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.

Autophagy is a conserved catabolic process that degrades proteins and damaged organelles to maintain cellular homeostasis, and its role in cancer depends on stage and context. Farnesyl-diphosphate farnesyltransferase 1 (FDFT1) is an essential enzyme in the sterol branch of the mevalonate pathway, but its functions in hepatocellular carcinoma (HCC) and in the regulation of autophagy remain poorly understood. In this study, we show that FDFT1 acts as a negative regulator of autophagy in HCC cells. Loss of FDFT1 led to increased autophagosome formation and fusion with lysosomes, whereas its overexpression suppressed both basal and induced autophagy. These changes were associated with AMPK–ULK1 signaling, suggesting that FDFT1 influences a central pathway controlling autophagy. Our findings connect cholesterol metabolism with autophagy regulation and tumor growth, highlighting FDFT1 as a potential prognostic marker and therapeutic target in liver cancer.

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 Induced hypertension therapy (IHT) is effective for treating early neurological deterioration (END) in patients with single subcortical infarction (SSI). However, the underlying pathophysiology of SSI is diverse and may affect the efficacy of IHT. Methods: We reviewed patients with SSI who experienced END and received IHT were enrolled. END was defined as ≥2-point increase in the National Institutes of Health Stroke Scale (NIHSS) score, ≥1 motor point increase. IHT was performed by using phenylephrine infusion to raise systolic blood pressure by 10%–20% over baseline. SSI was classified into three subtypes: distal (dSSI), proximal (pSSI), and SSI with parental artery disease (SSIPAD; with stenosis at parental artery disease <50%). Responders were defined as patients who showed neurological improvement (decrease of ≥2 points in NIHSS, ≥1 motor point decrease) within one day after IHT initiation. Multivariable analysis identified factors associated with responders. Results: Characteristics were compared between responders and non-responders, and factors associated with response to IHT were investigated. Among 96 patients (mean age, 64.7± 12.9 years; 61.5% male), 49 (51.0%) patients were categorized as responders. Multivariable analysis showed that pSSI (adjusted odds ratio [aOR]=18.10, 95% confidence interval [CI] 5.04–80.60, p<0.001) and SSIPAD (aOR=4.56, 95% CI 1.31–19.00, p=0.024) were associated with a positive response to IHT compared to dSSI. Additionally, less white matter changes (Fazekas scale 0–1) were associated with a better response to IHT (aOR=0.15, 95% CI 0.03–0.67,p=0.019). Conclusions Response to IHT varied according to SSI subtypes and the severity of small vessel changes.

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.

Purpose: Bronchiolitis obliterans syndrome (BOS) can develop as a manifestation of graft-versus-host disease following allogeneic hematopoietic stem cell transplantation (allo-HSCT), and may ultimately require lung transplantation (LT). However, reports on LT outcomes for BOS after allo-HSCT are limited. This study aimed to compare the outcomes of LT for BOS following allo-HSCT with those for idiopathic pulmonary fibrosis (IPF). Materials and Methods: A total of 487 patients underwent LT between January 2010 and August 2023. Among them, the baseline characteristics and outcomes of 35 patients with BOS following allo-HSCT and 216 patients with IPF were analyzed. Results: The BOS group was younger and had a lower body mass index (BMI) compared to the IPF group (33.7±11.9 years vs.59.7±7.3 years, p<0.001; 17.6±3.7 kg/m2 vs. 22.0±3.6 kg/m2 , p<0.001, respectively). The proportion of male patients was lower in the BOS group than in the IPF group (54.3% vs. 84.3%, p<0.001). Preoperative ventilator support was more common in the BOS group compared to the IPF group (62.9% vs. 32.4%, p=0.001). In Kaplan–Meier survival analysis, the 5-year survival rate was significantly higher in the BOS group than in the IPF group (71.0% vs. 44.9%, p=0.022). In the Cox proportional hazards model, age was the only factor significantly associated with survival [hazard ratio (95% confidence interval): 1.04 (1.02–1.07), p<0.001]. Conclusion The survival rate of the BOS group was not inferior to that of the IPF group after adjusting for sex, age, and BMI. Therefore, LT should be actively considered as a treatment option for patients with BOS following allo-HSCT.

Background: The ongoing medical crisis in Korea has severely impacted the operational environment of intensive care units (ICU), posing significant challenges to quality care for critically ill patients. This study aimed to evaluate the effects of the ongoing crisis on ICUs. Methods: A survey was conducted in July 2024 among intensivists in charge of ICUs at institutions accredited by the Korean Society of Critical Care Medicine for critical care. The survey compared data from January 2024 (pre-crisis) and June 2024 (post-crisis) on the number ICU beds, staffing composition, work hours, and the number and roles of nurse practitioners. Results: Among the total of 71 participating ICUs, 22 experienced a reduction in the number of operational beds, with a median decrease of six beds per unit, totaling 127 beds across these ICUs. The numbers of residents and interns decreased from an average of 2.3 to 0.1 per ICU, and the average weekly working hours of intensivists increased from 62.3 to 78.8 hours. Nurse practitioners helped fill staffing gaps, with their numbers rising from 150 to 242 across ICUs, and their scope of practice expanded accordingly. Conclusions The medical crisis has led to major changes in the critical care system, including staffing shortages, increased workloads, and an expanded role for nurse practitioners. This is a critical moment to foster interest and engage in active discussions aimed at creating a sustainable and resilient ICU system.

