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 aimed to examine the effect of artificial intelligence (AI) literacy on attitudes toward digital technology and the mediating effect of technostress on this relationship among health professions students. Methods: An online survey was conducted from May to October 2025 with 1,314 students enrolled in medical schools, nursing schools, dental schools, and graduate schools of dentistry nationwide. Structural equation modeling and bootstrapping analyses were performed. Results: The analysis revealed that AI literacy significantly reduced technostress and enhanced attitudes toward digital technology. Technostress also had a negative effect on attitudes toward digital technology, and a partial mediating effect was identified in the relationship between AI literacy and attitudes toward digital technology. In other words, higher levels of AI literacy were associated with lower technostress, which, in turn, led to more positive attitudes toward digital technology. Multigroup analysis further showed that the effect of AI literacy on technostress differed across majors, being significant for medical and nursing students, but not for dental students. Conclusion This study confirmed that improving AI literacy reduces technology-related stress and promotes positive attitudes toward digital technology. These findings suggest the need for AI and digital technology education designs that consider the psychological factors of learners in medical education. Furthermore, the observed group differences suggest that AI literacy may function differently depending on discipline-specific technological and educational contexts.

Background: and Purpose: To assess the long-term effectiveness, safety, and economic viability of recently approved Alzheimer’s disease (AD) therapies, as well as to evaluate the real-world application of novel diagnostics among AD patients with diverse comorbidities, comprehensive real-world data (RWD) analysis is essential. The Korean JOint RegistrY for ALZheimer’s Treatment and Diagnostics (JOY-ALZ) endeavors to create a registry of RWD derived from clinical practice on new diagnostic methods and therapeutic agents for AD introduced in Korea since 2021. Methods: Participants must fulfill all the following: 1) be at least 19 years old; 2) be actively receiving, scheduled to initiate, or undergoing evaluation for any AD disease-modifying treatment; 3) have completed amyloid positron emission tomography or cerebrospinal fluid AD immunoassay (a positive result is not essential for participation); 4) have a clinical classification of cognitively unimpaired, mild cognitive impairment, or probable AD dementia. Data generated during routine care is segmented into a minimum dataset, extended dataset, and research-only dataset requiring extra consent. Assessments encompass clinical, cognitive, functional, neurobehavioral, neuroimaging, and biomarker evaluations, in addition to systematic monitoring of new AD treatments and their safety.Data are collected and monitored at baseline, at semiannual intervals during the initial 2 years, and then annually up to 2034. To date, 46 medical centers will participate in JOY-ALZ. Conclusions JOY-ALZ is expected to promote understanding of the long-term clinical outcomes, safety, and cost-effectiveness of recently introduced diagnostics and treatments for AD, thereby supporting the progress of precision medicine in AD care and diagnosis.

Background: To investigate the fracture risks associated with anti-diabetic drugs in older women with type 2 diabetes mellitus (T2DM), who are particularly susceptible to skeletal fragility. Methods: Using data from the Korean National Health Insurance Service, this nested case-control study included 10,104 older women with T2DM and osteoporotic fractures (aged 66.5±3.4 years) matched in a 1:3 ratio with controls by birthdate, Charlson Comorbidity Index, and cohort entry date. We analyzed the odds of major osteoporotic fracture (MOF), vertebral fracture (VF), and non-VF (NVF) in users of sulfonylurea, thiazolidinedione (TZD), dipeptidyl peptidase-4 inhibitor, and sodium-glucose cotransporter 2 inhibitor (SGLT2i), compared to metformin (Met)-only users using multivariable logistic regression. Results: During a follow-up period of 3.8±2.8 years, TZD users had a higher risk of MOF than Met-only users (odds ratio [OR], 1.35; 95% confidence interval [CI], 1.19-1.53; P<0.001). Risks of VF and NVF were also increased in the TZD group (OR, 1.21; 95% CI 1.03-1.42; P=0.022 and OR, 1.32; 95% CI 1.14-1.52; P<0.001, respectively). No significant differences were observed in other drug groups. The increased risk of VF and NVF in the TZD group were particularly pronounced in patients with normal or osteopenic bone mineral density (BMD) and in those with normal body mass index (BMI), respectively. Conclusions In older women with T2DM, TZD use was associated with increased VF and NVF risks, particularly among those with normal or osteopenic BMD and normal BMI. SGLT2i showed no increased risk, but further large-scale studies are needed to confirm its skeletal safety.

Radiofrequency ablation (RFA) is a minimally invasive treatment modality used as an alternative to surgery in patients with benign thyroid nodules, recurrent thyroid cancers (RTCs), and primary thyroid microcarcinomas. The Korean Society of Thyroid Radiology (KSThR) initially developed recommendations for the optimal use of RFA for thyroid tumors in 2009 and revised them in 2012 and 2017. As new meaningful evidence has accumulated since 2017 and in response to a growing global interest in the use of RFA for treating malignant thyroid lesions, the task force committee members of the KSThR decided to update the guidelines on the use of RFA for the management of RTCs based on a comprehensive analysis of current literature and expert consensus.

Radiofrequency ablation (RFA) is a minimally invasive treatment modality used as an alternative to surgery in patients with benign thyroid nodules, recurrent thyroid cancers (RTCs), and primary thyroid microcarcinomas. The Korean Society of Thyroid Radiology (KSThR) initially developed recommendations for the optimal use of RFA for thyroid tumors in 2009 and revised them in 2012 and 2017. As new meaningful evidence has accumulated since 2017 and in response to a growing global interest in the use of RFA for treating malignant thyroid lesions, the task force committee members of the KSThR decided to update the guidelines on the use of RFA for the management of RTCs based on a comprehensive analysis of current literature and expert consensus.

