1.Applying National Whole-genome Sequencing Findings for Rare Diseases in Clinical Practice: The Imperative of a Multidisciplinary Approach
Kyung Sun PARK ; Sunghwan SHIN ; Jong-Ho PARK ; Young-Eun KIM ; Won Kyung KWON ; Min-Kyung SO ; Changhee HA ; Ja-Hyun JANG ; Taeheon LEE ; Chang-Seok KI ; Yoonjung KIM ; Kyung-A LEE ; Inho PARK ; Sejoon LEE ; Hong-Hee WON ; ; Jong-Won KIM
Annals of Laboratory Medicine 2026;46(1):94-103
Background:
As nationwide government-led whole-genome sequencing (WGS) projects progress, optimizing the clinical integration of large-scale WGS results is crucial. We explored how the initial analysis from Korea’s First WGS Pilot Study for Rare Diseases was applied in clinical practice, and then we reanalyzed the data comprehensively at Samsung Medical Center (SMC) Seoul, Korea.
Methods:
A prospective cohort study designed to collect WGS data under a Korean national initiative was conducted from August 2020 to December 2021. We focused on patients with rare diseases recruited from 16 university hospitals. The participants included 5,000 individuals (2,200 probands and 2,800 family members). The initial WGS data and diagnostic reference reports (from 682 probands and 484 family members), generated based on the First Korean WGS Pilot Study for Rare Diseases, were subsequently reanalyzed by SMC.
Results:
The initial analysis of the First Korean WGS Pilot Study data revealed a diagnostic rate of 17%. Upon receiving these results, the SMC conducted two rounds of reanalysis, increasing the diagnostic rate from 15% in the first analysis, to 18% in the second, and finally to 24% in the third (P = 1.6 × 10 −5 ). Key factors in improving the genetic diagnosis included increased detection of novel (likely) pathogenic variants (P = 1.0 × 10 −4 ), improved diagnostic rates with larger family recruitment (P = 0.004), and refined clinical information for more precise genotype–phenotype correlation analysis (40%).
Conclusions
Although national WGS projects lay a foundation for rare disease diagnosis, hospital-level reanalysis and multidisciplinary collaborations are crucial for optimizing diagnostic outcomes.
2.Comparison of Digital Mammography Plus Full ABUS Review and Digital Mammography Plus Selective ABUS Review Guided by ABUS Artificial Intelligence–Computer-Aided Diagnosis for Breast Cancer Screening
Inyoung YOUN ; Su Min HA ; Myoung-jin JANG ; Mi-ri KWON ; Jung Min CHANG
Korean Journal of Radiology 2026;27(2):111-121
Objective:
To compare two breast cancer screening strategies, digital mammography (DM) plus radiologist-interpreted automated breast ultrasound (ABUS) and DM plus selective ABUS review, in which only examinations positive for DM or flagged by ABUS artificial intelligence–computer-aided diagnosis (AI-CAD) were reviewed by radiologists.
Materials and Methods:
This retrospective study included asymptomatic women who underwent DM and ABUS screening for breast cancer between March 2022 and March 2023. The radiologists’ interpretations of DM and ABUS without AI assistance (DM + ABUS_radiologist) were collected from the clinical radiology reports. A selective DM plus ABUS reading strategy was simulated, in which only cases interpreted as positive in the radiologist’s DM report or flagged by retrospectively applied ABUS AI-CAD were triaged for further evaluation through a full review by radiologists (DM + ABUS_AI-CAD). The cancer detection rate (CDR), sensitivity, specificity, and abnormal interpretation rate (AIR) were calculated and compared between DM + ABUS_ radiologist and DM + ABUS_AI-CAD groups using the McNemar’s test.
