Objectives: In alignment with the World Health Organization’s goal of eliminating hepatitis C, this study assessed the current treatment status and reasons for non-treatment among patients with hepatitis C in Jeonbuk State, Republic of Korea, to inform strategies for improving care engagement. Methods: Among 311 individuals diagnosed with hepatitis C and reported through the NationalNotifiable Infectious Disease Surveillance system between January 2023 and June 2024, 208 patients were surveyed after excluding those who had died or could not be contacted.Statistical analyses included the chi-square test, the Cochran-Armitage test for trend, and logistic regression. Results: Overall, 116 participants (55.8%) reported having received antiviral therapy. Among the 92 untreated individuals, the most common reason for non-treatment was the absence of symptoms (n = 23; 25.0%), followed by the burden of drug costs (n = 21; 22.8%). Conclusion These findings highlight suboptimal treatment uptake and key barriers that may hinder progress toward hepatitis C elimination. Expanding screening and strengthening linkage-to-care strategies, while addressing financial barriers, will be essential to achievingnational elimination targets.

The rapid advancement of genome sequencing has increased the detection of incidental findings (IFs) and secondary findings (SFs), raising complex ethical and practical challenges in both clinical and research settings. This review examines policies, guidelines, and stakeholder perspectives on IF/SF across different jurisdictions, focusing on articles published between 2000 and 2024. We found significant variation in IF/SF reporting practices, reflecting different healthcare systems and ethical frameworks. While the American College of Medical Genetics and Genomics supports proactive SF reporting, European and Canadian policies adopt more conservative approaches. Stakeholder perspectives also varied; patients generally preferred receiving results, whereas healthcare professionals’ support depended on factors including actionability and patient age. Particular challenges emerged in relation to pediatric cases, with ongoing debates about balancing future autonomy with potential medical benefits. Implementation barriers were identified across jurisdictions, including resource constraints, knowledge limitations, and a lack of standardized procedures. Despite consensus on the potential value of IF/SF reporting, inconsistencies in approaches and implementation challenges persist. Current evidence suggests the need for more sophisticated, context-sensitive frameworks that can accommodate different healthcare systems while maintaining consistent ethical standards. Further research is required to understand the long-term effects of different reporting approaches on patients, healthcare systems, and society.

Background: Transthyretin amyloidosis, a protein-misfolding disorder characterized by systemic amyloid deposition, can be classified as wild-type transthyretin amyloidosis (ATTRwt) or hereditary transthyretin amyloidosis (ATTRv), depending on the presence of transthyretin (TTR) gene variants. We examined the genetic distribution of TTR variants in Korean patients diagnosed with ATTRv. Methods: We retrospectively reviewed 801 participants who underwent TTR analysis at Samsung Medical Center from 2012 to 2024. The participants were categorized into two groups: in-house probands or relatives, and externally referred probands or relatives. Results: Pathogenic or likely pathogenic TTR variants were detected in 36 of 165 in-house probands (21.8%), among which D38A was the most frequent variant (50.0%; 18/36), followed by M13dup and E89K (8.3% each). Among referred probands, D38A was predominant (54.5%; 12/22), followed by M13dup (22.7%; 5/22). Cardiac amyloid involvement was the most common manifestation, observed in 97.2% (35/36) of in-house probands with ATTRv, followed by peripheral nervous system (PNS; 94.4%) and autonomic nervous system (ANS; 88.9%) involvement. In contrast, ANS involvement was most prevalent among in-house relatives who underwent organ evaluation (61.5%; 24/39), followed by cardiac (52.1%; 25/48) and PNS (48.7%; 19/39) involvement. Five of the eight in-house relatives harboring M13dup (62.5%) showed organ involvement, primarily in the ANS, supporting the pathogenicity of this variant. Conclusions This study provides the largest single-institution dataset of Korean patients with ATTRv, incorporating systematic organ assessments. The predominance of the unique TTR variants D38A and M13dup delineates a distinct genetic landscape that may facilitate accurate and timely diagnosis of ATTRv in the Korean population.

Background: Fusion genes are major drivers of acute leukemia. Conventional diagnostics are limited in detecting the diverse fusions included in recently updated acute leukemia classifications. We evaluated the fusion detection performance of RNA sequencing (RNAseq) compared with that of conventional diagnostics in patients with acute leukemia. Methods: We retrospectively obtained the data of 101 patients with acute leukemia who underwent conventional diagnostics (i.e., karyotyping, FISH, or multiplex reverse transcription PCR) at diagnosis at Samsung Medical Center, Seoul, Korea, between September 2022 and September 2023. Whole RNA-seq was performed using the Illumina Stranded mRNA Prep kit (Illumina, San Diego, CA, USA). The concordance, sensitivity, and specificity of RNA-seq for fusion gene detection were compared with those of conventional diagnostics. Results: RNA-seq helped identify 52 fusion genes in 51 (50.5%) of 101 patients, with detection rates of 40.7%, 70.3%, 37.5%, and 50% in acute myeloid leukemia, B-cell acute lymphoblastic leukemia, T-cell acute lymphoblastic leukemia, and mixed-phenotype acute leukemia, respectively. RNA-seq showed 83.3% sensitivity and 80.8% concordance with conventional diagnostics; it missed eight fusions, likely because of low transcript abundance or enhancer hijacking. RNA-seq also helped clarify three previously unspecified rearrangements and detected 12 fusions (21.4%) in 56 cases that tested negative with conventional diagnostics, including four novel (KMT2A::THAP12 , RUNX1::PRPF19 , MLLT10::UBE2L6, and FUS::ZNF362) and three rare (HNRNPH1::ERG, RUNX1::USP42, and ETV6::NCOA2) fusions. Conclusions This was the first study to evaluate the performance of whole RNA-seq in fusion detection in patients with acute leukemia in Korea. Incorporating RNA-seq into diagnostic workflows may facilitate earlier and more precise therapeutic decisions and improve prognostic assessment in patients with acute leukemia.

