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Browsing by Subject "gene mutation"
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Item The Impact of Genomic Profiling for Novel Cancer Therapy–Recent Progress in Non-Small Cell Lung Cancer(Elsevier, 2016-01) Xie, Jingwu; Zhang, Xiaoli; Department of Pediatrics, IU School of MedicineThere is high expectation for significant improvements in cancer patient care after completion of the human genome project in 2003. Through pains-taking analyses of genomic profiles in cancer patients, a number of targetable gene alterations have been discovered, with some leading to novel therapies, such as activating mutations of EGFR, BRAF and ALK gene fusions. As a result, clinical management of cancer through targeted therapy has finally become a reality for a subset of cancers, such as lung adenocarcinomas and melanomas. In this review, we summarize how gene mutation discovery leads to new treatment strategies using non-small cell lung cancer (NSCLC) as an example. We also discuss possible future implications of cancer genome analyses.Item Surgical Outcomes in Syndromic Tetralogy of Fallot: A Systematic Review and Evidence Quality Assessment(Springer, 2019-08) Athanasiadis, Dimitrios I.; Mylonas, Konstantinos S.; Kasparian, Karampet; Ziogas, Ioannis A.; Vlachopoulou, Dimitra; Sfyridis, Panagiotis G.; Schizas, Dimitrios; Spartalis, Eleftherios; Nikiteas, Nikolaos; Hemmati, Pouya; Kalangos, Afksendiyos; Avgerinos, Dimitrios V.; Surgery, School of MedicineTetralogy of Fallot (ToF) is one of the most common cyanotic congenital heart defects. We sought to summarize all available data regarding the epidemiology and perioperative outcomes of syndromic ToF patients. A PRISMA-compliant systematic literature review of PubMed and Cochrane Library was performed. Twelve original studies were included. The incidence of syndromic ToF was 15.3% (n = 549/3597). The most prevalent genetic syndromes were 22q11.2 deletion (47.8%; 95% CI 43.4–52.2) and trisomy 21 (41.9%; 95% CI 37.7–46.3). Complete surgical repair was performed in 75.2% of the patients (n = 161/214; 95% CI 69.0–80.1) and staged repair in 24.8% (n = 53/214; 95 CI 19.4–30.9). Relief of RVOT obstruction was performed with transannular patch in 64.7% (n = 79/122; 95% CI 55.9–72.7) of the patients, pulmonary valve-sparing technique in 17.2% (n = 21/122; 95% CI 11.5–24.9), and RV-PA conduit in 18.0% (n = 22/122; 95% CI 12.1–25.9). Pleural effusions were the most common postoperative complications (n = 28/549; 5.1%; 95% CI 3.5–7.3). Reoperations were performed in 4.4% (n = 24/549; 95% CI 2.9–6.4) of the patients. All-cause mortality rate was 9.8% (n = 51/521; 95% CI 7.5–12.7). Genetic syndromes are seen in approximately 15% of ToF patients. Long-term survival exceeds 90%, suggesting that surgical management should be dictated by anatomy regardless of genetics.