Results:
Among 2,275 women (mean age, 56.1 ± 8.6 years), 12 cancers were diagnosed. The sensitivity, CDR and AIR for DM + ABUS_radiologist was 83.3% (10/12; 95% confidence interval [CI]: 51.6–97.9), 4.4 (10/2,275; 95% CI: 2.1–8.1) per 1,000 screening examinations and 16.7% (379/2,275; 95% CI: 15.1–18.3), respectively. DM + ABUS_AI-CAD triaged 84.0% (1,910/2,275) of the examinations as negative in both DM reports and retrospectively applied ABUS AI-CAD, requiring radiologist reassessment in only 16.0% (365/2,275). This approach reduced the AIR to 7.3% (167/2,275) and improved the specificity from 83.7% (1,894/2,263) to 93.1% (2,107/2,263) (all P < 0.001), while maintaining a CDR of 4.8 per 1,000 and a sensitivity of 91.7% (11/12) (all P > 0.999), compared to the DM + ABUS-radiologist.
Conclusion
An AI-CAD-assisted selective ABUS reading strategy reduces unnecessary recalls and improves specificity, which may help optimize reading priorities and reduce the reading workload while maintaining cancer detection performance.
3.Development of a no-contact health promotion behavior program for the digital generation: A simplified one-group pretest/posttest design for nursing students
Myoung-Lyun HEO ; Seung-Ha KIM ; Chang-Sik NOH ; Yang-Min JANG
Journal of Korean Academic Society of Nursing Education 2025;31(1):84-95
Purpose:
This study aimed to develop a no-contact health promotion behavior program for nursing students as representatives of young adults and to evaluate its effects and applicability.
Methods:
We employed a one-group pretest/posttest design to develop a no-contact health promotion behavior program for young adults and to assess its impacts on post-pandemic health promotion behavior, health self-efficacy, depression, and stress among nursing students. Using an online ad, we recruited young adults aged 19 to 29 living in South Korea who were attending nursing school; those who provided informed consent to participate in the study were enrolled.
Results:
The no-contact health promotion behavior program was effective at improving health promotion behavior (Z=-2.90, p=.004) and health self-efficacy (Z=-2.24, p=.025) and at alleviating depression (Z=-2.13, p=.033).
Conclusion
This study confirmed the potential of a no-contact program to advance health management among young adults. It also substantiated the program’s effects on fostering experiences and promoting personal health among nursing students, who are prospective healthcare professionals.
4.Development of a no-contact health promotion behavior program for the digital generation: A simplified one-group pretest/posttest design for nursing students
Myoung-Lyun HEO ; Seung-Ha KIM ; Chang-Sik NOH ; Yang-Min JANG
Journal of Korean Academic Society of Nursing Education 2025;31(1):84-95
Purpose:
This study aimed to develop a no-contact health promotion behavior program for nursing students as representatives of young adults and to evaluate its effects and applicability.
Methods:
We employed a one-group pretest/posttest design to develop a no-contact health promotion behavior program for young adults and to assess its impacts on post-pandemic health promotion behavior, health self-efficacy, depression, and stress among nursing students. Using an online ad, we recruited young adults aged 19 to 29 living in South Korea who were attending nursing school; those who provided informed consent to participate in the study were enrolled.
Results:
The no-contact health promotion behavior program was effective at improving health promotion behavior (Z=-2.90, p=.004) and health self-efficacy (Z=-2.24, p=.025) and at alleviating depression (Z=-2.13, p=.033).
Conclusion
This study confirmed the potential of a no-contact program to advance health management among young adults. It also substantiated the program’s effects on fostering experiences and promoting personal health among nursing students, who are prospective healthcare professionals.
5.Development of a no-contact health promotion behavior program for the digital generation: A simplified one-group pretest/posttest design for nursing students
Myoung-Lyun HEO ; Seung-Ha KIM ; Chang-Sik NOH ; Yang-Min JANG
Journal of Korean Academic Society of Nursing Education 2025;31(1):84-95
Purpose:
This study aimed to develop a no-contact health promotion behavior program for nursing students as representatives of young adults and to evaluate its effects and applicability.
