1.Targeted Cascade Genetic Testing in Korean Prostate Cancer Probands: High Detection Rate of Heritable Germline Variants in First-Degree Relatives From a Retrospective Cohort
Sang Hun SONG ; Jungwon PARK ; Younsoo CHUNG ; Hakmin LEE ; Jong-Jin OH ; Hyunji KIM ; Seok-Soo BYUN
Journal of Urologic Oncology 2025;23(3):227-235
Purpose:
This study aimed to assess the rate of germline variant detection following targeted cascade genetic testing among family members of prostate cancer (PCa) probands.
Materials and Methods:
Records of PCa patients with confirmed germline mutations and their family members recommended for cascade testing were retrospectively reviewed. Cascade testing for germline mutations identified in PCa probands was conducted among first-degree relatives (FDRs) and second-degree relatives. The rate of counseled family members who proceeded to actual testing, the proportion of mutation carriers detected, and the reasons for test refusal were analyzed. Clinical variables, including family history of malignancy and variant type, were also collected.
Results:
A total of 15 PCa patients and 44 eligible relatives were included in the final analysis. Eleven probands (73.3%) had a positive family history of cancer across 22 family members (18 FDRs). Among FDRs, breast/ovarian cancer (27.8%) and gastric cancer (22.2%) were the most common, followed by lymphoma, prostate, esophageal, and lung cancer (each 11.1%). Among probands, BRCA2 variants were predominant (80%, 12 of 15), followed by BRCA1 (n=2) and MLH1 (n=1) mutations. Of 41 eligible FDRs, 21 (51.2%) underwent genetic testing, and 61.9% (13 of 21) were found to carry identical germline mutations. Approximately half of the counseled family members declined testing due to concerns regarding privacy and disclosure, travel distance to the clinic, or loss to follow-up.
Conclusion
Over half of the FDRs who underwent cascade testing were confirmed to carry pathogenic germline variants. As the first study to evaluate cascade testing in family members of PCa probands in Korea, these findings underscore the strong heritable component of PCa and highlight the need to enhance participation in familial genetic screening.
2.Comparative analysis of Access PCT and Elecsys BRAHMS PCT assays for procalcitonin measurements
Hyunji CHOI ; Sang-Shin LEE ; Hyunyong HWANG
Kosin Medical Journal 2024;39(4):272-280
Background:
Procalcitonin (PCT) is a crucial biomarker for diagnosing sepsis and managing antibiotic therapy. This study evaluated the analytical performance and comparability of the Access PCT and Elecsys BRAHMS PCT assays.
Methods:
The precision, detection capability, linearity, and reference range of both assays were assessed. A comparative analysis included 182 patient samples categorized into four risk groups to compare the results between Access PCT and Elecsys BRAHMS PCT assays.
Results:
The Access PCT assay demonstrated precision within the manufacturer’s threshold, and its detection capabilities were verified. This assay exhibited excellent linearity and appropriate reference intervals. Comparative analysis indicated that the Access PCT assay reported higher overall PCT levels than the Elecsys BRAHMS assay, with high agreement between the assays (κ=0.941). However, the biases varied across different PCT concentration intervals.
Conclusions
Both the Access PCT and Elecsys BRAHMS PCT assays performed robustly with notable concordance but varying biases at different concentration intervals. The observed biases require careful consideration in clinical decision-making, especially when adopting novel assay systems. Standardizing the calibration across different platforms is recommended to improve assay comparability.
3.Utilization of Smart Healthcare for Gestational Diabetes Mellitus Management
Hyeri LEE ; Hyunji SANG ; Dong Keon YON ; Sang Youl RHEE
Journal of Korean Diabetes 2024;25(3):135-144
Gestational diabetes mellitus (GDM) poses significant health risks to both mothers and newborns, requiring rigorous self-management and frequent medical consultations. Advances in information and communications technology (ICT) have shown promising results in reducing the number of in-person visits for GDM management. ICT enhances patient self-care engagement, with some studies reporting reductions in average blood glucose and HbA1c levels. ICT for GDM management has demonstrated benefits such as fewer in-person visits, improved adherence to self-monitoring of blood glucose, increased global user satisfaction, and maintenance of blood glucose control and perinatal outcomes. Common barriers to ICT for GDM include technological literacy, inadequate education, limited technical support, the additional burden of non-customized applications, and restricted interoperability. Further research is needed on the impact of technology on GDM management to optimize digital health solutions.
