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.

Purpose: To develop the 2025 update to the Korean colorectal cancer (CRC) screening guidelines by systematically evaluating recent evidence, integrating domestic data, and addressing changes since the 2015 guideline revision, thereby providing an evidence-based standard for clinicians and policymakers. Methods: A multidisciplinary committee developed the guidelines using the Grading of Recommendations, Assessment, Development and Evaluation (GRADE) methodology. The process included formulation of three key questions addressing screening efficacy, diagnostic accuracy, and optimal screening age and interval. A systematic review of international guidelines and primary literature was conducted, yielding 327 eligible studies. In addition, a utility-based analysis using a Markov model was performed to determine optimal screening ages and intervals. Results: The evidence synthesis identified high-certainty evidence supporting the use of the fecal immunochemical test (FIT) for reducing CRC mortality and moderate-certainty evidence for colonoscopy. Evidence for computed tomographic colonography (CTC) and stool DNA testing was rated as very low certainty. Based on the evidence review and cost-utility analysis, the committee conditionally recommends CRC screening for asymptomatic, average-risk adults aged 45–74 years using either colonoscopy every 10 years or FIT every 1–2 years. CTC and stool DNA testing were not recommended owing to insufficient evidence. Conclusion The 2025 Korean Guidelines for Colorectal Cancer Screening present updated, evidence-based recommendations tailored to the domestic healthcare context. By conditionally endorsing both colonoscopy and FIT for individuals aged 45–74 years, these guidelines aim to improve population-level screening effectiveness and reduce the burden of CRC in South Korea.

Objective: To classify life stages for companion dogs and cats by identifying clusters in age-specific disease proportions derived from medical records, providing a data-driven foundation for health examination programs. Methods: We collected 505,667 medical records from 82 veterinary facilities in South Korea between 2020 and 2023. Diagnoses were standardized using GPT-4o and S-BioBERT. Following preprocessing, data from 27 facilities yielded 222,706 canine and 39,910 feline records for the final analysis. Principal component analysis and K-means clustering (K = 4) were applied to age-specific disease proportions to identify life stages.The 10 most highest-proportion diagnoses diseases were determined for each cluster. Results: Canine life stages were classified as ≤ 1 year, 2–5 years, 6–10 years, and 11–15+ years.Feline life stages were 1–2 years, 3–8 years, 9–12 years, and 13–15+ years. In dogs, developmental diseases were common in the youngest age group, while chronic diseases were more prevalent in older groups. In cats, oral and urinary diseases were high-ranking, conjunctivitis was most common in the early stage, and chronic diseases increased with age. Conclusions and Relevance: Age-specific diagnosis patterns support four practical life stages for dogs and cats in South Korea. These boundaries can inform evidence-based preventive examination schedules, animal health policy, and pet insurance product design.

Background: The prevalence of diabetes mellitus and early-onset dementia (EOD), defined as dementia diagnosed at an age <65 years, is increasing worldwide, with significant socioeconomic implications. We investigated the association between diabetes, prediabetes, and EOD, focusing on the influence of diabetes duration on EOD risk. Methods: Using the Korean National Health Insurance Service database, we analyzed data from 1,979,509 patients aged 40–60 years who underwent health checkups in 2009. Patients were categorized into five groups: normal, impaired fasting glucose (IFG), newly diagnosed diabetes, diabetes duration <5 years, and diabetes duration ≥5 years. Cox proportional hazard models were used to estimate the adjusted hazard ratios (aHRs) for EOD after adjusting for demographic and clinical covariates. Results: During the observation period (mean 7.75 years), 8,921 patients with EOD were identified. The diabetes group demonstrated a significantly higher incidence of EOD compared to the normal group (aHR, 1.334; 95% confidence interval [CI], 1.226 to 1.451). EOD risk increased with longer diabetes duration, with the highest risk observed in patients with diabetes ≥5 years (aHR, 1.543; 95% CI, 1.368 to 1.741). No significant difference was observed between the IFG and normal groups (aHR, 0.989; 95% CI, 0.938 to 1.043). Additionally, the hypertension group exhibited a significantly higher incidence of EOD compared to the non-hypertension group (aHR, 1.364; 95% CI, 1.291 to 1.442). Conclusion Diabetes is independently associated with increased risk of EOD, and this risk increases with longer diabetes duration. This association remained significant regardless of the presence and duration of hypertension.

