Background: and Purpose To compare the epidemiological and clinical features of the rare patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) with age- and sex-matched controls in a nationwide cohort from South Korea. Methods: This observational cohort study analyzed newly diagnosed CADASIL patients aged at least 20 years and matched controls using data from the National Health Information Database for 2004–2022. The cumulative incidence of CADASIL was assessed by age and sex, and compared between regions. Neurologic and systemic diseases were compared between the CADASIL and control groups. Results: The study analyzed 816 CADASIL patients and 816 age- and sex-matched controls aged 56.8±15.2 years (mean±standard deviation), among whom 48.3% were male. The cumulative incidence of CADASIL was 1.86 per 100,000 people (95% confidence interval [CI]=1.85– 1.87 per 100,000), and peaked at 60–69 years of age. In terms of regional distribution, the incidence was highest for Jeju, at 39.67 per 100,000 (95% CI 37.84–41.49 per 100,000). Neurologic diseases were more frequent in CADASIL patients, including Alzheimer’s disease (33.1% vs.20.0%), vascular dementia (84.9% vs. 5.0%), epilepsy (34.6% vs. 15.9%), stroke (70.7% vs. 27.6%), parkinsonism (18.9% vs. 11.0%), and depression (60.8% vs. 44.9%). Systemic diseases such as diabetes mellitus (78.9% vs. 68.9%) were also more common in CADASIL patients, while cancer (27.9% vs. 38.7%) and myocardial infarction (10.0% vs. 13.6%) were less common than in controls. The onset ages of all diseases were lower in CADASIL patients. Conclusions This study has provided a precise nationwide estimate of the CADASIL incidence and its regional distribution in South Korea. CADASIL patients showed higher incidence rates and earlier onsets of diverse clinical manifestations.

Objective: The NOD-like receptor family pyrin domain-containing 3 (NLRP3) inflammasome has been proposed to be a downstream mediator of neuroinflammation in individuals with Parkinson’s disease (PD). However, its involvement across disease stages and related synucleinopathies, such as multiple system atrophy (MSA), remains unclear. We aimed to analyze the peripheral mRNA expression of NLRP3-related genes and cytokines across individuals with isolated REM sleep behavior disorder (iRBD), early-stage PD, late-stage PD, and MSA. Methods: Peripheral blood mononuclear cells (PBMCs) were collected from 151 participants: 35 healthy controls (HCs), 31 patients with iRBD, 41 patients with early-stage PD, 21 patients with late-stage PD, and 23 patients with MSA. mRNA expression was measured using quantitative real-time polymerase chain reaction. Statistical comparisons were performed using analysis of variance (ANOVA) or Welch’s ANOVA, and associations with clinical variables were analyzed through stepwise multiple linear regression. Results: NLRP3 expression was significantly lower in patients with iRBD (p=0.0263) and patients with early-stage PD (p= 0.0101) than in HCs. NIMA-related kinase 7 (NEK7) expression progressively decreased across the disease spectrum (HCs vs. patients with early-stage PD, p=0.0008; vs. patients with late-stage PD, p<0.0001). In contrast, apoptosis-associated speck-like protein containing a caspase recruitment domain (ASC) and caspase-1 were elevated in patients with PD, especially those in the late stages. Levels of patients with MSA resembled those of HCs but differed from those of patients with PD. Interleukin (IL)-1β and IL-18 levels were not significantly different. In patients with early-stage PD, NLRP3 expression was negatively correlated with disease duration, the Movement Disorder Society-Unified Parkinson’s Disease Rating Scale Part II score, and the cognitive score. Conclusion Our findings challenge the prevailing hypothesis that NLRP3 inflammasome activation directly contributes to PD pathogenesis. Instead, the observed increase in ASC and caspase-1 expression suggests the potential involvement of alternative inflammasome pathways during disease progression.

