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.Diagnostic Accuracy of Serological Tests for Mycoplasma pneumoniae Infections in Children with Pneumonia, Based on Symptom Onset
Gahee KIM ; Ki Wook YUN ; Dayun KANG ; Taek Jin LEE ; Byung Wook EUN ; Hyunju LEE ; Yae-Jean KIM ; Doo Ri KIM ; Areum SHIN ; Hyun Mi KANG ; Ye Ji KIM ; Byung Ok KWAK ; Younghee LEE ; Ye Kyung KIM ; Young June CHOE ; Woosuck SUH ; Kyo Jin JO ; Kyung-Ran KIM ; Eun Young CHO ; Kyung Min KIM ; Joon Kee LEE ; Su Eun PARK
Annals of Laboratory Medicine 2026;46(2):162-170
Background:
Mycoplasma pneumoniae is a major cause of community-acquired pneumonia (CAP) in children, with a rising incidence of macrolide resistance. Early diagnosis is crucial for reducing the disease burden; however, current diagnostic tools have limitations.We evaluated the diagnostic accuracy of serological assays and their performance based on symptom onset in children with CAP.
Methods:
From September 2023 to September 2024, we prospectively enrolled children with CAP, classified as M. pneumoniae pneumonia (MPP) or non-MPP, from 16 hospitals in Korea. Serological testing included chemiluminescence immunoassay (CLIA) and ELISA for detecting IgM and IgG, along with particle agglutination (PA) for total antibody measurements. Serological responses were analyzed at different times after symptom onset (0–4, 5–9, and 10–21 days).
Results:
Among 472 children with CAP (362 MPP, 110 non-MPP), 138 (29.2%) underwent PA testing, and 334 (70.8%) underwent IgM testing. PA at a 1:640 cutoff showed 48.0% sensitivity and 100% specificity. CLIA and ELISA showed comparable sensitivities (69.1% vs. 69.2%) and specificities (76.9% vs. 66.7%) for IgM testing. Seropositivity increased significantly with time since symptom onset (P for trend < 0.001), reaching 97.9% for IgM, 62.5% for IgG, and 94.7% for PA at 10–21 days.
Conclusions
The time post-symptom onset significantly influenced the diagnostic utility of serological tests for pediatric MPP, which showed limited value during the early stage of illness. These findings emphasize the importance of symptom onset-based interpretation of serological test results and their utility in complementing PCR when optimizing MPP diagnosis in children.
3.Epidemiology of Gastric Cancer in Korea (1999–2022): Incidence, Survival, and 5-Year Conditional Relative Survival
Ki Bum PARK ; Mee Joo KANG ; Johyun HA ; Eun Hye PARK ; E Hwa YUN ; Hye-Jin KIM ; Kyu-Won JUNG ; Han Hong LEE
Journal of Gastric Cancer 2026;26(1):4-15
Purpose:
This study evaluated long-term trends in gastric cancer epidemiology and survival with a focus on conditional relative survival (CRS).
Materials and Methods:
Using the Korea Central Cancer Registry, we analyzed 665,184 patients who were newly diagnosed with gastric cancer between 1999 and 2022.The study period was divided into four intervals: Period I (1999–2005), Period II (2006–2011), Period III (2012–2017), and Period IV (2018–2022). Temporal trends in the incidence and mortality were assessed using crude and age-standardized rates. Relative survival was estimated using the Ederer II method, and the 5-year CRS was calculated according to the survival duration after diagnosis.
Results:
The incidence of gastric cancer increased until 2011 and subsequently declined, with a marked decrease observed in 2020. Individuals aged ≥70 years consistently had the highest incidence rates. Mortality rates showed a sustained decline throughout the study period. The overall 5-year relative survival improved from 69.8% in Period II to 78.4% in Period IV. The 5-year CRS increased from 86.1% at 1 year after diagnosis to 96.3% at 5 years.Patients with localized stage maintained a 5-year CRS above 95% at 1 year after diagnosis, whereas those with regional and distant stages showed 5-year CRS that consistently remained below 95%.
