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.

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: Helicobacter pylori is a pathogen that causes chronic gastritis and peptic ulcer diseases and is a carcinogen responsible for the development of malignancies, including gastric cancer. In the current era of high antimicrobial resistance, rifabutin-based triple therapy is recommended as a salvage therapy. Bismuth has not only a strong bacteriostatic effect but also a synergic effect when combined with antibiotics. Our study aimed to compare and evaluate the eradication rates between rifabutin-based triple therapy and rifabutin with bismuth-containing quadruple therapy as salvage treatments. Methods: In this single-center study, patients who received rifabutin-based triple therapy and rifabutin with bismuth-containing quadruple therapy after failure of conventional therapy, including first- and second-line treatment, between January 2016 and July 2024, were retrospectively investigated. A total of 53 patients who received rifabutin-based triple therapy and 50 who received bismuth-containing quadruple therapy were included. Results: In the rifabutin-based triple therapy group, eradication was achieved in 32 out of 53 patients (60.4%; 95% confidence interval [CI], 46.8% to 74.0%). In the bismuth-containing quadruple therapy group, eradication was achieved in 40 out of 50 patients (80.0%; 95% CI, 68.5% to 91.5%), demonstrating significant therapeutic benefit (p=0.030). Adverse events, including nausea, epigastric discomfort, and lethargy, were significantly more frequent in the bismuth-containing quadruple therapy group (p=0.007), but they were mild and tolerable enough not to affect compliance (p=0.329). Conclusions Rifabutin with bismuth-containing quadruple regimen as a salvage treatment achieved significantly superior eradication efficacy over the rifabutin-based triple regimen. Further multicenter prospective studies are needed to provide additional supporting evidence.

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.

This study compared key health indicators of poor, older urban adults attending a free clinic with those of the general older population, using data from the 2023 Korea National Health and Nutrition Examination Survey (KNHANES). Methods: This cross-sectional comparative study included 60 adults aged ≥60 years who attended the Raphael Nanum Homeless Clinic in Seoul. Participants completed a questionnaire, underwent anthropometric assessment, and provided fasting blood samples for measurement of total cholesterol, low density lipoprotein (LDL)-cholesterol, and triglycerides (TG). Obesity, current smoking, monthly alcohol use, poor self-rated health, and strength exercise (≥ 2 days/week) were defined according to 2023 KNHANES criteria and compared with age-matched 2023 KNHANES estimates for adults aged ≥ 60 years using independent t-tests and two-proportion z-tests. Results: Participants were predominantly men (80.0%) with a mean age of 79.9 years; 70.0% reported no regular income, and 46.7% rated their health as poor. Compared with their 2023 KNHANES counterparts, the clinic group had a higher prevalence of obesity (50.0% vs. 35.0%), particularly among men, and a more atherogenic lipid profile characterized by higher LDL-cholesterol despite similar total cholesterol levels and lower TG. The prevalence of current smoking (3.3% vs. 10.6%) and monthly alcohol use (31.7% vs. 53.0%) was significantly lower, whereas participation in strength exercise was low in both groups, with no significant differences observed. Conclusion: Poor, older urban adults exhibited multidimensional health disparities, including obesity, adverse lipid profiles, and markedly poorer self-rated health, despite lower levels of smoking and alcohol consumption. Community-based interventions targeting nutrition, physical activity, and chronic disease management are needed to reduce health inequalities in this vulnerable population.

Objective: : This study aimed to identify risk factors predicting the loss of cervical lordosis (LCL) in patients with multilevel ossification of the posterior longitudinal ligament (OPLL) after laminoplasty. Additionally, we evaluated the impact of these factors on health-related quality of life (HRQOL). Methods: : We retrospectively analyzed data from patients who underwent laminoplasty at Chonnam National University Hospital between January 2013 and December 2022. A range of radiological parameters and clinical outcome measures were collected perioperatively. Patients were divided into two groups based on the severity of LCL. We then evaluated preoperative radiological parameters associated with LCL and clinical outcomes, including HRQOL. Results: : A total of 110 patients (93 men and 17 women; mean age, 61.31±10.80 years) were included in the analysis. A higher T1 slope (T1S) (β=-0.412; p=0.004) and a lower extension ratio (β=0.107; p=0.006) were associated with an increased risk of LCL. T1S proved to be an excellent predictor of LCL, with a cutoff value of 28° (p<0.001; area under the curve, 0.918). Furthermore, T1S was the only factor significantly correlated with HRQOL after laminoplasty (r=-0.330; p<0.001). Conclusion : T1S was significantly associated not only with LCL but also with HRQOL among patients with multilevel OPLL after laminoplasty. With a T1S cutoff of 28°, a T1S exceeding this threshold can be considered an important prognostic factor when planning laminoplasty in these patients.

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.

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.

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.