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: The 2020 European Society of Cardiology (ESC) 0-hr/1-hr algorithm using high-sensitivity cardiac troponin I (hs-cTnI) for non-ST-segment elevation acute coronary syndrome (NSTE-ACS) aims at early diagnosis and shorter emergency department (ED) stays. While this algorithm has been well-established in controlled studies, real-world implementation remains challenging. We evaluated the algorithm’s clinical performance and risk stratification capability in patients with chest pain or discomfort. Methods: We measured hs-cTnI in 4,678 patients suspected of NSTE-ACS between August 2022 and July 2023, using an Atellica IM Analyzer (Siemens Healthineers, Erlangen, Germany). We categorized patients into rule-in, observe, or rule-out groups according to the algorithm and assessed its diagnostic performance for NSTE-ACS. The final diagnosis of NSTE-ACS was adjudicated by two independent physicians. Additionally, we evaluated 30-day all-cause mortality, hazard risk, and ED length of stay across the three groups. Results: The algorithm categorized 3,408 (72.9%), 573 (12.2%), and 697 (14.9%) patients into the rule-out, observe, and rule-in groups, respectively. Among 90 patients diagnosed as having NSTE-ACS, none were falsely categorized into the rule-out group. Survival analysis revealed significant differences (P < 0.001), with Cox hazard ratios of 2.38 (95% confidence interval: 1.20–4.71) and 6.39 (3.45–11.86) in the observe and rule-in groups, respectively. ED stays shortened in the order of rule-out, observe, and rule-in groups (P < 0.001). Conclusions The 2020 ESC 0-hr/1-hr algorithm demonstrates excellent diagnostic accuracy without false rule-outs and effective risk stratification, and contributes to efficient ED throughput, supporting its clinical utility in real-world emergency settings.

The South Korean healthcare system has achieved rapid quantitative growth; however, it continues to face critical challenges in ensuring the fundamental right to health of its citizens. From the perspective of healthcare consumers and civil society, this article identifies structural problems such as imbalances in medical accessibility, instability in essential and emergency care, and the limited participation of consumers in healthcare policy-making. Although the constitution stipulates the state’s responsibility to protect public health, current healthcare policies often prioritize administrative efficiency and provider-centered interests over patient experiences and health outcomes. In particular, this article argues that these challenges are closely related to the inadequate functioning of an accountable healthcare management framework. Structural failures in essential care, workforce shortages, and regional disparities are insufficiently monitored and addressed at the system level, resulting in responsibilities being blurred or shifted to individual healthcare providers. Consequently, the risks and burdens arising from systemic weaknesses are ultimately borne by citizens. To address these issues, this article emphasizes two major shifts. First, meaningful consumer participation must be institutionalized within healthcare governance to strengthen accountability, transparency, and responsiveness. Second, family medicine and primary care should be reinforced as the cornerstone of a sustainable, community-based healthcare system that ensures continuity of care, prevention, and chronic disease management. Re-establishing the healthcare system based on the right to health is not merely a technical adjustment, but a structural transformation toward a responsible and accountable system in which the state clearly assumes responsibility for monitoring, learning, and corrective action.

While South Korea’s National Health Insurance (NHI) was once disparaged as a rudimentary “discount program,” it has matured into the cornerstone of the nation’s medical safety net owing to sustained governmental initiatives. Nevertheless, the pursuit of expanded benefit coverage, exacerbated by demographic shifts toward low fertility and an aging society, has catalyzed a rapid escalation in aggregate national healthcare spending.Consequently, there is an urgent need for the NHI to implement benefit expansion policies that prioritize cost-efficiency and fiscal prudence. This perspective asserts that coverage enhancement should be strategically focused on high-cost catastrophic illnesses, specifically through the robust fortification of the annual out-of-pocket (OOP) maximum system. Furthermore, the reform of private health insurance is imperative, as its unbridled growth in non-reimbursable services has undermined the efficacy of public coverage efforts. This paper proposes concrete policy frameworks for both the enhancement of the OOP maximum system and the structural reform of private indemnity health insurance.

