Purpose: Triple-negative breast cancer (TNBC) is a frequent phenotype of BRCA-mutanttumors. Tumors with BRCAness may show characteristics of BRCA-mutant tumors and respond to similar treatments. Next-generation sequencing is an efficient and cost-effective method for simultaneously sequencing multiple cancer susceptibility genes, surpassing conventional Sanger testing. Methods: A total of 148 women with TNBC were recruited from December 2015 to November 2018, as part of a sub-analysis based on the PEARLY trial data. Of them, 103 patients received neoadjuvant chemotherapy (NCT). The targeted genes related to hereditary cancers were sequenced using the 65-gene germline next-generation sequencing (gNGS) panel pathogenic and likely pathogenic variants (P&LPs) were determined by Sanger sequencing. We examined the occurrence of pathologic complete remission (ypCR) in patients with P&LPs. Results: The patients’ median age was 47 years (range, 27–69 years). Twenty (13.7%) of 148 patients had P&LP in six genes, including BARD1 (n = 2), BRCA1 (n = 9), BRCA2 (n = 5), CHEK2 (n = 1), RAD51C (n = 1), and RAD51D (n = 2). Among the 103 patients with NCT, 43 (41.7%) achieved ypCR (P&LPs; 9 individuals vs. non-variants; 34 individuals). Among the 103 patients with NCT, 14 (9.3%) had P&LPs. Nine of 14 patients with P&LPs, including BARD1 (n = 2), BRCA1 (n = 4), BRCA2 (n = 1), RAD51C (n = 1), and RAD51D (n = 1), achieved ypCR, showing a trend toward statistical significance (p = 0.066). Conclusion Germline P&LP mutations in TNBC patients can be detected by gNGS. This panel test can identify BRCA and BRCAness mutations that may predict ypCR in TNBC.

Purpose: Preterm birth remains a leading cause of long-term neurodevelopmental impairment, yet early evaluations frequently underestimate subsequent deficits. This study examined longitudinal neurodevelopmental trajectories across gestational age groups and identified predictors of developmental delay. Methods: A retrospective cohort of 532 preterm children, stratified by gestational age, was followed from the neonatal period to early preschool age. Neurodevelopment was assessed using the Korean version of the Bayley Scales of Infant and Toddler Development, Third Edition at 8–12 months (n=481), 13–24 months (n=118), and 25–42 months (n=100). Longitudinal trajectories were analyzed using general linear models, and predictors of developmental delay were identified through multivariable logistic regression. Results: During the first year, motor scores differed significantly across gestational age groups, with extremely preterm infants showing the lowest values. By the third to fourth years of life, cognitive and language scores diverged markedly, with extremely preterm children exhibiting the steepest decline and additional deficits in motor and adaptive behavior domains. Lower gestational age remained an independent predictor of both cognitive and language delay at early preschool age, while no independent predictors were identified for motor, social-emotional, or adaptive behavior outcomes. Conclusion Neurodevelopmental outcomes in preterm children follow dynamic, domain-specific trajectories influenced by gestational age and developmental timing. Motor delays are most evident in infancy, whereas cognitive and language impairments emerge by early preschool age. Gestational age remains a consistent predictor of later delay, emphasizing the need for longitudinal, gestational age–stratified monitoring and early, targeted intervention.

Purpose: Psychiatric conditions are common in children and adolescents with diabetes and can hinder disease management. In this study, we examined whether mental health status at diagnosis predicts glycemic control at 1 year. Methods: We included 57 patients aged 6–18 years diagnosed with type 1 or type 2 diabetes between 2019 and 2023 at Seoul National University Bundang Hospital. Mental health was assessed within 3 months of diagnosis using the Eating Disorder Inventory-2, Children’s Depression Inventory, and Child Behavior Checklist (CBCL) for ages 6–18. Poor glycemic control was defined as glycated hemoglobin >6.5% at 1 year. Associations between screening results and glycemic control were analyzed using Fisher exact test and multivariate logistic regression. Results: Of the 57 patients, 32 (56.1%) had type 1 diabetes, and the mean age at diagnosis was 12.9±3.1 years; 31 (54.4%) were male. Poor glycemic control at 1 year was observed in 16 patients (28.1%). Although individual subscale positivity was not significantly associated with glycemic control, borderline somatic complaints on the CBCL were significantly associated with poor control (p=0.022). In multivariate analysis, having 2 or more positive CBCL subscales showed a trend toward association with poor glycemic control (adjusted odds ratio=21.47, p=0.054). Conclusion Early psychological screening, especially for somatic symptoms or multiple psychological problems, may help identify those at risk for poor glycemic control in pediatric diabetes. These findings underscore the importance of early detection and intervention in optimizing diabetes management.

