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Distribution of ganglion cells in rectal mucosal and submucosal fragments for the diagnosis of hirschsprung disease

Grant number: 19/10339-1
Support type:Regular Research Grants
Duration: November 01, 2019 - October 31, 2021
Field of knowledge:Health Sciences - Medicine
Principal Investigator:Uenis Tannuri
Grantee:Uenis Tannuri
Home Institution: Faculdade de Medicina (FM). Universidade de São Paulo (USP). São Paulo , SP, Brazil
Assoc. researchers:Ana Cristina Aoun Tannuri ; Josiane de Oliveira Gonçalves ; Maria Mercês Santos ; Rafael Rodrigues Torres ; Suellen Serafini


Hirschsprung's disease (HD) is characterized by the absence of ganglion cells in the enteric plexus, which results in intestinal dismobility in children. The fragment analysis obtained by rectal biopsy confirms the diagnosis. Histopathological methods such as acetylcholinesterase activity (ACHE) and calretinin activity (CALRET) have good accuracy and can be performed in fragments containing only mucosa and submucosa, allowing for a less invasive biopsy. In a recent study, we demonstrated that it is also possible to perform the examination in smaller fragments using HE, a simpler staining technique than the specific methods of ACHE and CALRET. In this study, 60 slices of each biopsy fragment were obtained; in 54% of the unaffected patients, ganglion cells were in the deepest slices (50-60). This finding motivated us to study the distribution of these cells in the rectal submucosa, to facilitate the process of analysis of the slides. Objectives: 1) To study the distribution of ganglion cells in the rectal submucosal plexus; 2) To create a method to facilitate the diagnosis and apply it to biopsy fragments of patients with suspected HD. Methods: Analyze the distribution of ganglion cells in 60 fragments of rectal submucosa obtained from cadavers referred to our service morgue (SVOC). Subsequently, the new diagnostic technique will be applied in 80 cases of suspected HD. (AU)