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.

Purpose: Endoscopic submucosal dissection (ESD) has become a standard minimally invasive treatment for selected patients with early gastric cancer (EGC). This study presents the first nationwide survey of patients with EGC treated with ESD in 2023, conducted by the Korean College of Helicobacter and Upper Gastrointestinal Research. Materials and Methods: Data were retrospectively collected from participating referral centers across Korea using a standardized case report form covering patient characteristics, tumor features, procedural details, histopathological findings, and clinical outcomes.Descriptive and comparative analyses were conducted to summarize nationwide ESD practice patterns and outcomes. Results: Data from 5,460 ESD cases from 5,250 patients across 27 institutions were analyzed. The mean age was 67.4 years, with 74.1% males. Multiple synchronous lesions were identified in 3.7%. Most lesions were located in the lower third of the stomach (64.0%), and differentiated-type adenocarcinomas accounted for 87.8%. The en bloc and complete resection rates were 99.2% and 91.4%, respectively. Curative resection was achieved in 80.5%, whereas local non-curative resection (L-NCR) and surgical non-curative resection (S-NCR) were identified in 2.8% and 16.7%, respectively. Additional surgery was performed more frequently in patients with S-NCR than in those with L-NCR (59.3% vs. 24.7%). The bleeding and perforation rates were 3.6% and 0.9%, respectively, and were mostly managed conservatively or endoscopically. The median length of hospitalization was 4.0 days. Conclusions This first nationwide survey provides a comprehensive overview of the current practice of EGC treatment using ESD in Korea, demonstrating high technical success and safety, and establishing a baseline dataset for future longitudinal research.

Background/Aims: Spinal cord injury (SCI) frequently impairs defecation, severely affecting the quality of life. This study examines compensatory neural remodeling after SCI, focusing on basal colonic contractility, neural responses to electrical field stimulation, and alterations in excitatory cholinergic and inhibitory nitrergic pathways. Methods: Female Sprague–Dawley rats underwent either sham surgery or T10 spinal cord transection and were categorized into 3 groups: sham, 1-week post-SCI (acute), and 4-week post-SCI (chronic). Colonic contractility was assessed in an organ bath using electrical field stimulation in the presence of a nitric oxide synthase inhibitor. Neural protein expression was analyzed by immunofluorescence and Western blotting. Results: SCI produced region- and time-dependent impairments in colonic contractility, with distinct alterations in the proximal circular and longitudinal muscles across acute and chronic phases. Neural excitability shifted dynamically, showing enhanced excitatory activity in the proximal longitudinal muscle at 1-week and the distal circular muscle at 4-week post-SCI. Protein analysis revealed increased neuronal nitric oxide synthase in the proximal colon, decreasedsoluble guanylyl cyclase in the distal colon, upregulated muscarinic M3 receptor in the proximal colon, and reduced vaso-active intestinal peptide receptor 1 in both proximal and distal regions. Conclusion SCI induces spatiotemporal remodeling of excitatory and inhibitory neural pathways, contributing to colonic dysmotility and revealing potential targets for therapeutic intervention.

Background: This study aimed to investigate the effects of upper-extremity heat stress combined with resistance training and resistance training alone on body composition, skill and basal fitness, isokinetic muscle strength, and anabolic hormone levels in wheelchair rugby athletes with spinal cord injury. Methods: Fourteen male national wheelchair rugby athletes with cervical-level spinal cord injury were randomly assigned to the heat stress combined with resistance training (n=7) or resistance training group (n=7). Both groups completed a 10-week upper-extremity resistance training program. Additionally, heat stress was applied to the upper-extremity of the heat stress combined with resistance training group using steam-generating thermal sheets three times per week. Measurements conducted pre- and post-intervention included body composition, skill and basal fitness (one-hand throw, chest throw, 28 m shuttle sprint, and 20 m sprint), isokinetic strength (using the Cybex system at 60°/sec and 180°/sec), and anabolic hormones (growth hormone and insulin-like growth factor). Non-parametric tests (Wilcoxon signed-rank and Mann-Whitney U test) were used for statistical analysis (α=0.05). Results: The heat stress combined with resistance training group showed significant increases in skeletal muscle mass and upper-extremity isokinetic elbow joint strength, particularly in flexion (%BW) and extension (%BW) at 60°/sec. Growth hormone levels increased significantly only in this group, while insulin-like growth factor levels showed marginal improvement. Both groups improved in 28 m shuttle sprint and one-hand throw; however, the heat stress combined group showed a greater effect size in the 20 m sprint. No significant changes were observed in body mass index or body fat percentage. Conclusions The combination of heat stress and resistance training may provide additional benefits in enhancing upper-extremity muscle strength and stimulating anabolic hormone responses in wheelchair rugby athletes with spinal cord injury. These findings suggest a promising and practical strategy for optimizing training adaptations in this athletic population.

