Secondary rhabdoid tumors (RTs) with atypical teratoid/rhabdoid tumor-like features rarely arise from, or coexist with, pleomorphic xanthoastrocytomas (PXAs), and their clinicopathological and molecular characteristics remain poorly understood. We report a 17-year-old girl with a temporal lobe mass that, upon gross total resection, pathologically contained both RT and PXA components. Immunohistochemistry revealed loss of INI1 expression restricted to the RT component, while the PXA area retained INI1. Next-generation sequencing identified a shared BRAF::TRIM24 fusion and homozygous deletion of CDKN2A/2B in both components, indicating a shared clonal origin. Additionally, a germline ATM frameshift mutation (c.5288_5289insGA) was identified in both tumor components, making the first such report in central nervous system tumors. SMARCB1 loss was confined to the RT component, further supporting the hypotheses of clonal evolution and secondary transformation. Despite gross total resection, craniospinal irradiation, and chemotherapy, the patient developed rapid leptomeningeal dissemination and died 5 months after surgery. This case provides clinicopathological and molecular evidence for clonal evolution and secondary transformation of PXA into an RT. The presence of germline ATM mutation may have therapeutic and biological relevance. Further studies are required to clarify the pathogenesis and optimal management of these rare and aggressive tumors.

Background: The Dejour classification is widely accepted for grading the severity of trochlear dysplasia. However, whether it serves as a reliable prognostic marker for patellar instability surgery or a guide for clinical decision-making has yet to be established. Medial patellofemoral ligament (MPFL) reconstruction, with or without tibial tubercle osteotomy (TTO), yields comparable outcomes across Dejour grades. Nonetheless, we hypothesized that specific trochlear parameters would be more significant predictors of surgical results. Methods: This study included patients who underwent MPFL reconstruction, with or without TTO, for recurrent patellar dislocation at a single institution between 2010 and 2023. Patients with at least 1 year of follow-up were included. Preoperative demographics, radiographic measurements such as sulcus angle, lateral trochlear inclination (LTI), and trochlear depth, patient-reported outcome measures (PROMs), and intraoperative findings including cartilage status were analyzed. Severe trochlear dysplasia (STD) was categorized as Dejour B/D, while non-STD encompassed all other cases, and these 2 groups were compared. Postoperative PROMs were assessed at 1 year postoperatively and at the final follow-up. A noninferiority test was performed using Kujala, Lysholm, and International Knee Documentation Committee (IKDC) scores, with the inferiority margin defined by the minimal clinically important difference (MCID). Linear relationships between LTI, a widely used indicator of trochleoplasty, and PROMs were evaluated. Additionally, differences in the proportion of patients achieving MCID, substantial clinical benefit, and patient-acceptable symptom state were analyzed using odds ratios. Results: Forty-two knees (41 patients) were finally enrolled. Radiographic measurements, except for LTI at the most proximal trochlea, showed no significant differences between the STD and non-STD groups. Clinical outcomes also demonstrated no significant differences between the 2 groups, and noninferiority was confirmed. When analyzed based on LTI, no differences in PROMs were observed at the postoperative 1 year. However, at the final follow-up (mean, 37.27 months), the most proximal trochlear LTI showed significant correlations with both Kujala and Knee Injury and Osteoarthritis Outcome Score over the follow-up period. Conclusions MPFL reconstruction, with or without TTO, leads to similar clinical improvements for STD classified by Dejour criteria. However, when assessed using proximal LTI, dysplasia’s role as a prognostic factor should be considered.

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.

Janus kinase (JAK) inhibitors are an important treatment option for ulcerative colitis, providing rapid onset of action, oral administration, and efficacy even after biologic failure. The 3 approved agents—tofacitinib, filgotinib, and upadacitinib—differ in JAK isoform selectivity, leading to clinically meaningful differences in efficacy and safety. Evidence from network meta-analyses, clinical trials, and real-world studies consistently shows that upadacitinib provides the highest efficacy for induction and maintenance of remission, whereas filgotinib demonstrates the most favorable safety profile. The strong efficacy of upadacitinib and tofacitinib is particularly relevant in patients with severe disease, including acute severe ulcerative colitis, and upadacitinib maintains high efficacy regardless of prior advanced therapy exposure. JAK inhibitors also benefit extraintestinal manifestations. Although risks such as herpes zoster, serious infection, thromboembolism, and major cardiovascular events differ among agents, long-term data suggest generally acceptable safety when used appropriately. Intraclass JAK-to-JAK cycling is feasible, with about half of patients achieving steroid-free clinical remission in retrospective cohorts. Based on mechanistic, clinical, and real-world evidence, filgotinib may be a first-line option for patients with lower disease activity or when safety is a priority, whereas upadacitinib or tofacitinib may be preferred in higher disease activity. Strategically selecting agents may improve durability and outcomes.

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.

Neuropathic pain markedly impairs quality of life and imposes a substantial socioeconomic burden, while available treatments often provide only partial relief and are limited by safety concerns. The Neuropathic Pain Special Interest Group of the International Association for the Study of Pain (NeuPSIG-IASP) first published pharmacologic recommendations in 2007, followed by a major update in 2015 and a new guideline in 2025. This narrative review specifically compares the 2015 and 2025 NeuPSIG-IASP guidelines, outlining key methodological changes and therapeutic shifts. The 2025 guideline is based on a larger, more rigorous meta-analysis, maintains α2δ-ligands (adds mirogabalin), serotonin-noradrenaline reuptake inhibitors, and tricyclic antidepressants as first-line drugs, downgrades tramadol into the opioid third-line group. It also introduces high-frequency motor-cortex repetitive transcranial magnetic stimulation as a weakly recommended third-line option and discusses implications for Korean clinical practice.