Intradiscal electrothermal therapy (IDET) is a minimally invasive procedure used to treat discogenic back pain and offers an alternative to surgical intervention in selected patients. Although it is generally considered safe, rare but significant complications can occur and may be difficult to diagnose because their symptoms overlap with those of other spinal conditions. We describe the case of a 69-year-old woman who presented with severe lower back and left buttock pain that was unresponsive to conservative treatment. Magnetic resonance imaging revealed disc bulging with a high-intensity zone at the L4–5 and L5–S1 levels. IDET was performed at the L4–5 level, resulting in initial pain relief. However, the patient returned 7 days later with recurrent pain. Despite undergoing percutaneous epidural neuroplasty at the left L5–S1 level, a medial branch block, and a piriformis muscle block, her symptoms persisted. Further evaluation with spinal computed tomography revealed a retroperitoneal hematoma near the left psoas muscle. Referred pain from the hematoma mimicked discogenic pain, resulting in delayed diagnosis and unnecessary interventions. The patient remained hemodynamically stable and gradually improved with conservative management alone. This case highlights retroperitoneal hematoma as a rare complication of IDET and emphasizes the importance of accurate and timely diagnosis in patients with persistent or worsening symptoms after spinal procedures. Clinicians should consider non-discogenic sources of pain when treatment outcomes deviate from expected patterns.

Background/Aims: Biliary tract cancer (BTC) is a rare malignancy with poor prognosis. We investigated genomic determinants of clinical benefit from gemcitabine, cisplatin, and nab-paclitaxel (GAP) versus gemcitabine and cisplatin (GC) in advanced BTC. Methods: Clinical and genomic data using TruSight Oncology 500 were analyzed from patients treated with GAP (N=198) or GC (N=89) as first-line therapy. Results: With a median follow-up of 33.0 months, GAP modestly improved progression-free survival (PFS) (hazard ratio [HR] 0.764; 95% confidence interval [CI] 0.591–0.989) without significant overall survival (OS) difference compared to GC. Genomic profiling revealed frequent alterations in TP53 (35.2%), KRAS (16.4%), SMAD4 (10.5%), and TNFRSF14 (10.5%), involving RTK/RAS (44.3%), TP53 (41.8%), and PI3K (20.2%) pathways. Single-gene mutations did not predict treatment benefit. However, pathway-level analysis identified PI3K pathway activation as significantly associated with inferior PFS (HR 2.148; 95% CI 1.478–3.124) and OS (HR 2.096; 95% CI 1.413–3.109) in patients receiving GAP, an effect not observed with GC. Importantly, GAP conferred clinical benefit only in patients without PI3K pathway activation, while no survival advantage was seen in those with such alterations (Pinteraction=0.023 for PFS, Pinteraction=0.003 for OS). Similar results were obtained in the independent validation cohort treated with GAP (N=103) or GC (N=64) for BTC. Conclusions Genomic profiling using next-generation sequencing identified PI3K pathway activation as key molecular determinant that differentiates patient outcomes between GAP and GC treatments in advanced BTC.

OBJECTIVES: Individuals with disabilities are at greater risk of hospitalization than the general population. We examined 10-year trends in potentially preventable hospitalizations (PPH) in Korea, comparing individuals with and without disabilities and assessing age-specific patterns. METHODS: Using National Health Information Database claims data (2010–2019), we established a fixed cohort of newly registered individuals with disabilities and control subjects statistically matched (1:1.5) at baseline. Annual PPH rates among patients with each condition were calculated and age- and sex-standardized according to Organization for Economic Cooperation and Development Health Care Quality Indicators definitions. Trends and annual percent changes (APCs) were analyzed by disability status and age group (non-older: 30–64; older adults: ≥65 years). RESULTS: Between 2010 and 2019, PPH rates declined significantly in both groups. Among individuals with disabilities, the steepest decline was observed for hypertension (APC, −15.7%; 95% confidence interval [CI], −17.7 to −13.7), whereas congestive heart failure showed the largest reduction among individuals without disabilities (APC, −7.8%; 95% CI, −10.8 to −4.7). Declines were generally greater among non-older adults aged 30–64 years, regardless of disability status. The disparity between disability and non-disability groups narrowed over the decade, primarily due to larger improvements among non-older adults. Older adults with disabilities consistently exhibited the highest PPH rates for most conditions, whereas younger individuals with disabilities had the highest rates for diabetes. CONCLUSIONS PPH rates declined over the decade among both individuals with and without disabilities, particularly for hypertension and among non-older adults. However, older adults with disabilities remain at elevated risk, underscoring the need for targeted strategies to improve access to community-based primary care.

