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: With the aging population and advancements in medical care worldwide, the number of older patients with end-stage kidney disease continues to rise. This study aimed to identify factors associated with osteoporosis and osteopenia in older patients undergoing incident hemodialysis and assess their impact on mortality. Methods: We analyzed a large multicenter retrospective cohort of patients aged ≥70 years undergoing incident hemodialysis to identify factors associated with osteoporosis using logistic regression analysis and to assess the association of death with osteoporosis and osteopenia using Cox multivariable analysis. Results: Among 710 patients, 39.0% and 19.6% had osteoporosis and osteopenia, respectively. Osteoporosis was significantly associated with female sex, a history of fractures, and the absence of phosphate binder use. During a median follow-up of 36.8 months, 348 participants (58.8%) died. Mortality rates were the highest in the osteoporosis group (79.8%), followed by the osteopenia (77.2%) and normal bone mineral density (BMD) groups (35.2%). Cox regression analysis revealed that even after adjusting for covariates, the osteoporosis group was significantly associated with a higher mortality risk than the normal BMD group. Osteoporosis at the start of hemodialysis was significantly associated with higher mortality. Conclusion We should consider the importance of bone health in patients undergoing incident hemodialysis and pay attention to the use of phosphate binders and fracture prevention.

Background: Obesity is a well-known risk factor for chronic kidney disease and its progression. However, the impact of obesity on the renal function of the elderly population is uncertain. We investigated the association between obesity and renal outcomes in the elderly. Methods: We analyzed 130,504 participants from the Korean National Health Insurance Service-Senior cohort. Obesity was classified according to body mass index (BMI), sex-specific waist circumference (WC), and the presence of metabolic syndrome. The primary outcome was renal function decline, defined as a decline in the estimated glomerular filtration rate (eGFR) of at least 50% from baseline or new-onset end-stage renal disease. Results: During a follow-up period of 559,531.1 person-years (median, 4.3 years), 2,486 participants (19.0%; incidence rate of 4.44 per 1,000 person-years) showed renal function decline. A multivariate Cox proportional hazards model revealed that BMI/WC was not associated with renal function decline. However, the group with metabolic syndrome had a significantly increased risk of renal function decline compared to the group without metabolic syndrome (adjusted hazard ratio [HR], 1.24; 95% confidence interval [CI], 1.13–1.36). Compared with the non-metabolic syndrome group, the adjusted HRs (95% CI) for participants with one through five components were 0.96 (0.84–1.11), 1.10 (0.96–1.27), 1.24 (1.06–1.45), 1.37 (1.12–1.66), and 1.99 (1.42–2.79), respectively (p for trend < 0.001). Conclusion In elderly Korean adults, metabolic syndrome and the number of its components were associated with a higher risk of renal function decline, but BMI or WC was not significant.

Objective: : To investigate the clinical and radiological features of unruptured vertebral artery dissecting aneurysms (uVADAs) treated with reconstructive endovascular techniques and to evaluate the risk factors associated with unfavorable radiological outcomes while focusing on the flow diversion effect. Methods: : We retrospectively reviewed 86 patients with uVADAs treated at a single tertiary center between January 2009 and December 2022. The patients were categorized into the flow diversion group (patients with uVADAs treated with a flow diverter or multiple stents) and the non-flow diversion group (patients with one or fewer stent insertion). Unfavorable angiographic outcomes were defined as 1) recurrence after coil insertion regardless of stent deployment or 2) no regression after stent insertion without coil packing. Univariate and multivariate analyses were performed to assess the related risk factors. Results: : We observed 37 uVADAs in the flow diversion group. Recurrence or no regression occurred in two of 37 (9.1%) and 13 of 49 (27.7%) uVADAs in the flow and non-flow diversion groups, respectively. The treatment without flow diversion effect (non-flow diversion group; odds ratio [OR], 8.04; 95% confidence interval [CI], 1.23–52.57; p=0.003) and hypertension (OR, 22.09; 95% CI, 2.51–194.2; p=0.005) were significantly associated with unfavorable angiographic outcomes. Conclusion : The flow diversion effect using a flow diverter or multiple stents insertion, along with strict blood pressure control, may be an important factor in achieving favorable angiographic outcomes in uVADA treatment.

