Background: Copy number variations (CNVs) play an important role in human genetic disorders. Detection of exon-level CNVs is crucial for accurate clinical diagnosis. The CytoScan XON Array, a high-resolution microarray, was recently developed to detect exonic CNVs of various genes. Methods: We evaluated the clinical performance of the CytoScan XON Array using 59 patient samples with previously identified CNVs, confirmed via methods including multiple ligation-dependent probe amplification (MLPA), gene-dose PCR, and mRNA assay. Concordance between CytoScan XON and orthogonal methods was evaluated in target regions, and diagnostic utility was compared with that of genome sequencing (GS)-based CNV calling tools through analysis of false-positive CNVs in non-target genomic regions. Results: For target regions, the CytoScan XON Array achieved concordance rates of 89.8% and 92.5% at the exon and gene levels, respectively, for all CNV calls. Concordance was higher for multi-exon CNVs (100%) than that for single-exon CNVs (82.6%, P = 0.03). For non-target regions, false-positive CNV calls were reduced to fewer than 0.01 per gene per person through filtering strategies. The array exhibited false-positive detection rates within dosage-sensitive genes comparable with those of GS-based tools. Conclusions The CytoScan XON Array, a reliable tool for detecting exon-level CNVs in target regions, can serve as a complementary approach to GS-based CNV calling tools for genome-wide CNV screening with high resolution. However, its performance for single-exon CNVs requires further optimization. Cross-validation with GS-based CNV calling tools is recommended to improve diagnostic accuracy.

Objective: To evaluate the diagnostic performance of the “probable hepatocellular carcinoma (HCC)” category in the Korean Liver Cancer Association-National Cancer Center (KLCA-NCC) v2022 guidelines. Materials and Methods: This multicenter retrospective study included patients at risk of HCC who underwent gadoxetic acid-enhanced MRI between January 2015 and June 2018; a subgroup of these patients also underwent liver CT. Eligible patients had at least one non-cystic lesion (≥10 mm) with a reference standard. Four radiologists interpreted the images independently and the results were pooled. The performance of “definite HCC” and “probable HCC” together and “probable HCC” alone were compared between v2018 and v2022. Results: A total of 2,237 patients (1,666 men; mean age, 59 ± 11 years) with 2,445 lesions were included. In v2022, 1.5% (143/9,780) of the lesions were additionally categorized as “probable HCC” by four reviewers on MRI; among these, 104 lesions were not HCCs. Focal nodular hyperplasia (FNH) or FNH-like nodules constituted 90.4% (94/104) of the false positives. When “definite HCC” and “probable HCC” were combined, v2022 showed higher sensitivity (83.7% [5,670/6,776] vs. 83.1% [5,631/6,776]) but lower specificity (77.1% [2,316/3,004] vs. 80.6% [2,420/3,004]) than v2018 (P < 0.001). For “probable HCC” alone, v2022 showed a lower positive predictive value (PPV) than v2018 (64.1% [373/582] vs. 76.1% [334/439], P < 0.001). In v2022, lesions with non-rim arterial-phase hyperenhancement (APHE) showed a lower PPV than those without APHE (42.3% [91/215] vs. 76.8% [282/367], P < 0.001). In the CT subgroup (n = 1,590), 1.6% (99/6,360) of the lesions were reassessed as “probable HCC,” and its PPV was 83.8% (83/99) in v2022 whereas no lesions were classified as “probable HCC” under v2018. Conclusion The revised “probable HCC” category in the KLCA-NCC v2022 aligns with updates in the diagnostic flow, demonstrating acceptable performance on MRI and CT. Notably, FNH or FNH-like nodules can be misclassified as “probable HCC” when MRI is used.

Purpose: This study was performed to predict individualized treatment strategies in ruptured abdominal aortic aneurysm (rAAA) by estimating the survival benefit of endovascular aneurysm repair (EVAR) and open surgical repair (OSR) based on anatomical and physiological features using a causal inference model. Methods: This retrospective study included 45 patients with de novo rAAA who underwent EVAR or OSR between 2012 and 2024. Thirty-three variables were analyzed. The model estimated individualized treatment effects (ITE) for 30-day survival.Model interpretability was assessed using Shapley Additive Explanations (SHAP) analysis. Five-fold cross-validation, receiver operating characteristic (ROC) analysis, and calibration plots were used for model evaluation. A clinical decision tree was developed to derive simplified decision rules. Results: The mean ITE was 0.22 ± 0.42, with 33% of patients classified as OSR-benefit candidates. SHAP analysis revealed that suprarenal angle, infrarenal angle, iliac anatomy, and proximal neck characteristics strongly influenced treatment effects. However, some predictors, such as low hemoglobin and systolic blood pressure favoring OSR, conflicted with clinical intuition. ROC analysis showed an area under the curve of 1.00, but calibration suggested overfitting due to a small sample size. Treatment-matched patients had a higher 30-day mortality rate than mismatched patients, suggesting potential bias or unmeasured confounding. The decision tree identified clinically relevant features but displayed structural inconsistencies and impractical cutoff values due to the limited sample size. Conclusion The X-learner model demonstrated the feasibility of individualized treatment prediction in rAAA but suffered from overfitting and limited generalizability. Validation with larger multicenter cohorts is necessary to confirm clinical applicability.

