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.Considerations of Flow Cytometric Lymphocyte Subset Analysis in Korea Based on a Survey of Current Clinical Laboratory Practice
Mikyoung PARK ; Hyun-Woo CHOI ; Jihyang LIM ; Kyung-Hwa SHIN ; Eun-Jee OH ; Jaewoo SONG ; Kyeong-Hee KIM ; In Hwa JEONG ; Joo-Heon PARK ; Sang-Hyun HWANG ; Eun-Suk KANG
Annals of Laboratory Medicine 2026;46(2):220-225
Flow cytometric lymphocyte subset analysis (FCLSA) is essential for assessing immune status across various diseases and clinical settings. We surveyed current clinical laboratory practices related to FCLSA to establish a baseline reference for future standardization in Korea. Nine university hospitals actively performing FCLSA responded to the 22-question survey, which covered seven categories of laboratory practice. These hospitals used commercial reagent antibody kits from either Beckton Dickinson Biosciences (N = 4) or Beckman Coulter Diagnostics (N = 5). Most hospitals performed daily instrument setup and scheduled maintenance every 2–6 months. Two levels of commercial quality control materials were routinely used each day. Sample and reagent antibody volumes varied across hospitals, even when the same reagent kit was used. Acquired cell counts ranged from 5 × 10 3 to 5 × 10 4 cells, with two hospitals adjusting counts based on the cell type analyzed. Most laboratories reported percentages and general opinions; some additionally reported white blood cell and lymphocyte counts, along with lymphocyte percentages. This is the first comprehensive survey on the clinical laboratory practice of FCLSA in Korea.Standardization of FCLSA should be accelerated to ensure reliable and reproducible results.
3.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.
4.Reference Values for Extended Lymphocyte Subsets in Korean Children: A Multicenter Study Using the EuroFlow PIDOT Panel
Kyung-Hwa SHIN ; Hyun-Woo CHOI ; Jihyang LIM ; Eun-Suk KANG
Annals of Laboratory Medicine 2026;46(3):297-308
Background:
Current reference intervals for lymphocyte subpopulations are primarily based on Western populations, with limited data available for Korean children, particularly for extended subsets. We determined absolute cell counts and percentages of lymphocyte subpopulations in Korean children, according to age and sex.
Methods:
Samples from 92 children—stratified into two age groups, groups 1 (5–9 yrs) and 2 (10–17 yrs)—were obtained. Immunophenotyping was performed via flow cytometry using the Primary Immunodeficiency Orientation Tube (PIDOT) panel, primarily classifying the cells into T, B, and natural killer cell populations. T lymphocytes were divided into CD4+ , CD8+ , and CD4– CD8– subsets; T and B cells were further subdivided according to their maturation stage.
Results:
Children in group 1 exhibited higher absolute counts of total B cells, unswitched memory B cells/plasma cells, total T cells, CD4+ naïve cells, and TCRγδ+ T cells than those in group 2. In contrast, Group 2 children showed higher absolute counts of CD4+ effector memory (EM) T cells. Males had higher absolute counts of total B cells, particularly pregerminal center B cells, CD4+ EM cells, and CD8+ terminally differentiated T cells, whereas females showed higher proportions of CD4+ , CD4+ naïve, and CD8 + central memory/transitional memory T cells.
Conclusions
To the best of our knowledge, this study is the first to establish reference values for extended lymphocyte subsets in Korean children using the PIDOT panel. Age, sex, and laboratory-related factors influenced lymphocyte subset distributions. These findings may serve as reference data for immune disorders and immunotherapy in pediatric populations.
5.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.
6.Development and usability evaluation of a web-based healthy eating practice questionnaire for Korean preschool children: a child–parent dyad approach
Young-Hee HAN ; Dawon PARK ; Dahyeon KIM ; Saerom SHIN ; Eun Yeol WOO ; Hye-Kyung PARK ; Taisun HYUN
Nutrition Research and Practice 2026;20(1):132-144
BACKGROUND/OBJECTIVES:
The illustrated Healthy Eating Practice Questionnaire (HEPQ) was previously developed to assess food preferences, eating behaviors, hand/oral hygiene practices, and nutrition knowledge among Korean preschool children. Nevertheless, the lack of an integrated scoring system has limited its interpretability. This study developed a scoring system and a web-based platform with tailored feedback using a child-parent dyad approach.
SUBJECTS/METHODS:
The development process consisted of 5 phases: 1) questionnaire preparation for online use, 2) formulation of the scoring system, 3) determination of the cut-off values for three levels of healthy eating practices based on a child-parent survey, 4) technical development of the online platform, and 5) usability evaluation. A scoring system was established by standardizing the domain scores to a 100-point scale. One hundred child– parent pairs participated in the survey to calculate the Healthy Eating Practice Score (HEPS) and determine cut-off values for the HEPS levels. The validity of the cut-off values was examined by a comparison with the Nutrition Quotient for Preschoolers (NQ-P). A web-based platform was developed, and 47 child–parent pairs were used to assess its usability.