BACKGROUND/OBJECTIVES: Postpartum bone metabolism undergoes substantial alterations based on breastfeeding status. Research on maternal calcium intake and bone recovery, particularly among Asian women, remains limited. This study investigated postpartum change in bone mineral density (BMD) and its association with calcium intake during late pregnancy and post-delivery according to breastfeeding status. SUBJECTS/METHODS: Thirty-six women (22 breastfeeding, 14 non-breastfeeding) underwent dual-energy X-ray absorptiometry 3 times: 1) within 3 days of delivery, 2) at 6 mon postpartum for non-breastfeeding women or within 1 mon of weaning for breastfeeding women, and 3) at 12 mon postpartum. Dietary calcium intake was evaluated using a food frequency questionnaire and dietary supplement survey at all visits. Association between calcium intake with percentage change in BMD (%ΔBMD) was assessed by linear regression. RESULTS: The BMD at the lumbar spine, total hip, femoral neck, and trochanter significantly decreased during breastfeeding, whereas non-breastfeeding women displayed increased BMD at the femoral neck at 6 mon postpartum. In non-breastfeeding women, postpartum calcium intake was positively associated with %ΔBMD at the total hip, femoral neck, and intertrochanter (P < 0.05). Few significant associations were observed between %ΔBMD and late pregnancy intakes across all women, regardless of breastfeeding status. At 12 mon, BMD in breastfeeding women recovered to delivery levels, while non-breastfeeding women maintained their BMD observed at 6 mon postpartum. CONCLUSION Postpartum calcium intake is positively associated with bone recovery in non-breastfeeding women, suggesting that its effects on bone recovery potentially vary with lactation status.

BACKGROUND/OBJECTIVES: Obesity is a complex metabolic disorder characterized by excessive adipose tissue accumulation, dysregulated lipid metabolism, and insulin resistance, leading to an increased risk of metabolic disease. While Withania somnifera (AS) and Chrysanthemum zawadskii Herbich var. latilobum (Maxim.) Kitamura (C) have traditionally been used for their metabolic regulatory properties, their combined effects on adipogenesis, lipogenesis, lipolysis, and insulin signaling remain unexplored. Therefore, this study aimed to evaluate the anti-obesity effects of AS, C, and their optimal combination (ASC) in 3T3-L1 adipocytes by investigating their impact on lipid metabolism and glucose homeostasis.MATERIALS/METHODS: Following adipogenic differentiation, 3T3-L1 adipocytes were treated with AS, C, and ASC at different concentrations. RESULTS: AS, C, and ASC significantly inhibited adipogenesis by downregulating cyclic adenosine monophosphate (cAMP) response element-binding protein, peroxisome proliferator-activated receptor gamma, CCAAT/enhancer-binding proteins alpha and beta phosphorylation, thereby reducing lipid accumulation in adipocytes. They also suppressed lipogenesis by downregulating the expression of dephosphorylated acetyl-CoA carboxylase, fatty acid synthase, and lipoprotein lipase. In contrast, they markedly enhanced lipolysis, as evidenced by increased hormone-sensitive lipase and protein kinase A expression, along with elevated glycerol release and cAMP levels. Furthermore, AS, C, and ASC activated energy metabolism pathways, as indicated by the upregulation of AMP-activated protein kinase, uncoupling protein 1, and carnitine palmitoyltransferase 1A, suggesting a transition toward enhanced mitochondrial fatty acid oxidation. Notably, AS, C, and ASC significantly improved insulin signaling by restoring insulin receptor substrate 1, phosphoinositide 3-kinase, and Akt phosphorylation, while upregulating glucose transporter type 4 expression, indicating enhanced glucose uptake. Among all treatments, ASC showed relatively greater efficacy compared to AS or C alone, suggesting a potential additive effect. CONCLUSION These findings demonstrate that ASC effectively modulates multiple metabolic pathways in adipocytes, including adipogenesis, lipogenesis, lipolysis, energy metabolism, and insulin signaling, to exert its anti-obesity effects.