Conclusions
The incidence and mortality rates of gastric cancer in Korea have declined over the past two decades, accompanied by improved survival outcomes. The CRS analysis suggests that long-term follow-up is warranted, with the optimal duration varying according to patient characteristics.
4.Development and evaluation of the Trauma-nursing Education and Skill Support program to enhance trauma nursing competencies: a quasi-experimental study
Tae Yeong YANG ; Myung Jin JANG ; Ki Ung KIM ; Min SO ; Mi Na CHOI ; Eun Jung LEE ; Jin Su JO ; Ji Yun LEE ; Kwang Kyun LIM ; Kyoung Mi KIM ; Hae Jun BAEK ; Sun Ho WANG ; Jin Oh CHOI
Journal of Korean Academy of Nursing 2026;56(1):67-80
Purpose:
This study aimed to develop and evaluate the effectiveness of the Trauma-nursing Education and Skill Support (TESS) program based on the ADDIE model (Analysis, Design, Development, Implementation, Evaluation model). The program was designed to enhance trauma nurses’ clinical competencies, including trauma-related knowledge, self-efficacy, and problem-solving ability, through the integration of theoretical education and simulation-based practice.
Methods:
A quasi-experimental study using a non-equivalent control group pretest–posttest design was conducted. Participants included 108 trauma nurses from regional trauma centers, military trauma centers, and emergency care facilities, who were assigned to an experimental group (n=52) or a control group (n=56). The TESS program consisted of a 2-day, 14-hour blended-learning course that included eight lecture sessions and four simulation-based practice stations. Data were collected at baseline, immediately after the intervention, and at 6 months using validated instruments measuring trauma-related knowledge, self-efficacy, and problem-solving ability. Two-way repeated-measures analysis of variance was used for data analysis.
Results:
The experimental group demonstrated significant improvements in trauma-related knowledge, self-efficacy, and problem-solving ability compared with baseline (all p<.001). These improvements were sustained at 6 months, although trauma-related knowledge scores showed a slight decline compared with immediate posttest levels. Between-group analyses confirmed significant group-by-time interaction effects for all outcomes: trauma-related knowledge (η2=0.12, p<.001), self-efficacy (η2=0.09, p=.002), and problem-solving ability (η2=0.08, p=.003).
Conclusion
The TESS program effectively enhanced trauma nurses’ trauma-related knowledge, self-efficacy, and problem-solving ability, with effects sustained for up to 6 months. Incorporating blended learning and simulation-based training into standardized trauma nursing education may strengthen clinical competencies and ultimately contribute to improved patient outcomes.
5.Eligibility and causes of disqualification among living liver donor candidates: A single-center analysis of 991 candidates
Eun-Ju NAM ; Jong-Hyun KIM ; Hae-In SHIN ; Young-In YOON ; Deok-Bog MOON ; Ki-Hun KIM ; Tae-Yong HA ; Gi-Won SONG ; Dong-Hwan JUNG ; Gil-Chun PARK ; Shin HWANG ; Sung-Gyu LEE
Annals of Liver Transplantation 2026;6(1):17-24
Background:
A systematic evaluation of potential living liver donors is essential to ensure donor safety and optimize recipient outcomes in living donor liver transplantation (LDLT). This study aimed to assess donor acceptance rates and reasons for disqualification among individuals evaluated for LDLT at a high-volume transplant center over a one-year period.
Methods:
We retrospectively reviewed 1,087 potential living liver donors who presented for LDLT evaluation in 2023. Of these, 991 candidates advanced beyond the initial screening (Stage 1) and underwent comprehensive clinical, imaging, and pathological assessments (Stages 2 and 3). Candidates who discontinued after Stage 1 were excluded due to the absence of documented reasons for non-progression.
