1.The Influence of Metabolic Dysfunction-Associated Steatotic Liver Disease and Body Mass Index on the Incidence of Alzheimer Disease: A Nationwide Cohort Study
Tae Seop LIM ; Seok Jong CHUNG ; Jimin JEON ; Ja Kyung KIM ; Jinkwon KIM
Gut and Liver 2026;20(1):107-116
Background/Aims:
This study aimed to investigate the influence of metabolic dysfunction-associated steatotic liver disease (MASLD) and body mass index (BMI) on the incidence of Alzheimer disease (AD) in the general South Korean population.
Methods:
The National Screening Program for Transitional Ages collected data from 66-year-old dementia-free Koreans in 2010 and 2011. MASLD was diagnosed based on the fatty liver index(≥30) and the presence of metabolic components, and overweight/obese status was defined as a BMI ≥23 kg/m 2 . The primary outcome was the development of AD up to December 2021.Multivariable Cox analyses were performed to evaluate whether the presence of MASLD or overweight/obese status influenced the risk of developing AD.
Results:
A total of 376,902 dementia-free individuals aged 66 years were included in this cohort. The participants were categorized into four groups: overweight/obese non-MASLD (30.4%, n=114,528), overweight/obese MASLD (37.0%, n=139,551), lean non-MASLD (29.9%, n=126,692), and lean MASLD (2.7%, n=10,131). During a mean follow-up period of 10.38±1.90 years, 23,874 individuals (6.3%) were newly diagnosed with AD. Compared to the overweight/ obese non-MASLD group, the adjusted hazard ratios (95% confidence interval) for AD in the lean MASLD, lean non-MASLD, and overweight/obese MASLD groups were 1.34 (1.24 to 1.45), 1.08 (1.04 to 1.13), and 1.13 (1.09 to 1.17), respectively.
Conclusions
A normal/underweight BMI and the presence of MASLD synergistically increased the risk of AD. The lean MASLD group had a higher risk of developing AD than the overweight/ obese MASLD group, suggesting that the clinical relevance of MASLD for incident AD differs based on the BMI.
2.Artificial intelligence-based personalized oncological outcome prediction model for upper urinary tract urothelial carcinoma after radical nephroureterectomy: A development and multicenter validation
Hyun Young LEE ; Hwanik KIM ; Bumjin LIM ; Dalsan YOU ; Cheryn SONG ; In Gab JEONG ; Jun Hyuk HONG ; Bumsik HONG ; Hanjong AHN ; Seung-hwan JEONG ; Ja Hyeon KU ; Jungyo SUH
Investigative and Clinical Urology 2026;67(1):15-23
Purpose:
To develop and validate an artificial intelligence (AI)-based personalized outcome prediction model for upper-urinary tract urothelial carcinoma patients undergoing radical nephroureterectomy.
Materials and Methods:
Data from patients who underwent radical nephroureterectomy between 2010 and 2020 across three hospitals were retrospectively analyzed. A model was developed using one tertiary center’s data and externally validated with data from two other hospitals. An AI model using XGBoost as risk estimator and bootstrapped Weibull Accelerated Failure Time model for 10-year survival probability was employed. Hyperparameter tuning used Optuna method. Model efficacy was assessed using concordance index, average Brier score, D-calibration, and six-month interval time-dependent area under the curve (AUC).
Results:
Of 1,039 patients, 627 qualified after excluding 50 with neoadjuvant chemotherapy. Model development used 564 patients (507 training, 57 test) with 9:1 stratified random split, plus 63 for internal validation and 362 for external validation. Significant parameters included preoperative glomerular filtration rate (p<0.001), hydroureteronephrosis (p=0.013), pathological N stage (p<0.001), concurrent carcinoma in situ (p<0.001), disease progression (p<0.001), and survival rate (p<0.001). Disease-free survival (DFS) model’s concordance index: internal validation 0.789, external validations 0.734 and 0.771. Overall survival (OS) model’s concordance index: internal validation 0.819, external validations 0.780 and 0.771. Mean time-dependent AUC was 0.66–0.77 for DFS and 0.67–0.80 for OS during 10-year periods.
Conclusions
AI-based model effectively predicts disease-free and OS outcomes for upper-urinary tract urothelial carcinoma patients with post-radical nephroureterectomy, showcasing robust performance across multicenter settings.
