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The Global ETD Search service is a free service for researchers
to find electronic theses and dissertations. This service is
provided by the
Networked Digital Library of Theses and Dissertations.
Our metadata is collected from universities around the world. If you manage a university/consortium/country archive and want to be added, details can be found on the NDLTD website.
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Showing 1 to 2 of 2 (0.06 seconds)Spelling suggestions: "subject:"allgemeinchirurgischen"" "subject:"magenchirurgie""
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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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