Methods:
We employed a one-group pretest/posttest design to develop a no-contact health promotion behavior program for young adults and to assess its impacts on post-pandemic health promotion behavior, health self-efficacy, depression, and stress among nursing students. Using an online ad, we recruited young adults aged 19 to 29 living in South Korea who were attending nursing school; those who provided informed consent to participate in the study were enrolled.
Results:
The no-contact health promotion behavior program was effective at improving health promotion behavior (Z=-2.90, p=.004) and health self-efficacy (Z=-2.24, p=.025) and at alleviating depression (Z=-2.13, p=.033).
Conclusion
This study confirmed the potential of a no-contact program to advance health management among young adults. It also substantiated the program’s effects on fostering experiences and promoting personal health among nursing students, who are prospective healthcare professionals.
6.Gender and Menopause Impact on Recurrence and Cancer-Specific Mortality in Bladder Cancer After Radical Cystectomy: A Retrospective Cohort Study
Jee Soo PARK ; Won Sik JANG ; Jieun HEO ; Won Sik HAM ; Kyung Hwan KIM ; Jong Kil NAM ; Bum-Jin LIM ; Bum Sik HONG ; Wook NAM ; Sangchul LEE ; Jong Jin OH ; Seung Hwan JEONG ; Ja Hyeon KU ; Tae Il NOH ; Sung Gu KANG ; Seok Ho KANG ; Yun-Sok HA ; Tae Gyun KWON ; Tae‑Hwan KIM ; Jongchan KIM ; Geehyun SONG ; Ho Kyung SEO ; Wan SONG ; Hyun Hwan SUNG ; Byong Chang JEONG
Journal of Urologic Oncology 2025;23(1):88-93
Purpose:
Although bladder cancer occurs three to 4 times more frequently in men than in women, the relative number of deaths compared to incidence is higher in women, suggesting that women have a worse prognosis than men. Emerging evidence indicates that the activity of the sex steroid hormone pathway may play a role in bladder cancer development, with demonstrations that both androgens and estrogens have biological effects on bladder cancer in vitro and in vivo. This study investigates the influence of sex and menopausal status on recurrence and cancer-specific death (CSD) in bladder cancer patients undergoing radical cystectomy (RC).
Materials and Methods:
This retrospective analysis included 3,913 patients from the Korean Bladder Cancer Study Group Database who underwent RC between 2010 and 2019. Patients were categorized based on gender and menopausal status (≤50 years: premenopausal; >50 years: postmenopausal). Pathological factors, neoadjuvant chemotherapy, recurrence, and CSD rates were analyzed using chi-square and Fisher exact tests.
Results:
Among the 3,913 patients, 400 (10.2%) were female. Premenopausal females exhibited significantly lower recurrence rates (28.6%) compared to postmenopausal females (45.7%). CSD rates were similarly reduced in premenopausal females (12.0% vs. 22.2% in postmenopausal females). No significant sex differences in recurrence or CSD were observed among premenopausal patients. Pathological T stage, nodal status, and lymphovascular invasion were significantly associated with recurrence in males, while nodal status alone was significant in females. Neoadjuvant chemotherapy was significantly more frequently administered to male patients under the age of 50, while no difference was observed in the administration of neoadjuvant chemotherapy among female patients based on menopausal status.
Conclusion
Hormonal changes associated with menopause significantly influence bladder cancer outcomes in women. Premenopausal hormonal environments seem protective, underscoring the need for further research into hormone-driven mechanisms in bladder cancer.
7.Simultaneous Viability Assessment and Invasive Coronary Angiography Using a Therapeutic CT System in Chronic Myocardial Infarction Patients
Seongmin HA ; Yeonggul JANG ; Byoung Kwon LEE ; Youngtaek HONG ; Byeong-Keuk KIM ; Seil PARK ; Sun Kook YOO ; Hyuk-Jae CHANG
Yonsei Medical Journal 2024;65(5):257-264
Purpose:
In a preclinical study using a swine myocardial infarction (MI) model, a delayed enhancement (DE)-multi-detector computed tomography (MDCT) scan was performed using a hybrid system alongside diagnostic invasive coronary angiography (ICA) without the additional use of a contrast agent, and demonstrated an excellent correlation in the infarct area compared with histopathologic specimens. In the present investigation, we evaluated the feasibility and diagnostic accuracy of a myocardial viability assessment by DE-MDCT using a hybrid system comprising ICA and MDCT alongside diagnostic ICA without the additional use of a contrast agent.
