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.

Purpose: This study aimed to develop and evaluate the effectiveness of the Trauma-nursing Education and Skill Support (TESS) program based on the ADDIE model (Analysis, Design, Development, Implementation, Evaluation model). The program was designed to enhance trauma nurses’ clinical competencies, including trauma-related knowledge, self-efficacy, and problem-solving ability, through the integration of theoretical education and simulation-based practice. Methods: A quasi-experimental study using a non-equivalent control group pretest–posttest design was conducted. Participants included 108 trauma nurses from regional trauma centers, military trauma centers, and emergency care facilities, who were assigned to an experimental group (n=52) or a control group (n=56). The TESS program consisted of a 2-day, 14-hour blended-learning course that included eight lecture sessions and four simulation-based practice stations. Data were collected at baseline, immediately after the intervention, and at 6 months using validated instruments measuring trauma-related knowledge, self-efficacy, and problem-solving ability. Two-way repeated-measures analysis of variance was used for data analysis. Results: The experimental group demonstrated significant improvements in trauma-related knowledge, self-efficacy, and problem-solving ability compared with baseline (all p<.001). These improvements were sustained at 6 months, although trauma-related knowledge scores showed a slight decline compared with immediate posttest levels. Between-group analyses confirmed significant group-by-time interaction effects for all outcomes: trauma-related knowledge (η2=0.12, p<.001), self-efficacy (η2=0.09, p=.002), and problem-solving ability (η2=0.08, p=.003). Conclusion The TESS program effectively enhanced trauma nurses’ trauma-related knowledge, self-efficacy, and problem-solving ability, with effects sustained for up to 6 months. Incorporating blended learning and simulation-based training into standardized trauma nursing education may strengthen clinical competencies and ultimately contribute to improved patient outcomes.

Background: Rosacea is a chronic inflammatory disorder characterized by flushing, erythema, papules/pustules, and telangiectasia. Several clinical studies have investigated the efficacy of botulinum neurotoxin A (BoNT/A) in the treatment of rosacea, but its mechanism of action remains unclear. Objective: This study aims to examine the potential role of BoNT/A in a mouse model of rosacea-like skin lesions induced by the 37-amino acid C-terminal cathelicidin peptide (LL-37). Methods: Mice were randomly divided into 4 groups: Control, LL-37, LL-37 + BoNT/A, and LL-37 + dexamethasone. Results: BoNT/A treatment alleviated skin damage, reduced skin thickness, and decreased mast cell infiltration. Furthermore, BoNT/A improved redness score severity and redness area while enhancing skin barrier function by suppressing transepidermal water loss and increasing skin hydration. At the molecular level, BoNT/A decreased the mRNA levels of interleukin (IL)-6 and tumor necrosis factor-α, which are known as pro-inflammatory cytokines. It also downregulated the expression of pyrin domain-containing protein 3, caspase-1, and IL-1 beta in the LL-37-injected dorsal skin. Furthermore, BoNT/A prevented LL-37-mediated upregulation of neurovascular-associated factors, including CD31, transient receptor potential vanilloid 1, calcitonin-related polypeptide alpha, vascular endothelial growth factor, chymase 1, and tryptase alpha/beta 1. Conclusion These results indicate that BoNT/A effectively alleviates inflammatory and vascular responses in a rosacea mouse model, highlighting its potential as a promising preventive approach for rosacea.