4.Comparative analysis of Access PCT and Elecsys BRAHMS PCT assays for procalcitonin measurements
Hyunji CHOI ; Sang-Shin LEE ; Hyunyong HWANG
Kosin Medical Journal 2024;39(4):272-280
Background:
Procalcitonin (PCT) is a crucial biomarker for diagnosing sepsis and managing antibiotic therapy. This study evaluated the analytical performance and comparability of the Access PCT and Elecsys BRAHMS PCT assays.
Methods:
The precision, detection capability, linearity, and reference range of both assays were assessed. A comparative analysis included 182 patient samples categorized into four risk groups to compare the results between Access PCT and Elecsys BRAHMS PCT assays.
Results:
The Access PCT assay demonstrated precision within the manufacturer’s threshold, and its detection capabilities were verified. This assay exhibited excellent linearity and appropriate reference intervals. Comparative analysis indicated that the Access PCT assay reported higher overall PCT levels than the Elecsys BRAHMS assay, with high agreement between the assays (κ=0.941). However, the biases varied across different PCT concentration intervals.
Conclusions
Both the Access PCT and Elecsys BRAHMS PCT assays performed robustly with notable concordance but varying biases at different concentration intervals. The observed biases require careful consideration in clinical decision-making, especially when adopting novel assay systems. Standardizing the calibration across different platforms is recommended to improve assay comparability.
5.Weight Management Health Note, a Mobile Health Platform for Obesity Management Developed by the Korean Society for the Study of Obesity
Yujung LEE ; Hyunji SANG ; Sunyoung KIM ; Doo Ah CHOI ; Sang Youl RHEE ;
Journal of Obesity & Metabolic Syndrome 2024;33(1):1-10
The Weight Management Health Note application, developed by the Korean Society for the Study of Obesity (KSSO), was designed to assist individuals in weight management and enhance overall well-being. The Committee of IT-Convergence Treatment of Metabolic Syndrome of the KSSO designed this application. Committee members reviewed and supervised the application’s underlying driving algorithms and scientific rationale. A healthcare-specific application developer subsequently finalized the application. This application encompasses a myriad of features, including a comprehensive food diary, an exercise tracker, and tailor-made lifestyle recommendations aligned with individual needs and aspirations. Moreover, it facilitates connections within a community of like-minded individuals endeavoring to manage their weight, fostering mutual support and motivation. Importantly, the application is rich in evidence-based health content curated by the KSSO, ensuring users access accurate information for effective obesity management. Looking ahead, the KSSO is committed to orchestrating diverse academic research endeavors linked to this application and refining its functionalities through continuous feedback from users. The KSSO aspires for this application to serve as a valuable resource for individuals striving to manage their health and enhance their quality of life.
6.Utilization of Smart Healthcare for Gestational Diabetes Mellitus Management
Hyeri LEE ; Hyunji SANG ; Dong Keon YON ; Sang Youl RHEE
Journal of Korean Diabetes 2024;25(3):135-144
Gestational diabetes mellitus (GDM) poses significant health risks to both mothers and newborns, requiring rigorous self-management and frequent medical consultations. Advances in information and communications technology (ICT) have shown promising results in reducing the number of in-person visits for GDM management. ICT enhances patient self-care engagement, with some studies reporting reductions in average blood glucose and HbA1c levels. ICT for GDM management has demonstrated benefits such as fewer in-person visits, improved adherence to self-monitoring of blood glucose, increased global user satisfaction, and maintenance of blood glucose control and perinatal outcomes. Common barriers to ICT for GDM include technological literacy, inadequate education, limited technical support, the additional burden of non-customized applications, and restricted interoperability. Further research is needed on the impact of technology on GDM management to optimize digital health solutions.
7.Comparative analysis of Access PCT and Elecsys BRAHMS PCT assays for procalcitonin measurements
Hyunji CHOI ; Sang-Shin LEE ; Hyunyong HWANG
Kosin Medical Journal 2024;39(4):272-280
Background:
Procalcitonin (PCT) is a crucial biomarker for diagnosing sepsis and managing antibiotic therapy. This study evaluated the analytical performance and comparability of the Access PCT and Elecsys BRAHMS PCT assays.
Methods:
The precision, detection capability, linearity, and reference range of both assays were assessed. A comparative analysis included 182 patient samples categorized into four risk groups to compare the results between Access PCT and Elecsys BRAHMS PCT assays.