Materials and Methods:
We prospectively enrolled 13 patients (median age: 67 years) with a previous MI (>6 months) scheduled to undergo ICA. All patients underwent cardiac magnetic resonance (CMR) imaging before diagnostic ICA. MDCT viability scans were performed concurrently with diagnostic ICA without the use of additional contrast. The total myocardial scar volume per patient and average transmurality per myocardial segment measured by DE-MDCT were compared with those from DE-CMR.
Results:
The DE volume measured by MDCT showed an excellent correlation with the volume measured by CMR (r=0.986, p<0.0001). The transmurality per segment by MDCT was well-correlated with CMR (r=0.900, p<0.0001); the diagnostic performance of MDCT in differentiating non-viable from viable myocardium using a 50% transmurality criterion was good with a sensitivity, specificity, positive predictive value, negative predictive value, and accuracy of 87.5%, 99.5%, 87.5%, 99.5%, and 99.1%, respectively.
Conclusion
The feasibility of the DE-MDCT viability assessment acquired simultaneously with conventional ICA was proven in patients with chronic MI using DE-CMR as the reference standard.
8.Quantitative Analysis of the Effect of Stereotactic Radiosurgery for Postoperative Residual Cervical Dumbbell Tumors: A Multicenter Retrospective Cohort Study
Sang Hyub LEE ; Sun Woo JANG ; Hong Kyung SHIN ; Jeoung Hee KIM ; Danbi PARK ; Chang-Min HA ; Sun-Ho LEE ; Dong Ho KANG ; Young Hyun CHO ; Sang Ryong JEON ; Sung Woo ROH ; Jin Hoon PARK
Neurospine 2024;21(1):293-302
Objective:
Stereotactic radiosurgery (SRS) has been performed for spinal tumors. However, the quantitative effect of SRS on postoperative residual cervical dumbbell tumors remains unknown. This study aimed to quantitatively evaluate the efficacy of SRS for treating postoperative residual cervical dumbbell tumors.
Methods:
We retrospectively reviewed cases of postoperative residual cervical dumbbell tumors from 1995 to 2020 in 2 tertiary institutions. Residual tumors underwent SRS (SRS group) or were observed with clinical and magnetic resonance imaging (MRI) follow-up (observation group). Tumor regrowth rates were compared between the SRS and observation groups. Additionally, risk factors for tumor regrowth were analyzed.
Results:
A total of 28 cervical dumbbell tumors were incompletely resected. Eight patients were in the SRS group, and 20 in the observation group. The mean regrowth rate was not significantly lower (p = 0.784) in the SRS group (0.18 ± 0.29 mm/mo) than in the observation group (0.33 ± 0.40 mm/mo). In the multivariable Cox regression analysis, SRS was not a significant variable (hazard ratio [HR], 0.57; 95% confidence interval [CI], 0.18–1.79; p = 0.336).
Conclusion
SRS did not significantly decrease the tumor regrowth rate in our study. We believe that achieving maximal resection during the initial operation is more important than postoperative adjuvant SRS.