Background and Objectives: Primary prevention (PP) implantable cardioverter-defibrillator (ICD) therapy for ischemic cardiomyopathy (ICM) is underused in Asian countries, including South Korea. Both clinical and hospital factors may influence appropriate ICD use. We evaluated whether determinants of PP ICD implantation differ by hospital implantation volume. Methods: In this prospective, multicenter observational registry (blinded for review), patients eligible for PP ICD were enrolled. Factors associated with ICD implantation—clinical characteristics and hospital-level systems—were examined across 4 large-volume hospitals (≥ 15 implants during the study) and 12 small-volume hospitals (< 15). Multivariable logistic regression identified independent predictors. Results: Among 3,083 ICM patients (2,403 men; median age 70 years), PP ICD implantation rates were 10.8% in large-volume and 5.7% in small-volume hospitals. Across groups, male sex and chronic kidney disease independently predicted ICD implantation. Regarding hospital factors, non-monetary incentives for referral were the sole independent predictor in large-volume centers (odds ratio [OR], 3.55; 95% confidence interval [CI], 2.07–6.10;P < 0.001). In small-volume centers, heart failure conferences (OR, 12.73; 95% CI, 1.72–94.37;P = 0.013), structured education systems (OR, 11.72; 95% CI, 2.45–56.12; P = 0.02), and pacemaker clinics (OR, 11.4; 95% CI, 2.24–58.39; P = 0.003) were independently associated with implantation. Conclusions Clinical predictors of PP ICD use were consistent across hospital volumes, but hospital-level determinants differed. Referral incentives characterized large-volume centers, whereas conferences, education systems, and pacemaker clinics were key in smallvolume centers. Tailored institutional strategies by hospital volume may help close the PP ICD underuse gap and improve evidence-based implementation.

Background: Dual energy X-ray absorptiometry (DXA) measurements vary among instruments from different manufacturers. This study aimed to assess the correlation between bone mineral density (BMD) and body composition measured by the GE Lunar Prodigy and Hologic Horizon W DXA systems and to develop conversion equations. Methods: A total of 120 healthy volunteers (59 males, 61 females) aged 20 to 70 years were scanned on both DXA systems on the same day. BMD was measured at the lumbar spine (L1-L4) and bilateral femurs. Body composition parameters were measured for the whole body and regional sites. Bland-Altman analysis, Pearson correlation, and concordance correlation coefficient (CCC) were used to assess agreement. Linear regression was performed to derive conversion equations. Results: The Hologic system measured BMD values 14% to 20% lower at the lumbar spine and 8% to 17% lower at femoral sites compared to the GE Lunar system (all P<0.0001). Lean mass values were 4% to 10% lower on the Hologic system. Very strong correlations were observed for both BMD (r=0.944-0.980) and lean mass (r=0.963-0.984). Cross-calibration equations were developed for all measurement sites. Conclusions Despite significant systematic differences, there was very high correlation between the two DXA systems. The conversion equations can facilitate comparison of measurements between these systems in clinical practice and research.