Background: The Korean Occupational Stress Scale (KOSS) was developed in 2004. During this time, industrial structures have evolved, and societal awareness of occupational stress has changed. This study aims to develop and validate a revised version of the Korean Occupational Stress Scale (KOSS®19), tailored for workers, reflecting these changes. Methods: The KOSS®19 was developed based on the 26-item KOSS–short form (SF) through a review by eight experts. A survey was conducted including 359 service industry workers, comprising the KOSS®19, Burnout, and Depression scales. The KOSS®19 subscales were restructured, and their reliability and validity were evaluated. Results: The KOSS®19 composed of eight subscales: hazardous physical environment (2 items), high job demand (3 items), insufficient job control (2 items), low social support (2 items), job insecurity (2 items), organizational injustice (4 items), lack of reward (2 items), and work-life imbalance (2 items). The reliability and validity of the KOSS®19 were found to be satisfactory. Conclusions The KOSS®19 is a suitable tool for assessing occupational stress, effectively replacing the original KOSS and KOSS-SF.

Background: Emotional labor refers to the management of emotions and expressions to meet the emotional requirements of a job role. This study aimed to develop a revised version of the Korean Emotional Labor Scale (KELS®11), based on the first edition (KELS-24) introduced in 2014, and to provide practical applications and guidelines for its use in the Korean workplace through a validation process. Methods: The revised version of KELS®11 was derived from the 24-item KELS, following a review process involving eight experts. To validate the scale’s reliability and validity, a self-administered survey was conducted among 359 service industry workers using KELS®11, burnout, and depression scales. KELS®11 was reclassified, and its reliability and validity were evaluated. Receiver operating characteristic curve analysis was conducted to establish sex-specific cutoff values (normal vs. high-risk groups). Results: KELS®11 was designed to account for individual, organizational, and cultural contexts. It consists of four subscales and 11 items: “emotional regulation” (2 items), “emotional dissonance” (3 items), “organizational monitoring” (2 items), and “organizational protective system for emotional labor” (4 items). KELS®11 demonstrated good validity (content validity ratio: 0.84; item convergence/discriminant validity success rates: 100%; correlation with burnout: r = 0.185–0.436, p < 0.01; correlation with depression: r = 0.128–0.339, p < 0.05) and reliability (Cronbach’s alpha: 0.597–0.795). Additionally, sex-specific reference values were established to determine risk groups based on the intensity of emotional labor exposure. Conclusions KELS®11 is a validated and reliable measurement tool designed to assess the intensity and magnitude of emotional labor in the workplace. The revised tool reflects critical considerations in the development of emotional labor measurement scales.

Background: Workplace violence refers to any act or threat of physical violence, verbal abuse, harassment, intimidation, bullying, mobbing, or other aggressive and disruptive behaviors that occur at work. This study aims to develop and validate a revision of the Korean Workplace Violence Scale (KWVS®13), based on the first edition of the Korean Workplace Violence Scale (KWVS-24), and to provide practical applications and guidelines for the Korean workplace environment. Methods: The revised KWVS®13 was developed by restructuring the 24-item KWVS through a review process involving eight experts. To validate the reliability and validity of KWVS®13, a self-administered survey comprising KWVS®13, burnout, and depression scales was conducted among 359 service industry workers. KWVS®13 was reclassified, and its reliability and validity were assessed. Receiver operating characteristic curve analysis was performed to establish sex-specific cutoff values (normal vs. risk) of the scale. Results: KWVS®13 consists of 13 items across four subscales: “psychological and sexual violence from customers” (4 items), “psychological and sexual violence from supervisors or coworkers” (4 items), “physical assault from customers, supervisors, or coworkers” (2 items), and “organizational protective system for workplace violence” (3 items). We found that KWVS®13 shows relatively good validity (content validity ratio for content validity: 0.888; success rate of item convergent and discriminant validity: 100%, and significant correlation coefficient with burnout (r = 0.115–0.83, p < 0.05) and depression (r = 0.098–0.348, p < 0.05) with the exception of Organizational Violence Protection System for Workplace Violence) and reliability (Cronbach’s alpha: 0.827–0.860). The reference values for determining risk groups according to the intensity of exposure to workplace violence are presented separately by sex. Conclusions KWVS®13 is a robust and useful measurement tool to objectively and quantitatively assess the intensity and magnitude of workplace violence. It incorporates important considerations for workplace violence assessment and provides a reliable framework for evaluating workplace violence in various professional settings.