3.Plan and operations of the 10th Korea National Health and Nutrition Examination Survey (2025–2027)
Sun-Ja KIM ; Sihyun PARK ; Sunja KIM ; Suyeon PARK ; Yoonjung KIM ; Yunjung CHOI ; Sungha YUN ; Kyungwon OH
Epidemiology and Health 2026;48(1):e2026001-
The Korea National Health and Nutrition Examination Survey (KNHANES) is a national health survey mandated by Article 16 of the National Health Promotion Act to assess the health and nutritional status of the Korean population. Over the past 2 decades, the survey has continuously introduced timely survey components while strengthening its survey methodology and operational systems to enhance both the policy relevance and scientific utility of its findings. The 10th KNHANES (2025–2027) preserves the statistical representativeness of its sampling design while expanding the use of web-based self-administered questionnaires to improve participant convenience. In response to Korea’s transition into a super-aged society, the 10th KNHANES incorporates enhanced older-adult health surveys, including osteoporosis assessment and older adults’ life functioning, and newly introduces items addressing social support as part of the social determinants of health. In addition, a longitudinal follow-up survey system has been established to monitor long-term changes in population health. Collectively, these changes are expected to improve understanding of aging-related health issues, support evidence-based national health policy development, and expand the applicability of KNHANES data for academic research.
4.Influence of Incidental Pulmonary Nodules on Surgical Decision-Making in Thyroid Cancer: a Nationwide Survey
Ja Kyung LEE ; Sukmin YUN ; Eunji KIM ; Yoon KONG ; Hyeong Won YU ; Min Joo KIM ; Jae Hoon MOON ; June Young CHOI
International Journal of Thyroidology 2026;19(1):68-77
Background and Objectives:
The clinical significance of incidental pulmonary nodules detected during thyroid cancer evaluation remains unclear. This study aimed to investigate how such findings affect surgical decisionmaking and whether management differs by physician characteristics.
Materials and Methods:
A web-based survey was distributed to 722 active members of the Korean Thyroid Association in March 2025. Eligible participants included board-certified endocrinologists, endocrine surgeons, and otolaryngologists actively treating thyroid cancer. The questionnaire included clinical scenarios featuring incidental lung nodules found during thyroid cancer work-up, with respondents asked to choose preferred surgical extent (thyroid lobectomy vs. total thyroidectomy) and management approaches.
Results:
Out of 72 physicians who completed the survey, half (n=36, 50.0%) of the respondents answered that the presence of incidental lung nodules could influence their decision on thyroidectomy extent. Among those influenced by lung nodules, 86.1% recommended total thyroidectomy in patients with high- or intermediate-risk thyroid cancer, while 11.1% would do so for all thyroid cancer patients.Endocrinologists, compared to surgeons, were more likely to choose total thyroidectomy in patients with preoperative incidental lung nodules (78.3% vs. 36.7%, p=0.001).
Conclusion
Incidental lung nodules may influence surgical planning in clinicians due to the risk of micrometastasis from thyroid cancer. Endocrinologists tend to favor a more extensive surgical approach compared to surgeons, reflecting greater concern for potential metastatic disease. These findings underscore the need for multidisciplinary consensus guidelines for the management of incidental pulmonary nodules in thyroid cancer patients.
5.Assessment of Fat Fraction and Muscle Atrophy in the Supraspinatus Muscle:Optimal Sagittal Plane Selection in the Shoulder MRI
Chanyoung RHEE ; Hye Jin YOO ; Tae Kun KIM ; Hee Dong CHAE ; Ja-Young CHOI ; Sung Hwan HONG
Investigative Magnetic Resonance Imaging 2026;30(1):29-37
Purpose:
To assess the accuracy of supraspinatus muscle fat fraction and atrophy measured on the Y-view compared with the newly proposed fossa-view sagittal MRI plane.
Materials and Methods:
This study included 84 patients (36 male; mean age, 65.1 ± 10.1 years) who underwent shoulder MRI with extended oblique sagittal T1-weighted and three-dimensional (3D) six-echo Dixon imaging between December 2020 and November 2022. The reference fat fraction was calculated by integrating voxel-wise Dixon values, while supraspinatus muscle volume was quantified using a 3D nnU-Net algorithm and normalized to the scapular volume to derive the standardized muscle index (SMI). Fat fraction and cross-sectional area were quantified on the Y-view and fossaview and compared with the reference values. Subgroup analyses were performed using fatty degeneration and retraction grades.
Results:
Agreement with the reference fat fraction was significantly higher for the fossa-view (intraclass correlation coefficient [ICC], 0.923) than for the Y-view (ICC, 0.822;p = 0.006). The fossa-view showed smaller deviations and narrower limits of agreement.For SMI, the Y-view (ICC, 0.782) showed higher agreement than the fossa-view (ICC, 0.694), although the difference was not statistically significant (p = 0.219). Subgroup analyses showed better Y-view performance at lower retraction grades and better fossa-view performance at higher grades, although the differences were not statistically significant (all p > 0.05).
Conclusion
Both planes reliably quantified the fat fraction with greater accuracy in the fossa-view. However, single-plane assessment of muscle atrophy was less reliable, underscoring the need for MRI evaluation of the entire muscle.
