Background: Copy number variations (CNVs) play an important role in human genetic disorders. Detection of exon-level CNVs is crucial for accurate clinical diagnosis. The CytoScan XON Array, a high-resolution microarray, was recently developed to detect exonic CNVs of various genes. Methods: We evaluated the clinical performance of the CytoScan XON Array using 59 patient samples with previously identified CNVs, confirmed via methods including multiple ligation-dependent probe amplification (MLPA), gene-dose PCR, and mRNA assay. Concordance between CytoScan XON and orthogonal methods was evaluated in target regions, and diagnostic utility was compared with that of genome sequencing (GS)-based CNV calling tools through analysis of false-positive CNVs in non-target genomic regions. Results: For target regions, the CytoScan XON Array achieved concordance rates of 89.8% and 92.5% at the exon and gene levels, respectively, for all CNV calls. Concordance was higher for multi-exon CNVs (100%) than that for single-exon CNVs (82.6%, P = 0.03). For non-target regions, false-positive CNV calls were reduced to fewer than 0.01 per gene per person through filtering strategies. The array exhibited false-positive detection rates within dosage-sensitive genes comparable with those of GS-based tools. Conclusions The CytoScan XON Array, a reliable tool for detecting exon-level CNVs in target regions, can serve as a complementary approach to GS-based CNV calling tools for genome-wide CNV screening with high resolution. However, its performance for single-exon CNVs requires further optimization. Cross-validation with GS-based CNV calling tools is recommended to improve diagnostic accuracy.

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.

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.

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.

Background: Understanding disparities in severe coronavirus disease 2019 (COVID-19) outcomes between people with disabilities (PwD) and people without disabilities (PwoD) is crucial, particularly when considering the heterogeneity within PwD and age differences.This study aimed to compare severe COVID-19 outcomes including deaths between PwD and PwoD with analyses stratified by age group and further examined by disability type. Methods: This retrospective, population-based cohort study used linked data from national COVID-19 cases and health insurance for individuals aged ≥ 19 years with COVID-19 from January 2020 to October 2022 in the Republic of Korea. Severe outcomes included severe cases and deaths, with logistic regression analysis of the risk disparities between PwD and PwoD based on age group and disability types. The subgroup analysis considered epidemic periods, accounting for the severe acute respiratory syndrome coronavirus 2 variant circulation. Results: The risk of severe COVID-19 outcomes and deaths among PwD varied by age and disability type. While severe outcomes were most prevalent in the older age groups for both PwD and PwoD, younger PwD faced a markedly higher risk—up to eightfold—compared to PwoD. The risk of disability status was greater than that of comorbidities in the 19–39 age group. Among disability types, individuals with internal organs-related and intellectual disabilities showed higher risk disparities with PwoD in severe outcomes than other types of disabilities. Throughout the pandemic, the disparity in death risk remained similar, with a slight increase in disparity during the omicron period for all severe outcomes in the age groups 19–39 and 40–64 years. Conclusion Prioritizing younger PwD, along with older age groups and people with comorbidities, is crucial in addressing public health crises. Risk-based prioritization is important to reduce overall risk. This includes prioritizing people with nternal organs-related and intellectural disabilities, who face higher health risks among PwD during a pandemic when resources are limited and time is of the essence.

Background: Understanding disparities in severe coronavirus disease 2019 (COVID-19) outcomes between people with disabilities (PwD) and people without disabilities (PwoD) is crucial, particularly when considering the heterogeneity within PwD and age differences.This study aimed to compare severe COVID-19 outcomes including deaths between PwD and PwoD with analyses stratified by age group and further examined by disability type. Methods: This retrospective, population-based cohort study used linked data from national COVID-19 cases and health insurance for individuals aged ≥ 19 years with COVID-19 from January 2020 to October 2022 in the Republic of Korea. Severe outcomes included severe cases and deaths, with logistic regression analysis of the risk disparities between PwD and PwoD based on age group and disability types. The subgroup analysis considered epidemic periods, accounting for the severe acute respiratory syndrome coronavirus 2 variant circulation. Results: The risk of severe COVID-19 outcomes and deaths among PwD varied by age and disability type. While severe outcomes were most prevalent in the older age groups for both PwD and PwoD, younger PwD faced a markedly higher risk—up to eightfold—compared to PwoD. The risk of disability status was greater than that of comorbidities in the 19–39 age group. Among disability types, individuals with internal organs-related and intellectual disabilities showed higher risk disparities with PwoD in severe outcomes than other types of disabilities. Throughout the pandemic, the disparity in death risk remained similar, with a slight increase in disparity during the omicron period for all severe outcomes in the age groups 19–39 and 40–64 years. Conclusion Prioritizing younger PwD, along with older age groups and people with comorbidities, is crucial in addressing public health crises. Risk-based prioritization is important to reduce overall risk. This includes prioritizing people with nternal organs-related and intellectural disabilities, who face higher health risks among PwD during a pandemic when resources are limited and time is of the essence.

