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| ID | Type | Description | Link |
|---|---|---|---|
| 35RC15_8926 | Other Identifier | CHU Rennes |
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The purpose of this study is to assess and explain (at least apart) anorectal disorders of patients with Spina Bifida by an automatic neuropathy responsive of enteric nervous system and epithelial barrier dysfunctions. The investigators' aim hypothetics is that autonomic neuropathy of patients with Spina Bifida induce enteric nervous sytem and epithelial barrier dysfunctions which explain anorectal disorders of these patients. Thexpect to show a decreased of 5% of enteric neurons per ganglia.
Spina Bifida is rare disease related to a failure of the closure of neural tube during the embryonic period. This malformation results in a variety of clinical disorders (neurologic, urologic, orthopedic, anorectal), depending on the level of the spinal cord lesion. Anorectal functional disorders remain underestimated and unknown from a pathophysiological point of view with subsequent uncodified therapeutic strategy.
Patients with Spina Bifida always present autonomic neuropathy that contributes partially to the anorectal disorders. These disorders may be related to a closed relationship between autonomic and enteric nervous system. Both nervous systems play a key role in anorectal disorders during others neurological disaeses have a common and simultaneous development from neural crest and induce colonic epithelial changes related to the closed connection between epithelial barrier and enteric nervous system. All of this remains hypothetic because no data regarding the impairment of enteric nervous system and epithelial barrier are available and no study are ongoing on this topic.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Enteric nervous system dysfunction | Other | colonic biopsies and usual care |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Colonic biopsies during endoscopy | Procedure | eligible patients will have physical examination, colonic biopsies during endoscopy and anal manometry with barostat. these investigations are part of the usual healthcare. Colonic biopsies will be used to study intestinal permeability, colonic inflammation and enteric nervous system. |
| Measure | Description | Time Frame |
|---|---|---|
| number of enteric neurons per ganglia | all data will be collected in the Spina Bifida database for further analyses. Colonic biopsies will be used to study intestinal permeability, colonic inflammation and enteric nervous system | data collected at the day of endoscopy |
| Measure | Description | Time Frame |
|---|---|---|
| anorectal symptoms | data collected at the day of endoscopy | |
| Rectal compliance | Rectal compliance is defined by a volume variation during ascending pressure (phasic distension). It will be performed with a bag connected to electronic barostat. |
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Inclusion Criteria:
Exclusion Criteria:
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| Name | Affiliation | Role |
|---|---|---|
| Charlène Brochard, Md | Rennes University Hospital | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Rennes University Hospital | Rennes | France |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 35505001 | Derived | Brochard C, Bouguen G, Olivier R, Durand T, Henno S, Peyronnet B, Pagenault M, Lefevre C, Boudry G, Croyal M, Fautrel A, Esvan M, Ropert A, Dariel A, Siproudhis L, Neunlist M. Altered epithelial barrier functions in the colon of patients with spina bifida. Sci Rep. 2022 May 3;12(1):7196. doi: 10.1038/s41598-022-11289-3. |
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| ID | Term |
|---|---|
| D016135 | Spinal Dysraphism |
| D012002 | Rectal Diseases |
| ID | Term |
|---|---|
| D009436 | Neural Tube Defects |
| D009421 | Nervous System Malformations |
| D009422 | Nervous System Diseases |
| D000013 | Congenital Abnormalities |
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| data collected at the day of endoscopy |
| Likert scale | Sensation intensity will be measured at each pressure step, by using 6-point Likert scale ranging from 0 (no sensation) to 6 (intolerable pain) | data collected at the day of endoscopy |
| macroscopic and microscopic colonic inflammation | data collected at the day of endoscopy |
| intestinal permeability marker | Intestinal permeability will be measured using Ussing chamber. | data collected at the day of endoscopy |
| number of glia cells per ganglia | data collected at the day of endoscopy |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D007410 | Intestinal Diseases |
| D005767 | Gastrointestinal Diseases |
| D004066 | Digestive System Diseases |