Autoimmune hemolytic anemia (AIHA) is a rare immune-mediated disorder in children that can present as primary or secondary to other diseases. Here, we report an unusual case of steroid-refractory warm AIHA in an 11-year-old girl whose condition was ultimately cured after removal of a benign ovarian tumor. Despite receiving multiple lines of therapy—including corticosteroids, rituximab, cyclosporine, sirolimus, and mycophenolate mofetil—the patient experienced recurrent hemolysis and steroid dependence for nearly four years. Abdominopelvic imaging performed to evaluate fever revealed bilateral ovarian cystic lesions, including a left-sided dermoid cyst. Surgical resection of the tumor led to complete and sustained hematologic remission, with normalization of hemoglobin, bilirubin, and reticulocyte counts, allowing discontinuation of all immunosuppressive agents. No recurrence of hemolysis was observed during 18 months of follow-up. This case highlights the potential for benign ovarian tumors to act as a rare secondary cause of AIHA through paraneoplastic or immune cross-reactive mechanisms. Awareness of such associations is crucial when evaluating pediatric patients with refractory or relapsing AIHA, as identification and removal of an occult tumor may achieve definitive resolution of hemolysis and avoid long-term immunosuppression.

Background: The conventional magnetic resonance imaging (MRI) grading system for foraminal stenosis (FS), known as the Lee classification, was introduced in 2010 and is widely utilized in clinical practice. Previous studies have reported that the conventional grading system for FS lacks prediction ability for surgical treatment. The purpose of this study was to develop a novel MRI grading system for lumbar FS with improved prediction ability for surgical treatment by incorporating facet effusion to indicate segmental instability. Methods: We retrospectively reviewed patients diagnosed with lumbar FS between 2011 and 2017 who had a follow-up period of at least 5 years. The FS severity was assessed using a conventional MRI grading system developed by Lee et al. We recorded whether the patient underwent surgical treatment for FS during the follow-up period and the time from the initial diagnosis to surgery. Survival analysis using a Kaplan-Meier curve and log-rank test was performed to verify the impact of FS severity on the surgical treatment. We performed additional survival analysis after modifying the grading system by incorporating the presence of excessive facet joint effusion assessed using axial MRI. We also compared the discrimination ability of the modified and conventional grading systems using Uno’s concordance index (C-index). Results: In total, 235 patients with a mean age of 63.7 years were included in this study. During the mean follow-up period of 8.1 years, 63 patients underwent surgical treatment for FS. The conventional grading system revealed no significant difference in survival between the grade 2 and 3 groups (p = 0.104). Conversely, the modified grading system revealed a significant difference in survival between the new grade 2 and 3 groups (p < 0.001). After modification, the discrimination ability, assessed using Uno’s Cindex, significantly improved from 0.69 to 0.73. Conclusions The Facet Effusion-Incorporating Grading System, which adds excessive facet joint effusion to the conventional MRI grading framework, demonstrated improved predictive value for surgical treatment and better discriminatory ability compared with the original system.

Background: and Purpose: Clinicians typically use 2 methods to determine impairment in a specific cognitive domain based on the Seoul Neuropsychological Screening Battery, 2nd Edition: (1) identifying impairment when one or more subtests fall below the normal range (< mean −1.5 standard deviation), and (2) using the cognitive domain score. Because agreement between these methods may differ by the severity of cognitive impairment, this study examined their concordance in the overall sample and across Clinical Dementia Rating (CDR) levels. Methods: A total of 1,086 patients (age 74.27±9.62 years; education 9.07±4.77 years) were included. Concordance between subtest-based and domain score-based classifications was assessed for each cognitive domain using cross-tabulation analyses and Cohen’s kappa statistics. To assess the influence of the severity of cognitive impairment, analyses were conducted across CDR levels. Results: When impairment was defined as having at least one abnormal subtest, concordance rates were 90.8% for Attention, 88.8% for Language, 84.6% for Visuospatial Function, 74.3% for Memory, and 73.6% for Frontal/Executive Function. In the Frontal/ Executive Function domain, requiring 2 or more abnormal subtests increased concordance to 90.9%. CDR subgroup analyses showed that Memory concordance was particularly low in the CDR 0.5 group (65.8%) compared with the CDR 1 (85.5%) and CDR 2 (98.5%) groups. Conclusions Concordance between the 2 classification methods was moderately high for Attention, Language, and Visuospatial Function but substantially lower for Memory and Frontal/Executive Function, especially in individuals with mild cognitive impairment. These findings highlight the need to consider both subtest-level performance and domain scores when determining impairment in memory or frontal/executive function.