9.Colon cancer: the 2023 Korean clinical practice guidelines for diagnosis and treatment
Hyo Seon RYU ; Hyun Jung KIM ; Woong Bae JI ; Byung Chang KIM ; Ji Hun KIM ; Sung Kyung MOON ; Sung Il KANG ; Han Deok KWAK ; Eun Sun KIM ; Chang Hyun KIM ; Tae Hyung KIM ; Gyoung Tae NOH ; Byung-Soo PARK ; Hyeung-Min PARK ; Jeong Mo BAE ; Jung Hoon BAE ; Ni Eun SEO ; Chang Hoon SONG ; Mi Sun AHN ; Jae Seon EO ; Young Chul YOON ; Joon-Kee YOON ; Kyung Ha LEE ; Kyung Hee LEE ; Kil-Yong LEE ; Myung Su LEE ; Sung Hak LEE ; Jong Min LEE ; Ji Eun LEE ; Han Hee LEE ; Myong Hoon IHN ; Je-Ho JANG ; Sun Kyung JEON ; Kum Ju CHAE ; Jin-Ho CHOI ; Dae Hee PYO ; Gi Won HA ; Kyung Su HAN ; Young Ki HONG ; Chang Won HONG ; Jung-Myun KWAK ;
Annals of Coloproctology 2024;40(2):89-113
Colorectal cancer is the third most common cancer in Korea and the third leading cause of death from cancer. Treatment outcomes for colon cancer are steadily improving due to national health screening programs with advances in diagnostic methods, surgical techniques, and therapeutic agents.. The Korea Colon Cancer Multidisciplinary (KCCM) Committee intends to provide professionals who treat colon cancer with the most up-to-date, evidence-based practice guidelines to improve outcomes and help them make decisions that reflect their patients’ values and preferences. These guidelines have been established by consensus reached by the KCCM Guideline Committee based on a systematic literature review and evidence synthesis and by considering the national health insurance system in real clinical practice settings. Each recommendation is presented with a recommendation strength and level of evidence based on the consensus of the committee.
10.Clinical Outcomes of Solid Organ Transplant Recipients Hospitalized with COVID-19: A Propensity Score-Matched Cohort Study
Jeong-Hoon LIM ; Eunkyung NAM ; Yu Jin SEO ; Hee-Yeon JUNG ; Ji-Young CHOI ; Jang-Hee CHO ; Sun-Hee PARK ; Chan-Duck KIM ; Yong-Lim KIM ; Sohyun BAE ; Soyoon HWANG ; Yoonjung KIM ; Hyun-Ha CHANG ; Shin-Woo KIM ; Juhwan JUNG ; Ki Tae KWON
Infection and Chemotherapy 2024;56(3):329-338
Background:
Solid-organ transplant recipients (SOTRs) receiving immunosuppressive therapy are expected to have worse clinical outcomes from coronavirus disease 2019 (COVID-19). However, published studies have shown mixed results, depending on adjustment for important confounders such as age, variants, and vaccination status.
Materials and Methods:
We retrospectively collected the data on 7,327 patients hospitalized with COVID-19 from two tertiary hospitals with government-designated COVID-19 regional centers. We compared clinical outcomes between SOTRs and non-SOTRs by a propensity score-matched analysis (1:2) based on age, gender, and the date of COVID-19 diagnosis. We also performed a multivariate logistic regression analysis to adjust other important confounders such as vaccination status and the Charlson comorbidity index.
Results:
After matching, SOTRs (n=83) had a significantly higher risk of high-flow nasal cannula use, mechanical ventilation, acute kidney injury, and a composite of COVID-19 severity outcomes than non-SOTRs (n=160) (all P <0.05). The National Early Warning Score was significantly higher in SOTRs than in non-SOTRs from day 1 to 7 of hospitalization ( P for interaction=0.008 by generalized estimating equation). In multivariate logistic regression analysis, SOTRs (odds ratio [OR], 2.14; 95% confidence interval [CI], 1.12–4.11) and male gender (OR, 2.62; 95% CI, 1.26– 5.45) were associated with worse outcomes, and receiving two to three doses of COVID-19 vaccine (OR, 0.43; 95% CI, 0.24–0.79) was associated with better outcomes.
Conclusion
Hospitalized SOTRs with COVID-19 had a worse prognosis than non-SOTRs. COVID-19 vaccination should be implemented appropriately to prevent severe COVID-19 progression in this population.

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