Purpose: The aim of this study is to compare the detection ability of quality of life (QoL) changes and responsiveness of the KOrean QUality of life in Stomach cancer patients Study group (KOQUSS)-40 and European Organization for Research and Treatment of Cancer Quality of Life Questionnaire (EORTC QLQ). Materials and Methods: A multicenter prospective observational study was conducted to evaluate QoL changes after various gastrectomies between January 2021 and April 2022. Participants were instructed to complete the KOQUSS-40 and EORTC QLQ-C30/STO22 preoperatively and at 1, 3, 6, and 12 months postoperatively. QoL changes over time and QoL responsiveness were assessed for each questionnaire. Results: Data from 491 patients who underwent curative gastrectomy for gastric cancer at 22 institutions were analyzed. The summary scores of the KOQUSS-40 and EORTC QLQ-STO22 showed significant differences between the total and proximal gastrectomy groups (p=0.044 and p=0.038, respectively), but no difference was observed for the EORTC QLQ-C30. Dysphagia on the KOQUSS-40 was significantly different between the total and proximal gastrectomy groups (p=0.031); however, dysphagia on the EORTC QLQ-STO22 did not differ. The responsiveness of the KOQUSS-40 was similar to that of the EORTC QLQ in patients who experienced ≥ 10% body weight loss, but approximately 10% less in patients receiving adjuvant chemotherapy than the EORTC QLQ. Conclusion KOQUSS-40 has several advantages over EORTC QLQ-C30/STO22 when comparing QoL between the total and proximal gastrectomy groups. The findings provide information for researchers investigating the QoL of patients who have undergone curative gastrectomy for gastric cancer.

Limited data exist regarding the real-world practices and clinical outcomes in patients with ischemic heart failure with reduced left ventricular ejection fractions (LVEFs).Using nationwide registry data from South Korea, we aimed to investigate long-term outcomes and clinical practices, especially implantable cardioverter defibrillators (ICDs) implantation, in patients with reduced LVEFs at least 40 days after acute myocardial infarction (AMI). Of 13,056 patients with AMI between 2011 and 2015, we analyzed 350 (median age, 66 years [interquartile range, 56-75]) who had LVEFs <40% on follow-up transthoracic echocardiogram 40 days after the index event. The primary outcome was cardiac-cause mortality at 3 years. Secondary outcomes comprised major cardiovascular events as well as outcomes defined by the use of ICDs, cardiac resynchronization therapy defibrillators (CRT-Ds), and electrophysiology studies. Among 350 patients, 39 (11.1%) died from cardiac causes during 3 years of follow-up. Eleven (3.1%) were hospitalized for ventricular tachycardia. The rate of ICD or CRT-D implantation up to 3 years was 5.7% (20/350). Cox time-to-event analysis revealed older age, LVEF <30%, diabetes mellitus, and previous MI or revascularization as positively associated with cardiac death, whereas the use of statins and body weight <67 kg were negatively associated. This nationwide Korean registry demonstrated that only 5.7% of patients who had reduced LVEFs after 40 days of AMI underwent ICD implantations over 3 years. Considering the high mortality, concerted efforts are needed to improve clinical outcomes for patients who may have been candidates for ICD implantation.

Background: Catecholamines play a crucial role in muscle biogenesis, but their persistent elevation is linked to muscle wasting, which is poorly understood. This study aimed to investigate the association between catecholamine levels and age-related muscle loss. Methods: This retrospective study evaluated the plasma levels of two catecholamines, metanephrine and normetanephrine, and the clinical characteristics of 830 patients with adrenal incidentaloma on computed tomography (CT). Cross-sectional CT data at the L3 lumbar vertebrae were used to measure muscle areas. In vitro studies on C2C12 myotubes were conducted to examine β-adrenergic receptor signaling pathways and their role in myogenesis. Results: Men had significantly higher mean metanephrine levels of 0.17 nmol/L and normetanephrine levels of 0.63 nmol/L than women (P<0.05). Total abdominal muscle area was negatively correlated with catecholamine levels in both men and women, with the strongest negative correlation between normetanephrine levels and total abdominal muscle area in men (r=–0.31, P<0.001). Similarly, the strongest negative correlation between visceral fat area and metanephrine was observed in men (r=–0.25, P=0.004). Clenbuterol, a β-adrenergic receptor agonist, inhibited myogenesis, including myotube formation by extracellular signal-regulated kinase (ERK) suppression in C2C12 myoblasts. Conversely, β-blockers increased myogenesis via increasing ERK phosphorylation in C2C12 cells. These findings suggest that β-adrenergic modulation influences skeletal muscle differentiation, with ERK phosphorylation. Conclusion Catecholamine levels are associated with age, sex, muscle mass, and fat mass. Monitoring catecholamine levels, particularly in older men and in individuals with reduced muscle mass, may help manage age-related muscle loss and lead to individualized treatment strategies.

