Background: Acute deterioration of patients in general wards often leads to major adverse events (MAEs), including unplanned intensive care unit transfers, cardiac arrest, or death. Traditional early warning scores (EWSs) have shown limited predictive accuracy, with frequent false positives. We conducted a prospective observational external validation study of an artificial intelligence (AI)-based EWS, the VitalCare - Major Adverse Event Score (VC-MAES), at a tertiary medical center in the Republic of Korea. Methods: Adult patients from general wards, including internal medicine (IM) and obstetrics and gynecology (OBGYN)—the latter were rarely investigated in prior AI-based EWS studies—were included. The VC-MAES predictions were compared with National Early Warning Score (NEWS) and Modified Early Warning Score (MEWS) predictions using the area under the receiver operating characteristic curve (AUROC), area under the precision-recall curve (AUPRC), and logistic regression for baseline EWS values. False-positives per true positive (FPpTP) were assessed based on the power threshold. Results: Of 6,039 encounters, 217 (3.6%) had MAEs (IM: 9.5%, OBGYN: 0.26%). Six hours prior to MAEs, the VC-MAES achieved an AUROC of 0.918 and an AUPRC of 0.352, including the OBGYN subgroup (AUROC, 0.964; AUPRC, 0.388), outperforming the NEWS (0.797 and 0.124) and MEWS (0.722 and 0.079). The FPpTP was reduced by up to 71%. Baseline VC-MAES was strongly associated with MAEs (P<0.001). Conclusions The VC-MAES significantly outperformed traditional EWSs in predicting adverse events in general ward patients. The robust performance and lower FPpTP suggest that broader adoption of the VC-MAES may improve clinical efficiency and resource allocation in general wards.

Objectives: Dietary quality is a modifiable determinant of type 2 diabetes mellitus (T2DM). However, evidence on the Korean Healthy Eating Index (KHEI) and sex-specific differences in its association with T2DM risk remains limited. This study is to examine the longitudinal association between KHEI and incident T2DM in Korean adults, with a focus on potential sex differences. Methods: We analyzed 56,000 adults (37,684 women and 18,316 men) from the Health Examinee cohort of the Korean Genome and Epidemiology Study. Dietary intake was assessed using a validated semi-quantitative food frequency questionnaire, and KHEI scores were constructed based on national guidelines. Incident T2DM was defined using physician diagnosis, treatment history, or biochemical criteria. Cox proportional hazards models and restricted cubic spline analyses were applied to evaluate associations, with adjustments for demographic, lifestyle, and clinical covariates. Results: Over a median follow-up of 4.2 years, 2,252 women and 1,776 men developed T2DM. Women in the highest quartile of KHEI had a 18% lower risk of T2DM compared with those in the lowest quartile (hazard ratio [HR]: 0.82, 95% confidence interval [CI]: 0.71–0.93; P for trend = 0.007). In men, no significant association was observed (HR: 1.11, 95% CI: 0.95–1.29). The interaction by sex was statistically significant (P for interaction < 0.05). Spline analyses indicated a linear inverse association between KHEI and T2DM risk in women, whereas no trend was evident in men. Conclusion Higher diet quality, as measured by the KHEI, was associated with a reduced risk of T2DM in women but not in men, suggesting sex-specific effects of dietary patterns on diabetes prevention. These findings highlight the need for tailored nutritional strategies that consider biological and behavioral differences between women and men in Korea.