Results:
Among the 991 candidates who proceeded beyond initial screening, 473 (47.7%) completed the full donor evaluation, of whom 466 were judged to be suitable donors. Among suitable donors, 384 (82.4%) proceeded to donor hepatectomy, whereas 82 did not, primarily due to recipient-related factors such as clinical deterioration or withdrawal of consent. Donor ineligibility was determined in 422 candidates (42.6%), most commonly due to inadequate remnant liver volume (52.8%), hepatic steatosis (20.6%), and insufficient graft size (10.2%). Among candidates undergoing Stage 2 evaluation, 162 (16.3%) failed to meet steatosis criteria; 126 were excluded solely for steatosis and advised weight reduction, and 39 subsequently became eligible and successfully donated.
Conclusion
In this high-volume LDLT center, donor disqualification was primarily driven by remnant liver volume and hepatic steatosis. Targeted interventions such as weight reduction enabled successful donation in a subset of initially ineligible candidates, underscoring the importance of individualized donor evaluation and pre-donation optimization.
6.MHY5456, an FXR Agonist, Ameliorates Hepatic Steatosis and Fibrosis in a Mouse Model of MASLD
Mi-Jeong KIM ; Hyejin KANG ; Jian YOO ; Sugyeong HA ; Jeongwon KIM ; Byeong Moo KIM ; Da Eun PARK ; Hae Young CHUNG ; Donghwan KIM ; Hyung Ryong MOON ; Ki Wung CHUNG
Biomolecules & Therapeutics 2026;34(3):652-665
Metabolic dysfunction-associated steatotic liver disease (MASLD) has emerged as a global health issue due to its increasing prevalence associated with lifestyle changes and its strong correlation with metabolic syndrome. Farnesoid X receptor (FXR) is a nuclear receptor that plays a pivotal role in regulating bile acid, lipid, and glucose metabolism, making it an attractive therapeutic target for liver and metabolic diseases. In this study, we investigated the effects of MHY5456, a synthetic agonist of FXR, on hepatic metabolism and fibrosis. MHY5456 enhanced the transcriptional activity of FXR in a concentration-dependent manner.Treatment of AC2F rat liver-derived cells with MHY5456 resulted in the downregulation of genes involved in lipid accumulation and an upregulation of mitochondrial-related gene expression. Additionally, MHY5456 significantly reduced oleic acid (OA)-induced lipid accumulation. To assess its anti-fibrotic potential, we tested its effects on transforming growth factor-beta (TGF-β)-induced fibrosis in LX2 human hepatic stellate cells (HSCs). MHY5456 significantly suppressed the expression of fibrosis-related genes and proteins. In vivo, administration of MHY5456 to mice fed a methionine-choline-deficient (MCD) diet alleviated hepatic fibrosis, inflammation, and lipid accumulation. These results show that FXR activation by MHY5456 modulates lipid metabolism and fibrotic pathways, suggesting its potential as a pharmacological candidate for liver and metabolic disorders, including MASLD. Further pharmacological and toxicological studies are needed to confirm its therapeutic relevance.
7.Comparison of hemoglobin variability between short- and intermediate-acting erythropoiesis-stimulating agents: a retrospective cohort study
Da Eun PARK ; Hae Dong CHOI ; Young Eun PARK ; Ki Baek KIM ; A Young KIM ; Kyu Hyang CHO ; Jong Won PARK ; Jun Young DO ; Seok Hui KANG
Journal of Yeungnam Medical Science 2026;43(1):36-
Background:
This study aims to compare the effects of short- and intermediate-acting erythropoiesis-stimulating agents (ESAs) on hemoglobin (Hb) variability in patients undergoing maintenance hemodialysis.
