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.

Lomentospora prolificans is a rare opportunistic mold with high intrinsic resistance to most antifungal agents. It causes disseminated infections in immunocompromised patients and localized infections in immunocompetent hosts, often involving the bones, joints, or skin. However, prosthetic joint infections (PJI) due to L. prolificans have not been previously reported.Here, we describe the first case of L. prolificans PJI in an immunocompetent 51-year-old male patients, who had no significant comorbidities other than hypertension. The patient presented with right knee pain and swelling one year after total knee arthroplasty. Cultures of the joint fluid and periprosthetic tissue yielded L. prolificans, as confirmed by matrix-assisted laser desorption ionization–time-of-flight mass spectrometry (MALDI-TOF MS) and rRNA gene sequencing. Susceptibility testing showed high minimum inhibitory concentrations for most currently available antifungal agents, including azoles, amphotericin B, echinocandins, and terbinafine. Despite prosthesis removal, multiple surgical debridements, and prolonged antifungal therapy, including voriconazole and terbinafine, the infection persisted over a five-year period.Amputation was discussed as a potential curative measure; however, no consensus has been reached due to its long-term impact. This case highlights the clinical challenges of managing L. prolificans PJI and underscores the need for novel antifungal therapies to treat rare drugresistant fungal infections.

Purpose: This paper aimed to investigate the levels and predictors of moral distress, compassion fatigue, and compassion satisfaction among nurses caring for patients with cancer and to identify predictors for the variables. Methods: A cross-sectional, descriptive correlational study was conducted on 245 nurses from hospitals in South Korea. Data was collected through online surveys from May to June 2025. Variables were measured using the Korean version of the Moral Distress Scale-Revised and the Professional Quality of Life Scale-5. Data were analyzed using a t-test, ANOVA, Pearson’s correlation, and multiple regression analysis. Results: Nurses reported moderate-to-high levels of moral distress, compassion fatigue, and compassion satisfaction, with religious affiliation predicting lower moral distress. Nurses with 3~5 years of experience caring for cancer patients exhibited lower moral distress than those with less than 3 years of experience. Employment in tertiary hospitals and the availability of support programs were predictors of lower moral distress, while caring for cancer patients throughout one’s career predicted higher moral distress. Advanced practice nurses, nurses providing advanced clinical support, and nurses who had completed self-care education were predictors of greater compassion fatigue. In contrast, religious affiliation, having more than five years of nursing experience, and possession of additional oncology nursing certifications significantly explained the variance in compassion satisfaction among nurses. Conclusion Moral distress, compassion fatigue, and compassion satisfaction varied by nurses’ personal and professional characteristics. Multilevel interventions, including structured self-care education and institutional support systems, are needed to alleviate emotional burden and promote professional well-being among oncology nurses.

The impact of age on the relationship between body mass index (BMI) and all-cause mortality in hemodialysis (HD) patients is not clearly understood. Using data from the Korean Renal Data System (2001–2022), we analyzed 66,129 HD patients, stratified into young (<65 years, n = 24,589), younger-old (65–74 years, n = 17,732), and older-old (≥75 years, n = 23,808) groups. Patients were categorized into BMI quartiles, and survival outcomes were evaluated using Kaplan-Meier curves and event time ratios for the relative change in the survival time. During the follow-up period, 14,360 of the patients (21.7%) died, with a median follow-up of 3.4 years. Kaplan-Meier curves revealed poorer outcomes in lower BMI quartiles across all age groups. The lowest BMI quartile was significantly associated with a shorter survival time compared to the highest BMI quartile, with a 15% reduction in the young group (p = 0.001) and a 12% reduction in the older-old group (p = 0.002). Predicted survival time increases with rising BMI in the young group, but the rate of increase slows in the younger-old group and plateaus in the older-old group after a BMI of 25 kg/m2. Lower BMI correlates with higher mortality, particularly in younger HD patients.

