1.Germline Mutations Related to Complete Remission After Neoadjuvant Chemotherapy in Patients With Triple-negative Breast Cancer
Jee Hyun AHN ; Ji Soo PARK ; Dongju WON ; Seung-Tae LEE ; Suk Jun LEE ; Seung Hye YANG ; Jee Ye KIM ; Seho PARK ; Seung Il KIM ; Byeong-Woo PARK ; Min Hwan KIM ; Gun Min KIM ; Joohyuk SOHN ; Hyung Seok PARK
Journal of Breast Cancer 2026;29(2):118-127
Purpose:
Triple-negative breast cancer (TNBC) is a frequent phenotype of BRCA-mutanttumors. Tumors with BRCAness may show characteristics of BRCA-mutant tumors and respond to similar treatments. Next-generation sequencing is an efficient and cost-effective method for simultaneously sequencing multiple cancer susceptibility genes, surpassing conventional Sanger testing.
Methods:
A total of 148 women with TNBC were recruited from December 2015 to November 2018, as part of a sub-analysis based on the PEARLY trial data. Of them, 103 patients received neoadjuvant chemotherapy (NCT). The targeted genes related to hereditary cancers were sequenced using the 65-gene germline next-generation sequencing (gNGS) panel pathogenic and likely pathogenic variants (P&LPs) were determined by Sanger sequencing. We examined the occurrence of pathologic complete remission (ypCR) in patients with P&LPs.
Results:
The patients’ median age was 47 years (range, 27–69 years). Twenty (13.7%) of 148 patients had P&LP in six genes, including BARD1 (n = 2), BRCA1 (n = 9), BRCA2 (n = 5), CHEK2 (n = 1), RAD51C (n = 1), and RAD51D (n = 2). Among the 103 patients with NCT, 43 (41.7%) achieved ypCR (P&LPs; 9 individuals vs. non-variants; 34 individuals). Among the 103 patients with NCT, 14 (9.3%) had P&LPs. Nine of 14 patients with P&LPs, including BARD1 (n = 2), BRCA1 (n = 4), BRCA2 (n = 1), RAD51C (n = 1), and RAD51D (n = 1), achieved ypCR, showing a trend toward statistical significance (p = 0.066).
Conclusion
Germline P&LP mutations in TNBC patients can be detected by gNGS. This panel test can identify BRCA and BRCAness mutations that may predict ypCR in TNBC.
2.Sarcopenia is independently associated with mortality and recovery from dialysis in critically ill patients with sepsis-induced acute kidney injury receiving continuous renal replacement therapy
Il Young KIM ; Byung Min YE ; Seo Rin KIM ; Dong Won LEE ; Soo Bong LEE
Kidney Research and Clinical Practice 2025;44(2):324-337
Sarcopenia upon admission to the intensive care unit (ICU) consistently correlates with adverse outcomes, including heightened mortality, in critically ill patients. This study aims to investigate the independent association of sarcopenia with both mortality and recovery from dialysis in critically ill patients with sepsis-induced acute kidney injury (SIAKI) undergoing continuous renal replacement therapy (CRRT). Methods: This retrospective study included 618 patients with SIAKI who underwent CRRT in our ICU. All patients had abdominal computed tomography (CT) scans within 3 days preceding ICU admission. The cross-sectional area of skeletal muscles at the third lumbar vertebra was quantified, and the skeletal muscle index (SMI), a normalized measure of skeletal muscle mass, was computed. Using Korean-specific SMI cutoffs, patients were categorized into sarcopenic and non-sarcopenic groups. Results: Among the 618 patients, 301 expired within 28 days of ICU admission. Multivariable Cox regression analysis revealed that sarcopenia independently predicted 28-day mortality. Among survivors, sarcopenia was independently associated with recovery from dialysis within 28 days after ICU admission. Kaplan-Meier analysis illustrated that sarcopenic patients had a higher mortality rate and a lower rate of recovery from dialysis within 28 days after ICU admission compared to non-sarcopenic patients. Conclusion: This study underscores the independent association of sarcopenia, assessed via CT-derived SMI, with both mortality and recovery from dialysis in critically ill patients with SIAKI undergoing CRRT. The inclusion of sarcopenia assessment could serve as a valuable tool for physicians in effectively stratifying the risk of adverse outcomes in these patients.