Objective: Cyclin-dependent kinase 4/6 (CDK4/6) inhibitors combined with endocrine therapy (ET) constitute the standard systemic treatment for estrogen receptor-positive, human epidermal growth factor 2-negative (ER+/HER2-) metastatic breast cancer (MBC). However, treatment responses remain heterogeneous, highlighting the need for reliable prognostic markers. This study aimed to evaluate the prognostic significance of 18F-fluorodeoxyglucose (FDG) PET/CT findings in this setting. Materials and Methods: This retrospective single-center cohort study included patients with ER+/HER2- MBC who underwent18F-FDG PET/CT before initiating CDK4/6 inhibitors plus ET between 2018 and 2023. Maximum standardized uptake value(SUVmax), whole-body metabolic tumor volume (MTV), and total lesion glycolysis (TLG) were measured. Progression-free survival (PFS) and overall survival (OS) were evaluated as the primary and secondary outcomes, respectively, using multivariable Cox models. PET parameters (SUVmax, MTV, and TLG) were analyzed as both continuous and dichotomized variables based on median values, adjusting for relevant clinical covariates. Results: Among the 374 patients, 82 (21.9%) presented with de novo metastatic disease, and 357 (95.5%) received CDK4/6 inhibitors as first-line therapy. In multivariable Cox analysis, all continuous PET parameters were independently associated with PFS (adjusted hazard ratio for SUVmax 1.05 [95% confidence interval 1.02–1.08]; log-transformed MTV 1.16 [1.08–1.25]; and log-transformed TLG 1.14 [1.07–1.23]) and OS (SUVmax 1.08 [1.04–1.11]; log-transformed MTV 1.24 [1.12–1.38]; and log-transformed TLG 1.22 [1.11–1.34]) with all P < 0.001. Results based on dichotomized PET parameters were similar to those obtained with continuous values: PFS (adjusted hazard ratio for SUVmax ≥ 7.6, 1.41 [1.08–1.85]; MTV ≥ 21.2 cm 3 , 1.41 [1.08–1.86]; and TLG ≥ 78.9, 1.51 [1.14–1.99]) with P ≤ 0.013 and OS (1.43 [1.01–2.04]; 1.84 [1.28– 2.66]; and 1.73 [1.20–2.50], respectively) with P ≤ 0.046. Conclusion Pretreatment 18F-FDG PET/CT parameters are independent prognostic markers in patients with ER+/HER2- MBC receiving CDK4/6 inhibitors with ET, supporting their potential utility in risk stratification.

Background: Cough is a prominent symptom of chronic respiratory diseases, including asthma, idiopathic pulmonary fibrosis (IPF), chronic obstructive pulmonary disease (COPD), and bronchiectasis (BE). Some patients develop chronic cough (CC), defined as lasting more than 8 weeks, yet its characteristics remain poorly understood. This study aimed to characterize CC across various chronic respiratory diseases using validated cough assessment tools. Methods: The Cough Assessment in Chronic Respiratory Diseases (COASESS) study, a multicenter, prospective cross-sectional study, was conducted at 10 university hospitals. CC was evaluated in terms of intensity (numeric rating scale [NRS]), frequency (cough symptom score [CSS]), and quality of life (using the cough assessment test [COAT] and Leicester cough questionnaire [LCQ]). Cough hypersensitivity was assessed with the cough hypersensitivity questionnaire (CHQ). Data on age, sex, and smoking status were also collected. Results: Among the 303 enrolled patients, 266 with chronic respiratory diseases were included in the analysis. Patients with asthma were younger, predominantly female, and non-smokers, whereas those with COPD and IPF were older males who had previously smoked (p<0.001). Scores for COAT, LCQ, NRS, and CSS showed significant differences across the diseases, with asthma and IPF patients experiencing a greater symptom burden and lower quality of life compared to those with COPD or BE (p<0.001). Although CHQ total scores were similar across groups, asthma patients more frequently reported triggers such as talking and post-nasal drip. Conclusion This study revealed distinct characteristics of CC across different chronic respiratory diseases. Asthma and IPF were associated with a higher symptom burden, and cough hypersensitivity varied depending on the underlying condition. These findings highlight the necessity for disease-specific assessments and management strategies for CC.

