
Efforts to minimize perioperative blood loss in surgery in order to improve short and long- term outcome should be made, as implications extend considerably beyond the perioperative period. Minimally invasive approaches are associated with less bleeding. [...] READ MORE
Background
Next-generation sequencing (NGS) has changed genetic diagnostics due to its high throughput, speed, and cost-effectiveness. This paper describes the challenges that were faced in detection of the frameshift variant c.1175_1214del in the BRCA1 gene, undetectable by CNV analysis, using Oncomine BRCA Research Assay (OBRA) and Ion Torrent platform. [...] READ MORE
Advancements in immunotherapy, particularly immune checkpoint inhibitors, have revolutionized the treatment of metastatic colorectal cancer (mCRC). However, the efficacy of available immunotherapeutic agents is largely limited to tumors with DNA mismatch repair-deficient (dMMR) and/or those with microsatellite instability-high (MSI-H) mCRC. [...] READ MORE
Ribosomal protein (RP) gene mutations, mostly are associated with inherited or acquired bone marrow failure; it is believed that RP to drive disease by slowing the rate of protein synthesis. Ribosomes, are responsible for protein synthesis; ribosome, consist of a small 40S subunit and a large 60S subunit. [...] READ MORE