Background: Understanding disparities in severe coronavirus disease 2019 (COVID-19) outcomes between people with disabilities (PwD) and people without disabilities (PwoD) is crucial, particularly when considering the heterogeneity within PwD and age differences.This study aimed to compare severe COVID-19 outcomes including deaths between PwD and PwoD with analyses stratified by age group and further examined by disability type. Methods: This retrospective, population-based cohort study used linked data from national COVID-19 cases and health insurance for individuals aged ≥ 19 years with COVID-19 from January 2020 to October 2022 in the Republic of Korea. Severe outcomes included severe cases and deaths, with logistic regression analysis of the risk disparities between PwD and PwoD based on age group and disability types. The subgroup analysis considered epidemic periods, accounting for the severe acute respiratory syndrome coronavirus 2 variant circulation. Results: The risk of severe COVID-19 outcomes and deaths among PwD varied by age and disability type. While severe outcomes were most prevalent in the older age groups for both PwD and PwoD, younger PwD faced a markedly higher risk—up to eightfold—compared to PwoD. The risk of disability status was greater than that of comorbidities in the 19–39 age group. Among disability types, individuals with internal organs-related and intellectual disabilities showed higher risk disparities with PwoD in severe outcomes than other types of disabilities. Throughout the pandemic, the disparity in death risk remained similar, with a slight increase in disparity during the omicron period for all severe outcomes in the age groups 19–39 and 40–64 years. Conclusion Prioritizing younger PwD, along with older age groups and people with comorbidities, is crucial in addressing public health crises. Risk-based prioritization is important to reduce overall risk. This includes prioritizing people with nternal organs-related and intellectural disabilities, who face higher health risks among PwD during a pandemic when resources are limited and time is of the essence.

Background: Understanding disparities in severe coronavirus disease 2019 (COVID-19) outcomes between people with disabilities (PwD) and people without disabilities (PwoD) is crucial, particularly when considering the heterogeneity within PwD and age differences.This study aimed to compare severe COVID-19 outcomes including deaths between PwD and PwoD with analyses stratified by age group and further examined by disability type. Methods: This retrospective, population-based cohort study used linked data from national COVID-19 cases and health insurance for individuals aged ≥ 19 years with COVID-19 from January 2020 to October 2022 in the Republic of Korea. Severe outcomes included severe cases and deaths, with logistic regression analysis of the risk disparities between PwD and PwoD based on age group and disability types. The subgroup analysis considered epidemic periods, accounting for the severe acute respiratory syndrome coronavirus 2 variant circulation. Results: The risk of severe COVID-19 outcomes and deaths among PwD varied by age and disability type. While severe outcomes were most prevalent in the older age groups for both PwD and PwoD, younger PwD faced a markedly higher risk—up to eightfold—compared to PwoD. The risk of disability status was greater than that of comorbidities in the 19–39 age group. Among disability types, individuals with internal organs-related and intellectual disabilities showed higher risk disparities with PwoD in severe outcomes than other types of disabilities. Throughout the pandemic, the disparity in death risk remained similar, with a slight increase in disparity during the omicron period for all severe outcomes in the age groups 19–39 and 40–64 years. Conclusion Prioritizing younger PwD, along with older age groups and people with comorbidities, is crucial in addressing public health crises. Risk-based prioritization is important to reduce overall risk. This includes prioritizing people with nternal organs-related and intellectural disabilities, who face higher health risks among PwD during a pandemic when resources are limited and time is of the essence.

Background: During the early stages of the COVID-19 pandemic, many residents of longterm care facilities (LTCFs) in various countries were infected with COVID-19, leading to high mortality. This study aimed to identify risk factors associated with severe disease progression and mortality among LTCF residents to mitigate the impact of COVID-19 on this vulnerable population. Methods: We analyzed risk factors for severe disease and mortality in 224,983 patients with COVID-19 aged 50 years or older, focusing specifically on 4,442 LTCF residents. Results: Logistic regression analysis showed that, among all patients aged 50 and older, severe progression was associated with LTCF residence (OR: 1.29, 95% CI: 1.15-1.44), older age, male sex, higher Charlson Comorbidity Index (CCI), and having received fewer than three doses of COVID-19 vaccine. Mortality within 30 days was associated with LTCF residence (OR: 2.04, 95% CI: 1.86-2.24), older age, male sex, higher CCI, under-vaccination, and receipt of medical aid. Among LTCF residents, male sex and lack of COVID-19 vaccination (OR: 4.37, 95% CI: 2.77-6.91) were significantly associated with increased risk of severe progression.Mortality among LTCF residents was associated with older age, male sex, absence of vaccination (OR: 6.18, 95% CI: 4.40-8.68), no hospitalization or emergency room visit within 30 days after diagnosis, and an LTCF stay of longer than one year (OR: 1.51, 95% CI: 1.09-2.09). A higher number of medical staff in LTCF was significantly associated with lower mortality (OR:0.71, 95% CI: 0.55-0.91). Conclusion LTCF residents shared similar risk factors for severe COVID-19 progression and mortality as the general population. Timely medical intervention for LTCF residents may help reduce severe outcomes and prevent death.

Objectives: In this functional magnetic resonance imaging study, we aimed to investigate the differences in brain activation between individuals with autism spectrum disorder (ASD) and typically developing (TD) individuals during perspective taking. We also examined the association between brain activation and empathic and interoceptive abilities. Methods: During scanning, participants from the ASD (n=17) and TD (n=22) groups were shown pain stimuli and asked to rate the level of the observed pain from both self- and other-perspectives. Empathic abilities, including perspective taking, were measured using an empathic questionnaire, and three dimensions of interoception were assessed: interoceptive accuracy, interoceptive sensibility, and interoceptive trait prediction errors. Results: During self-perspective taking, the ASD group exhibited greater activation in the left precuneus than the TD group. During other-perspective taking, relative hyperactivation extended to areas including the right precuneus, right superior frontal gyrus, left caudate nucleus, and left amygdala. Brain activation levels in the right superior frontal gyrus while taking other-perspective were negatively correlated with interoceptive accuracy, and those in the left caudate were negatively correlated with perspective taking ability in the ASD group. Conclusion Individuals with ASD show atypical brain activation during perspective taking. Notably, their brain regions associated with stress reactions and escape responses are overactivated when taking other-perspective. This overactivity is related to poor interoceptive accuracy, suggesting that individuals with ASD may experience difficulties with the self-other distinction or atypical embodiment when considering another person’s perspective.