3.Obesity exacerbates ischemia-reperfusion injury and senescence in murine kidneys and perirenal adipose tissues
Seo Rin KIM ; Young-Suk KIM ; Je Min HYEON ; Su Ji KIM ; Byung Min YE ; Min Jeong KIM ; Byung Hyun CHOI ; Dongwon YI ; Il Young KIM ; Soo Bong LEE ; Dong Won LEE
Kidney Research and Clinical Practice 2025;44(6):916-927
Background:
Obesity is a major worldwide health problem and can be related to cellular senescence. Along with the rise in obesity, the comorbidity of renal ischemia-reperfusion (IR) injury is increasing. Whether obesity accelerates the severity of IR injury and whether senescence contributes to these conditions remain unclear. We studied the degree of injury and cellular senescence in the IR kidneys and perirenal adipose tissues of high-fat-diet–induced obese mice.
Methods:
C57BL/6 mice fed standard chow or a high-fat diet for 16 weeks were randomized to renal IR or sham group (n = 6–10 each). Renal IR was performed by unilateral clamping of the right renal pedicle for 30 minutes. Six weeks after surgery, renal function, perirenal fat/renal senescence, and histology were evaluated ex vivo.
Results:
Obese mice showed more renal tubular damage and fibrosis in IR injury than control mice, even though the degree of ischemic insult was comparable. Renal expression of senescence and its secretory phenotype was upregulated in either IR injury or with a high-fat diet and was further increased in the IR kidneys of obese mice. Fat senescence and the expression of tumor necrosis factor alpha were also increased, especially in the perirenal depot of the IR kidneys, with a high-fat diet.
Conclusion
A high-fat diet aggravates IR injury in murine kidneys, which is associated, at least in part, with perirenal fat senescence and inflammation. These observations support the exploration of therapeutic targets of the adipo-renal axis in injured obese kidneys.
4.Effects of a Simultaneous Dual-Task Intervention on Cognitive Function in Community-Dwelling Older Adults
Ye-Eun SHIN ; Myeong-Il HAN ; Mal-Rye CHOI ; Kyoung-hwan PARK ; Nam-ju SUNG ; Sol-yi KIM ; Se-yeon KIM ; Tae-woo KANG
Journal of Korean Neuropsychiatric Association 2025;64(4):324-330
Objectives:
Previous studies have shown that combined interventions involving cognitive training and physical activity are effective in enhancing brain function. This study examined the effects of a dual-task intervention—simultaneously combining cognitive and physical tasks—on the cognitive and physical function of community-dwelling older adults aged 65 years and older.
Methods:
From July to December 2023, cognitively normal adults aged 65 years or older were recruited through the Jeollabuk-do Regional Dementia Center. Participants completed an eightsession group-based program (60 minutes per session) that combined cognitive training and physical activity. The cognitive functions were evaluated using a neuropsychological test battery, and the physical functions were assessed using the Short Physical Performance Battery (SPPB), before and after the intervention.
Results:
Of 79 participants, 73 completed the intervention. After the program, significant improvements in orientation, memory, visuoconstruction, naming, total cognitive scores, and performance were observed on the Trail Making Test-Part A and Trail Making Test-Part B (p<0.05 to p<0.001).Physical performance also significantly improved the balance, gait speed, chair-stand ability, and total SPPB scores (p<0.001). Multiple regression analysis showed that lower educational attainment and cohabitation with children were associated with greater cognitive improvements, while antihypertensive medication use was negatively associated, and diabetes medication use was positively associated with cognitive outcomes.
Conclusion
Simultaneous dual-task–based combined intervention may be an effective strategy for enhancing the cognitive and physical functions in cognitively preserved older adults. Nevertheless, further studies will be needed to explore its long-term effects and underlying neurobiological mechanisms.
