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1.
Heliyon ; 10(17): e36550, 2024 Sep 15.
Artículo en Inglés | MEDLINE | ID: mdl-39263143

RESUMEN

Background: Colorectal cancer (CRC) is a prevalent malignancy and a leading cause of cancer-related mortality. Extensive research into the aetiology of CRC has revealed that somatic mutations in certain genes play a crucial role in CRC development.AIM: In this study, we utilized data from public databases to investigate prevalent mutation patterns in CRC and developed a prognostic predictive model for CRC patients based on mutant genetic characteristics and other relevant clinical features. Methods: We initially gathered mutation information from CRC patients by analysing data from 15 datasets to identify genes with a mutation frequency of ≥10 %. Next, log-rank analyses were used to determine the relationship between prognosis and the mutational status of the most commonly mutated genes; the SIGnaling database was utilized to generate a protein‒protein interaction network. We consolidated and classified the gene mutation patterns of CRC patients in the database based on frequently mutated genes related to prognosis. A predictive nomogram was constructed, including age, sex, TNM stage, and mutation partner, based on available clinical, mutational, and prognostic information for CRC patients at our institution. Finally, the reliability of the model was verified using time-dependent ROC curve analysis. Results: The top 7 genes somatically mutated ≥10 % in 4477 samples from 4255 patients were TP53 (67 %), APC (66 %), KRAS (43 %), PIK3CA (18 %), FBXW7 (14 %), SMAD4 (14 %), and BRAF (10 %). Log-rank analysis demonstrated that the mutation status of 5 genes, namely, TP53, APC, PIK3CA, SMAD4, and BRAF, correlated significantly with prognosis. Protein‒protein interaction analysis confirmed functional interactions between these 5 genes, implicating them in tumorigenesis. We exhaustively enumerated the mutation patterns involving these five genes in 4255 patients, resulting in identification of 32 mutational patterns. After consolidation and classification, these patterns were divided into 3 grades based on patient prognosis. Next, a predictive nomogram based on the clinical, mutational, and prognostic information of 107 CRC patients treated at University Medical Center Rostock was constructed. The area under the curve (AUC) values for the model for predicting 1-, 3-, and 5-year overall survival were 0.779, 0.721, and 0.815, respectively. Conclusion: Common mutational patterns based on frequently mutated genes are associated with prognosis in CRC patients. Our study provides a valuable and concise prognostic predictor for determining outcomes in patients with CRC.

2.
Case Rep Obstet Gynecol ; 2019: 1093626, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-31815026

RESUMEN

Adnexal torsion is a cause of severe pelvic pain in reproductive aged women and during pregnancy. Adnexal torsion occurs when there is a complete turn of the ovary, tube, or both resulting in impaired blood flow to the ovary. The diagnosis of adnexal torsion is sometimes challenging due to the enlarged effect of the uterus, the displacement of abdominal and pelvic structures and the nonspecific symptoms in pregnancy. Therefore, prompt diagnosis is essential for better maternal and neonatal outcomes. The gold standard for confirmation and treatment of ovarian torsion is surgery. Laparoscopy and Laparotomy are surgical options with defined risks and benefits. Therefore, choosing the best surgical technique and surgical procedure are of utmost importance to decrease the chances of adverse events intra and postoperatively. Little literature exists regarding the laparoscopic approach of an ovarian torsion during the second trimester. Our case is a 20-week pregnant patient who had a 1080 degree rotation of the left adnexa. She required laparoscopy for adnexal detorsion and had good intraoperative, postoperative, maternal, and neonatal outcomes following management.

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