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.Myopia Management Consensus Statement in South Korean Children 2025 by the Korean Myopia Society for the Korean Association for Pediatric Ophthalmology and Strabismus
Yeon-Hee LEE ; Jae Yun SUNG ; Sun Young SHIN ; Young-Woo SUH ; Ungsoo Samuel KIM ; Hyunkyung KIM ; Kyung-Ah PARK ; Su Jin KIM ; MiRae KIM ; Hyun Jin SHIN ; Kyeong Wook LEE ; Haeng-Jin LEE ; So Young HAN ; Jinu HAN ; Eun Hee HONG ; Seung-Hee Hannah BAEK ; Hae Jung PAIK ;
Korean Journal of Ophthalmology 2026;40(2):185-205
Myopia, particularly high myopia, is a significant risk factor for several ocular pathologies including cataract, glaucoma, and retinal detachment. Excessive axial elongation associated with high myopia can induce biomechanical stretching, increasing the risk of serious complications like posterior staphyloma and myopic maculopathy. Global meta-analyses estimate that approximately 10 million people were visually impaired due to myopic maculopathy in 2015, with 3 million being blind. Recent nationwide surveys in South Korea revealed a prevalence of 65.4% for myopia and 6.9% for high myopia in children and adolescents, highlighting the urgent need for effective management. Delaying the onset and slowing the progression of myopia during childhood and adolescence is crucial for reducing the potential lifetime risk of these complications. This consensus statement, prepared by the Korean Myopia Society for the Korean Association for Pediatric Ophthalmology and Strabismus (KAPOS), reviews the current evidence for myopia control interventions and provides management strategies applicable to the South Korean clinical setting. Key interventions covered include lifestyle modifications (outdoor time, near work adjustment), optical methods (myopia-control spectacle lenses, dual-focus soft contact lenses, orthokeratology), and pharmacologic treatment (low-concentration atropine), as well as combination therapies. The statement also addresses patient selection, treatment outcome evaluation using spherical equivalent and axial length changes, and the crucial aspects related to treatment cessation and the rebound effect.
3.Ultrasound Imaging Features Associated With Neoplastic Gallbladder Polyps: A Systematic Review and Meta-Analysis
Sunyoung LEE ; Won CHANG ; Yeun-Yoon KIM ; Jin Young PARK ; Sun Kyung JEON ; Jeong Eun LEE ; Jeongin YOO ; Seungchul HAN ; So Hyun PARK ; Jae Hyun KIM ; Hyo Jung PARK ; Hyun-Soo ZHANG ; Jeong Hee YOON
Korean Journal of Radiology 2026;27(4):332-343
Objective:
Although most gallbladder polyps are benign, some neoplastic polyps may be malignant or may serve as precursors to malignancy. Distinguishing neoplastic and non-neoplastic polyps using imaging examinations remains a major challenge.This meta-analysis aimed to identify the ultrasound (US) features that are significantly associated with neoplastic polyps.
Materials and Methods:
The MEDLINE, EMBASE, Cochrane, and KoreaMed databases were searched for articles published up to August 31, 2025. Bivariate random-effects models were used to calculate the meta-analytic pooled diagnostic odds ratios (DORs), sensitivities, and specificities, along with their 95% confidence intervals (CIs), for each US imaging feature in the diagnosis of neoplastic polyps.
Results:
Thirty studies evaluating 8,953 patients, including 1,216 (13.6%) patients with neoplastic polyps, were included.Among the nine evaluated US imaging features, namely, size ≥10 mm, sessile morphology, single polyp, coexisting gallstones, hypoechogenicity, heterogeneous echogenicity, gallbladder wall thickening (GBWT), absence of hyperechoic spot, and vascularity, eight were significantly associated with neoplastic polyps: size ≥10 mm (DOR: 6.23 [95% CI: 1.86– 20.90]), sessile morphology (DOR: 3.54 [1.93–5.97]), single polyp (DOR: 2.21 [1.76–2.74]), coexisting gallstones (DOR:1.86 [1.29–2.60]), hypoechogenicity (DOR: 3.55 [1.47–7.30]), GBWT (DOR: 9.38 [1.47–32.20]), absence of hyperechoic spots (DOR: 4.23 [2.46–6.83]), and vascularity (DOR: 9.72 [5.81–15.30]). Of these, size ≥10 mm demonstrated the highest pooled sensitivity (0.79 [95% CI: 0.68–0.87]), whereas hypoechogenicity showed the highest pooled specificity (0.93 [95% CI: 0.82–0.98]).