Purpose: During transoral endoscopic thyroidectomy, preserving the recurrent laryngeal nerve (RLN) is a major challenge because visualization of this nerve is often obstructed by the thyroid itself, increasing the risk of serious complications.This study explores the application of an augmented reality (AR) system to facilitate easier identification of the RLN during transoral endoscopic thyroidectomy. Methods: Three patients scheduled for transoral endoscopic thyroidectomy were enrolled in this proof-of-concept study. Preoperative computed tomography scans were used to create an AR model that included the thyroid, trachea, veins, arteries, and RLN. The model was overlaid onto real-time endoscopic camera images during live surgeries.Manual registration of the AR model was performed using a customized controller. The model was aligned with surgical landmarks such as the trachea and common carotid artery. Manual registration accuracy was assessed using the Dice similarity coefficient (DSC) to evaluate the alignment between the real RLN and the RLN of the AR model. Results: The 3 patients included were female (mean age, 33.3 ± 15.7 years), and the mean tumor size was 1.0 ± 0.3 cm. All patients underwent transoral endoscopic thyroidectomy of the right lobe. Final histopathological diagnoses comprised 2 papillary thyroid carcinomas and one follicular adenoma. The manual registration accuracy was 0.60, 0.70, and 0.57 for patients 1, 2, and 3, respectively, with a mean value of 0.6 ± 0.1. Conclusion The application of an AR system during transoral endoscopic thyroidectomy proved feasible and demonstrated potential for improving the localization of anatomical structures, particularly the RLN, as indicated by a moderate DSC.

The anticancer drugs have evolved significantly, spanning molecular targeted therapeutics (MTTs), immune checkpoint inhibitors (ICIs), chimeric antigen receptor T-cell (CAR-T) therapy, and antibody-drug conjugates (ADCs). Complications associated with these drugs vary widely based on their mechanisms of action. MTTs that target angiogenesis can often lead to complications related to ischemia or endothelial damage across various organs, whereas non-anti-angiogenic MTTs present unique complications derived from their specific pharmacological actions. ICIs are predominantly associated with immunerelated adverse events, such as pneumonitis, colitis, hepatitis, thyroid disorders, hypophysitis, and sarcoid-like reactions. CAR-T therapy causes unique and severe complications including cytokine release syndrome and immune effector cell-associated neurotoxicity syndrome. ADCs tend to cause complications associated with cytotoxic payloads. A comprehensive understanding of these drug-specific toxicities, particularly using medical imaging, is essential for providing optimal patient care. Based on this knowledge, radiologists can play a pivotal role in multidisciplinary teams. Therefore, radiologists must stay up-to-date on the imaging characteristics of these complications and the mechanisms underlying novel anticancer drugs.

Objective: This study aimed to quantitatively assess abnormalities in the talar dome cartilage using MRI T2 mapping, with additional analyses based on the Lauge-Hansen (LH) classification and anatomical locations. Materials and Methods: This retrospective study analyzed 78 patients who underwent ankle MRI with T2 mapping for acute ankle trauma between January 2021 and October 2022. Patients were classified into the supination (S) and pronation (P) groups based on the LH classification, and then divided into subgroups based on posterior malleolus (PM) involvement. The T2 values for the talar cartilage were quantitatively measured in six anatomical regions defined by the combination of medial vs.lateral and anterior vs. central vs. posterior. The T2 mapping values in each region of the talus were compared between the S and P groups and between the PM and non-PM injury groups using t-tests. The T2 values were also compared between the medial and lateral sides within each group. Results: Among the 78 patients (mean age, 38.62 ± 14.82 years; 47 male), 53 and 25 were in the S and P groups, respectively, and 53 patients showed PM involvement. In comparison with the P group, the S group exhibited higher T2 values in the medial portion (61.27 ± 8.30 vs. 54.03 ± 6.96; P < 0.001) and lower T2 values in the lateral talus (54.95 ± 8.47 vs. 64.15 ± 7.31; P < 0.001). The PM injury group showed higher T2 values in the posterior region than the non-PM injury group (P ≤ 0.011). Within the PM injury group, T2 values were higher in the anteromedial and posterolateral regions than on the opposite sides (P= 0.037 and 0.011, respectively). Conclusion MRI T2 values demonstrated significant regional variations in the talar dome cartilage in acute ankle trauma, and the T2 values may reflect different ankle trauma mechanisms and PM involvement. Thus, T2 mapping can facilitate evaluation of talar cartilage alterations.