5.Development and Assessment of a Novel Ulcerative Colitis–Specific Quality of Life Questionnaire:A Prospective, Multi-Institutional Study
Jihye PARK ; Hyun-Soo ZHANG ; Chung Mo NAM ; Joo Sung KIM ; Young-Ho KIM ; Dong Il PARK ; Byong Duk YE ; Yoon Tae JEEN ; Sehyun KIM ; Jae Hee CHEON
Yonsei Medical Journal 2024;65(11):636-644
Purpose:
Interest in the quality of life (QoL) of patients with inflammatory bowel disease (IBD) has recently increased. Although measurement tools have been devised for IBD in general, there is no specific tool for measuring the QoL of patients with ulcerative colitis (UC). Therefore, we developed a QoL questionnaire specifically for patients with UC.
Materials and Methods:
The Korean Ulcerative Colitis-Specific Questionnaire (K-UCSQ) was developed through item generation, raw-scale construction, focus group meetings, and multi-center field tests. Two hundred patients with UC were recruited for a field test of the K-UCSQ, and subsequent responses to the Inflammatory Bowel Disease Questionnaire (IBDQ) were also obtained. After performing factor analyses to ensure construct validity, the K-UCSQ was finalized as a four-domain, 28-item questionnaire. Subsequent analyses evaluated the reliability of the K-UCSQ in terms of Cronbach’s alpha, concurrent validity in comparison with the pre-established IBDQ, and predictive validity of the area under the ROC curve (AUC) for clinically relevant QoL outcomes.
Results:
A Cronbach’s alpha of 0.94 showed excellent reliability. Furthermore, correlation analyses demonstrated the concurrent validity of the K-UCSQ in comparison with the IBDQ. The K-UCSQ also showed high validity in predicting the perceived overall health (AUC of 0.812 vs. 0.797 using the IBDQ) and past 2-week QoL (AUC of 0.864 vs. 0.859 using the IBDQ).
Conclusion
The newly developed K-UCSQ is concise, bathroom problem-emphasizing, and UC-specific, suggesting that it could be a valid and reliable UC-specific instrument for QoL measurement.
6.Development and Assessment of a Novel Ulcerative Colitis–Specific Quality of Life Questionnaire:A Prospective, Multi-Institutional Study
Jihye PARK ; Hyun-Soo ZHANG ; Chung Mo NAM ; Joo Sung KIM ; Young-Ho KIM ; Dong Il PARK ; Byong Duk YE ; Yoon Tae JEEN ; Sehyun KIM ; Jae Hee CHEON
Yonsei Medical Journal 2024;65(11):636-644
Purpose:
Interest in the quality of life (QoL) of patients with inflammatory bowel disease (IBD) has recently increased. Although measurement tools have been devised for IBD in general, there is no specific tool for measuring the QoL of patients with ulcerative colitis (UC). Therefore, we developed a QoL questionnaire specifically for patients with UC.
Materials and Methods:
The Korean Ulcerative Colitis-Specific Questionnaire (K-UCSQ) was developed through item generation, raw-scale construction, focus group meetings, and multi-center field tests. Two hundred patients with UC were recruited for a field test of the K-UCSQ, and subsequent responses to the Inflammatory Bowel Disease Questionnaire (IBDQ) were also obtained. After performing factor analyses to ensure construct validity, the K-UCSQ was finalized as a four-domain, 28-item questionnaire. Subsequent analyses evaluated the reliability of the K-UCSQ in terms of Cronbach’s alpha, concurrent validity in comparison with the pre-established IBDQ, and predictive validity of the area under the ROC curve (AUC) for clinically relevant QoL outcomes.
Results:
A Cronbach’s alpha of 0.94 showed excellent reliability. Furthermore, correlation analyses demonstrated the concurrent validity of the K-UCSQ in comparison with the IBDQ. The K-UCSQ also showed high validity in predicting the perceived overall health (AUC of 0.812 vs. 0.797 using the IBDQ) and past 2-week QoL (AUC of 0.864 vs. 0.859 using the IBDQ).
Conclusion
The newly developed K-UCSQ is concise, bathroom problem-emphasizing, and UC-specific, suggesting that it could be a valid and reliable UC-specific instrument for QoL measurement.
