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.

Objective: To compare two breast cancer screening strategies, digital mammography (DM) plus radiologist-interpreted automated breast ultrasound (ABUS) and DM plus selective ABUS review, in which only examinations positive for DM or flagged by ABUS artificial intelligence–computer-aided diagnosis (AI-CAD) were reviewed by radiologists. Materials and Methods: This retrospective study included asymptomatic women who underwent DM and ABUS screening for breast cancer between March 2022 and March 2023. The radiologists’ interpretations of DM and ABUS without AI assistance (DM + ABUS_radiologist) were collected from the clinical radiology reports. A selective DM plus ABUS reading strategy was simulated, in which only cases interpreted as positive in the radiologist’s DM report or flagged by retrospectively applied ABUS AI-CAD were triaged for further evaluation through a full review by radiologists (DM + ABUS_AI-CAD). The cancer detection rate (CDR), sensitivity, specificity, and abnormal interpretation rate (AIR) were calculated and compared between DM + ABUS_ radiologist and DM + ABUS_AI-CAD groups using the McNemar’s test. Results: Among 2,275 women (mean age, 56.1 ± 8.6 years), 12 cancers were diagnosed. The sensitivity, CDR and AIR for DM + ABUS_radiologist was 83.3% (10/12; 95% confidence interval [CI]: 51.6–97.9), 4.4 (10/2,275; 95% CI: 2.1–8.1) per 1,000 screening examinations and 16.7% (379/2,275; 95% CI: 15.1–18.3), respectively. DM + ABUS_AI-CAD triaged 84.0% (1,910/2,275) of the examinations as negative in both DM reports and retrospectively applied ABUS AI-CAD, requiring radiologist reassessment in only 16.0% (365/2,275). This approach reduced the AIR to 7.3% (167/2,275) and improved the specificity from 83.7% (1,894/2,263) to 93.1% (2,107/2,263) (all P < 0.001), while maintaining a CDR of 4.8 per 1,000 and a sensitivity of 91.7% (11/12) (all P > 0.999), compared to the DM + ABUS-radiologist. Conclusion An AI-CAD-assisted selective ABUS reading strategy reduces unnecessary recalls and improves specificity, which may help optimize reading priorities and reduce the reading workload while maintaining cancer detection performance.

Background: and Purpose Although gastrointestinal (GI) surgery can affect drug efficacy, its impact on oral anticoagulants (OACs) remains unclear. This study investigated the impact of GI surgery on the comparative effectiveness and safety of direct oral anticoagulants (DOACs) versus warfarin in atrial fibrillation (AF). Methods: Using a nationwide South Korean claims database, AF patients prescribed OACs between 2015 and 2021 were analyzed. The primary outcome was ischemic stroke, and secondary outcomes were major bleeding, all-cause death, and composite outcome (ischemic stroke, major bleeding, all-cause death). Outcomes were compared by OAC type (DOAC vs. warfarin) and GI surgery status using inverse probability of treatment weighting and a Fine–Gray subdistribution hazard model with time-varying covariates. Results: Among 388,214 AF patients (mean age, 71.9 yr; 42.7% male), 6,907 (1.8%) underwent GI surgery. The effect of GI surgery differed between warfarin and DOACs for ischemic stroke (Pint= 0.018), with increased risk for warfarin (adjusted HR [aHR]: 2.32; 95% confidence interval [CI] 1.17–4.62), but not for DOACs (aHR: 0.97 [95% CI 0.77–1.22]) after surgery. Effects of surgery on major bleeding, all-cause death, and composite outcome did not differ. In post–GI surgery setting, DOACs demonstrated lower ischemic stroke risk (aHR: 0.35 [95% CI 0.17–0.72]) and comparable risks for other outcomes. Exploratory analyses by surgery location suggested a more favorable profile of DOACs after upper GI surgery. Conclusions In AF patients, GI surgery significantly increased ischemic stroke risk among warfarin users, but not among DOAC users. DOACs showed generally favorable profiles after GI surgery and may remain a reasonable anticoagulant, with potentially more favorable profile after upper GI surgery.