RESULTS:
Significant positive correlations were observed between child and parent HEPS across all domains. The HEPS-based classification showed good discriminative ability because higher HEPS levels were consistently associated with higher NQ-P scores in children and parents. The web-based HEPQ was easy to use and understand, and almost all participants (97.9% of children and 93.6% of parents) reported no difficulties using the platform.
CONCLUSION
The web-based HEPQ platform with an integrated scoring system provides a valid, user-friendly tool for assessing and interpreting healthy eating practices in preschool children. This platform supports parental engagement in children’s healthy eating practices and provides a practical tool for evaluating the effectiveness of nutrition education in early childcare settings.
7.Development of an artificial intelligence-based prediction platform for early recurrence of resectable pancreatic cancer after curative surgery–toward future use as an indication for neoadjuvant treatment: a retrospective multicenter cohort study
So Jeong YOON ; Sung Hyun KIM ; Hongbeom KIM ; Sang Hyun SHIN ; Jin Seok HEO ; Seung Soo HONG ; Chang Moo KANG ; Kyung Sik KIM ; Ho Kyoung HWANG ; In Woong HAN
Annals of Surgical Treatment and Research 2026;110(2):76-83
Purpose:
Neoadjuvant treatment (NAT) is now the standard for borderline resectable pancreatic cancer (RPC) and is being considered for RPC. Early recurrence after curative surgery in RPC is often seen as a treatment failure, prompting considerations for NAT. Our goal was to develop an artificial intelligence (AI)-based predictive model utilizing preoperatively available factors to forecast early recurrences of resected RPC.
Methods:
This study included 469 patients who underwent surgery for RPC between 2011 and 2019. Clinicopathologic and oncologic data were retrospectively reviewed. Preoperative variables, including laboratory data and imaging findings, were collected. Early recurrence was defined as recurrence occurring within a year after surgery. Deep neural networks were then used to select variables by assessing their importance. A new model predicting early recurrence of RPC was subsequently developed.
Results:
Of the patients evaluated, 199 (42.4%) experienced early recurrence. The predictive model included 14 preoperative variables: CA 19-9, preoperative pancreatitis, serum albumin, platelet count, lymphocyte count, the American Society of Anesthesiologists physical status classification, tumor size, monocyte count, age, body mass index, CRP, hemoglobin, WBC count, and CEA. The area under the curve for the model was 0.786 in the training set and 0.734 in the test set.
Conclusion
We developed an AI-based model to predict the early recurrence of RPC using preoperative parameters. By identifying patients at risk of early recurrence, optimal individualized treatments such as NAT can be considered. Future prospective studies are crucial to establish clear indications for NAT in RPC.
8.Prosthetic rehabilitation of traumatized maxillary anterior teeth using a digital workflow: a case report
Jong-Hyun SHIN ; Sang-Ah LEE ; Lee-Ra CHO ; Chan-Jin PARK ; Kyung-Ho KO ; Yoon-Hyuk HUH
The Journal of Korean Academy of Prosthodontics 2026;64(1):84-94
The maxillary anterior region is critical for esthetics and function, requiring precise analysis and restoration when damaged by trauma. This case report presents the restorative process using a digital workflow for a patient with anterior trauma. A 22-year-old female exhibited fractures and extrusive luxation of maxillary central incisors, diagnosed with pulp necrosis. After endodontic treatment, intraoral and facial scans were performed, and provisional and definitive restorations were digitally designed. Various shade-matching techniques were employed to achieve natural esthetics. The definitive prosthesis improved harmony between the incisal edge and lower lip, as well as tooth axis, length, and zenith position, fulfilling the patient’s esthetic demands. This case suggests that combining digital technology and gingivectomy with a minimally invasive approach enables esthetic and functional restoration of the maxillary anterior region.
9.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.
10.Factors Associated with Nursing Intention among Korean Clinical Nurses for COVID-19 Patient Care: a Cross-Sectional Study
Ji Hyun KIM ; Sung Hee SHIN ; Soojung JO ; Vicki SIMPSON
Journal of Korean Academy of Nursing Administration 2026;32(1):39-48
The coronavirus disease 2019 (COVID-19) pandemic has substantially influenced nursing environments and has underscored the importance of active patient care. Nursing intention plays a critical role in the provision of care for patients with COVID-19; however, limited evidence exists regarding the factors that influence nurses’ intention to provide patient care specific to COVID-19. This study aimed to examine factors associated with nursing intention for COVID-19 patient care, guided by the Theory of Planned Behavior. Methods: This study employed a cross-sectional descriptive design. Data were collected from August 30 to October 1, 2020, using structured questionnaires completed by 169 clinical nurses working in hospitals with more than 600 beds in Seoul, Korea. The collected data were analyzed using multiple regression analysis. Results: Behavioral beliefs (β=.34, p<.001) and perceived behavioral control (β=.24, p<.001) were significantly associated with nursing intention for COVID-19 patient care. Conclusion: There is a need to develop specific strategies and educational programs to enhance nursing intention for COVID-19 patient care in the context of emerging infectious diseases by strengthening behavioral beliefs and perceived behavioral control. Providing up-to-date care protocols or simulation-based education may help increase nurses’ behavioral beliefs and perceived behavioral control.

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