Background: Oral sulfate tablets (OSTs) are bowel preparation agents that combine oral sulfate solution and simethicone. This study compared the efficacy, tolerability, and safety of OST compared to 2 L-polyethylene glycol plus ascorbic acid (2 L-PEG/ASC). Methods: This prospective, randomized, controlled, single-blinded, multicenter, noninferiority trial enrolled 211 healthy adults who underwent colonoscopy between May 2020 and September 2022 at 13 university hospitals. The bowel cleansing rate was assessed using the Boston Bowel Preparation Scale (BBPS) and Harefield Cleansing Scale (HCS), and the preparation agents were administered in split regimens. Results: The total BBPS score (8.2 ± 1.5 vs. 7.8 ± 1.4, p = 0.040) and the high-quality bowel cleansing rates in the right colon (73.2% vs. 50.5), transverse colon (80.6% vs. 68.0%), and left colon (81.5% vs. 67.0%) on the BBPS were significantly higher in the OST group than in the 2 L-PEG/ASC group. However, the rates of successful cleansing according to BBPS (90.7% vs. 91.2%) and HCS (96.3% vs. 94.2%) did not significantly differ between the two groups.The taste, ease, and amount of consumption of the preparation agent; and willingness to repeat colonoscopy with the same agent (89.8% vs. 78.6%, P = 0.026) were significantly better in the OST group compared to the 2 L-PEG/ASC group. Adverse events and clinically significant laboratory changes were not significantly different between the two groups. Conclusion The OST was not inferior to 2 L-PEG/ASC in terms of bowel cleansing efficacy and showed better tolerability when used for bowel preparation for colonoscopy.

Background: This study aimed to generate a Z score calculation model for coronary artery diameter of normal children and adolescents to be adopted as the standard calculation method with consensus in clinical practice. Methods: This study was a retrospective, multicenter study that collected data from multiple institutions across South Korea. Data were analyzed to determine the model that best fit the relationship between the diameter of coronary arteries and independent demographic parameters. Linear, power, logarithmic, exponential, and square root polynomial models were tested for best fit. Results: Data of 2,030 subjects were collected from 16 institutions. Separate calculation models for each sex were developed because the impact of demographic variables on the diameter of coronary arteries differs according to sex. The final model was the polynomial formula with an exponential relationship between the diameter of coronary arteries and body surface area using the DuBois formula. Conclusion A new coronary artery diameter Z score model was developed and is anticipated to be applicable in clinical practice. The new model will help establish a consensus-based Z score model.

Background: Oral sulfate tablets (OSTs) are bowel preparation agents that combine oral sulfate solution and simethicone. This study compared the efficacy, tolerability, and safety of OST compared to 2 L-polyethylene glycol plus ascorbic acid (2 L-PEG/ASC). Methods: This prospective, randomized, controlled, single-blinded, multicenter, noninferiority trial enrolled 211 healthy adults who underwent colonoscopy between May 2020 and September 2022 at 13 university hospitals. The bowel cleansing rate was assessed using the Boston Bowel Preparation Scale (BBPS) and Harefield Cleansing Scale (HCS), and the preparation agents were administered in split regimens. Results: The total BBPS score (8.2 ± 1.5 vs. 7.8 ± 1.4, p = 0.040) and the high-quality bowel cleansing rates in the right colon (73.2% vs. 50.5), transverse colon (80.6% vs. 68.0%), and left colon (81.5% vs. 67.0%) on the BBPS were significantly higher in the OST group than in the 2 L-PEG/ASC group. However, the rates of successful cleansing according to BBPS (90.7% vs. 91.2%) and HCS (96.3% vs. 94.2%) did not significantly differ between the two groups.The taste, ease, and amount of consumption of the preparation agent; and willingness to repeat colonoscopy with the same agent (89.8% vs. 78.6%, P = 0.026) were significantly better in the OST group compared to the 2 L-PEG/ASC group. Adverse events and clinically significant laboratory changes were not significantly different between the two groups. Conclusion The OST was not inferior to 2 L-PEG/ASC in terms of bowel cleansing efficacy and showed better tolerability when used for bowel preparation for colonoscopy.