Purpose: During transoral endoscopic thyroidectomy, preserving the recurrent laryngeal nerve (RLN) is a major challenge because visualization of this nerve is often obstructed by the thyroid itself, increasing the risk of serious complications.This study explores the application of an augmented reality (AR) system to facilitate easier identification of the RLN during transoral endoscopic thyroidectomy. Methods: Three patients scheduled for transoral endoscopic thyroidectomy were enrolled in this proof-of-concept study. Preoperative computed tomography scans were used to create an AR model that included the thyroid, trachea, veins, arteries, and RLN. The model was overlaid onto real-time endoscopic camera images during live surgeries.Manual registration of the AR model was performed using a customized controller. The model was aligned with surgical landmarks such as the trachea and common carotid artery. Manual registration accuracy was assessed using the Dice similarity coefficient (DSC) to evaluate the alignment between the real RLN and the RLN of the AR model. Results: The 3 patients included were female (mean age, 33.3 ± 15.7 years), and the mean tumor size was 1.0 ± 0.3 cm. All patients underwent transoral endoscopic thyroidectomy of the right lobe. Final histopathological diagnoses comprised 2 papillary thyroid carcinomas and one follicular adenoma. The manual registration accuracy was 0.60, 0.70, and 0.57 for patients 1, 2, and 3, respectively, with a mean value of 0.6 ± 0.1. Conclusion The application of an AR system during transoral endoscopic thyroidectomy proved feasible and demonstrated potential for improving the localization of anatomical structures, particularly the RLN, as indicated by a moderate DSC.

Background: The associations between thyroid cancer and skeletal outcomes have not been thoroughly investigated. We aimed to investigate the risk of osteoporotic fractures in patients with thyroid cancer compared to that in a matched control group. Methods: This retrospective cohort study included 2,514 patients with thyroid cancer and 75,420 matched controls from the Korean National Health Insurance Service-National Sample Cohort (NHIS-NSC, 2006–2019). The rates of osteoporotic fractures were analyzed, and associations with the levothyroxine dose were evaluated. Results: Patients with thyroid cancer had a significantly lower risk of fracture than did the control group (hazard ratio [HR], 0.81; 95% confidence interval [CI], 0.69 to 0.94; P=0.006). Patients diagnosed with thyroid cancer after the age of 50 years (older cancer group) had a significantly lower risk of fracture than did those in the control group (HR, 0.72; 95% CI, 0.6 to 0.85; P<0.001), especially those diagnosed with spinal fractures (HR, 0.66; 95% CI, 0.51 to 0.85; P=0.001). Patients in the older cancer group started osteoporosis treatment earlier than did those in the control group (65.5±7.5 years vs. 67.3±7.6 years, P<0.001). Additionally, a lower dose of levothyroxine was associated with a reduced risk of fractures. Conclusion In the clinical setting, the risk of fracture in women diagnosed with thyroid cancer after the age of 50 years was lower than that in the control group, which was caused by more proactive osteoporosis treatment in postmenopausal women with thyroid cancer.

Background/Aims: We previously reported that patients with moderate-to-severe ulcerative colitis (UC) often experience common mental disorders (CMDs) such as anxiety and depression, necessitating immediate psychological interventions within the first 4 weeks of diagnosis. In this 3-year follow-up study of the MOSAIK cohort in Korea, we examined the effects of CMDs at initial diagnosis on clinical outcomes and health-related quality of life (HRQoL). Methods: We examined differences in clinical outcomes (evaluated based on clinical response, relapse, hospitalization, and medication use) and HRQoL (assessed using the Inflammatory Bowel Disease Questionnaire [IBDQ] and Short Form 12 [SF-12]) according to Hospital Anxiety and Depression Scale (HADS) scores at diagnosis. Results: In a study involving 199 UC patients, 47.7% exhibited significant psychological distress (anxiety and/or depression) at diagnosis. Clinical follow-up showed no major differences in outcomes, including remission rates, response rates, or hospitalization rates, between patients with anxiety or depression at diagnosis and patients without anxiety or depression at diagnosis. The HRQoL at the end of follow-up was notably lower in those with baseline CMDs, particularly anxiety, across all domains of the IBDQ and SF-12. Linear mixed-effect models revealed that higher HADS scores, as well as higher Mayo scores, were independently associated with lower IBDQ scores and both summary domains of the SF-12. Additionally, regular attendance at follow-up visits during the study period was also related to improvements in HRQoL (all p<0.05). Conclusions While CMDs present at the time of UC diagnosis did not influence long-term clinical outcomes, they persistently impaired HRQoL. Our findings support the routine incorporation of psychological interventions into the long-term management of moderate-to-severe UC.