Results:
The Access PCT assay demonstrated precision within the manufacturer’s threshold, and its detection capabilities were verified. This assay exhibited excellent linearity and appropriate reference intervals. Comparative analysis indicated that the Access PCT assay reported higher overall PCT levels than the Elecsys BRAHMS assay, with high agreement between the assays (κ=0.941). However, the biases varied across different PCT concentration intervals.
Conclusions
Both the Access PCT and Elecsys BRAHMS PCT assays performed robustly with notable concordance but varying biases at different concentration intervals. The observed biases require careful consideration in clinical decision-making, especially when adopting novel assay systems. Standardizing the calibration across different platforms is recommended to improve assay comparability.
8.Utilization of Smart Healthcare for Gestational Diabetes Mellitus Management
Hyeri LEE ; Hyunji SANG ; Dong Keon YON ; Sang Youl RHEE
Journal of Korean Diabetes 2024;25(3):135-144
Gestational diabetes mellitus (GDM) poses significant health risks to both mothers and newborns, requiring rigorous self-management and frequent medical consultations. Advances in information and communications technology (ICT) have shown promising results in reducing the number of in-person visits for GDM management. ICT enhances patient self-care engagement, with some studies reporting reductions in average blood glucose and HbA1c levels. ICT for GDM management has demonstrated benefits such as fewer in-person visits, improved adherence to self-monitoring of blood glucose, increased global user satisfaction, and maintenance of blood glucose control and perinatal outcomes. Common barriers to ICT for GDM include technological literacy, inadequate education, limited technical support, the additional burden of non-customized applications, and restricted interoperability. Further research is needed on the impact of technology on GDM management to optimize digital health solutions.
9.Weight Management Health Note, a Mobile Health Platform for Obesity Management Developed by the Korean Society for the Study of Obesity
Yujung LEE ; Hyunji SANG ; Sunyoung KIM ; Doo Ah CHOI ; Sang Youl RHEE ;
Journal of Obesity & Metabolic Syndrome 2024;33(1):1-10
The Weight Management Health Note application, developed by the Korean Society for the Study of Obesity (KSSO), was designed to assist individuals in weight management and enhance overall well-being. The Committee of IT-Convergence Treatment of Metabolic Syndrome of the KSSO designed this application. Committee members reviewed and supervised the application’s underlying driving algorithms and scientific rationale. A healthcare-specific application developer subsequently finalized the application. This application encompasses a myriad of features, including a comprehensive food diary, an exercise tracker, and tailor-made lifestyle recommendations aligned with individual needs and aspirations. Moreover, it facilitates connections within a community of like-minded individuals endeavoring to manage their weight, fostering mutual support and motivation. Importantly, the application is rich in evidence-based health content curated by the KSSO, ensuring users access accurate information for effective obesity management. Looking ahead, the KSSO is committed to orchestrating diverse academic research endeavors linked to this application and refining its functionalities through continuous feedback from users. The KSSO aspires for this application to serve as a valuable resource for individuals striving to manage their health and enhance their quality of life.
10.Comparative analysis of Access PCT and Elecsys BRAHMS PCT assays for procalcitonin measurements
Hyunji CHOI ; Sang-Shin LEE ; Hyunyong HWANG
Kosin Medical Journal 2024;39(4):272-280
Background:
Procalcitonin (PCT) is a crucial biomarker for diagnosing sepsis and managing antibiotic therapy. This study evaluated the analytical performance and comparability of the Access PCT and Elecsys BRAHMS PCT assays.
Methods:
The precision, detection capability, linearity, and reference range of both assays were assessed. A comparative analysis included 182 patient samples categorized into four risk groups to compare the results between Access PCT and Elecsys BRAHMS PCT assays.
Results:
The Access PCT assay demonstrated precision within the manufacturer’s threshold, and its detection capabilities were verified. This assay exhibited excellent linearity and appropriate reference intervals. Comparative analysis indicated that the Access PCT assay reported higher overall PCT levels than the Elecsys BRAHMS assay, with high agreement between the assays (κ=0.941). However, the biases varied across different PCT concentration intervals.
Conclusions
Both the Access PCT and Elecsys BRAHMS PCT assays performed robustly with notable concordance but varying biases at different concentration intervals. The observed biases require careful consideration in clinical decision-making, especially when adopting novel assay systems. Standardizing the calibration across different platforms is recommended to improve assay comparability.

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