Background: Oral sulfate tablets (OSTs) are bowel preparation agents that combine oral sulfate solution and simethicone. This study compared the efficacy, tolerability, and safety of OST compared to 2 L-polyethylene glycol plus ascorbic acid (2 L-PEG/ASC). Methods: This prospective, randomized, controlled, single-blinded, multicenter, noninferiority trial enrolled 211 healthy adults who underwent colonoscopy between May 2020 and September 2022 at 13 university hospitals. The bowel cleansing rate was assessed using the Boston Bowel Preparation Scale (BBPS) and Harefield Cleansing Scale (HCS), and the preparation agents were administered in split regimens. Results: The total BBPS score (8.2 ± 1.5 vs. 7.8 ± 1.4, p = 0.040) and the high-quality bowel cleansing rates in the right colon (73.2% vs. 50.5), transverse colon (80.6% vs. 68.0%), and left colon (81.5% vs. 67.0%) on the BBPS were significantly higher in the OST group than in the 2 L-PEG/ASC group. However, the rates of successful cleansing according to BBPS (90.7% vs. 91.2%) and HCS (96.3% vs. 94.2%) did not significantly differ between the two groups.The taste, ease, and amount of consumption of the preparation agent; and willingness to repeat colonoscopy with the same agent (89.8% vs. 78.6%, P = 0.026) were significantly better in the OST group compared to the 2 L-PEG/ASC group. Adverse events and clinically significant laboratory changes were not significantly different between the two groups. Conclusion The OST was not inferior to 2 L-PEG/ASC in terms of bowel cleansing efficacy and showed better tolerability when used for bowel preparation for colonoscopy.

Background: Oral sulfate tablets (OSTs) are bowel preparation agents that combine oral sulfate solution and simethicone. This study compared the efficacy, tolerability, and safety of OST compared to 2 L-polyethylene glycol plus ascorbic acid (2 L-PEG/ASC). Methods: This prospective, randomized, controlled, single-blinded, multicenter, noninferiority trial enrolled 211 healthy adults who underwent colonoscopy between May 2020 and September 2022 at 13 university hospitals. The bowel cleansing rate was assessed using the Boston Bowel Preparation Scale (BBPS) and Harefield Cleansing Scale (HCS), and the preparation agents were administered in split regimens. Results: The total BBPS score (8.2 ± 1.5 vs. 7.8 ± 1.4, p = 0.040) and the high-quality bowel cleansing rates in the right colon (73.2% vs. 50.5), transverse colon (80.6% vs. 68.0%), and left colon (81.5% vs. 67.0%) on the BBPS were significantly higher in the OST group than in the 2 L-PEG/ASC group. However, the rates of successful cleansing according to BBPS (90.7% vs. 91.2%) and HCS (96.3% vs. 94.2%) did not significantly differ between the two groups.The taste, ease, and amount of consumption of the preparation agent; and willingness to repeat colonoscopy with the same agent (89.8% vs. 78.6%, P = 0.026) were significantly better in the OST group compared to the 2 L-PEG/ASC group. Adverse events and clinically significant laboratory changes were not significantly different between the two groups. Conclusion The OST was not inferior to 2 L-PEG/ASC in terms of bowel cleansing efficacy and showed better tolerability when used for bowel preparation for colonoscopy.

no abstract available.

Purpose: Agonists of the stimulator of interferon genes (STING) play a key role in activating the STING pathway by promoting the production of cytokines. In this study, we investigated the antitumor effects and activation of the systemic immune response of treatment with DMXAA (5,6-dimethylxanthenone-4-acetic acid), a STING agonist, in EML4-ALK lung cancer and CT26 colon cancer. Materials and Methods: The abscopal effects of DMXAA in the treatment of metastatic skin nodules were assessed. EML4-ALK lung cancer and CT26 colon cancer models were used to evaluate these effects after DMXAA treatment. To evaluate the expression of macrophages and T cells, we sacrificed the tumor-bearing mice after DMXAA treatment and obtained the formalin-fixed paraffin-embedded (FFPE) tissue and tumor cells. Immunohistochemistry and flow cytometry were performed to analyze the expression of each FFPE and tumor cell. Results: We observed that highly infiltrating immune cells downstream of the STING pathway had increased levels of chemokines after DMXAA treatment. In addition, the levels of CD80 and CD86 in antigen-presenting cells were significantly increased after STING activation. Furthermore, innate immune activation altered the systemic T cell-mediated immune responses, induced proliferation of macrophages, inhibited tumor growth, and increased numbers of cytotoxic memory T cells. Tumor-specific lymphocytes also increased in number after treatment with DMXAA. Conclusion The abscopal effect of DMXAA treatment on the skin strongly reduced the spread of EML4-ALK lung cancer and CT26 colon cancer through the STING pathway and induced the presentation of antigens.