Purpose: To report a case of primary orbital apocrine adenocarcinoma in a patient diagnosed with gastric adenocarcinoma.Case summary: A 43-year-old male patient diagnosed with gastric adenocarcinoma 3 months prior presented with a gradually enlarging mass in the lower medial aspect of the left eye for 1 year. At initial examination, his best-corrected visual acuity was 1.0 in both eyes and slit-lamp examination revealed no abnormalities. The left eye exhibited proptosis with restricted adduction, abduction, and depression. Orbital magnetic resonance imaging revealed an irregularly shaped mass measuring 56 × 46 × 38 mm in the left inferomedial orbit, invading the medial and inferior rectus muscles. Histopathological analysis of the orbital tumor revealed abundant eosinophilic cytoplasm. Immunohistochemical staining was positive for androgen receptor, and gross cystic disease fluid protein-15, both of which were negative in the gastric adenocarcinoma tissue. Additionally, the mucin phenotypes observed differed from those in the gastric cancer tissue. Based on these findings, the patient was diagnosed with primary orbital apocrine adenocarcinoma. Conclusions Primary orbital apocrine adenocarcinoma is an extremely rare malignant tumor. In patients with gastric cancer, malignant tumors in the orbit can arise as either primary neoplasms or metastatic lesions. Therefore, accurate diagnosis through immunohistochemical staining is essential to determine the appropriate treatment approach.

Background/Aims: This study is the first to analyze telemedicine pilot project experiences from doctors, pharmacists, and patients with different roles to support sustainable commercialization. Methods: An online survey targeted individuals (patients, doctors, and pharmacists) who participated in the telemedicine pilot project at least once between June 1, 2023, and July 17, 2024. The survey assessed satisfaction and usage conditions. The online survey conducted between May 2024 and July 2024 included 1,500 patients, 300 doctors, and 100 pharmacists. Results: Doctors, pharmacists, and patients all expressed their intention to participate actively in telemedicine in the future; however, pharmacists showed lower participation rates than doctors (84.7% vs. 67.0% vs. 91.7%, p < 0.001). The most common reason among doctors was “increasing demands from patients” (44.3%), while for pharmacists, it was “easy management of patients with chronic diseases” (67.0%). This showed a statistically significant difference between groups (p < 0.001). Among patients, 65.0% cited “lack of time and convenience.” Notably, both doctors and patients agreed that telemedicine requires more time than current practices, although their perceptions differed significantly (all p < 0.001). Additionally, 24.0% of patients who used telemedicine for "hair loss/beauty" purposes reported treatment times of “≤ 3 minutes” shorter than for other purposes. Regarding telemedicine platforms, 75.0% of doctors and 84.0% of pharmacists reported no prior experience using them. Conclusions Appropriate telemedicine systems require collaboration among doctors, pharmacists, and patients. While most groups expressed positive attitudes and future intentions, significant gaps in experience and understanding must be addressed to ensure successful implementation.

Background/Aims: Gastric antral vascular ectasia (GAVE) is a rare but important cause of gastrointestinal (GI) bleeding. The clinical course of GAVE is not well-known, and recurrent bleeding from GAVE is a therapeutic challenge. Therefore, we investigated the clinical course of GAVE and identified the risk factors for bleeding from it. Methods: We retrospectively reviewed the records of patients diagnosed with GAVE using upper GI endoscopy at Asan Medical Center between January 2004 and December 2019 and evaluated the clinical course and risk factors for bleeding from GAVE. Results: Of the 348 patients (mean age, 62.3 ± 10.7 years; male, 62%), bleeding from GAVE occurred in 123 (35%) patients during follow-up (median, 17.3 months; interquartile range [IQR], 4.2–46.6). GI bleeding from GAVE was significantly associated with Child–Pugh class B or C liver cirrhosis (odds ratio [OR], 2.55; 95% confidence interval [CI], 1.57–4.16), chronic kidney disease (CKD) (OR, 2.77; 95% CI, 1.52–5.07), use of antithrombotic agents (OR, 2.34; 95% CI, 1.13–4.82), and involvement of the duodenal bulb (OR, 3.21; 95% CI, 1.76–5.86). Rebleeding occurred in 39 of 123 patients (32%), in whom CKD (OR, 2.55; 95% CI, 1.12–5.81) was significantly associated with rebleeding. Endoscopic hemostasis was most commonly performed using argon plasma coagulation, and the median number of endoscopic hemostasis performed was 2 (IQR, 1–3). Conclusions A careful follow-up for bleeding is needed in GAVE patients with liver cirrhosis, CKD, use of antithrombotic agents, and duodenal bulb involvement.

Rectal cancer, which accounts for approximately 40% of colorectal cancers, remains a major clinical concern. Recent advances in diagnostic imaging, surgical techniques, radiotherapy, and systemic treatment have steadily improved rectal cancer outcomes. Considering this, the Korean Rectal Cancer Multidisciplinary (KRCM) Committee has aimed to provide clinicians and policymakers with up-to-date, evidence-based clinical practice guidelines to support optimal decision-making, reflecting current evidence, the Korean healthcare context, and patient values and preferences. The Clinical Practice Guidelines for Rectal Cancer version 2.0 were developed through multidisciplinary collaboration with related academic societies, building upon and updating the KRCM Clinical Practice Guidelines version 1.0 (titled “Multidisciplinary guidelines for the management of rectal cancer”). These consensus guidelines of the KRCM were established based on a comprehensive literature review, evidence synthesis, with recommendation development guided by the GRADE (Grading of Recommendations Assessment, Development and Evaluation) methodology, and consideration of applicability in real-world clinical practice under the national health insurance system. Each recommendation has been presented with its strength and level of evidence.