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.

Background: This study investigated the relationship between work-life balance (WLB), effort-reward imbalance (ERI), and presenteeism among Korean wageworkers through two models used simultaneously. Methods: Data from the 6th Korean Working Conditions Survey for 28,669 Korean workers, including 13,513 men and 15,156 women, were analyzed. All analyses were performed with pre-designed weight. Multiple logistic regression analysis was used to analyze the association between WLB, ERI, and presenteeism among Korean workers. The participants were classified into the following four groups: group 1, status of both WLB and ERI is “balanced”; group 2, WLB and ERI status are “imbalanced” and “balanced”, respectively; group 3, WLB and ERI status are “balanced” and “imbalanced”, respectively; group 4: status of both WLB and ERI is “imbalanced.” Results: We found that WLB and ERI were associated with presenteeism in both men and women. Depending on their WLB and ERI status, women generally had a higher tendency of presenteeism than men. Multiple logistic regression shows that, in most models and groups, there is an increased odds ratio (OR) for presenteeism in both men and women compared to the reference value. Moreover, the OR in both men and women gradually increased in groups 2, 3, and 4 compared with group 1. When considering both WLB and ERI status simultaneously, ERI had a greater impact on presenteeism than WLB. Furthermore, it was found that a synergistic effect of presenteeism manifests when both WLB and ERI are in a state of imbalance simultaneously. Conclusions Using the two models simultaneously, we found an association between WLB, ERI, and presenteeism according to sex with a synergistic effect among Korean workers. Our research suggests that active interventions targeting WLB and ERI are necessary to reduce presenteeism, which ultimately leads to decreased productivity.

Objective: To evaluate the diagnostic performance of the “probable hepatocellular carcinoma (HCC)” category in the Korean Liver Cancer Association-National Cancer Center (KLCA-NCC) v2022 guidelines. Materials and Methods: This multicenter retrospective study included patients at risk of HCC who underwent gadoxetic acid-enhanced MRI between January 2015 and June 2018; a subgroup of these patients also underwent liver CT. Eligible patients had at least one non-cystic lesion (≥10 mm) with a reference standard. Four radiologists interpreted the images independently and the results were pooled. The performance of “definite HCC” and “probable HCC” together and “probable HCC” alone were compared between v2018 and v2022. Results: A total of 2,237 patients (1,666 men; mean age, 59 ± 11 years) with 2,445 lesions were included. In v2022, 1.5% (143/9,780) of the lesions were additionally categorized as “probable HCC” by four reviewers on MRI; among these, 104 lesions were not HCCs. Focal nodular hyperplasia (FNH) or FNH-like nodules constituted 90.4% (94/104) of the false positives. When “definite HCC” and “probable HCC” were combined, v2022 showed higher sensitivity (83.7% [5,670/6,776] vs. 83.1% [5,631/6,776]) but lower specificity (77.1% [2,316/3,004] vs. 80.6% [2,420/3,004]) than v2018 (P < 0.001). For “probable HCC” alone, v2022 showed a lower positive predictive value (PPV) than v2018 (64.1% [373/582] vs. 76.1% [334/439], P < 0.001). In v2022, lesions with non-rim arterial-phase hyperenhancement (APHE) showed a lower PPV than those without APHE (42.3% [91/215] vs. 76.8% [282/367], P < 0.001). In the CT subgroup (n = 1,590), 1.6% (99/6,360) of the lesions were reassessed as “probable HCC,” and its PPV was 83.8% (83/99) in v2022 whereas no lesions were classified as “probable HCC” under v2018. Conclusion The revised “probable HCC” category in the KLCA-NCC v2022 aligns with updates in the diagnostic flow, demonstrating acceptable performance on MRI and CT. Notably, FNH or FNH-like nodules can be misclassified as “probable HCC” when MRI is used.