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.

Purpose: This study aimed to report the real-world outcomes of intravesical gemcitabine for bacillus Calmette–Guérin (BCG)–unresponsive, high-risk, non–muscle-invasive bladder cancer (HR-NMIBC) in Korean patients who were unable or unwilling to undergo radical cystectomy (RC). Materials and Methods: This retrospective study included 131 patients (median age, 69 years; 88.5% men) treated with intravesical gemcitabine for BCG-unresponsive HR-NMIBC at nine centers between May 2019 and April 2022. The primary endpoint was 1-year recurrence-free survival (RFS). The secondary endpoints included factors influencing RFS, progression-free survival (PFS), cystectomy- free survival, cancer-specific survival (CSS), overall survival (OS), and safety. Survival analysis was performed using the Kaplan-Meier method, and risk factors for recurrence were assessed using Cox regression models. Results: Patients were followed up for a median duration of 25 months, with carcinoma in situ (CIS) in 41.9% of the patients. The 1-year and 2-year RFS rates were 68% and 42%, while the 1-year and 2-year PFS rates were 87% and 77%, respectively. No significant factors influencing RFS were identified. Seventeen patients underwent RC during a median follow-up of 16 months, with the condition in three patients progressing to muscle-invasive disease on final pathological analysis. The 2-year CSS and OS rates were 98% and 97%, respectively. Intravesical gemcitabine was well-tolerated, with only seven patients (5.3%) unable to complete the full induction course. Conclusion Our research highlights the potential of intravesical gemcitabine as a viable bladder-sparing treatment option for BCG-unresponsive HR-NMIBC, providing real-world evidence on its safety, efficacy, and tolerability.

Background: and Purpose Intraoperative visual evoked potential (VEP) monitoring has been studied mainly in pituitary adenoma, while its role in nonpituitary suprasellar tumors has remained unclear. This study evaluated the predictive usefulness of intraoperative VEP monitoring during endoscopic endonasal surgery (EES) and aimed to identify optimal alarm criteria for visual outcomes. Methods: We retrospectively analyzed a cohort of 87 patients who underwent EES with intraoperative VEP monitoring between April 2021 and September 2023. Visual outcomes were evaluated preoperatively and at short-term (≤3 months) and long-term (12 months) followups, with visual deterioration at these time points defined as worsening of either visual acuity or the visual field. Reductions in the VEP amplitude were quantified using both the maximum intraoperative decrease and the final amplitude after recovery. Receiver operating characteristic (ROC) curve analyses were performed to identify the optimal alarm thresholds, and the sensitivity, specificity, positive predictive value, and negative predictive value were calculated for short-term and long-term visual deteriorations. Results: Short-term and long-term visual deteriorations were detected in 12 (9.2%) and 5 (3.8%) of the 130 analyzed eyes, respectively. ROC curve analyses identified ≥40% and ≥30% reductions in the N75–P100 amplitude as optimal alarm criteria for short-term and long-term visual deteriorations, respectively. A 30% reduction without intraoperative recovery demonstrated markedly higher sensitivity than the conventional 50% alarm threshold for short-term (58.3% vs. 33.3%) and long-term (80.0% vs. 20.0%) outcomes, while maintaining acceptable specificity (82.2% and 80.8%, respectively). Conclusions A 30% reduction in amplitude represents a more-sensitive and clinically relevant alarm threshold than a 50% reduction for intraoperative VEP monitoring during EES for nonpituitary suprasellar tumors. Incorporating both the magnitude and recovery pattern of VEP amplitude changes may improve the accuracy of predictions of long-term visual deterioration. However, the potential for false positives warrants cautious interpretation, and further studies are needed to validate the impact of intraoperative VEP monitoring on visual outcomes.