Refractory iron deficiency anemia (IDA) in children should be investigated beyond dietary deficiency, particularly when accompanied by growth faltering or hypoalbuminemia. PTEN hamartoma tumor syndrome, which includes the Bannayan–Riley– Ruvalcaba syndrome (BRRS) spectrum, may cause diffuse gastrointestinal polyposis, resulting in chronic occult blood and protein loss. We report the case of a girl born in 2015 who presented at the age of two years with severe IDA (hemoglobin 5.0 g/dL, mean corpuscular volume 53.6 fL). Oral iron therapy was initiated, followed by intermittent intravenous iron infusions at progressively shorter intervals; however, the anemia recurred. Stool occult blood and fecal calprotectin test results were consistently negative during this period. Endoscopy and capsule endoscopy revealed diffuse gastrointestinal polyposis, including numerous small bowel polyps with ulcerative features. Genetic analysis revealed a heterozygous pathogenic variant in PTEN, NM_000314.8:c.389G＞A (p.Arg130Gln). Despite endoscopic polypectomy and oral nutritional supplementation, IDA, hypoalbuminemia (albumin, 2.5-3.2 g/dL), and growth faltering persisted. Extraintestinal findings included macrocephaly, lipomatous masses, a subcutaneous hamartoma, and brain magnetic resonance imaging findings consistent with BRRS. Sirolimus therapy was initiated in September 2025, targeting a trough level of 6-10 ng/mL. By 6 months, hemoglobin stabilized at 12.9 g/dL, albumin normalized to 4.4 g/dL, weight increased by 5.1 kg, body mass index improved from below the 3rd percentile to the 10th percentile, and intravenous iron was no longer required. This case suggests that sirolimus may be beneficial in the treatment of diffuse PTEN-related gastrointestinal polyposis when endoscopic management is insufficient.

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.

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/Aims: The absence of standardized clinical minimum inhibitory concentration (MIC) breakpoints for Helicobacter pylori infection has resulted in inconsistent resistance definitions, even within the same research group in Korea. Therefore, establishing epidemiological cutoff values (ECOFFs) is essential for standardization. Methods: The MIC distributions for antibiotics commonly used against H. pylori infection in South Korea were analyzed from 2015 to 2023. A total of 5,925 primary H. pylori isolates were collected from five data sources, and MIC values were determined using the serial 2-fold agar dilution method. The ECOFFinder program was used to establish ECOFFs for six antibiotics. Results: The tentative ECOFFs for amoxicillin and clarithromycin were 0.125 μg/mL. The ECOFFs for levofloxacin, metronidazole, and tetracycline were 0.5, 8.0, and 0.25 μg/mL, respec-tively. The ECOFF for rifabutin could not be determined due to insufficient data. On the basis of these ECOFFs, the resistance rate was 17.9% for amoxicillin, 31.9% for clarithromycin, 40.9% for levofloxacin, 24.7% for metronidazole, and 11.5% for tetracycline. Conclusions This comprehensive analysis defined regional antibiotic resistance patterns and established Korea-specific ECOFFs, providing a foundation for determining clinical breakpoints and optimizing H. pylori eradication strategies.

Background/Aims: Cold snare polypectomy (CSP) is recommended for colorectal polyps <10 mm; however, the impact of snare size on clinical outcomes remains unclear. This study evaluated the efficacy and safety of 10-mm and 15-mm snares for CSP of small colorectal polyps. Methods: In this prospective multicenter study, patients with 4–10 mm non-pedunculated polyps underwent CSP with either a 10-mm or 15-mm snare. Both snares had identical wire thickness and hexagonal loop design. The primary outcome was histological complete resection rate (CRR). Secondary outcomes included adverse events and technical parameters. Results: In total, 182 patients were enrolled (10-mm group: n = 92; 15-mm group: n = 90). Baseline characteristics, including age, sex, polyp size, morphology, location, and pathology, were comparable between groups. Histological CRRs were 90.2% in the 10-mm group and 91.1% in the 15-mm group (P= 0.483). No significant differences were observed in the presence of submucosal tissue within specimens (P= 0.523), iatrogenic ulcer size (P= 0.532), hematoma occurrence (P= 0.391), or intraprocedural bleeding requiring hemostasis (6.5% vs. 5.6%; P= 0.974). No cases of delayed bleeding or perforation were reported. Logistic regression analysis identified iatrogenic ulcer size > 8 mm as an independent predictor of complete resection (odds ratio, 3.89; 95% confidence interval, 1.15–13.21; P= 0.029); snare size was not significantly associated with CRR (P= 0.519). Conclusions CSP using either a 10-mm or a 15-mm snare for 4–10 mm non-pedunculated colorectal polyps showed no significant difference in complete resection or safety outcomes within this size range. (Clinical Research Information Service [CRIS], KCT0005031)

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.

Compound muscle action potential (CMAP) recording provides an objective electrophysiological assessment of facial nerve function after injury. In rodent models, vibrissal CMAPs serve as quantitative surrogates of facial nerve integrity; however, practical descriptions of CMAP recording setups using widely available systems remain limited. In this study, we detail a practical and reproducible method for recording vibrissal CMAPs following direct stimulation of the facial nerve trunk in rats, using a BIOPAC-based system. CMAPs were recorded before and after unilateral facial nerve crush injury, followed by transection and epineural repair. Direct nerve trunk stimulation reliably elicited stable CMAP waveforms and supramaximal stimulation produced consistent responses suitable for longitudinal assessment. Baseline CMAP amplitudes were comparable to previously reported values. After facial nerve injury, CMAPs on the injured side were absent at 1 week, reappeared at 2 weeks, and increased further by 4 weeks. Because absolute CMAP amplitudes varied across recording sessions despite intact contralateral nerves, functional recovery was evaluated using left/right amplitude ratios. Single-peak CMAP amplitude was used to minimize waveform variability and stimulus-related artifacts. This method provides a straightforward and accessible approach for the electrophysiological assessment of facial nerve injury and recovery in experimental rodent models.

Background: The Act on Decisions on Life-Sustaining Treatment (LST) has been implemented in Korea since 2018, yet data on its application in neurocritical care units remain scarce. This study aimed to evaluate the clinical characteristics and outcomes of LST withdrawal or withholding in the neurocritical care unit. Methods: This study was a retrospective analysis conducted at a tertiary university hospital in Busan, South Korea. Among patients admitted to the neurocritical care unit between February 2018 and August 2023, those with documented decisions for LST withdrawal or withholding were enrolled. Demographic and clinical characteristics, underlying and combined conditions, reasons for LST decisions, measures taken, and time from LST withdrawal to death were extracted from medical records. Results: A total of 69 patients were included, with a median age of 67 years, and 38 (55%) were male. Cerebrovascular disease (62%) and traumatic brain injury (22%) were the most common underlying diagnoses. The primary reason for LST decisions was irreversible neurological damage (71%), followed by systemic complications (19%). Mechanical ventilation cessation (91%) and extubation (86%) were most frequently used measures for LST withdrawal. The median time from LST withdrawal to death was 22 minutes. Conclusions Our study demonstrates that LST decisions in the neurocritical care unit predominantly occur among patients with cerebrovascular disease or traumatic brain injury, mostly triggered by neurological deterioration. Most patients died shortly after withdrawal. These findings provide important insight into current LST withdrawal practices in neurocritical care and may assist clinical and ethical decision making in similar settings.