Purpose: Hereditary spastic paraplegia (HSP) refers to a group of genetic neurodegenerative diseases marked by gradually worsening spasticity and hyperreflexia in the lower extremities. This study aimed to describe the clinical and genetic characteristics of Korean patients with spastic paraplegia. Materials and Methods: We retrospectively reviewed medical records of 69 patients with spastic paraplegia from 54 unrelated families between 2002 and 2024. Genetic, clinical, electrophysiological, and radiological features were comprehensively analyzed. Results: Causative genes were identified in 34 (63%) of 54 unrelated families; SPAST, detected in 26 families, was the most prevalent. Seven novel pathogenic variants were identified. Clinically, the median age of symptom onset was 25 years [14.0–37.0]. Out of 69 patients with spastic paraplegia, 51 (74%) presented with the pure form of spastic paraplegia, which included all patients with SPG4. Spastic gait was a universal feature in all patients. Urinary dysfunction was present in 42 (61%) patients. Additional neurologic manifestations included peripheral neuropathy 9 (13%), cognitive impairment 5 (7%), upper limb weakness 4 (6%), dysarthria 4 (6%), dysphagia 3 (4%), ataxia 3 (4%), and scoliosis 1 (3%). Brain MRI findings demonstrated a thin corpus callosum in two patients with SPG11; all patients with SPG4 had normal findings. Spine MRI revealed spinal cord atrophy in 16 (27%) patients, including 6 (21%) patients with SPG4. Conclusion The study comprehensively reviewed genetic and clinical spectra of spastic paraplegia in Korean patients, emphasizing the predominance of SPAST as the causative gene and underscoring the genetic and phenotypic heterogeneity of spastic paraplegia.

OBJECTIVES: This study aimed to evaluate a fixed-duration algorithm for gestational age (GA) estimation according to pregnancy outcomes and to describe the GA distribution of pregnancy-related codes in Korea. METHODS: We included 351,055 pregnancy episodes (2019–2022) from linked data between the National Health Insurance Service and the Korea Immunization Registry Information System (KIRIS). GA from claims data was estimated by subtracting fixed durations from the delivery date (algorithm-based GA), and GA derived from KIRIS was defined as the gold standard. Accuracy was evaluated as the proportion of episodes in which the difference between the estimated GA and the reference standard fell within ±2 weeks. We described the distributions of the GA at which each prenatal test, pregnancy complication, and diagnostic code was recorded. RESULTS: Algorithm-based GA estimation showed high accuracy for live births (92.2% within ±2 weeks) but markedly lower accuracy for non-live birth outcomes, including stillbirth (3.3%), termination (7.2%), spontaneous abortion (45.2%), and ectopic pregnancy (20.0%). In additional analyses aimed at identifying potential indicators for improving GA estimation, most events occurred within clinically expected timeframes, although some individual codes exhibited poor temporal alignment. CONCLUSIONS Algorithm-based GA estimation using claims data performed well for live births but demonstrated limited accuracy for non-live birth outcomes. Incorporating information from prenatal tests and pregnancy complications may enhance GA estimation.

Background and Objectives: Clinical characteristics and outcomes in acute heart failure (AHF) vary by phenotype. We assessed phenotype-specific features, treatment patterns, and outcomes in a nationwide Korean cohort. Methods: The Korean Heart Failure III registry prospectively enrolled 7,351 AHF admissions at 47 hospitals. Among 6,777 patients with available left ventricular ejection fraction (EF), phenotypes were defined as heart failure with reduced EF (HFrEF, ≤40%), mildly reduced EF (HFmrEF,41–49%), or preserved EF (HFpEF, ≥50%). The primary endpoint was a 12-month composite of all-cause death or heart transplantation, evaluated from index admission and, among hospital survivors, from discharge. We used inverse probability weighting (multinomial generalized boosted models with stabilized, trimmed weights) and weighted Cox proportional-hazards models to estimate hazard ratios (HRs). Results: Phenotype distribution was 58.9% HFrEF, 13.6% HFmrEF, and 27.5% HFpEF. Crude 12-month composite rates from index admission were 13.4% (HFrEF), 12.7% (HFmrEF), and 16.8% (HFpEF). After weighting, from index admission, HFmrEF (HR, 0.892; 95% confidence interval [CI], 0.731–1.088) and HFpEF (HR, 1.101; 95% CI, 0.939–1.291) did not differ from HFrEF; from discharge, HFpEF had modestly higher risk (HR, 1.207; 95% CI, 1.008–1.445) whereas HFmrEF did not (HR, 1.039; 95% CI, 0.844–1.279). Hyponatremia and chronic kidney disease were consistent adverse markers, while angiotensin-converting enzyme inhibitor/ angiotensin II receptor blocker use at discharge was protective. Conclusions Across the EF spectrum, phenotypes showed distinct profiles and risk. Postdischarge risk was modestly higher in HFpEF, supporting phenotype-tailored care and systematic discharge optimization in Korean patients with AHF.

