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Distribution of RET proto-oncogene variants in children with appendicitisSchultz, Jerek, Freibothe, Ines, Haase, Michael, Glatte, Patrick, Barreton, Gustavo, Ziegler, Andreas, Görgens, Heike, Fitze, Guido 06 June 2024 (has links)
Background:
In addition to patient-related systemic factors directing the immune response, the pathomechanisms of appendicitis (AP) might also include insufficient drainage leading to inflammation caused by decreased peristalsis. Genetic predisposition accounts for 30%–50% of AP. M. Hirschsprung (HSCR), also characterized by disturbed peristalsis, is associated with variants in the RET proto-oncogene. We thus hypothesized that RET variants contribute to the etiology of AP.
Methods:
DNA from paraffin-embedded appendices and clinical data of 264 children were analyzed for the RET c.135A>G variant (rs1800858, NC_000010.11:g.43100520A>G). In 46 patients with gangrenous or perforated AP (GAP), peripheral blood DNA was used for RET sequencing.
Results:
Germline mutations were found in 13% of GAP, whereas no RET mutations were found in controls besides the benign variant p.Tyr791Phe (NC_000010.11:g.43118460A>T). In GAP, the polymorphic G-allele in rs2435352 (NC_000010.11:g.43105241A>G) in intron 4 was underrepresented (p = 0.0317).
Conclusion:
Our results suggest an impact of the RET proto-oncogene in the etiology of AP. Mutations were similar to patients with HSCR but no clinical features of HSCR were observed. The pathological phenotypes in both populations might thus represent a multigenic etiology including RET germline mutations with phenotypic heterogeneity and incomplete penetrance.
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Entwicklung und Evaluation eines interaktiven Lernprogramms für die Vorbereitung auf den chirurgischen Untersuchungskurs / Development and evaluation of an interactive learning program as a means of preparation for the surgical examination coursePhilipp, Wagner 10 December 2003 (has links)
No description available.
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