Objective: This study aimed to evaluate the survival of removable partial dentures (RPDs) abutment teeth that had undergone root canal treatment (RCT) and to identify the factors influencing survival. Materials and Methods: Records from the Veterans Health Service Medical Center were reviewed to identify patients who received RPDs between 2014 and 2015 and had root canal-treated abutment teeth. Preoperative variables included patient demographics, tooth location, and periapical radiolucency, while postoperative variables included RPD classification, opposing dentition, crown-root ratio (CRR), root canal filling quality, post placement, and restoration type. Statistical analysis was performed using the Kaplan-Meier method and Cox proportional hazards models. Results: A total of 776 root canal-treated abutment teeth from 341 patients using RPDs (mean age, 72.03 years) were included. In the multivariate analysis, tooth-related conditions such as arch type and tooth location, presence of a periapical lesion, and presence of a core were significantly associated with poor prognosis. Kaplan-Meier survival analysis revealed that the 3-, 5-, 7-, and 10-year survival rates for all teeth were 93.5%, 84.4%, 77.1%, and 60.0%, respectively. Conclusion Arch type and tooth position, preoperative periapical radiolucency, and type of restoration are significantly associated with prognosis in patients with RPDs in whom the abutment teeth have previously undergone RCT.

Background: and Purpose: This clinical practice guideline provides evidence-based recommendations for treatment of dementia, focusing on cholinesterase inhibitors and N-methyl-D-aspartate (NMDA) receptor antagonists for Alzheimer’s disease (AD) and other types of dementia. Methods: Using the Population, Intervention, Comparison, Outcomes (PICO) framework, we developed key clinical questions and conducted systematic literature reviews. A multidisciplinary panel of experts, organized by the Korean Dementia Association, evaluated randomized controlled trials and observational studies. Recommendations were graded for evidence quality and strength using Grading of Recommendations, Assessment, Development, and Evaluation (GRADE) methodology. Results: Three main recommendations are presented: (1) For AD, cholinesterase inhibitors (donepezil, rivastigmine, galantamine) are strongly recommended for improving cognition and daily function based on moderate evidence; (2) Cholinesterase inhibitors are conditionally recommended for vascular dementia and Parkinson’s disease dementia, with a strong recommendation for Lewy body dementia; (3) For moderate to severe AD, NMDA receptor antagonist (memantine) is strongly recommended, demonstrating significant cognitive and functional improvements. Both drug classes showed favorable safety profiles with manageable side effects. Conclusions This guideline offers standardized, evidence-based pharmacologic recommendations for dementia management, with specific guidance on cholinesterase inhibitors and NMDA receptor antagonists. It aims to support clinical decision-making and improve patient outcomes in dementia care. Further updates will address emerging treatments, including amyloid-targeting therapies, to reflect advances in dementia management.

Background: Atopic dermatitis (AD) is a common skin disease with a wide range of symptoms. Due to the rapidly changing treatment landscape, regular updates to clinical guidelines are needed. Objective: This study aimed to update the guidelines for the treatment of AD to reflect recent therapeutic advances and evidence-based recommendations. Methods: The Patient characteristics, type of Intervention, Control, and Outcome framework was used to determine 48 questions related to AD management. Evidence was graded, recommendations were determined, and, after 2 voting rounds among the Korean Atopic Dermatitis Association (KADA) council members, consensus was achieved. Results: This guideline provides treatment guidance on advanced systemic treatment modalities for AD. In particular, the guideline offers up-to-date treatment recommendations for biologics and Janus-kinase inhibitors used in the treatment of patients with moderate to severe AD.It also provides guidance on other therapies for AD, along with tailored recommendations for children, adolescents, the elderly, and pregnant or breastfeeding women. Conclusion KADA’s updated AD treatment guidelines incorporate the latest evidence and expert opinion to provide a comprehensive approach to AD treatment. The guidelines will help clinicians optimize patient-specific therapies.