Objectives: Endoscopic submucosal dissection (ESD) has become a standard minimally invasive treatment for selected patients with early gastric cancer (EGC). This study presents the first nationwide survey of patients with EGC treated with ESD in 2023, conducted by the Korean College of Helicobacter and Upper Gastrointestinal Research. Methods: Data were retrospectively collected from participating referral centers across Korea using a standardized case report form covering patient characteristics, tumor features, procedural details, histopathological findings, and clinical outcomes. Descriptive and comparative analyses were conducted to summarize nationwide ESD practice patterns and outcomes. Results: Data from 5460 ESD cases from 5250 patients across 27 institutions were analyzed. The mean age was 67.4 years, with 74.1% males. Multiple synchronous lesions were identified in 3.7%. Most lesions were located in the lower third of the stomach (64.0%), and differentiated-type adenocarcinomas accounted for 87.8%. The en bloc and complete resection rates were 99.2% and 91.4%, respectively. Curative resection was achieved in 80.5%, whereas local non-curative resection (L-NCR) and surgical non-curative resection (S-NCR) were identified in 2.8% and 16.7%, respectively. Additional surgery was performed more frequently in patients with S-NCR than in those with L-NCR (59.3% vs. 24.7%). The bleeding and perforation rates were 3.6% and 0.9%, respectively, and were mostly managed conservatively or endoscopically. The median length of hospitalization was 4.0 days. Conclusions This first nationwide survey provides a comprehensive overview of the current practice of EGC treatment using ESD in Korea, demonstrating high technical success and safety, and establishing a baseline dataset for future longitudinal research.

Purpose: Chronic myeloid leukemia (CML) in children, adolescents, and young adults is rare and differs from older adults. This study evaluated the outcomes of allogeneic hematopoietic stem cell transplantation (HSCT) in young Korean CML patients during the tyrosine kinase inhibitor (TKI) era. Materials and Methods: A retrospective analysis of 35 CML patients aged < 40 years who underwent allogeneic HSCT from 2009 to 2019 was conducted using Korean Blood and Marrow Transplantation Registry data. Patients were grouped by age < 20 years at HSCT (group 1, n=15) and 20-40 years at HSCT (group 2, n=20). Survival outcomes including overall survival (OS), relapse-free survival (RFS), and event-free survival (EFS) were analyzed using the Kaplan-Meier method. Results: The median time between diagnosis and HSCT was 8.9 months. All the patients achieved engraftment but platelet recovery was significantly slower in group 1 (p=0.034). Acute and chronic graft-versus-host disease occurred in 54.3% and 34.3%, respectively. Five-year OS, RFS, and EFS rates of total patients were 66.8%, 50.8%, and 47.6%, with better OS was observed in group 1 by multivariable analysis (p=0.048). Disease status at HSCT was a significant predictor of OS (p=0.028), RFS (p=0.003), and EFS (p=0.004). Disease progression occurred in 13 out of 35 patients (37.1%); treatment-related mortality accounted for 63.6% of deaths (7 out of 11). Conclusion When performed at a younger age, allogeneic HSCT result in superior outcome in CML. Achieving remission before HSCT is critical for improved outcomes, highlighting the importance of pretransplant remission via optimal TKI strategies and minimal residual disease monitoring.

Alterations in gait patterns often indicate health status, and their analysis enables the diagnosis and assessment of various health conditions. This study aimed to develop a noncontact gait analysis system using red, green, and blue-depth (RGB-D) cameras and to evaluate its potential clinical applicability. A single case study was conducted to assess changes in the gait patterns of a patient with stroke before and after the application of an ankle-foot orthosis. Twenty walking trials were recorded to evaluate the key gait parameters. The custom RGB-D camera-based gait analysis system demonstrated the potential to rapidly quantify key gait parameters in the patient. Compared with normative data, it effectively identified characteristic stroke-related gait impairments such as shorter step lengths and slower gait speeds. However, the intraclass correlation coefficient analysis indicated low measurement reliability. Although the stance time and minimum knee angle on the left and right sides exceeded the standard error of measurement (SEM), no changes exceeded the minimal detectable change (MDC) criteria. Moreover, other gait parameters did not show significant changes beyond SEM or MDC, limiting the interpretability of the results. Therefore, further technological developments and data collection are required to improve test-retest reliability and sensitivity to change.

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.