Conclusion
Eight US imaging features (size ≥10 mm, sessile morphology, single polyp, coexisting gallstones, hypoechogenicity, GBWT, absence of hyperechoic spots, and vascularity) were significantly associated with the presence of neoplastic polyps.These features may facilitate the management of gallbladder polyps.
4.Potential Role of Imaging in the Evaluation of Adiposity and Approval of Anti-Obesity Drugs
So Yeon KIM ; Sang Eun WON ; Hyo Jung PARK ; ChangYun WOO ; Dong Wook KIM ; Chong Hyun SUH ; Kyung Won KIM
Korean Journal of Radiology 2026;27(1):48-62
The global increase in obesity highlights the need for accurate tools to assess body composition and monitor treatment efficacy.Traditional metrics, including body mass index and waist circumference, offer limited precision for fat quantification. Imagingbased techniques capable of visualizing internal structures are increasingly being recognized for their ability to provide comprehensive fat assessment. This review outlines the principles, strengths, and limitations of key modalities, including dualenergy X-ray absorptiometry (DXA), CT, MRI, and bioelectrical impedance analysis (BIA). DXA is cost-effective and accessible for population-level screening, whereas CT and MRI offer higher precision, particularly for visceral fat assessment. BIA is a practical, low-cost alternative, but it is limited by variability and lack of standardization. Regulatory agencies, including the US Food and Drug Administration and the Korean Ministry of Food and Drug Safety, are increasingly supporting imaging-based endpoints in clinical trials of anti-obesity drugs because these methods capture fat mass reduction beyond total weight loss. Recent phase III trials of semaglutide and tirzepatide have underscored the utility of DXA and CT in quantifying fat loss and preserving lean mass. Selecting appropriate imaging modalities based on technical capabilities and regulatory considerations can improve the evaluation of obesity treatments and strengthen the design of anti-obesity drug trials.
5.Vitamin/mineral and non-vitamin/ non-mineral supplement use of breast cancer survivors in Korea
Jioh KANG ; Jiyoung YOUN ; Hyun Jeong CHO ; Hyeong-Gon MOON ; Dong-Young NOH ; So-Youn JUNG ; Eun Sook LEE ; Zisun KIM ; Hyun Jo YOUN ; Jihyoung CHO ; Young Bum YOO ; Se Kyung LEE ; Jeong Eon LEE ; Seok Jin NAM ; Jun Won MIN ; Yoo Seok KIM ; Jihyoun LEE ; Seho PARK ; Joon JEONG ; Jung Eun LEE
Nutrition Research and Practice 2026;20(2):333-345
BACKGROUND/OBJECTIVES:
Dietary supplement use is common among breast cancer survivors, but studies on Asian populations remain limited. This study investigated dietary supplement use among Korean breast cancer survivors, distinguishing between vitamin/ mineral (VM) and non-vitaminon-mineral (NVNM) supplements.
SUBJECTS/METHODS:
This cross-sectional study included 1,136 stage I–III breast cancer survivors from 12 Korean hospitals, who survived more than 6 mon post-surgery. The participants completed a questionnaire on post-diagnostic dietary supplement use. Stepwise logistic regression was applied, calculating odds ratios (ORs) and 95% confidence intervals (CIs) to identify the demographic and clinical factors associated with VM and NVNM use.
RESULTS:
Seventy percent of survivors reported supplement use, with 25% using a single product. The most common VM supplements were multivitamins/minerals, vitamin D, and vitamin C, while the most common NVNM supplements included omega-3 fatty acids, probiotics, and ginseng. Survivors with higher education and greater physical activity were more likely to use VM supplements (ORs [95% CIs], 2.74 [1.76–4.25] for college graduates or above vs. middle school or below; 1.38 [1.02–1.88] for the most active group vs. the least active group). NVNM use was associated with higher education, greater physical activity levels, and a history of smoking (ORs [95% CIs], 2.29 [1.46–3.58] for college graduates or above vs. middle school or below; 1.52 [1.13–2.06] for the most active group vs. the least active group; 2.00 [1.23–3.25] for ever smokers vs. never smokers). Survivors who had undergone chemotherapy were also more likely to use NVNM supplements than those who had not (OR [95% CI], 1.37 [1.02–1.84]).
CONCLUSION
Seventy percent of Korean breast cancer survivors used dietary supplements in this study. VM use was associated with higher education and physical activity, while higher NVNM use was associated with higher education, greater physical activity, a history of smoking, and chemotherapy.