Purpose: Early differentiation between transient congenital hypothyroidism (TCH) and permanent congenital hypothyroidism (PCH) is crucial for optimizing the duration of treatment. This retrospective cohort study aimed to evaluate whether levothyroxine (LT4) dose requirements over time can predict TCH and guide earlier discontinuation of treatment. Methods: We retrospectively analyzed 105 infants with congenital hypothyroidism and normal thyroid glands confirmed by imaging at a single tertiary care center (Inha University Hospital) between January 2013 and December 2022. Patients were classified into TCH (n=70) or PCH (n=35) based on thyroid function after LT4 withdrawal at 3 years of age. LT4 dose/kg at 6, 12, and 24 months, along with clinical and biochemical parameters, were compared between the 2 groups. Receiver operating characteristic (ROC) curve analysis was used to assess the predictive performance of LT4 dose thresholds. Results: The LT4 dose was significantly lower in the TCH group at 6 (3.16±0.83 μg/kg vs. 3.75±0.99 μg/kg, P=0.005), 12 (2.51±0.82 μg/kg vs. 3.37±1.17 μg/kg, P<0.001), and 24 months (2.02±0.61 μg/kg vs. 3.09±1.19 μg/kg, P<0.001). ROC curve analysis showed an area under the curve (AUC) of 0.649, 0.746, and 0.794 at 6, 12, and 24 months, respectively. A logistic regression model incorporating LT4 dose, birth weight, and thyroid-stimulating hormone (TSH) levels improved prediction accuracy (AUC: 0.740, 0.782, 0.833 at 6, 12, and 24 months, respectively). Conclusion LT4 dose requirements at 6, 12, and 24 months serve as useful indicators for differentiating TCH from PCH. A combined predictive model incorporating LT4 dose, birth weight, and TSH levels may improve diagnostic accuracy, supporting earlier discontinuation of treatment.

Purpose: This study examined the levels of end-of-life care preparedness, importance, performance, and educational needs among community-based home care workers and identified factors influencing end-of-life care performance to inform hospice/end-of-life care education programs. Methods: This study used a descriptive, correlational design. The participants were 152 community-based home care workers with at least 6 months of work experience. Data were collected using structured questionnaires that assessed end-of-life care preparedness, importance, performance, and educational needs. Data were analyzed using descriptive statistics, correlation analysis, importance-performance analysis (IPA), and hierarchical multiple regression analysis using SPSS version 29.0. Results: Overall, end-oflife care performance was significantly lower than its perceived importance (t=14.41, P＜ 0.001), with the largest gaps observed in the caregiving support and emotional support domains. In the IPA, multiple items related to death preparation for patients/families, spiritual/ emotional support, and care around the time of death fell into the low-importance/lowperformance quadrant. Educational needs positively correlated with importance, intention,confidence, preparedness, and performance. In hierarchical regression, preparedness (β =0.21, P=0.03) and importance (β=0.26, P＜0.001) significantly predicted performance, explaining 15% of variance. Conclusion End-of-life care performance among home care workers was influenced by psychological factors, including preparedness, importance, and confidence in end-of-life care, as well as institutional and environmental factors. Standardized educational programs and organizational support are required to improve the quality of community-based end-of-life care.

Purpose: This study aimed to identify the factors influencing end-of-life care performance among community-based care workers prior to the implementation of the Integrated Care Support Act in South Korea. Methods: A cross-sectional survey was conducted among 153 community care workers who provided home-based services. Data were collected using structured questionnaires that assessed perceptions of a good death, attitudes toward end-of-life care, end-of-life care stress, and end-of-life care performance. Data analysis included descriptive statistics, independent t tests, Pearson correlation coefficients, and hierarchical multiple regression using SPSS version 29.0. Results: End-of-life care performance demonstrated a significant positive correlation with end-of-life care stress (r=0.43,P＜0.001). Hierarchical regression analysis identified end-of-life care stress (β=0.32, P＜ 0.001), gender (female; β=–0.20, P=0.01), and intention to participate in end-of-life care education (β=–0.20, P=0.01) as significant predictors. The final model explained 25%of the variance in end-of-life care performance. Conclusion End-of-life care stress was the strongest predictor of performance among community-based care workers, along with gender and intention to participate in end-of-life care education. These findings suggest that, when appropriately managed and supported, end-of-life care stress may function as a motivating factor rather than solely a burden. Therefore, structured education and emotional support interventions—such as debriefing and peer-based supervision—are recommended. Additionally, the implementation of the Integrated Care Support Act should be accompanied by institutional systems that facilitate effective end-of-life care practices.