Purpose: GC1118 is a novel antibody targeting epidermal growth factor receptor (EGFR) with enhanced blocking activity against both low- and high-affinity EGFR ligands. A phase 1b/2a study was conducted to determine a recommended phase 2 dose (RP2D) of GC1118 in combination with 5-fluorouracil, leucovorin, and irinotecan (FOLFIRI) (phase 1b) and to assess the safety and efficacy of GC1118 plus FOLFIRI as a second-line therapy for recurrent/metastatic colorectal cancer (CRC) (phase 2a). Materials and Methods: Phase 1b was designed as a standard 3+3 dose-escalation study with a starting dose of GC1118 (3 mg/kg/week) in combination with biweekly FOLFIRI (irinotecan 180 mg/m2; leucovorin 400 mg/m2; 5-fluorouracil 400 mg/m2 bolus and 2,400 mg/m2 infusion over 46 hours) in patients with solid tumors refractory to standard treatments. The subsequent phase 2a part was conducted with objective response rate (ORR) as a primary endpoint. Patients with KRAS/NRAS/BRAF wild-type, EGFR-positive, recurrent/metastatic CRC resistant to the first-line treatment were enrolled in the phase 2a study. Results: RP2D of GC1118 was determined to be 3 mg/kg/wk in the phase 1b study (n=7). Common adverse drug reactions (ADRs) observed in the phase 2a study (n=24) were acneiform rash (95.8%), dry skin (66.7%), paronychia (58.3%), and stomatitis (50.0%). The most common ADR of ≥ grade 3 was neutropenia (33.3%). ORR was 42.5% (95% confidence interval [CI], 23.5 to 62.0), and median progression-free survival was 6.7 months (95% CI, 4.0-8.0). Conclusion GC1118 administered weekly at 3 mg/kg in combination with FOLFIRI appears as an effective and safe treatment option in recurrent/metastatic CRC.

Circulating tumor DNA (ctDNA) has emerged as a promising tool for various clinical applications, including early diagnosis, therapeutic target identification, treatment response monitoring, prognosis evaluation, and minimal residual disease detection. Consequently, ctDNA assays have been incorporated into clinical practice. In this review, we offer an indepth exploration of the clinical implementation of ctDNA assays. Notably, we examined existing evidence related to pre-analytical procedures, analytical components in current technologies, and result interpretation and reporting processes. The primary objective of this guidelines is to provide recommendations for the clinical utilization of ctDNA assays.

Background: Securing an available healthcare workforce is critical to respond to coronavirus disease 2019 (COVID-19); however, research investigating Korea’s COVID-19 staffing response is rare. To present the fundamental data of healthcare staff in response to the surge in COVID-19 cases, we investigated the healthcare workforce response in Daegu, South Korea, which experienced the first largest outbreak of COVID-19 outside of China. Materials and Methods: In response to the COVID-19 outbreak, this retrospective crosssectional study analyzed data on the scale and characteristics of healthcare workers (HCWs). Additionally, it analyzed the clinical and epidemiological characteristics of HCWs infected with COVID-19 in six major teaching hospitals (five tertiary and one secondary) in Daegu from January 19 to April 30, 2020. Results: During this study period, only 1.3% (n = 611) of the total hospitalized patients (n = 48,807) were COVID-19 inpatients, but they occupied 6.0% (n = 303) of the total hospital beds (n = 5,056), and 23.7% (n = 3,471) of all HCWs (n = 14,651) worked in response to COVID-19.HCWs participating in COVID-19-related works comprised 50.6% (n = 1,203) of doctors (n = 2,379), 26.3% (n = 1,571) of nurses (n = 5,982), and 11.4% (n = 697) of other HCWs (n = 6,108).Only 0.3% (n = 51) of HCWs (n = 14,651) developed COVID-19 infections from communityacquired (66.7%) or hospital-acquired (29.4%). Nurses were affected predominantly (33.3%), followed by doctors (9.8%), caregivers (7.8%), radiographers (5.9%), and others (45.1%), including nurse aides and administrative, facility maintenance, telephone appointment centers, and convenience store staff. All HCWs infected with COVID-19 recovered completely. The 32.7% (n = 333) of individuals (n = 1,018) exposed to HCWs who had COVID-19 were quarantined, and only one case of secondary transmission among them occurred. Conclusion The COVID-19 pandemic has necessitated significant staffing and facility usage, which is disproportionate to the relatively low number of COVID-19 inpatients, imposing a substantial burden on healthcare resources. Therefore, beyond the current reimbursement level of the Korean National Health Insurance, a new type of rewarding system is needed to prepare hospitals for the emerging outbreaks of infectious diseases. Keeping HCWs safe from COVID-19 is crucial for maintaining the healthcare workforce during a sudden massive outbreak. Further studies are needed to determine the standards of required HCWs through detailed research on the working hours and intensity of HCWs responding to COVID-19.