Methods:
This retrospective cohort study included 119 patients who were classified into two groups based on ESA type: short-acting ESA (epoetin alfa/beta [EPO], n=48) and intermediate-acting ESA (darbepoetin alfa [DPO], n=71). Hb levels were measured 11 times at 4-week intervals from ESA therapy initiation to 40 weeks of follow-up. This study used established metrics from previous research, including standard deviation (SD), coefficient of variation (CV), and residual SD, to quantify Hb variability.
Results:
Over the 40-week study period with 4-week measurement intervals, mean Hb levels were comparable between the two ESA groups. In the EPO and DPO groups, SD was 0.67±0.19 g/dL and 0.69±0.22 g/dL, respectively (p=0.516), CV was 0.06±0.02 and 0.07±0.02, respectively (p=0.480), and residual SD was 0.73±0.21 g/dL and 0.76±0.26 g/dL, respectively (p=0.463). No significant differences in Hb variability were observed between the groups over 40 weeks using SD, CV, and residual SD.
Conclusion
This retrospective cohort study showed comparable mean Hb levels and Hb variability indices between groups. With respect to Hb variability, the findings reveal no clear basis for prioritizing either short-acting or intermediate-acting ESA.
8.Effects of a clinical nurse educator-led new nurse education program on individual and organizational outcomes: Application of the Kirkpatrick model
Myo Youn KIM ; Ji Hoe YUN ; Seul Ki LEE ; Jeong Eun SIM
Journal of Korean Academic Society of Nursing Education 2026;32(1):28-36
Purpose:
This study evaluated the effects of a clinical nurse educator (CNE)-led training program for newly graduated nurses on individual and organizational outcomes using Kirkpatrick’s four-level evaluation model.
Methods:
A quasi-experimental, nonequivalent control group pretest-posttest design was employed. A total of 367 new nurses from a tertiary hospital in Korea participated, including 186 in the control group (traditional training, 2022 cohort) and 181 in the experimental group (CNE-led training, 2023 cohort). Data were obtained from institutional records. Outcomes included educational satisfaction, clinical knowledge scores, discontinuation of the nurse residency program (NRP) before independent practice, patient safety incident reports, and one-year personnel turnover.
Results:
Clinical knowledge scores improved significantly in the experimental group compared with the control group (p=.021). The one-year personnel turnover rate decreased significantly from 27.4% to 18.8% (p=.043). Although educational satisfaction and NRP discontinuation rates improved, the differences were not statistically significant. No significant differences were observed in patient safety incident reports.
Conclusion
The CNE-led training program effectively enhanced clinical competence and reduced early personnel turnover. These findings underscore the importance of structured onboarding programs in promoting early clinical adaptation and strengthening organizational retention.
9.Challenges and Controversies in Perioperative Immunotherapy in Early-Stage Non-small Cell Lung Cancer: An Optimistic Perspective
Tuberculosis and Respiratory Diseases 2026;89(2):184-192
Immune checkpoint inhibitors have transformed the treatment landscape of non-small cell lung cancer (NSCLC), extending their role from metastatic to resectable disease. While neoadjuvant and adjuvant immunotherapies have each shown clinical value, recent evidence suggests that a perioperative strategy—incorporating both preoperative and postoperative immune-based treatment—may provide more consistent and durable survival benefits, especially in stage IIIA and high programmed death-ligand 1 (PD-L1)–expressing tumors. Despite concerns about feasibility and immune-related adverse events, phase III trials such as CheckMate 816, KEYNOTE-671, and AEGEAN have demonstrated that perioperative chemoimmunotherapy is both effective and tolerable in real-world practice. This review examines the rationale, clinical trial data, patient selection criteria, and safety profile of perioperative immunotherapy, and argues for its increasing adoption as a strategic standard in eligible NSCLC patients. Additionally, emerging biomarkers and circulating tumor DNA-based minimal residual disease surveillance hold promise for refining precision of perioperative treatment. Taken together, the evidence supports perioperative immunotherapy as a forward-looking, evidence-based approach to improving outcomes in resectable NSCLC.
10.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.

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