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/Aims: Recent advances in computer-aided diagnosis (CADx) systems have demonstrated expert-level accuracy in the optical diagnosis of colorectal polyps. High-confidence (HC) diagnoses have been defined as those made within 3 seconds without hesitation, and these systems have been shown to improve diagnostic accuracy. We aimed to evaluate the performance of endoscopists with varying levels of experience in diagnosing colorectal polyps with the assistance of a new CADx system applying the 3-second rule and without artificial intelligence assistance. Methods: In this multicenter ex vivo study, 35 endoscopists assessed 100 polyps (51 adenomas, 39 hyperplastic polyps, 10 sessile serrated lesions) using narrow-band imaging video clips on an online platform. Assessments consisted of individual endoscopist diagnosis and CADx-assisted diagnosis. HC assignments followed the 3-second rule in both phases. Performance metrics included HC accuracy, HC rate, and adherence to the Preservation and Incorporation of Valuable Endoscopic Innovations (PIVI) and Simple Optical Diagnosis Accuracy (SODA) thresholds. Results: HC diagnostic accuracy improved from 78.3% (95% confidence interval [CI], 76.6% to 80.0%) to 89.8% (95% CI, 88.6% to 90.9%) with CADx assistance (p<0.001). The proportion of HC predictions increased from 64.2% to 75.4% (p<0.001). Novice endoscopists showed marked improvement with CADx (74.1% vs 88.8%; p<0.001). CADx-assisted diagnoses nearly met SODA and PIVI thresholds under the 3-second rule. Additional analysis demonstrated that CADx assistance significantly improved interobserver agreement and ground truth, particularly for novices (κ=0.37 to κ=0.65; p<0.001). Conclusions Integrating CADx with the 3-second rule significantly enhances the performance of endoscopists in the optical diagnosis of colorectal polyps, with the greatest benefit observed among novice endoscopists.

Background: and Purpose Whole-exome sequencing (WES) is a valuable tool for identifying causative mutations in adult moyamoya disease (MMD), thereby advancing our understanding of the genetic mechanisms underlying this condition. Here, we conducted the first WESbased association study aimed at identifying genetic modifiers implicated in MMD. Methods: This WES study involved 160 patients with MMD and 189 controls from a multicenter hospital-based biobank, and evaluated combined annotation-dependent depletion (CADD) scores. Mutant-allele frequencies were compared in 369,121 individuals derived from the UK Biobank (UKB) WES. Mutant-allele risk scores (MARSs) were created based on WESidentified mutations. Gene-based association analyses and pooled analyses in East-Asian populations were further performed. Results: Fourteen mutations reached the genome-wide significance criterion (p<5×10-8 ), among which the p.R4810K mutation in the ring finger protein 213 gene (RNF213) showed the strongest significance (odds ratio=117.4, p=8.54×10-24 ). Notably, two mutations—p.G576S (alpha-glucosidase [GAA]) and p.D54N (charged multivesicular body protein 6 [CHMP6])— exhibited high CADD scores of 32 and 25, respectively, whereas the RNF213 p.R4810K mutation demonstrated a moderate deleteriousness score of 10.63. Fourteen mutations exhibited significant differences in allele frequencies between patients and UKB controlled data (p<1×10-8 ).The MARS9 model (incorporating nine missense mutations) showed better predictability for MMD (90.89%). The analysis of gene-based associations revealed four candidate genes: GAA, RNF213, CHMP6, and CARD14 (p=5×10-19 to 4×10-7 ). The subsequent pooled analyses validated four mutations in East Asian populations: p.V1195M, p.D1331G, p.S2334N, and p.R4810K (p<3×10-8 ). Conclusions This pioneering study has corroborated the significance of p.R4810K and identified several causative mutations predisposing patients to MMD, which helps to improve the understanding of its polygenetic nature.

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.

Purpose: Periprosthetic joint infections (PJIs) resulting from total hip arthroplasty (THA) pose significant challenges. Partial two-stage exchange arthroplasty (TSEA) retains either the femoral stem or acetabular cup by preserving bone stock and soft tissue and offers a potential alternative to total TSEA. Our meta-analysis evaluated the pooled success rate of partial TSEA in treating late chronic PJIs in THA. Our study also focused on the outcomes associated with retained prosthetic implant (stem or cup) and the type of prior surgery (primary vs. revision arthroplasty) performed. Materials and Methods: We analyzed data from 355 hips of patients with PJI following THA across 11 studies using a random-effects model to estimate the success rate of partial TSEA and spacer dislocation that occurs during the interval between the first and second stages of partial TSEA. The heterogeneity between the subgroups was also calculated. Results: The overall pooled success rate of partial TSEA in the study cohort was 87% (95% confidence interval [CI] 83-91).Lacking statistical significance (P=0.904), the success rates were 88% for stem-retained and 90% for cup-retained implant cases. The partial TSEA success rates were 88% for primary arthroplasty and 80% for revision arthroplasty, although this was not statistically significant (P=0.193). Spacer dislocation occurred in only 5% of the cases (95% CI 1-9). Conclusion Partial TSEA achieves high success rates comparable to those of total TSEA. Although revision arthroplasty cases carry a high risk of recurrence, partial TSEA remains a viable, tailored treatment option with a low complication rate.

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: This study aimed to develop a reliable and valid Mixed State Severity Index (MSSI) to assess mood instability in patients with mood disorders and determine cutoff scores. Methods: Twenty-one items were selected based on Koukopoulos’ criteria for mixed depressive episode, historically referred to as agitated depression, and Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition, Text Revision mixed features criteria. The MSSI was administered to 242 patients (major depressive disorder [n=92], bipolar disorder [BD] I [n=78], and BD II [n=72]) and 726 controls. Results: The MSSI demonstrated high internal consistency (α=0.78–0.90). Exploratory factor analysis revealed a stable four-factor structure. Based on receiver operating characteristic analysis, optimal cutoff scores were identified to distinguish mood disorder groups from controls, ranging from 19.5 to 27.5 depending on diagnosis. Conclusion The MSSI is a reliable and valid instrument for assessing the severity of mixed features in patients with mood disorders. The established cutoff scores enhance its clinical utility, providing robust diagnosis and treatment planning support.