Purpose: Based on the KEYNOTE-522 study, neoadjuvant pembrolizumab plus chemotherapy has become the standard treatment for early-stage triple-negative breast cancer (TNBC).This study evaluated the real-world efficacy, safety, and predictors of pathologic complete response (pCR) in Korean patients. Methods: We conducted a retrospective cohort study of 174 patients with early-stage TNBC who received the KEYNOTE-522 regimen (neoadjuvant pembrolizumab plus paclitaxel and carboplatin, followed by doxorubicin and cyclophosphamide) at a tertiary cancer center between August 2022 and July 2024. We assessed the primary endpoints, including pCR rate and event-free survival (EFS). We performed univariable and multivariable logistic regression analyses to identify independent predictors of pCR. Results: The median patient age was 50 years (range, 24–74 years). The clinical stages were II and III in 79.3% and 20.1% of patients, respectively, and 10.9% had clinical N3 disease. The overall pCR rate was 62.1%, and the N3 subgroup had a pCR rate of 47.4%. On multivariable analysis, high baseline Ki-67 expression (≥ median, 75%) was significantly associated with pCR (odds ratio, 2.84; 95% confidence interval, 1.45 to 5.66; p = 0.002). At a median followup of 18.4 months, the 12-month EFS rate was 97.4%, with significantly superior outcomes observed in patients who achieved pCR compared with those who did not achieve pCR (100% vs. 93.1%, p = 0.007). The treatment completion rate was 92.0%, and immune-related adverse events occurred in 13.8% of patients. Conclusion In this real-world analysis of one of the largest Asian cohorts of patients with earlystage TNBC treated with neoadjuvant pembrolizumab, the KEYNOTE-522 regimen demonstrated substantial efficacy and manageable toxicity, consistent with the original trial findings.

Purpose: This study evaluated the clinical outcomes and prognostic factors in patients with borderline resectable pancreatic cancer (BRPC) and locally advanced pancreatic cancer (LAPC) treated with upfront FOLFIRINOX followed by local-regional therapy (LRT), surgical resection (SR), and radiotherapy (RT). We aimed to identify specific patient subgroups for which RT may serve as a reasonable alternative to SR for local tumor control. Methods: We retrospectively analyzed 116 patients (SR group, n= 70; RT group, n= 46) at a single center between 2015 and 2020. Survival outcomes were compared based on LRT modalities, focusing on identifying subgroups in which RT provided an efficacy comparable to that of SR. Results: Among 116 patients, the SR group achieved a significantly higher 5-year overall survival (OS) than the RT group (27.1% vs. 8.7%, P< 0.0001), despite similar progression-free survival (P= 0.23). Significant prognostic factors for OS included carbohydrate antigen 19-9 (CA19-9) response in BRPC (P= 0.02) and radiologic partial response in LAPC (P= 0.05). Subgroup analysis revealed that, while SR provided a survival advantage in CA19-9 responders, no significant difference in OS was observed between SR and RT in CA19-9 non-responders (P= 0.37). Conclusion Although surgery remains the gold standard, RT may be considered a justifiable local alternative for CA19-9 non-responders and surgically ineligible patients with LAPC, yielding comparable outcomes in these specific, biologically unfavorable subgroups.

Objectives: Endoscopic submucosal dissection (ESD) has become a standard minimally invasive treatment for selected patients with early gastric cancer (EGC). This study presents the first nationwide survey of patients with EGC treated with ESD in 2023, conducted by the Korean College of Helicobacter and Upper Gastrointestinal Research. Methods: Data were retrospectively collected from participating referral centers across Korea using a standardized case report form covering patient characteristics, tumor features, procedural details, histopathological findings, and clinical outcomes. Descriptive and comparative analyses were conducted to summarize nationwide ESD practice patterns and outcomes. Results: Data from 5460 ESD cases from 5250 patients across 27 institutions were analyzed. The mean age was 67.4 years, with 74.1% males. Multiple synchronous lesions were identified in 3.7%. Most lesions were located in the lower third of the stomach (64.0%), and differentiated-type adenocarcinomas accounted for 87.8%. The en bloc and complete resection rates were 99.2% and 91.4%, respectively. Curative resection was achieved in 80.5%, whereas local non-curative resection (L-NCR) and surgical non-curative resection (S-NCR) were identified in 2.8% and 16.7%, respectively. Additional surgery was performed more frequently in patients with S-NCR than in those with L-NCR (59.3% vs. 24.7%). The bleeding and perforation rates were 3.6% and 0.9%, respectively, and were mostly managed conservatively or endoscopically. The median length of hospitalization was 4.0 days. Conclusions This first nationwide survey provides a comprehensive overview of the current practice of EGC treatment using ESD in Korea, demonstrating high technical success and safety, and establishing a baseline dataset for future longitudinal research.