Purpose: To determine the prevalence of tamoxifen retinopathy and assess the utility of a screening protocol using non-mydriatic fundus photography and optical coherence tomography (OCT). Methods: Between May and October 2024, patients on tamoxifen therapy at a breast surgery clinic were offered screening including non-mydriatic fundus photography and OCT. Among those who consented, 290 patients (580 eyes) were included after excluding other retinal diseases. We investigated tamoxifen duration, cumulative dose, central retinal thickness, BMI, underlying diseases, menopausal status, and history of chemotherapy, hormone therapy, or oral contraceptives. Results: All patients were taking 20 mg of tamoxifen daily. The mean treatment duration was 55.7 ± 29.5 months for those treated longer than two years (n = 193), with a mean BMI of 22.1 ± 3.0 kg/m2. Systemic comorbidities included dyslipidemia (n = 27, 14.0%), hypertension (n = 19, 9.8%), diabetes mellitus (n = 13, 6.7%), and cardiovascular disease (n = 4, 2.1%). Additionally, patient histories included chemotherapy (n = 84, 43.7%), postmenopausal status (n = 56, 29.1%), hormone therapy (n = 52, 27.0%), and oral contraceptive use (n = 14, 7.2%). Tamoxifen retinopathy was not observed in any of the patients. Conclusions In this cross-sectional study, the prevalence of tamoxifen retinopathy, as assessed by non-mydriatic fundus photography and OCT in this study, was 0%, which is lower than previously reported rates (0.9%–12%). Although specialized examination by an ophthalmologist, including a dilated fundus examination and OCT remains the diagnostic gold standard, practical constraints can limit its routine clinical use. Our study evaluated a screening protocol performed without ophthalmologist intervention. However, we found that limitations in image quality compromised the detection of subtle lesions, such as crystalline deposits. Consequently, this approach may be insufficient to serve as a primary screening strategy.

Purpose: The aim of this study is to compare the detection ability of quality of life (QoL) changes and responsiveness of the KOrean QUality of life in Stomach cancer patients Study group (KOQUSS)-40 and European Organization for Research and Treatment of Cancer Quality of Life Questionnaire (EORTC QLQ). Materials and Methods: A multicenter prospective observational study was conducted to evaluate QoL changes after various gastrectomies between January 2021 and April 2022. Participants were instructed to complete the KOQUSS-40 and EORTC QLQ-C30/STO22 preoperatively and at 1, 3, 6, and 12 months postoperatively. QoL changes over time and QoL responsiveness were assessed for each questionnaire. Results: Data from 491 patients who underwent curative gastrectomy for gastric cancer at 22 institutions were analyzed. The summary scores of the KOQUSS-40 and EORTC QLQ-STO22 showed significant differences between the total and proximal gastrectomy groups (p=0.044 and p=0.038, respectively), but no difference was observed for the EORTC QLQ-C30. Dysphagia on the KOQUSS-40 was significantly different between the total and proximal gastrectomy groups (p=0.031); however, dysphagia on the EORTC QLQ-STO22 did not differ. The responsiveness of the KOQUSS-40 was similar to that of the EORTC QLQ in patients who experienced ≥ 10% body weight loss, but approximately 10% less in patients receiving adjuvant chemotherapy than the EORTC QLQ. Conclusion KOQUSS-40 has several advantages over EORTC QLQ-C30/STO22 when comparing QoL between the total and proximal gastrectomy groups. The findings provide information for researchers investigating the QoL of patients who have undergone curative gastrectomy for gastric cancer.