Objective: Essential development of the frontal lobe occurs during childhood and adolescence, affecting various executive function (EF) domains. Of the frontal areas, the supplementary motor area (SMA) located in the medial frontal cortex, is involved in various high-order EFs which include inhibition, working memory, and cognitive flexibility.However, it remains unclear how the functional network of the SMA is associated with EF development. Methods: We assessed Wisconsin Card Sorting Test (WCST) score and resting state functional magnetic resonance imaging data from 6- to 17-year-old children and adolescents to identify age differences in SMA functional connectivity (FC) associated with EF. Results: A total of 112 children and adolescents (62 males; mean [standard deviation] age, 12.21 [2.98] years) were included. After adjusting for sex, we discovered significant evidence in the older group that 300 FCs between the SMA and numerous regions of the brain, including the frontal, occipital, parietal, temporal, limbic, and cerebellar areas, were negatively correlated with the WCST subcategories (false discovery rate ＜ 0.05). Conclusion This finding underscores the SMA’s pivotal role in executive dysfunction during developmental stages.Interestingly, this significant connectivity was absent in younger participants, highlighting the age range of 11−12 as a critical turning point for brain functional alterations involved in EF development. Since the crucial role of SMA in refining EF development has been underappreciated, this work has the potential to provide insight into both the nature of the functional alteration of SMA and the differences in individuals’ EF development trajectories.

Background: Facioscapulohumeral muscular dystrophy (FSHD) is a common form of muscular dystrophy that mainly affects skeletal muscle. FSHD1 accounts for 95% of all FSHD cases and can be diagnosed based on the pathogenic contraction of the D4Z4-repeat array on chromosome 4q35. Genetic diagnosis of FSHD1 is challenging because of the large size and repetitive nature of the D4Z4 region. We evaluated the clinical applicability of optical genome mapping (OGM) for the genetic diagnosis of FSHD1. Methods: We included 25 individuals with clinically confirmed or suspected/probable FSHD and their families. Ultra-high-molecular-weight DNA from peripheral blood was labeled, stained, and imaged using a single-molecule OGM platform (Bionano Genomics Saphyr system). D4Z4 repeat size and haplotype information were analyzed using the manufacturer’s dedicated pipeline. We also compared the workflow and test time between Southern blot analysis and OGM. Results: We obtained concordant OGM and Southern blot results with 10 samples from patients with clinically confirmed FSHD. The D4Z4 repeat size differed within 1 unit between the Southern blot analysis and OGM. Among nine patients with clinically suspected or probable FSHD, six patients were confirmed to have pathogenic contractions by OGM.In our cohort, one de novo mosaic FSHD1 patient was successfully diagnosed with OGM.Moreover, OGM has a more straightforward and less time-consuming workflow than Southern blot analysis. Conclusions OGM enables accurate and reliable detection of pathogenic contraction of the D4Z4-repeat array and is a valuable tool for the genetic diagnosis of FSHD1.

Background: Facioscapulohumeral muscular dystrophy (FSHD) is a common form of muscular dystrophy that mainly affects skeletal muscle. FSHD1 accounts for 95% of all FSHD cases and can be diagnosed based on the pathogenic contraction of the D4Z4-repeat array on chromosome 4q35. Genetic diagnosis of FSHD1 is challenging because of the large size and repetitive nature of the D4Z4 region. We evaluated the clinical applicability of optical genome mapping (OGM) for the genetic diagnosis of FSHD1. Methods: We included 25 individuals with clinically confirmed or suspected/probable FSHD and their families. Ultra-high-molecular-weight DNA from peripheral blood was labeled, stained, and imaged using a single-molecule OGM platform (Bionano Genomics Saphyr system). D4Z4 repeat size and haplotype information were analyzed using the manufacturer’s dedicated pipeline. We also compared the workflow and test time between Southern blot analysis and OGM. Results: We obtained concordant OGM and Southern blot results with 10 samples from patients with clinically confirmed FSHD. The D4Z4 repeat size differed within 1 unit between the Southern blot analysis and OGM. Among nine patients with clinically suspected or probable FSHD, six patients were confirmed to have pathogenic contractions by OGM.In our cohort, one de novo mosaic FSHD1 patient was successfully diagnosed with OGM.Moreover, OGM has a more straightforward and less time-consuming workflow than Southern blot analysis. Conclusions OGM enables accurate and reliable detection of pathogenic contraction of the D4Z4-repeat array and is a valuable tool for the genetic diagnosis of FSHD1.