7.Pre‑ and post‑hemodialysis differences in heart failure diagnosis by current heart failure guidelines in patients with end‑stage renal disease
Bong‑Joon KIM ; Su‑Hyun BAE ; Soo‑Jin KIM ; Sung‑Il IM ; Hyunsu KIM ; Jung‑Ho HEO ; Ho Sik SHIN ; Ye Na KIM ; Yeonsoon JUNG ; Hark RIM
Journal of Cardiovascular Imaging 2024;32(1):6-
Background:
Patients with end-stage renal disease (ESRD) who are on hemodialysis (HD) have reduced vascular com‑ pliance and are likely to develop heart failure (HF). In this study, we estimated the prevalence of HF pre- and post-HD in ESRD using the current guidelines.
Methods:
We prospectively investigated HF in ESRD patients on HD using echocardiography pre- and post-HD. We used the structural and functional abnormality criteria of the 2021 European Society of Cardiology guidelines.
Results:
A total of 54 patients were enrolled. The mean age was 62.6 years, and 40.1% were male. Forty-five patients (83.3%) had hypertension, 28 (51.9%) had diabetes, and 20 (37.0%) had ischemic heart disease. The mean N-terminalpro brain natriuretic peptide BNP (NT-proBNP) level was 12,388.8 ± 2,592.2 pg/dL. The mean ideal body weight was 59.3 kg, mean hemodialysis time was 237.4 min, and mean real filtration was 2.8 kg. The mean left ventricular ejection fraction (LVEF) was 62.4%, and mean left ventricular end-diastolic diameter was 52.0 mm in pre-HD. Post-HD echocardiography showed significantly lower left atrial volume index (33.3 ± 15.9 vs. 40.6 ± 17.1, p = 0.030), tricuspid regurgitation jet V (2.5 ± 0.4 vs. 2.8 ± 0.4 m/s, p < 0.001), and right ventricular systolic pressure (32.1 ± 10.3 vs. 38.4 ± 11.6, p = 0.005) compared with pre-HD. There were no differences in LVEF, E/E′ ratio, or left ventricular global longitudinal strain. A total of 88.9% of pre-HD patients and 66.7% of post-HD patients had either structural or functional abnor‑ malities in echocardiographic parameters according to recent HF guidelines (p = 0.007).
Conclusions
Our data showed that the majority of patients undergoing hemodialysis satisfy the diagnostic criteria for HF according to current HF guidelines. Pre-HD patients had a 22.2% higher incidence in the prevalence of func‑ tional or structural abnormalities as compared with post-HD patients.
8.A new metric method for sex estimation using three-dimensional imaging of the nuchal crest
Yun taek SHIM ; Ye Hwon JEONG ; Nahyun AUM ; Hong-il HA ; Minsung CHOI ; Jin young HYUN ; Ho-seung LEE ; Yi-Suk KIM
Anatomy & Cell Biology 2024;57(4):535-542
In Walker’s nonmetric method, the nuchal crest serves as the representative region for indicating sexual dimorphism in cranial bones. However, the accuracy of sex estimation using the nuchal crest is lower than that using other anatomical regions. Furthermore, because of the protruding processes and structurally challenging features characterized by uneven and rough surfaces, there is a lack of metric methods for sex estimation, making quantification challenging. In this study, we aimed to validate a derived metric method for sex estimation by reconstructing the nuchal crest region in threedimensional (3D) images obtained from computed tomography scans of cranial bones and compare its accuracy with that of the nonmetric method. A total of 648 images were collected, with 100 randomly selected for use in the nonmetric method.We applied our metric method to the remaining 548 images. Our findings showed that the surface area of the nuchal crests was greater in male individuals than in female individuals. The nuchal crest surface area quantified by the metric method increased the accuracy of sex estimation by 48% compared with that by the nonmetric method. Our metric method for sex estimation, which quantifies the nuchal crest surface area using 3D images of the skull, led to a high sex estimation accuracy of 93%. Future studies should focus on proposing and quantifying new measurement methods for areas showing sexual characteristics in the skull that are difficult to measure, thereby enhancing the accuracy and reliability of sex estimation in human skeletal identification across various fields.