Background: Melanoma, though less common than other cutaneous malignancies, remains clinically significant. In Asia, acral and nailunit melanoma—less related to ultraviolet exposure—pose diagnostic and reconstructive challenges. Clarifying temporal and anatomic trends in melanoma within plastic surgery practice may enhance early recognition and guide standardized reconstruction. Methods: We retrospectively reviewed 960 surgically treated cutaneous malignancies (2000–2022) in a tertiary plastic surgery department, classifying tumors as basal cell carcinoma (BCC), squamous cell carcinoma (SCC), malignant melanoma (MM), or others. For MM, we analyzed anatomic site (headeck, trunk, non-acral extremity, acral), sex, age, comorbidities, and lifestyle factors, comparing period A (2000–2017) with period B (2018–2022). Group comparisons used the chi-square or Fisher exact test and the Mann-Whitney test. Incidence rates were calculated with Poisson confidence intervals; between-period differences were evaluated using exact binomial tests and rate ratios. Results: Of 960 tumors, BCC, SCC, MM, and others comprised 47.4%, 44.3%, 5.8%, and 2.5%. MM site distribution was heterogeneous: headeck 14.3%, trunk 30.4%, non-acral extremity 21.4%, acral 33.9%. Distribution shifted significantly (chi-square p= 0.043), with headeck lesions decreasing from 28.0% to 3.2% and trunk and acral lesions each increasing to 38.7%. Annual MM incidence rose from 1.39 to 6.20 cases per year (rate ratio, 4.46; p< 0.001). Hypertension (64.5%) and diabetes (35.5%) were more frequent in period B. Conclusion Recent years showed a sharply increased MM caseload and redistribution toward trunk and acral sites with greater metabolic comorbidity, reflecting both epidemiologic change and evolving detection or referral patterns.

Purpose: To develop the 2025 update to the Korean colorectal cancer (CRC) screening guidelines by systematically evaluating recent evidence, integrating domestic data, and addressing changes since the 2015 guideline revision, thereby providing an evidence-based standard for clinicians and policymakers. Methods: A multidisciplinary committee developed the guidelines using the Grading of Recommendations, Assessment, Development and Evaluation (GRADE) methodology. The process included formulation of three key questions addressing screening efficacy, diagnostic accuracy, and optimal screening age and interval. A systematic review of international guidelines and primary literature was conducted, yielding 327 eligible studies. In addition, a utility-based analysis using a Markov model was performed to determine optimal screening ages and intervals. Results: The evidence synthesis identified high-certainty evidence supporting the use of the fecal immunochemical test (FIT) for reducing CRC mortality and moderate-certainty evidence for colonoscopy. Evidence for computed tomographic colonography (CTC) and stool DNA testing was rated as very low certainty. Based on the evidence review and cost-utility analysis, the committee conditionally recommends CRC screening for asymptomatic, average-risk adults aged 45–74 years using either colonoscopy every 10 years or FIT every 1–2 years. CTC and stool DNA testing were not recommended owing to insufficient evidence. Conclusion The 2025 Korean Guidelines for Colorectal Cancer Screening present updated, evidence-based recommendations tailored to the domestic healthcare context. By conditionally endorsing both colonoscopy and FIT for individuals aged 45–74 years, these guidelines aim to improve population-level screening effectiveness and reduce the burden of CRC in South Korea.

Objectives: This study examined factors associated with health-related quality of life (HRQoL) in Korean adults. Methods: Using data from 5,620 participants in the 9th Korea National Health and Nutrition Examination Survey, obesity was defined as body mass index ≥25 kg/m2 and HRQoL assessed by the health-related quality of life instrument with 8 items (HINT-8). Complex survey weights were applied. Results: General linear and multiple regression analyses showed that among women, obesity was significantly associated with lower HINT-8 scores (B=-0.008, p=0.032), while no association was found in men. Age, household income, education, perceived stress, and smoking were also significantly related to HRQoL in both sexes. Conclusions HRQoL in Korean adults is influenced by obesity, socioeconomic status, and mental health indicators. The adverse effect of obesity observed only in women highlights the need for sex-specific public health strategies and the relevance of culturally adapted tools such as the HINT-8.

Objective: To classify life stages for companion dogs and cats by identifying clusters in age-specific disease proportions derived from medical records, providing a data-driven foundation for health examination programs. Methods: We collected 505,667 medical records from 82 veterinary facilities in South Korea between 2020 and 2023. Diagnoses were standardized using GPT-4o and S-BioBERT. Following preprocessing, data from 27 facilities yielded 222,706 canine and 39,910 feline records for the final analysis. Principal component analysis and K-means clustering (K = 4) were applied to age-specific disease proportions to identify life stages.The 10 most highest-proportion diagnoses diseases were determined for each cluster. Results: Canine life stages were classified as ≤ 1 year, 2–5 years, 6–10 years, and 11–15+ years.Feline life stages were 1–2 years, 3–8 years, 9–12 years, and 13–15+ years. In dogs, developmental diseases were common in the youngest age group, while chronic diseases were more prevalent in older groups. In cats, oral and urinary diseases were high-ranking, conjunctivitis was most common in the early stage, and chronic diseases increased with age. Conclusions and Relevance: Age-specific diagnosis patterns support four practical life stages for dogs and cats in South Korea. These boundaries can inform evidence-based preventive examination schedules, animal health policy, and pet insurance product design.