6.Neoadjuvant Concurrent Chemoradiotherapy for Duodenal-invasive Ascending Colon Cancer: Case Series
Seong Hyun KOH ; Jae Hyun KIM ; Seun Ja PARK
Journal of Digestive Cancer Research 2026;14(1):109-114
Duodenal invasion by ascending colon cancer is an uncommon and challenging manifestation of locally advanced right-sided colon cancer. Its optimal management remains debatable, particularly regarding the use of neoadjuvant concurrent chemoradiotherapy (CCRT). We retrospectively reviewed seven patients (aged 63–80 years) with ascending colon adenocarcinoma with duodenal invasion who were treated with neoadjuvant CCRT between 2012 and 2025 at a single tertiary center. Clinical staging ranged from stage IIC to IVB. Treatment strategies included neoadjuvant CCRT followed by curative-intent surgery when feasible and palliative chemotherapy and/or radiotherapy in advanced or inoperable cases. Among the seven patients, five underwent curative surgery following CCRT. Of these, four achieved long-term, recurrencefree survival for 99 months or more (average 102.5 months). One experienced recurrence after initial treatment and died of progressive disease. The remaining two patients did not undergo surgery because of disease progression or poor response to initial therapy, resulting in death or loss to follow-up. Histology revealed moderately to poorly differentiated adenocarcinoma and signet ring cell carcinoma. Neoadjuvant CCRT is feasible and effective in some patients with ascending colon cancer and duodenal invasion, supporting en bloc resection while minimizing surgical morbidity. Prospective studies are warranted to establish optimal treatment protocols.
8.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.
9.Age-Stratified Genetic Spectrum of Retinitis Pigmentosa in Korean Patients: Predominance of RPGR Variants in Early-Onset Disease
Youn-Ji HONG ; Sungsoon HWANG ; Ja-Hyun JANG ; Jong-Won KIM ; Sang Jin KIM ; Mi-Ae JANG
Annals of Laboratory Medicine 2026;46(2):200-209
Background:
Retinitis pigmentosa (RP) comprises a heterogeneous group of inherited retinal dystrophies. The genetic landscape of RP has been characterized; however, knowledge gaps regarding age-specific genetic variation trends in Korean patients remain. We comprehensively characterized the age-stratified genetic landscape of RP in Korean patients, with a focus on identifying novel mutational trends and clinically actionable insights.
Methods:
We performed targeted next-generation sequencing of 199 genes associated with RP and related disorders in a cohort of 403 unrelated patients clinically diagnosed as having RP. We analyzed the inheritance patterns, variation spectrum, and prevalence of pathogenic variants, stratifying the results by age, and conducted copy number variation (CNV) analysis.
Results:
A genetic diagnosis was achieved for 193 of the 403 patients (48%). The diagnostic yield was highest in patients diagnosed before 20 yrs of age (60%), with lower yields in older age groups. Although USH2A and EYS, the most common causative genes in autosomal recessive inheritance, were frequently identified, RPGR pathogenic variants accounted for a significantly larger proportion of genetically solved cases diagnosed before the age of 20 yrs (27%–28%) than in those with later-onset disease (9%–15%). CNVs were identified in 4% of genetically solved cases.
Conclusions
The results underscore distinct, age-related genetic contributions to RP in Korean patients, with RPGR variants demonstrating relevance in early-onset disease, and provide diagnostic insights to improve current practices. These findings can aid in prioritizing gene therapy targets and refining screening strategies.
10.Development and qualitative validation of a virtual reality simulation program for managing behavioral and psychological symptoms of dementia and delirium superimposed on dementia: A pilot study
Young Jin KIM ; Kyoung Ja MOON
Journal of Korean Gerontological Nursing 2026;28(1):74-87
Behavioral and psychological symptoms of dementia (BPSD) and delirium superimposed on dementia (DSD) can lead to severe complications if they are not accurately identified and managed. Effective dementia care therefore requires clear differentiation, systematic assessment, and appropriate nursing interventions. This study aimed to develop VRDementia: BPSD/DSD, a virtual reality simulation program, and to qualitatively examine its validity and usability as a development-based pilot study. Methods: Using the ADDIE model (Analysis, Design, Development, Implementation, Evaluation), the program was systematically developed. During the analysis phase, qualitative interviews and literature reviews identified educational needs among nurses in long-term care hospitals. Key challenges included distinguishing agitation/aggression (BPSD) from hyperactive DSD, and depression (BPSD) from hypoactive DSD. Based on these findings, four case-based scenarios were created. Content validity and usability were qualitatively evaluated through semi-structured interviews with five experienced nurses (≥5 years of clinical experience). Results: The program consists of four sessions addressing agitation/aggression and depression (BPSD), and hyperactivity and hypoactivity (DSD). Nurses practice symptom assessment, therapeutic communication, physician reporting, and nursing interventions. The simulation is accessible via head-mounted display (HMD), mobile devices, and PC (including laptops). Qualitative feedback indicated that participants perceived the program as useful and applicable for dementia care education, including its potential use in interdisciplinary training contexts. Conclusion: VRDementia: BPSD/DSD is a valid, practical educational tool that improves nurses’ competence in distinguishing and managing BPSD and DSD. This program may contribute to higher quality dementia care in clinical settings.

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