Background: and Purpose We aimed to determine the proportion of Korean patients with early Alzheimer’s disease (AD) who are eligible to receive lecanemab based on the United States Appropriate Use Recommendations (US AUR), and also identify the barriers to this treatment. Methods: We retrospectively enrolled 6,132 patients with amnestic mild cognitive impairment or mild amnestic dementia at 13 hospitals from June 2023 to May 2024. Among them, 2,058 patients underwent amyloid positron emission tomography (PET) and 1,199 (58.3%) of these patients were amyloid-positive on PET. We excluded 732 patients who did not undergo brain magnetic resonance imaging between June 2023 and May 2024. Finally, 467 patients were included in the present study. Results: When applying the criteria of the US AUR, approximately 50% of patients with early AD were eligible to receive lecanemab treatment. Among the 467 included patients, 36.8% did not meet the inclusion criterion of a Mini-Mental State Examination (MMSE) score of ≥22. Conclusions Eligibility for lecanemab treatment was not restricted to Korean patients with early AD except for those with an MMSE score of ≥22. The MMSE criteria should therefore be reconsidered in areas with a higher proportion of older people, who tend to have lower levels of education.

Background: Despite the necessity of long-term management for fracture risk reduction, adherence to osteoporosis pharmacotherapy remains poor. We investigated the factors influencing adherence to pharmacotherapy among Korean patients with osteoporosis, with a particular focus on treatment with bisphosphonates (BPs). Methods: Data from 725,313 osteoporosis patients newly prescribed BPs or selective estrogen receptor modulators (SERMs) between 2012 and 2014, obtained from the Korean National Health Insurance Service, were analyzed. Adherence was assessed based on compliance and persistence over a two-year period, with factors associated with adherence identified using multivariable logistic regression. Results: Only 14.8% of the patients who started BPs or SERMs sustained medication compliance, with 15.8% persisting with treatment over the two-year follow-up. Compared with BPs, patients receiving SERMs showed better compliance and persistence (odds ratios [ORs], 1.44 and 1.48, respectively; P < 0.001); while patients receiving intravenous administration showed higher compliance and persistence (ORs, 2.08 and 1.76, respectively; P < 0.001) compared with those taking oral medications. Patients placed on a quarterly dosing schedule showed improved compliance and persistence (ORs, 1.55 and 1.31, respectively; P < 0.001) compared with those on other dosing intervals. Male gender, advanced age, living outside metropolitan areas, receiving treatment in non-general hospitals, and a history of previous fractures were associated with poorer two-year adherence. Conclusion This study underscores the complex nature of medication adherence among Korean osteoporosis patients, particularly those treated with BPs. These findings accordingly indicate that medication with more convenient administration regimens and fewer side effects, coupled with suitable follow-up durations, could contribute to enhancing treatment adherence.

Background: and Purpose We aimed to determine the proportion of Korean patients with early Alzheimer’s disease (AD) who are eligible to receive lecanemab based on the United States Appropriate Use Recommendations (US AUR), and also identify the barriers to this treatment. Methods: We retrospectively enrolled 6,132 patients with amnestic mild cognitive impairment or mild amnestic dementia at 13 hospitals from June 2023 to May 2024. Among them, 2,058 patients underwent amyloid positron emission tomography (PET) and 1,199 (58.3%) of these patients were amyloid-positive on PET. We excluded 732 patients who did not undergo brain magnetic resonance imaging between June 2023 and May 2024. Finally, 467 patients were included in the present study. Results: When applying the criteria of the US AUR, approximately 50% of patients with early AD were eligible to receive lecanemab treatment. Among the 467 included patients, 36.8% did not meet the inclusion criterion of a Mini-Mental State Examination (MMSE) score of ≥22. Conclusions Eligibility for lecanemab treatment was not restricted to Korean patients with early AD except for those with an MMSE score of ≥22. The MMSE criteria should therefore be reconsidered in areas with a higher proportion of older people, who tend to have lower levels of education.

Background: Despite the necessity of long-term management for fracture risk reduction, adherence to osteoporosis pharmacotherapy remains poor. We investigated the factors influencing adherence to pharmacotherapy among Korean patients with osteoporosis, with a particular focus on treatment with bisphosphonates (BPs). Methods: Data from 725,313 osteoporosis patients newly prescribed BPs or selective estrogen receptor modulators (SERMs) between 2012 and 2014, obtained from the Korean National Health Insurance Service, were analyzed. Adherence was assessed based on compliance and persistence over a two-year period, with factors associated with adherence identified using multivariable logistic regression. Results: Only 14.8% of the patients who started BPs or SERMs sustained medication compliance, with 15.8% persisting with treatment over the two-year follow-up. Compared with BPs, patients receiving SERMs showed better compliance and persistence (odds ratios [ORs], 1.44 and 1.48, respectively; P < 0.001); while patients receiving intravenous administration showed higher compliance and persistence (ORs, 2.08 and 1.76, respectively; P < 0.001) compared with those taking oral medications. Patients placed on a quarterly dosing schedule showed improved compliance and persistence (ORs, 1.55 and 1.31, respectively; P < 0.001) compared with those on other dosing intervals. Male gender, advanced age, living outside metropolitan areas, receiving treatment in non-general hospitals, and a history of previous fractures were associated with poorer two-year adherence. Conclusion This study underscores the complex nature of medication adherence among Korean osteoporosis patients, particularly those treated with BPs. These findings accordingly indicate that medication with more convenient administration regimens and fewer side effects, coupled with suitable follow-up durations, could contribute to enhancing treatment adherence.