6.Neurobiological Mechanisms, Clinical Validity, and Real-World Implementation of Metaverse-Based Counseling for Adolescents through a School-Linked Mental Health Center
Sang Hyun BAEK ; Tae Young CHOI ; Jung Yeon MOON ; Hyang Hee JEONG ; Yun Kyong JEONG ; Se Jun PARK ; Jong Young EUN ; Eun Young JIN ; So Yeong YUK
Journal of the Korean Society of Biological Therapies in Psychiatry 2026;32(1):1-13
Metaverse-based mental health interventions have recently emerged as an extension of telepsychiatry, digital therapeutics (DTx), and virtual reality (VR)–based treatments for children and adolescents. The coronavirus disease 2019 pandemic accelerated the adoption of remote psychological assessment and intervention, raising critical questions regarding their clinical validity, developmental appropriateness, and long-term applicability in youth populations. Accumulating evidence has demonstrated that remote assessments and internet-based interventions can achieve clinical outcomes comparable to face-to-face approaches in selected domains, particularly anxiety, depression, and social communication difficulties. In parallel, immersive technologies such as VR and metaverse-based platforms have been applied to exposure-based interventions, social skills training, and emotion regulation in controlled and repeatable environments. This narrative review examined 48 empirical and review studies on telepsychiatry, internet-based cognitive behavioral therapy, DTx, VR, and metaverse-based interventions for children and adolescents. Neurobiological mechanisms relevant to fear extinction, executive function, emotion regulation, and social cognition were critically reviewed. In addition, real-world implementation experiences from a hospital-based Wee Center in Korea were integrated to evaluate feasibility within school-linked mental health services. The findings suggested that metaverse-based counseling should not be conceptualized as a stand-alone replacement for face-to-face treatment, but rather as a complementary, hybrid platform linking remote screening, structured digital intervention, and in-person clinical care. While current evidence supported feasibility and conditional clinical utility, further longitudinal, controlled, and cost-effectiveness studies were required to establish its role in pediatric mental health.
7.Korean Thyroid Association Guidelines on the Management of Differentiated Thyroid Cancers; Part II. Follow-up Surveillance after Initial Treatment 2026
Eun Kyung LEE ; Seung Heon KANG ; Bon Seok KOO ; Mijin KIM ; Min Joo KIM ; Bo Hyun KIM ; Ji Won KIM ; Dong Gyu NA ; Sohyun PARK ; Ji-In BANG ; Kyorim BACK ; Youngduk SEO ; Young-Ik SON ; Young Shin SONG ; Dong Yeob SHIN ; Jong-Hyuk AHN ; Hwa Young AHN ; So Won OH ; Ho-Ryun WON ; Won Sang YOO ; Min Kyoung LEE ; Sang-Woo LEE ; Jeongmin LEE ; Ji Ye LEE ; Dong-Jun LIM ; Ki-Wook CHUNG ; Ari CHONG ; Jin Hyang JUNG ; Sun Wook CHO ; Yoon Young CHO ; Chae Moon HONG ; Young Joo PARK ;
International Journal of Thyroidology 2026;19(1):1-40
In patients with differentiated thyroid cancer (DTC), initial recurrence risk stratification based on clinical, histopathological, and perioperative data remains the key determinant for guiding management strategies during the first 1-2 years post-treatment. However, the adoption of ongoing risk stratification (ORS), which dynamically reassesses risk by integrating longitudinal clinical data and treatment response, enables more precise long-term prognostic assessment and facilitates highly individualized management. Building upon recent guidelines, the 2026 KTA guideline has been further refined by incorporating robust evidence from large-scale national cohorts and comprehensive systematic reviews. These updated recommendations outline contemporary concepts of ORS, risk-adapted TSH suppression targets, optimized surveillance modalities for recurrence detection, and disease-specific long-term follow-up strategies. Reflecting the paradigm shift toward de-escalated treatment, this revision integrates evolved perspectives on TSH suppression intensity, the clinical interpretation of thyroglobulin levels, and tailored follow-up intervals. These evidence-based recommendations aim to minimize unnecessary treatment and excessive surveillance in the large proportion of patients with excellent prognosis after initial therapy, while ensuring that each patient receives appropriately tailored and effective long-term management.
8.Development and Evaluation of an Antimicrobial Stewardship Education Program for Physician Assistant Nurses: A One-Group Pretest-Posttest Design
Eun Young SI ; Tae Hyung KIM ; Mi Hee CHOI ; Hyo Bin PARK ; So Yeon KIM ; Hye Won KANG ; Hyun Hee KIM ; Ji Hye PARK ; Hye Ran KIM ; Hae Ju KIM ; Ga Hee KIM ; Su Rin PARK ; Jeong Hwa LEE ; Eun Ji PARK ; Ji Seon KIM ; Young Eun KIM
Journal of Korean Clinical Nursing Research 2026;32(1):94-106
Purpose:
This study aimed to develop and implement an antimicrobial stewardship education program for physician assistant nurses and to evaluate its effects on their knowledge and clinical performance.