In patients with differentiated thyroid cancer (DTC), initial recurrence risk stratification based on clinical, histopathological, and perioperative data remains the key determinant for guiding management strategies during the first 1-2 years post-treatment. However, the adoption of ongoing risk stratification (ORS), which dynamically reassesses risk by integrating longitudinal clinical data and treatment response, enables more precise long-term prognostic assessment and facilitates highly individualized management. Building upon recent guidelines, the 2026 KTA guideline has been further refined by incorporating robust evidence from large-scale national cohorts and comprehensive systematic reviews. These updated recommendations outline contemporary concepts of ORS, risk-adapted TSH suppression targets, optimized surveillance modalities for recurrence detection, and disease-specific long-term follow-up strategies. Reflecting the paradigm shift toward de-escalated treatment, this revision integrates evolved perspectives on TSH suppression intensity, the clinical interpretation of thyroglobulin levels, and tailored follow-up intervals. These evidence-based recommendations aim to minimize unnecessary treatment and excessive surveillance in the large proportion of patients with excellent prognosis after initial therapy, while ensuring that each patient receives appropriately tailored and effective long-term management.

Objective: We aimed to investigate the predictors of aneurysm occlusion following flow diversion treatment for unruptured intracranial aneurysms (UIA) using the Surpass Evolve (SE) stent. Methods: The radiological and clinical outcomes of UIAs treated using SE stent at a single tertiary hospital were reviewed retrospectively. We categorized radiological outcome into the poor (O’Kelly-Marotta [OKM] grade A-B) and favorable occlusion group (OKM grade C-D). Univariate and multivariate analyses were conducted to identify risk factors associated with poor occlusion. Results: A total of 68 unruptured intracranial aneurysms in 52 patients were treated in our institution from December 2019 to July 2024. At last radiological follow-up (mean 17.5±10.1 months), the overall favorable occlusion rate was 79.4% (n=52). Multivariate analysis showed larger aneurysm (p=0.011, OR=0.89, 95% CI [0.81-0.98]) and presence of incorporated branch (p=0.007, OR=8.26, 95% CI [1.78-38.28]) were associated with independent factors for poor occlusion, respectively. Procedural mortality and morbidity were 0% (n=0) and 1.9% (n=1). One patient presented with delayed ischemic stroke (1.9%, n=1) without permanent neurological deficit. Conclusions Treatment for UIAs using the Surpass Evolve flow-diverting stent might be feasible for efficacy and safety. In this study, larger size of aneurysm and branch incorporated aneurysm were associated with poor occlusion after flow-diversion using SE stent.

Purpose: This study aimed to develop pilot clinical skills assessment (CSA) modules for Korean medicine-specific procedures and to examine their preliminary appropriateness, perceived necessity, and feasibility as a foundation for future licensing-related assessment development. Methods: A participatory action research framework, supplemented by qualitative interviews, was used to develop 4 CSA modules—acupuncture, Chuna manual therapy, pulse diagnosis, and constitutional diagnosis—in collaboration with expert evaluators, students, and standardized patients. The modules were implemented as formative examinations for third-year Korean medicine students, after which semi-structured interviews were conducted to obtain feedback on module content, implementation processes, and scoring procedures. Each module was also reviewed using the RUMBA checklist (Realistic, Understandable, Measurable, Behavioral, and Achievable), together with ratings of perceived necessity and feasibility for possible future use in licensing-related assessment. Interview data were analyzed inductively at the level of individual responses and then compared across modules and participant groups. Results: Qualitative analysis yielded 3 themes: content and scoring criteria, physical environment or simulators, and education or training. Participants emphasized the need to make key aspects of performance more observable, improve authenticity through simulators or task trainers, and strengthen the capacity of scoring systems to distinguish between levels of student performance. Across all modules, mean RUMBA scores were high in the understandable, behavioral, and achievable domains, whereas measurability was more problematic, especially for pulse diagnosis. Conclusion These pilot findings clarify both the strengths and the limitations of Korean medicine-specific CSA modules. The modules received favorable ratings for understandability and achievability, whereas lower ratings for measurability and realism identified priorities for refinement before wider use. This study provides preliminary guidance for the continued development and broader evaluation of Korean medicine-specific performance assessments.