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Clinical application of whole-genome sequencing of solid tumors for precision oncology
Kim Ryul,Kim Seokhwi,Oh Brian Baek-Lok,Yu Woo Sik,Kim Chang Woo,Hur Hoon,Son Sang-Yong,Yang Min Jae,Cho Dae Sung,Ha Taeyang,Heo Subin,Jang Jeon Yeob,Yun Jae Sung,Kwack Kyu-Sung,Kim Jai Keun,Huh Jimi,L 생화학분자생물학회 2024 Experimental and molecular medicine Vol.56 No.-
Genomic alterations in tumors play a pivotal role in determining their clinical trajectory and responsiveness to treatment. Targeted panel sequencing (TPS) has served as a key clinical tool over the past decade, but advancements in sequencing costs and bioinformatics have now made whole-genome sequencing (WGS) a feasible single-assay approach for almost all cancer genomes in clinical settings. This paper reports on the findings of a prospective, single-center study exploring the real-world clinical utility of WGS (tumor and matched normal tissues) and has two primary objectives: (1) assessing actionability for therapeutic options and (2) providing clarity for clinical questions. Of the 120 patients with various solid cancers who were enrolled, 95 (79%) successfully received genomic reports within a median of 11 working days from sampling to reporting. Analysis of these 95 WGS reports revealed that 72% (68/95) yielded clinically relevant insights, with 69% (55/79) pertaining to therapeutic actionability and 81% (13/16) pertaining to clinical clarity. These benefits include the selection of informed therapeutics and/or active clinical trials based on the identification of driver mutations, tumor mutational burden (TMB) and mutational signatures, pathogenic germline variants that warrant genetic counseling, and information helpful for inferring cancer origin. Our findings highlight the potential of WGS as a comprehensive tool in precision oncology and suggests that it should be integrated into routine clinical practice to provide a complete image of the genomic landscape to enable tailored cancer management.
Seokhwi Kim,장기택,배현식,최미순,김빛나리,허진석,김호성,최승희 대한병리학회 2016 Journal of Pathology and Translational Medicine Vol.50 No.4
IgG4-related disease (IgG4-RD) may involve multiple organs. Although it usually presents as diffuse organ involvement, localized mass-forming lesions have been occasionally encountered in pancreas. However, the same pattern has been seldom reported in biliary tract. A 61-year-old male showed a hilar bile duct mass with multiple enlarged lymph nodes in imaging studies and he underwent trisectionectomy under impression of cholangiocarcinoma. Gross examination revealed a mass-like lesion around hilar bile duct. Histopathologically, dense lymphoplasmacytic infiltration and storiform fibrosis were identified without evidence of malignancy. Immunohistochemical stain demonstrated rich IgG4-positive plasma cell infiltration. Follow-up imaging studies disclosed multiple enlarged lymph nodes with involvement of pancreas and perisplenic soft tissue. The lesions have been significantly reduced after steroid treatment, which suggests multi-organ involvement of systemic IgG4-RD. Here, we report an unusual localized mass-forming IgG4-related cholangitis as an initial presentation of IgG4-RD, which was biliary manifestation of systemic IgG4-related autoimmune disease.
열중량분석기를 이용한 방치패각 내 유·무기 이물질 함량 정량화
김석휘 ( Seokhwi Kim ),이상은 ( Sangeun Lee ),문현성 ( Hyunsung Moon ),정윤웅 ( Yunwoong Jeong ) 한국폐기물자원순환학회 2024 한국폐기물자원순환학회지 Vol.41 No.4
In accordance with the enactment of the Fishery By-products Recycling Promotion Act in July 2022, legal standards were established for the resource conversion of shell wastes containing less than 3 wt% impurities. Oyster shells, primarily composed of calcium carbonate (CaCO<sub>3</sub>), naturally include impurities from the shucking process. Therefore, an effective analytical method for identifying these impurities is necessary to ensure compliance with the Act. This study aimed to systematize the analytical methods and procedures for quantifying both organic and inorganic impurities in shell wastes using thermogravimetric analysis (TGA). We determined the appropriate analytical conditions for quantifying various impurities based on differential changes in weight loss (Δweight/Δtemperature) resulting from the combustion of organic matter and the decarbonization of CaCO<sub>3</sub>. The results confirmed that changes in unit weight loss from TGA effectively distinguish the organic fraction in the shell. Additionally, oyster shells undergo a phase transition from CaCO<sub>3</sub> to CaO at approximately 580℃. The organic-inorganic impurity-free CaCO<sub>3</sub> content, estimated from TGA results, was around 95.5%, with a reliability of ±2.2% when compared to X-ray fluorescence (XRF) analysis. The findings of this study are expected to provide a reliable method for estimating impurity content, thereby facilitating the re-utilization of abandoned shells as a fishery by-product in the future.
소성패각 기반 액상소석회 제조를 위한 석회석과의 혼합특성
김석휘(Seokhwi Kim),이상은(Sang-Eun Lee),홍범의(Bumui Hong),김강주(Kangjoo Kim) 한국에너지기후변화학회 2024 에너지기후변화학회지 Vol.19 No.2
Oyster shells offer a potential alternative to limestone for producing hydrated lime. However, the hydration reaction of calcined oyster shell is less efficient than that of limestone-derived quicklime (CaO). This study investigates the optimal mixing ratio of calcined oyster shell to enhance its use in hydrated lime production. We evaluated the reactivity of lime produced from different ratios of calcined oyster shell by testing the heat of hydration, dispersivity, and ion removal efficiency in acidic wastewater. When the shell ratio exceeded 10 wt%, dispersion volume decreased significantly, failing to meet commercial hydrated lime standards. However, the neutralization and ion removal properties of the shell-based lime were comparable to limestone-based hydrated lime, regardless of the mixing ratio. The Ca/F molar ratio needed for effective wastewater treatment was found to be over 1.8. Under these conditions, fluoride (F-), phosphate (PO₄<sup>3-</sup>), and sulfate (SO₄<sup>2-</sup>) were removed by more than 90%, while chloride (Cl<sup>-</sup>) and nitrate (NO₃<sup>-</sup>) removal remained low at 20-30%. Despite calcined oyster shells containing more than 10 times the chloride concentration of raw shells, treated water samples did not show an increase in chloride, likely due to the high initial chloride levels in the wastewater, which reduced the effectiveness of the shell-based hydrated lime. These findings suggest that oyster shell can be a viable, sustainable raw material for hydrated lime, offering a solution for shell waste recycling.
ChatGPT 시대, 의료 인공지능이 의사를 대신할 수 있을까?
김석휘 ( Seokhwi Kim ) 대한내과학회 2023 대한내과학회지 Vol.98 No.3
Whether artificial intelligence (AI) can replace the role of doctors has seriously been discussed since the appearance of Chat Generative Pretrained Transformer (ChatGPT). Unlike past expectations that limit the role of AI in the medical field, doctors seem to both admire and be threatened by recent advances in AI models. Because previously developed and approved AI models have been managed and reviewed by medical experts during the preparation, refining, annotation, and verification of data, those systems can be considered to be based on evidence-based medicine. However, the current version of the ChatGPT model derives the most meaningful results from unverified open data. This approach enhances the accessibility to new information but is significantly different from the methodology of evidence-based medicine. Like all AI models developed to date, ChatGPT needs a system that can be rigorously verified and regulated by doctors to facilitate its use in the medical field. (Korean J Med 2023;98:99-101)