Total colonic aganglionosis associated with interstitial deletion of the long arm of chromosome 10

@article{Martucciello2004TotalCA,
  title={Total colonic aganglionosis associated with interstitial deletion of the long arm of chromosome 10},
  author={Giuseppe Martucciello and Maria Patrizia Bicocchi and P. Dodero and Margherita Lerone and M. Silengo Cirillo and Aldamaria Puliti and Giorgio Gimelli and Giovanni Romeo and Vincenzo Jasonni},
  journal={Pediatric Surgery International},
  year={2004},
  volume={7},
  pages={308-310}
}
We present the case of a patient with total colonic aganglionosis and small-bowel involvement (TCSA) associated with a 46, XX, del 10 (q11.21 q21.2) karyotype. Seromuscular biopsies were taken from the rectum, colon, cecum, and terminal ileum. The alpha-naphthylesterase technique was applied to demonstrate intestinal ganglia of the myenteric plexus. The patient did not have associated anomalies. The association of TCSA with 10 long-arm interstitial deletion has not been reported in the… 
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Development of more sophisticated diagnostic tools – barium enema, anorectal manometry, and acetylcholinesterase staining of mucosal biopsies – allowed earlier diagnosis of children with Hirschsprung’s disease.
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A critical review of the results of molecular-genetic studies of intestinal aganglionosis carried out from 1992 to date focuses on the possible clinical impact of the identification ofRET as a causative gene for HD.
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It is recommended that patients, including newborns, with HSCR undergo a careful assessment by a clinician trained in dysmorphology, as the recurrence risk varies from 4 % to up to 50 % depending on whether it is non-syndromic or part of a specific syndrome.
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  • S. Moore
  • Medicine
    Pediatric Surgery International
  • 2014
TLDR
This study reviews what isknown about the clinical, radiological and histopathologic differences between TCA and the more frequently encountered recto-sigmoid and correlates them with what is currently known about the genetic and molecular biologic background to find possible pathogenetic mechanisms.
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  • S. Moore
  • Medicine
    Seminars in pediatric surgery
  • 2012
TLDR
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TLDR
This review will focus on the genes known to be involved in HSCR pathology, how they interact, and on how technology advances are being employed to uncover the pathological processes underlying this disease.
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TLDR
It is demonstrated that all the potential disease-related mutations identified in South African patients with sporadic HSCR occur in the RET gene.
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