BACKGROUND: Androgenic alopecia (AGA) is the most common type of hair loss. It is likely inherited genetically and is promoted by dihydrotestosterone. 5α-reductase has been proven a good target through finasteride use. However, the pathogenesis of AGA cannot be fully explained based only on dihydrotestosterone levels. OBJECTIVE: To identify similar hairloss inhibition activity of RE-ORGA with mode of action other than finasteride. METHODS: We prepared RE-ORGA from Korean herb mixtures. We performed MTT assays for cytotoxicity, Cell Counting Kit-8 assays for cell proliferation, and western blot to identify expression levels of 5α-reductase and Bax. RNA-sequencing was performed for the expression patterns of genes in dihydrotestosterone-activated pathways. Anti-inflammatory activity was also assessed by the expression levels of tumor necrosis factor-alpha (TNF-α) and interleukin 6. RESULTS: REORGA could promote the proliferation of human dermal papilla cells and showed low cytotoxicity. It also inhibited the expression of 5α-reductases and Bax in the cells. RNA-sequencing results verified that the mRNA expressions of SRD5A1, Bax, transforming growth factor-beta 1 (TGF-β1), and TGF-β1 induced transcript 1 (TGFβ1I1) were decreased, whereas expression of protein tyrosine kinase 2 beta (PTK2β) was more elevated. REORGA also showed anti-inflammatory activity through decreased mRNA levels of TNF-α. CONCLUSION: Transcriptionally, up-regulation of PTK2β and concomitant down-regulation of TGFβ1I1 imply that RE-ORGA can modulate androgen receptor sensitivity, decreasing the expression of 5α-reductase type II and Bax together with TGF-β1 transcripts; RE-ORGA also showed partial anti-inflammatory activity. Overall, RE-ORGA is expected to alleviate hair loss by regulating 5α-reductase activity and the receptor's androgen sensitivity.
Alopecia ; Blotting, Western ; Cell Count ; Cell Proliferation ; Cholestenone 5 alpha-Reductase ; Dihydrotestosterone ; Down-Regulation ; Finasteride ; Hair ; Humans ; Interleukin-6 ; Protein-Tyrosine Kinases ; Receptors, Androgen ; RNA, Messenger ; Tumor Necrosis Factor-alpha ; Up-Regulation

BACKGROUND/OBJECTIVES: Numerous researches have studied the association between sugar intake and obesity of children in many countries. This study was undertaken to investigate the association between beverage intake and obesity of children by reviewing a database for total sugar contents established in all foods and presented in a nutrition survey by the Korea National Health and Nutrition Examination Survey (KNHANES). SUBJECTS/METHODS: Data of 1,520 children aged 6–11 years in the 6th KNHANES (2013–2015) were analyzed for this study. A database for total sugar intake comprises the total sugar contents of all foods included in the results of a nutrition survey using the 24-hour recall method of 6th KNHANES. Beverages were categorized into carbonated beverages, fruit & vegetable drinks, other drinks, tea, and coffee. RESULTS: The average daily beverage intake of all children was 131.75 g/day, and the average daily total sugar intake in beverages was 13.76 g/day. Carbonated beverages had the highest intake rate (58.85 g/day) and also ranked highest for sugar intake (6.36 g/day). After adjusting for confounding variables, the odds ratio for obesity in children with beverage intake of ≥ 200 mL/day significantly increased by 1.83 times (95% CI, 1.11–3.00) as compared to children with beverage intake of < 200 mL/day. Also, a significant increase was observed in the odds ratio for obesity in total children (2.41 times; 95% CI, 1.35–4.33) and boys (3.15 times; 95% CI, 1.53–6.49) with carbonated beverage intake of ≥ 200 mL/day when compared with children who consumed < 200 mL/day. CONCLUSION: A positive association is observed between beverage intake and obesity in Korean children. In particular, an intake of carbonated beverages has a positive correlation with childhood obesity in boys. This study can therefore be used as scientific evidence for reducing sugar, and for the continuous management and research on beverages.
Beverages* ; Carbohydrates ; Carbonated Beverages ; Child* ; Coffee ; Confounding Factors (Epidemiology) ; Fruit ; Humans ; Korea* ; Methods ; Nutrition Surveys* ; Obesity* ; Odds Ratio ; Pediatric Obesity ; Tea ; Vegetables

Ménétrier’s disease (MD), which is characterized by hypertrophic gastric folds and foveolar cell hyperplasia, is the most common gastrointestinal (GI) cause of protein-losing enteropathy (PLE). The clinical course of MD in childhood differs from that in adults and has often been reported to be associated with cytomegalovirus (CMV) infection. We present a case of a previously healthy 22-month-old boy presenting with PLE, who was initially suspected to have an eosinophilic GI disorder. However, he was eventually confirmed, by detection of CMV DNA using polymerase chain reaction (PCR) with gastric tissue, to have MD associated with an active CMV infection. We suggest that endoscopic and pathological evaluation is necessary for the differential diagnosis of MD. In addition, CMV DNA detection using PCR analysis of biopsy tissue is recommended to confirm the etiologic agent of MD regardless of the patient’s age or immune status.
Adult ; Biopsy ; Child ; Cytomegalovirus Infections ; Cytomegalovirus ; Diagnosis, Differential ; DNA ; Eosinophils ; Gastritis, Hypertrophic ; Humans ; Hyperplasia ; Infant ; Male ; Polymerase Chain Reaction ; Protein-Losing Enteropathies