Subarachnoid hemorrhage (SAH) is a stroke subtype with high mortality and poor functional outcomes. Prompt occlusion of a ruptured aneurysm at an early stage is crucial to prevent rebleeding, which can result in even higher mortality and more severe disabilities. The most critical initial decision in SAH management is the choice of treatment method with surgical clipping or endovascular coiling. We aimed to develop an evidence-based clinical guideline to select the optimal initial treatment in patients with SAH. We developed this guideline based on evidence from systematic reviews and meta-analyses via a de novo process. A systematic literature review was conducted across four databases (MEDLINE, Embase, Cochrane, and KoreaMed) to answer two population, intervention, comparison, outcome questions comparing clipping and coiling. The risk of bias was assessed using ROB 2.0 and the Newcastle-Ottawa Scale. The Preferred Reporting Items for Systematic Reviews and Meta-Analyses flow diagrams and meta-analyses were generated for functional outcome and mortality. We included six randomized control trials (RCTs) and 58 observational studies. Meta-analysis of RCTs showed that coiling improved functional outcomes compared to clipping (odds ratio [OR], 0.91; 95% confidence interval [CI], 0.86–0.97). No significant mortality difference was observed in RCTs (OR, 1.38; 95% CI, 0.91–2.09), but non-RCTs favored clipping for reduced mortality (OR, 0.77; 95% CI, 0.69–0.86). However, it is difficult to generalize these findings to all clinical situations, as patients with SAH have a highly variable clinical course. Final treatment decision should be tailored to the individual patient’s status, including aneurysm location, morphology, and the expertise available at the treatment center. Such decisions are best made by specialists such as a board-certified physician and should be explained to the patient and their caregivers, along with the rationale for selecting the most appropriate treatment at the given hospital. Korea has many certified endovascular neurosurgeons, cerebrovascular surgeons, and certified cerebrovascular centers. Proper selection of the most suitable treatment method by certified physicians and centers would greatly benefit patient outcomes and healthcare professionals.

Accurate and early identification of stroke and large vessel occlusion (LVO) in emergency settings is essential for improving patient outcomes and ensuring the efficient allocation of medical resources. This clinical practice guideline systematically reviews domestic and international literature and conducts meta-analyses to evaluate the utility and diagnostic accuracy of stroke assessment tools used in prehospital emergency medical services (EMS). We developed a guideline based on evidence from systematic reviews and meta-analyses via a de novo process. A systematic literature review was conducted to evaluate the usefulness of diagnostic EMS assessment tools for diagnosing stroke and LVO. Overall, 70 non-randomized control studies were selected for this study. A meta-analysis was conducted with a subgroup analysis to distinguish between patients with stroke and those with LVO. EMS tools demonstrated high sensitivity but low specificity for diagnosing stroke. In the prehospital setting, using validated EMS stroke assessment tools is recommended for the early identification of stroke and LVO. Upon hospital arrival, stroke specialists should conduct further evaluation and triage to confirm the diagnosis and guide appropriate management. Delays in diagnosing LVO are frequently unacceptable. While experts advocate for the use of EMS assessment tools to facilitate early identification of LVO, these tools alone lack adequate sensitivity. Therefore, further diagnostic evaluations and consultation with stroke specialists upon hospital arrival are recommended.

The mothership (MS) model, where patients are directly transferred to a thrombectomy-capable center, and the drip-and-ship (DS) model, where thrombolysis is initiated at the nearest primary stroke center before transfer for thrombectomy, are the primary transport modes for patients with stroke. We aimed to establish guidelines for selecting the appropriate transfer strategy based on emergent large vessel occlusion (LVO). We developed this guideline based on evidence from systematic reviews and meta-analyses via a de novo process. A systematic literature review was conducted across four databases (MEDLINE, Embase, Cochrane, and KoreaMed) to answer three Population, Intervention, Comparison, and Outcome questions comparing MS and DS models. The risk of bias was assessed using the Newcastle-Ottawa Scale. Preferred Reporting Items for Systematic Reviews and Meta-Analyses flow diagrams and meta-analyses were generated for functional outcomes, mortality, and successful recanalization. Twenty-six non-randomized controlled studies showed that the MS model improved good functional outcomes by approximately 14% compared with the DS model (odds ratio [OR], 1.14; 95% confidence interval [CI], 1.00–1.30). Fifteen studies reported that mortality in the MS and DS models showed no significant differences (OR, 0.97; 95% CI, 0.84–1.11). Twenty-four studies revealed no significant difference in successful recanalization between the MS and DS models (OR, 0.87; 95% CI, 0.68–1.10). The MS model should be considered first to improve the functional outcome of patients with LVO. However, if thrombectomy cannot be performed immediately after thrombolysis, or if a thrombectomy-enabled hospital is not nearby, the DS model should be considered by stroke specialists depending on transportation time and regional factors. We suggest a mixed approach with the DS model based on specific circumstances or regions to ensure the optimum treatment of patients with acute ischemic stroke (AIS). Appropriate transport for patients with LVO improves the prognosis of AIS.