Background: With the aging population and advancements in medical care worldwide, the number of older patients with end-stage kidney disease continues to rise. This study aimed to identify factors associated with osteoporosis and osteopenia in older patients undergoing incident hemodialysis and assess their impact on mortality. Methods: We analyzed a large multicenter retrospective cohort of patients aged ≥70 years undergoing incident hemodialysis to identify factors associated with osteoporosis using logistic regression analysis and to assess the association of death with osteoporosis and osteopenia using Cox multivariable analysis. Results: Among 710 patients, 39.0% and 19.6% had osteoporosis and osteopenia, respectively. Osteoporosis was significantly associated with female sex, a history of fractures, and the absence of phosphate binder use. During a median follow-up of 36.8 months, 348 participants (58.8%) died. Mortality rates were the highest in the osteoporosis group (79.8%), followed by the osteopenia (77.2%) and normal bone mineral density (BMD) groups (35.2%). Cox regression analysis revealed that even after adjusting for covariates, the osteoporosis group was significantly associated with a higher mortality risk than the normal BMD group. Osteoporosis at the start of hemodialysis was significantly associated with higher mortality. Conclusion We should consider the importance of bone health in patients undergoing incident hemodialysis and pay attention to the use of phosphate binders and fracture prevention.

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.

Alzheimer disease (AD) diagnosis is confirmed using a medley of modalities, such as the detection of amyloid-β (Aβ) neuritic plaques and neurofibrillary tangles with positron electron tomography (PET) or the appraisal of irregularities in cognitive function with examinations. Although these methods have been efficient in confirming AD pathology, the rising demand for earlier intervention during pathogenesis has led researchers to explore the diagnostic potential of fluid biomarkers in cerebrospinal fluid (CSF) and plasma. Since CSF sample collection is invasive and limited in quantity, biomarker detection in plasma has become more attractive and modern advancements in technology has permitted more efficient and accurate analysis of plasma biomolecules. In this study, we found that a composite of standard factors, Aβ40 and total tau levels in plasma, divided by the variation factor, plasma Aβ42 level, provide better correlation with amyloid neuroimaging and neuropsychological test results than a level comparison between total tau and Aβ42 in plasma. We collected EDTA-treated blood plasma samples of 53 subjects, of randomly selected 27 AD patients and 26 normal cognition (NC) individuals, who received amyloid-PET scans for plaque quantification, and measured plasma levels of Aβ40, Aβ42, and total tau with digital enzyme-linked immunosorbent assay (ELISA) in a blinded manner. There was difficulty distinguishing AD patients from controls when analyzing biomarkers independently. However, significant differentiation was observed between the two groups when comparing individual ratios of total-tau×Aβ40/Aβ42. Our results indicate that collectively comparing fluctuations of these fluid biomarkers could aid in monitoring AD pathogenesis.

Background/Aims: This study aimed to evaluate the performance of the Model for End-Stage Liver Disease (MELD) 3.0 for predicting mortality and liver-related complications compared with the Child-Pugh classification, albumin-bilirubin (ALBI) grade, the MELD, and the MELD sodium (MELDNa) score. Methods: We evaluated a multicenter retrospective cohort of incorporated patients with cirrhosis between 2013 and 2019. We conducted comparisons of the area under the receiver operating characteristic curve (AUROC) of the MELD3.0 and other models for predicting 3-month mortality. Additionally, we assessed the risk of cirrhosis-related complications according to the MELD3.0 score. Results: A total of 3,314 patients were included. The mean age was 55.9±11.3 years, and 70.2% of the patients were male. Within the initial 3 months, 220 patients (6.6%) died, and the MELD3.0had the best predictive performance among the tested models, with an AUROC of 0.851, outperforming the Child-Pugh classification, ALBI grade, MELD, and MELDNa. A high MELD3.0score was associated with an increased risk of mortality. Compared with that of the group with a MELD3.0 score <10 points, the adjusted hazard ratio of the group with a score of 10–20 pointswas 2.176, and that for the group with a score of ≥20 points was 4.892. Each 1-point increase inthe MELD3.0 score increased the risk of cirrhosis-related complications by 1.033-fold. The risk of hepatorenal syndrome showed the highest increase, with an adjusted hazard ratio of 1.149, followed by hepatic encephalopathy and ascites. Conclusions The MELD3.0 demonstrated robust prognostic performance in predicting mortality in patients with cirrhosis. Moreover, the MELD3.0 score was linked to cirrhosis-related complications, particularly those involving kidney function, such as hepatorenal syndrome and ascites.