Methods:
A quasi-experimental, single-group pre-post design was conducted with 50 physician assistant nurses at a university hospital in Seoul, Republic of Korea. The antimicrobial stewardship education program, developed using the ADDIE model, consisted of 12 sessions including lectures and case-based learning (CBL)-based discussions.Knowledge was measured before and immediately after the intervention, while performance was assessed pre-intervention and four weeks post-program. Data were analyzed using paired t-tests, Wilcoxon signed-rank tests, and analysis of covariance (ANCOVA).
Results:
Knowledge scores significantly improved from 44.65±7.45 to 58.50±10.11 (p<.001), and all subdomains showed significant increases (p<.001). Performance scores increased from 3.68±0.77 to 4.28±0.68 (p<.001). Knowledge gain did not differ significantly between the medical and surgical departments (p=.710). Likewise, after adjusting for pre-test scores, no significant difference in performance improvement was observed between the two departments (ANCOVA, p=.170). These results indicate that the program was effective across both departments regardless of their characteristics.
Conclusion
The antimicrobial stewardship education program improved both knowledge and performance among physician assistant nurses. This program may contribute to the standardization of antimicrobial stewardship education and to appropriate antimicrobial use and the reduction of antimicrobial resistance.
9.Dietary isoflavone intake among breast cancer survivors and cancer-free women
Sihan SONG ; Hyeong-Gon MOON ; Dong-Young NOH ; So-Youn JUNG ; Eun Sook LEE ; Zisun KIM ; Hyun Jo YOUN ; Jihyoung CHO ; Young Bum YOO ; Se Kyung LEE ; Jeong Eon LEE ; Seok Jin NAM ; Yoo Seok KIM ; Jun Won MIN ; Shinyoung JUN ; Hyojee JOUNG ; Jung Eun LEE
Nutrition Research and Practice 2025;19(1):80-95
BACKGROUND/OBJECTIVES:
Isoflavones are estrogen-like compounds found in plants and their health effects remain equivocal. We investigated dietary isoflavone intake and its associated factors in Korean breast cancer survivors, with a comparison to cancer-free women.
SUBJECTS/METHODS:
The usual dietary intake of breast cancer survivors (n = 981, mean age 52 yrs) in 9 hospitals between 2012 and 2019 was assessed using 3-day food records or food frequency questionnaires (FFQs). They were age-matched to 2,943 cancer-free women who completed FFQs as part of a nationwide study conducted between 2012 and 2016. We used the flavonoid database of common Korean foods and the Phenol-Explorer database to estimate isoflavone intake. The contribution of each food or food group to the total isoflavone intake was calculated. The adjusted least-squares means of dietary isoflavone intake according to lifestyle and clinical factors were calculated using generalized linear models.
RESULTS:
Breast cancer survivors had a higher mean dietary isoflavone intake (23.59 mg/day) than cancer-free women (17.81 mg/day). Major food sources, including tofu, soybeans, and doenjang, contributed to over 70% of the isoflavone intake in both groups. When we estimated dietary isoflavone intake according to lifestyle characteristics, isoflavone intake increased with higher scores of adherence to the American Cancer Society dietary guidelines but decreased with increasing body mass index in both groups. Among cancer-free women, dietary isoflavone intake was higher among those who had never smoked and among dietary supplement users. Among breast cancer survivors, dietary isoflavone intakes did not vary with clinical characteristics, including time since surgery and estrogen receptor status.
CONCLUSION
Breast cancer survivors were more likely to consume isoflavones than agematched cancer-free women. Dietary isoflavone intake was associated with healthy lifestyle characteristics in women both with and without breast cancer. Further research is needed to understand the role of the higher isoflavone intake among breast cancer survivors compared to cancer-free women on their prognosis.
10.Clinical evaluation and management of endometriosis: 2024 guideline for Korean patients from the Korean Society of Endometriosis
Hyun Joo LEE ; Sang-Hee YOON ; Jae Hoon LEE ; Youn-Jee CHUNG ; So Yun PARK ; Sung Woo KIM ; Yeon Hee HONG ; Sung Eun KIM ; Youjin KIM ; Sungwook CHUN ; Yong Jin NA
Obstetrics & Gynecology Science 2025;68(1):43-58
Endometriosis, a prevalent but debilitating condition affecting women, poses significant challenges in diagnosis and management. The current 2024 guideline, developed by the Korean Society of Endometriosis (KSE), builds upon the 2018 KSE guideline. This guideline aims to provide customized recommendations tailored to Korea’s unique clinical aspects and medical environment, and addresses key areas such as diagnosis, medical and surgical management, considerations for special populations, and its complex relationship with cancer.

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