Pediatric vulvar hematoma typically results from straddle-type injuries and is usually managed with nonoperative measures. However, rapid progression and the risk of complications in some cases, including tissue necrosis, infection, and urinary retention, necessitate surgical intervention. The highly vascularized anatomy of the vulva allows for rapid hematoma expansion, requiring careful assessment of hematoma size, progression, functional impairment, and hemodynamic stability when determining the treatment strategy. In addition, genital trauma during developmental periods can influence self-perception and psychosexual development, making timely intervention important to prevent aesthetic and functional sequelae. We present two pediatric patients with vulvar hematoma who underwent successful surgical treatment following careful evaluation of both physical and psychological factors. This report emphasizes the importance of a comprehensive, multifaceted approach to the management of pediatric vulvar hematomas.

Background: One-lung ventilation (OLV) during thoracic surgery frequently requires approximately 100% oxygen, imposing the risk of hyperoxemia. This study aimed to assess whether oxygen reserve index (ORI)-guided fraction of inspired oxygen (FiO2) adjustment can reduce the incidence of hyperoxemia in children undergoing lung resection. Methods: This prospective, randomized controlled trial enrolled children aged < 7 years scheduled for thoracoscopic lung resection. The participants were randomly assigned to either a conventional group (FiO2 adjusted based on arterial blood gas analysis [ABGA]) or an ORI group (FiO2 titrated to maintain an ORI target of 0.15). ABGA was performed 10 and 30 min after the start of OLV (T1 and T2). The primary outcome was the incidence of hyperoxemia 30 min after OLV (T2). Results: Data from 64 children (31 conventional, 33 ORI groups) were analyzed. The incidence rate of hyperoxemia at T2 was similar between the conventional and ORI groups (54.8% vs. 60.6%, P = 0.801). However, partial pressure of arterial oxygen at T1 was significantly lower in the ORI group than in the conventional group (214.6 ± 65.5 mmHg vs. 268.8 ± 92.7 mmHg, P = 0.014). The ORI group demonstrated a lower time-weighted average FiO2 during OLV (0.79 ± 0.12 vs. 0.87 ± 0.09, P = 0.004). The ORI group required more rescue interventions than the conventional group and experienced fewer episodes of hypoxia. Conclusions ORI-guided FiO2 adjustment does not significantly reduce the incidence of hyperoxemia in children undergoing OLV but reduces time-weighted FiO2 and hypoxic events.

Objectives: This study aimed to develop a NOVA-based scoring approach for evaluating ultra- processed food (UPF) intake among Korean adults and to examine its performance. Previous studies have reported that young adults have the highest levels of UPF consumption. Accordingly, this study focused on adults aged 19–40 years and developed scoring components reflecting dietary patterns specific to Korean eating habits. Methods: Using 24-hour dietary recall data from adults aged 19–40 years in the Korea National Health and Nutrition Examination Survey (2021–2023), foods were classified according to the Korean-adapted NOVA system. The top 10 food groups accounting for ≥ 80% of cumulative UPF-derived energy were selected to construct the scoring components. The tool was operationalized using food frequency questionnaire (FFQ) data from the Gangwon cohort study (2022–2024). Intake frequencies were converted into scores ranging from 0 (“rarely or never”) to 5 (“≥ 1 time/day”), and summed to generate the NOVA–UPF score (range: 0–50). Results: Among 237 young adults (aged 20–49 years), the mean NOVA–UPF score was 22.9 ± 8.3. A positive association was observed between the NOVA–UPF score and FFQbased UPF energy intake (Spearman’s ρ = 0.629, P < 0.001). Cross-classification showed that 51.9% were classified into the same tertile and 94.9% into the same or adjacent tertiles, with a weighted kappa coefficient of 0.279. Conclusion This NOVA-based scoring approach may serve as a preliminary tool for assessing UPF intake in Korean young adults. Further refinement and rigorous validation using quantitative dietary assessment methods and more diverse populations are required before broader application.