This review examines the challenges associated with occupational disease surveillance in Korea, particularly emphasizing the limitations of current data sources such as the Industrial Accident Compensation Insurance (IACI) statistics and special health examinations. The IACI system undercounts cases due to its emphasis on severe diseases and restrictions on approvals. Special health examinations, although they cover a broad workforce, are constrained by their annual scheduling, which leads to missed acute illnesses and subclinical conditions. The paper also explores the history of occupational disease surveillance in Korea, highlighting the fragmented and disease-specific approach of earlier systems. The authors introduce the newly established Korea Occupational Disease Surveillance Center (KODSC), a comprehensive nationwide system designed to gather, analyze, and interpret data on occupational diseases through a network of regional centers. By incorporating hospital-based surveillance and focusing on acute poisonings and other sentinel events, the KODSC aims to overcome the limitations of previous systems and promote collaboration with various agencies. Although it is still in the early stages of implementation, the KODSC demonstrates potential for improving data accuracy and contributing valuable insights for public health policy.

Atopic dermatitis is the most common chronic inflammatory skin disease in children and adolescents. The Korean Academy of Pediatric Allergy and Respiratory Disease published the Atopic Dermatitis Treatment Guideline in 2008, which has been helpful in atopic dermatitis treatment until now. Various reports on the development and effectiveness of new drugs have suggested that there is a need to develop and revise old treatment guidelines. Part 1 aimed to provide evidence-based recommendations for skin care management and topical treatment for atopic dermatitis. Part 2 focuses on systemic treatment, novel therapeutics, and adjuvant therapy. The goal of this guideline is intended to assist front-line doctors treating pediatric and adolescent atopic dermatitis patients make safer, more effective, and more rational decisions regarding systemic treatment, novel therapeutics, and adjuvant therapy by providing evidence-based recommendations with a clear level of evidence and benefit regarding treatment.

Purpose: This study aimed to develop a no-contact health promotion behavior program for nursing students as representatives of young adults and to evaluate its effects and applicability. Methods: We employed a one-group pretest/posttest design to develop a no-contact health promotion behavior program for young adults and to assess its impacts on post-pandemic health promotion behavior, health self-efficacy, depression, and stress among nursing students. Using an online ad, we recruited young adults aged 19 to 29 living in South Korea who were attending nursing school; those who provided informed consent to participate in the study were enrolled. Results: The no-contact health promotion behavior program was effective at improving health promotion behavior (Z=-2.90, p=.004) and health self-efficacy (Z=-2.24, p=.025) and at alleviating depression (Z=-2.13, p=.033). Conclusion This study confirmed the potential of a no-contact program to advance health management among young adults. It also substantiated the program’s effects on fostering experiences and promoting personal health among nursing students, who are prospective healthcare professionals.

Background: Osteoporosis is a significant public health issue in aging populations. Despite advances in pharmacotherapy, underdiagnosis and undertreatment remain prevalent even in patients with recent fractures. This study examined 20-year trends (2002– 2022) in anti-osteoporotic medication (AOM) usage in South Korea. Methods: Data from the Korean National Health Information Database were retrospectively analyzed. The study included individuals aged ≥50 years and analyzed prescription trends, medication adherence, measured by the medication possession ratio (MPR), and treatment initiation rates post-fracture. The AOMs examined included bisphosphonates, selective estrogen receptor modulators, denosumab (DMAB), teriparatide (TPTD), and romosozumab (ROMO). Results: Over two decades, AOM use has shifted significantly from oral to injectable formulations, with injectables surpassing oral medications in 2020; from 397,440 prescriptions in 2016 to 1,162,779 in 2022. Prescriptions for DMAB surged following its approval as a first-line therapy in 2019, increasing 2.65 times from 217,606 in 2019 to 575,595 in 2022. The MPR improved from 35.4% in 2003 to 73.2% in 2021, with females demonstrating higher adherence than males. Post-fracture treatment rates increased from 31.1% in 2006 to 39.9% in 2021 but remained below 50%. Vertebral fractures had the highest treatment initiation rates, while anabolic agents, such as TPTD and ROMO were underprescribed despite their efficacy. Conclusions This 20-year analysis highlights significant progress in osteoporosis management in South Korea, including a shift towards injectable therapies and improved adherence. However, the persistent undertreatment of high-risk patients underscores the requirement for enhanced access to anabolic agents, clinician education, and policy reforms to optimize post-fracture care.