Publications by authors named "A M Gerdes"
Aim/background: Patient-reported outcome measurement instruments are important tools in understanding a breast reconstruction's impact on the patients' quality of life. A psychometric validation is essential before applying a patient-reported outcome measurement instrument in clinical practice and research. The BREAST-Q is a specific, validated questionnaire for breast surgery outcomes that has been translated from English to Danish.
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- Reconstructing ancient hydrological conditions, like those in the Eocene period, helps compare real data with modern climate models.
- Using fresh water dynamics from marginal seas, researchers analyze barium and strontium levels in river waters to track historical changes in river runoff.
- The study reveals that barium to calcium and strontium isotopes in fossil bivalve shells can effectively indicate riverine input variations, showing steady fresh water influx in western Europe during the Eocene with significant regional differences.
Background: The occurrence of colorectal cancer (CRC) is increasing among young adults, but the etiology is still largely unknown. In addition to germline monogenetic variants also polygenic risk scores (PRS) have been proven to correctly estimate the risk of CRC.
Case Description: We present a 24-year-old male with disseminated colon cancer who carried a germline duplication on chromosome 1 spanning 200 kb and covering and parts of and .
Background: Pathogenic variants in the mismatch repair genes are associated with an elevated lifetime risk of colorectal cancer (CRC). We previously identified two variants of uncertain significance (VUS) in the MLH1 gene, c.696_698del, p.
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- - Genetic analysis of 88 uveal melanoma patients found that 6 carried germline BAP1 variants, but no significant difference in oncogenic mutations was observed between those carriers and sporadic cases.
- - Patients with somatic BAP1 mutations (24 individuals) had a notably poorer prognosis compared to those without mutations, while germline carriers showed no significant difference in overall survival.
- - Notably, all stage III patients with somatic BAP1 mutations (7 patients) experienced metastasis, whereas some early-stage tumors (4 of 28) with somatic mutations remained metastasis-free for over five years.