Background: Facioscapulohumeral muscular dystrophy (FSHD) is a common form of muscular dystrophy that mainly affects skeletal muscle. FSHD1 accounts for 95% of all FSHD cases and can be diagnosed based on the pathogenic contraction of the D4Z4-repeat array on chromosome 4q35. Genetic diagnosis of FSHD1 is challenging because of the large size and repetitive nature of the D4Z4 region. We evaluated the clinical applicability of optical genome mapping (OGM) for the genetic diagnosis of FSHD1. Methods: We included 25 individuals with clinically confirmed or suspected/probable FSHD and their families. Ultra-high-molecular-weight DNA from peripheral blood was labeled, stained, and imaged using a single-molecule OGM platform (Bionano Genomics Saphyr system). D4Z4 repeat size and haplotype information were analyzed using the manufacturer’s dedicated pipeline. We also compared the workflow and test time between Southern blot analysis and OGM. Results: We obtained concordant OGM and Southern blot results with 10 samples from patients with clinically confirmed FSHD. The D4Z4 repeat size differed within 1 unit between the Southern blot analysis and OGM. Among nine patients with clinically suspected or probable FSHD, six patients were confirmed to have pathogenic contractions by OGM.In our cohort, one de novo mosaic FSHD1 patient was successfully diagnosed with OGM.Moreover, OGM has a more straightforward and less time-consuming workflow than Southern blot analysis. Conclusions OGM enables accurate and reliable detection of pathogenic contraction of the D4Z4-repeat array and is a valuable tool for the genetic diagnosis of FSHD1.

Background: Facioscapulohumeral muscular dystrophy (FSHD) is a common form of muscular dystrophy that mainly affects skeletal muscle. FSHD1 accounts for 95% of all FSHD cases and can be diagnosed based on the pathogenic contraction of the D4Z4-repeat array on chromosome 4q35. Genetic diagnosis of FSHD1 is challenging because of the large size and repetitive nature of the D4Z4 region. We evaluated the clinical applicability of optical genome mapping (OGM) for the genetic diagnosis of FSHD1. Methods: We included 25 individuals with clinically confirmed or suspected/probable FSHD and their families. Ultra-high-molecular-weight DNA from peripheral blood was labeled, stained, and imaged using a single-molecule OGM platform (Bionano Genomics Saphyr system). D4Z4 repeat size and haplotype information were analyzed using the manufacturer’s dedicated pipeline. We also compared the workflow and test time between Southern blot analysis and OGM. Results: We obtained concordant OGM and Southern blot results with 10 samples from patients with clinically confirmed FSHD. The D4Z4 repeat size differed within 1 unit between the Southern blot analysis and OGM. Among nine patients with clinically suspected or probable FSHD, six patients were confirmed to have pathogenic contractions by OGM.In our cohort, one de novo mosaic FSHD1 patient was successfully diagnosed with OGM.Moreover, OGM has a more straightforward and less time-consuming workflow than Southern blot analysis. Conclusions OGM enables accurate and reliable detection of pathogenic contraction of the D4Z4-repeat array and is a valuable tool for the genetic diagnosis of FSHD1.

Purpose: Culture-based methods for microbiological diagnosis and antibiotic susceptibility tests have limitations in the management of orofacial infections. We aimed to profile pus microbiota and identify antibiotic resistance genes (ARGs) using a culture-independent approach. Materials and Methods: Genomic DNA samples extracted from the pus specimens of two patients with orofacial abscesses were subjected to shotgun sequencing on the NovaSeq system. Taxonomic profiling and prediction of ARGs were performed directly from the metagenomic raw reads.Result: Taxonomic profiling revealed obligate anaerobic polymicrobial communities associated with infections of odontogenic origins: the microbial community of Patient 1 consisted of one predominant species (Prevotella oris 74.6%) with 27 minor species, while the sample from Patient 2 contained 3 abundant species (Porphyromonas endodontalis 33.0%; P. oris 31.6%; and Prevotella koreensis 13.4%) with five minor species. A total of 150 and 136 putative ARGs were predicted in the metagenome of each pus sample. The coverage of most predicted ARGs was less than 10%, and only the CfxA2 gene identified in Patient 1 was covered 100%. ARG analysis of the seven assembled genome/ metagenome datasets of P. oris revealed that strain C735 carried the CfxA2 gene. Conclusion A metagenomics-based approach is useful to profile predominantly anaerobic polymicrobial communities but needs further verification for reliable ARG detection.