9.Development and Assessment of a Novel Ulcerative Colitis–Specific Quality of Life Questionnaire:A Prospective, Multi-Institutional Study
Jihye PARK ; Hyun-Soo ZHANG ; Chung Mo NAM ; Joo Sung KIM ; Young-Ho KIM ; Dong Il PARK ; Byong Duk YE ; Yoon Tae JEEN ; Sehyun KIM ; Jae Hee CHEON
Yonsei Medical Journal 2024;65(11):636-644
Purpose:
Interest in the quality of life (QoL) of patients with inflammatory bowel disease (IBD) has recently increased. Although measurement tools have been devised for IBD in general, there is no specific tool for measuring the QoL of patients with ulcerative colitis (UC). Therefore, we developed a QoL questionnaire specifically for patients with UC.
Materials and Methods:
The Korean Ulcerative Colitis-Specific Questionnaire (K-UCSQ) was developed through item generation, raw-scale construction, focus group meetings, and multi-center field tests. Two hundred patients with UC were recruited for a field test of the K-UCSQ, and subsequent responses to the Inflammatory Bowel Disease Questionnaire (IBDQ) were also obtained. After performing factor analyses to ensure construct validity, the K-UCSQ was finalized as a four-domain, 28-item questionnaire. Subsequent analyses evaluated the reliability of the K-UCSQ in terms of Cronbach’s alpha, concurrent validity in comparison with the pre-established IBDQ, and predictive validity of the area under the ROC curve (AUC) for clinically relevant QoL outcomes.
Results:
A Cronbach’s alpha of 0.94 showed excellent reliability. Furthermore, correlation analyses demonstrated the concurrent validity of the K-UCSQ in comparison with the IBDQ. The K-UCSQ also showed high validity in predicting the perceived overall health (AUC of 0.812 vs. 0.797 using the IBDQ) and past 2-week QoL (AUC of 0.864 vs. 0.859 using the IBDQ).
Conclusion
The newly developed K-UCSQ is concise, bathroom problem-emphasizing, and UC-specific, suggesting that it could be a valid and reliable UC-specific instrument for QoL measurement.
10.Development and Assessment of a Novel Ulcerative Colitis–Specific Quality of Life Questionnaire:A Prospective, Multi-Institutional Study
Jihye PARK ; Hyun-Soo ZHANG ; Chung Mo NAM ; Joo Sung KIM ; Young-Ho KIM ; Dong Il PARK ; Byong Duk YE ; Yoon Tae JEEN ; Sehyun KIM ; Jae Hee CHEON
Yonsei Medical Journal 2024;65(11):636-644
Purpose:
Interest in the quality of life (QoL) of patients with inflammatory bowel disease (IBD) has recently increased. Although measurement tools have been devised for IBD in general, there is no specific tool for measuring the QoL of patients with ulcerative colitis (UC). Therefore, we developed a QoL questionnaire specifically for patients with UC.
Materials and Methods:
The Korean Ulcerative Colitis-Specific Questionnaire (K-UCSQ) was developed through item generation, raw-scale construction, focus group meetings, and multi-center field tests. Two hundred patients with UC were recruited for a field test of the K-UCSQ, and subsequent responses to the Inflammatory Bowel Disease Questionnaire (IBDQ) were also obtained. After performing factor analyses to ensure construct validity, the K-UCSQ was finalized as a four-domain, 28-item questionnaire. Subsequent analyses evaluated the reliability of the K-UCSQ in terms of Cronbach’s alpha, concurrent validity in comparison with the pre-established IBDQ, and predictive validity of the area under the ROC curve (AUC) for clinically relevant QoL outcomes.
Results:
A Cronbach’s alpha of 0.94 showed excellent reliability. Furthermore, correlation analyses demonstrated the concurrent validity of the K-UCSQ in comparison with the IBDQ. The K-UCSQ also showed high validity in predicting the perceived overall health (AUC of 0.812 vs. 0.797 using the IBDQ) and past 2-week QoL (AUC of 0.864 vs. 0.859 using the IBDQ).
Conclusion
The newly developed K-UCSQ is concise, bathroom problem-emphasizing, and UC-specific, suggesting that it could be a valid and reliable UC-specific instrument for QoL measurement.

Result Analysis
Print
Save
E-mail