the ganglionic area, the marked increase of positive fibers in the aganglionic area, and little increase of positive fibers in the intermediate area. In the ganglionic and intermediate areas, all patients (100%) showed significant RET gene expression. In the aganglionic area, 18 patients (78.3%) did not present gene expression and the other five patients (21.7%) presented gene expression that was similar to the ganglionic and intermediate areas. The results reinforce the conclusion that the method of AChE staining is effective for the diagnosis of intestinal aganglionosis and confirm the knowledge that genes beyond RET may be implicated in the genesis of sporadic cases of HD.

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Acknowledgments

Supported by grants from Fundação de Amparo a Pesquisa do Estado de São Paulo (FAPESP)-07/01333-2-São Paulo, Brazil.

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Authors and Affiliations

  1. Pediatric Surgery Division, Pediatric Surgery Laboratory (LIM 30), University of São Paulo Medical School, São Paulo, Brazil

    Maria Cecília M. Coelho, Uenis Tannuri, Israel Benditt & Maria Merces Santos

  2. Faculdade de Medicina da Universidade de São Paulo, Avenida Dr. Arnaldo 455, 4° andar sala 4106, São Paulo, SP, 01246-903, Brazil

    Uenis Tannuri

Authors
  1. Maria Cecília M. Coelho
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  2. Uenis Tannuri
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  3. Israel Benditt
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  4. Maria Merces Santos
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Correspondence to Uenis Tannuri.

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Coelho, M.C.M., Tannuri, U., Benditt, I. et al. Studies of RET gene expression and acetylcholinesterase activity in a series of sporadic Hirschsprung’s disease. Pediatr Surg Int 24, 1017–1021 (2008). https://doi.org/10.1007/s00383-008-2207-8

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