PURPOSE: Simple and reliable animal models of human diseases contribute to the understanding of disease pathogenesis as well as the development of therapeutic interventions. Although several murine models to mimic human asthma have been established, most of them require anesthesia, resulting in variability among test individuals, and do not mimic asthmatic responses accompanied by T-helper (Th) 17 and neutrophils. As dendritic cells (DCs) are known to play an important role in initiating and maintaining asthmatic inflammation, we developed an asthma model via adoptive transfer of allergen-loaded DCs.METHODS: Ovalbumin (OVA)-loaded bone marrow-derived DCs (BMDCs) (OVA-BMDCs) were injected intravenously 3 times into non-anesthetized C57BL/6 mice after intraperitoneal OVA-sensitization.RESULTS: OVA-BMDC-transferred mice developed severe asthmatic immune responses when compared with mice receiving conventional OVA challenge intranasally. Notably, remarkable increases in systemic immunoglobulin (Ig) E and IgG1 responses, Th2/Th17-associated cytokines (interleukin [IL]-5, IL-13 and IL-17), Th2/Th17-skewed T-cell responses, and cellular components, including eosinophils, neutrophils, and goblet cells, were observed in the lungs of OVA-BMDC-transferred mice. Moreover, the asthmatic immune responses and severity of inflammation were correlated with the number of OVA-BMDCs transferred, indicating that the disease severity and asthma type may be adjusted according to the experimental purpose by this method. Furthermore, this model exhibited less variation among the test individuals than the conventional model. In addition, this DCs-based asthma model was partially resistant to steroid treatment.CONCLUSIONS: A reliable murine model of asthma by intravenous (i.v.) transfer of OVA-BMDCs was successfully established without anesthesia. This model more accurately reflects heterogeneous human asthma, exhibiting a robust Th2/Th17-skewed response and eosinophilic/neutrophilic infiltration with good reproducibility and low variation among individuals. This model will be useful for understanding the pathogenesis of asthma and would serve as an alternative tool for immunological studies on the function of DCs, T-cell responses and new drugs.
Adoptive Transfer ; Anesthesia ; Animals ; Asthma ; Cytokines ; Dendritic Cells ; Eosinophils ; Goblet Cells ; Humans ; Immunoglobulin G ; Immunoglobulins ; Inflammation ; Interleukin-13 ; Lung ; Methods ; Mice ; Models, Animal ; Neutrophils ; Ovalbumin ; Ovum ; T-Lymphocytes

OBJECTIVE: The objective of this study was to investigate the Korean public’s recognition of autism spectrum disorder (ASD), revealing underlying factors regarding perception relative to etiology and treatment of ASD, and examining variables related to those factors. METHODS: An online survey was held to investigate mental health literacy (MHL) on ASD of the general public in Korea. A total of 673 adults participated and completed questionnaires on socio-demographic characteristics and if they know someone with ASD. Next, participants were provided with a vignette describing a child with ASD. Only those that recognized there was a problem with the child moved to the next part which asked their perception regarding etiology and treatment of ASD. RESULTS: According to our study, approximately 25% of participants correctly recognized the child in the vignette as having ASD. Perception regarding etiology and treatment of ASD varied among socio-demographic characteristics. Participants acquainted with someone with ASD and correctly recognized ASD held mixed perception regarding cause and treatment. CONCLUSION: This study investigated MHL of ASD in Korea. The result reveals there is much room for improvement relative to raising awareness on MHL of ASD. Intervention considering socio-demographic characteristics and acquaintance with ASD are needed.
Adult ; Autism Spectrum Disorder ; Autistic Disorder ; Child ; Humans ; Korea ; Literacy ; Mental Health