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.

This video demonstrates the surgical technique of percutaneous endoscopic debridement and drainage (PEDD) for infectious spondylodiscitis performed under local anesthesia. Two representative cases are presented. The first case underwent transforaminal PEDD for L2–3 infectious spondylodiscitis, and the second case underwent combined transforaminal PEDD and drainage of a psoas abscess. In both cases, needle insertion was guided by C-arm fluoroscopy, followed by root block, discography, serial dilation, and insertion of a 3.7-mm endoscope. Under endoscopic visualization, necrotic disc material and infected granulation tissue were removed, and samples were collected for culture and biopsy. The procedure also enabled safe placement of a drainage catheter into the abscess cavity. Postoperatively, one patient improved with intravenous antibiotics after identification of Streptococcus constellatus, while the other was diagnosed with tuberculous spondylodiscitis and treated with antituberculosis therapy. Both patients showed gradual improvement in back pain and normalization of inflammatory markers. This video provides a detailed step-by-step guide to PEDD, highlighting its diagnostic and therapeutic advantages in infectious spondylodiscitis, as well as its educational value for surgeons learning full-endoscopic spine surgery.

Objective: This study aimed to evaluate the feasibility, safety, and oncologic outcomes of irreversible electroporation (IRE) using a clustered electrode in patients with locally advanced pancreatic cancer (LAPC). Materials and Methods: In this single-center prospective cohort study, 13 patients with LAPC (median age, 60 years; range, 48–78 years) underwent clustered electrode IRE between September 2022 and September 2024. Patient characteristics, procedural details, and clinical outcomes were recorded. Endpoints included technical success, procedure-related complications, overall survival (OS), and progression-free survival (PFS). Results: Tumors were located in the pancreatic head in four patients (30.8%) and in the body/tail in nine (69.2%). The median tumor size was 2.4 cm (1.5–4.0 cm), and vascular invasion was present in all patients. Technical success was achieved in all patients. Intraoperative IRE was performed in 11 (84.6%) patients, and 2 (15.4%) patients underwent percutaneous IRE. Gastrointestinal bleeding events as major complications occurred in two patients (15.4%) and, both were successfully controlled by embolization. No 60-day mortality was observed. At a median follow-up of 24.5 months (range, 9.9–33.4 months) after IRE, median OS and PFS from IRE were 20.1 and 14.5 months, respectively. Conclusion IRE using clustered electrodes for LAPC appears to be a feasible therapeutic approach, offering reliable technical success and acceptable safety. Survival outcomes are encouraging; however, larger, controlled studies are required.

Objective: To evaluate the performance of supplemental automated breast ultrasound (ABUS) added to mammography-based breast cancer screening for women with nondense breasts. Materials and Methods: A retrospective search of radiology databases at two tertiary institutions identified asymptomatic women with nondense breasts who underwent breast cancer screening using both digital mammography (DM) and supplemental ABUS between January 2020 and December 2023. We excluded women without sufficient follow-up data or those without an established final diagnosis, including histopathologic results. The performance measures of DM alone and ABUS combined with DM (ABUS plus DM) were compared. The primary outcome was the cancer detection rate (CDR), and the secondary outcomes were sensitivity and specificity. Subgroup analyses were performed for women with scattered fibroglandular density and almost entirely fatty breasts. Results: A total of 2,904 pairs of screening examinations were performed in 1,683 women (59 ± 10 years), detecting 26 cancers. In comparison with DM alone, ABUS plus DM showed higher CDR (9.0 vs. 7.9 per 1,000 examinations, P < 0.001), higher sensitivity (100% [26/26] vs. 88.5% [23/26], P < 0.001), and lower specificity (95.0% [2,735/2,878] vs. 97.9% [2,817/2,878], P < 0.001). In women with scattered fibroglandular density, ABUS increased the CDR from 7.4 to 8.5 per 1,000 examinations and improved the sensitivity from 87.0% [20/23] to 100% [23/23] (P < 0.001). In women with almost entirely fatty breasts, ABUS plus DM showed the same CDR (16.4 per 1,000 examinations) and sensitivity (100% [3/3]) as DM alone. Three cancers (11.5% [3/26]), all of which were stage T1N0, were detected only by supplemental ABUS. Conclusion Supplemental ABUS improved cancer detection and sensitivity in women with nondense breasts, with the benefits primarily observed in those with scattered fibroglandular density.

Lumbar spinal stenosis (LSS) is a common degenerative spinal condition where spinal canal narrowing causes symptoms such as neurogenic claudication, radiculopathy, and lower back pain. While non-operative and surgical approaches yield similar long-term outcomes, surgical intervention—particularly decompression—can provide earlier symptom relief, functional recovery, and fall prevention in selected patients with refractory symptoms. Recent advancements in surgical technologies and image guidance have brought about a paradigm shift in LSS management. Biportal endoscopic spine surgery (BESS) has gained global traction as a minimally invasive alternative to traditional decompression methods, offering superior visualization, less soft tissue damage, shorter hospital stays, and faster recovery. High-quality studies, including randomized controlled trials, have shown promising outcomes for this technique. Furthermore, the integration of navigation systems, robot-assisted instrumentation, and artificial intelligence (AI)-driven diagnostics and surgical planning tools is transforming spinal surgery by enhancing precision in preoperative evaluation and intraoperative execution. These innovations enable accurate targeting, reduce complications, and improve reproducibility across diverse surgical settings. This review provides an updated overview of LSS, covering its pathophysiology, clinical assessment, diagnosis, and treatment. Special emphasis is placed on the growing role of BESS and the transformative impact of digital technologies such as navigation, robotics, and AI in the evolving landscape of spinal stenosis care.

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.

Background: The etiology of adolescent idiopathic scoliosis is multifactorial, and the influence of lifestyle factors such as sleep is not clearly understood. Differences in scoliosis incidence between urban and rural areas have been reported, but the contributing factors remain unclear. Therefore, this study investigated the association between sleep patterns and the incidence of idiopathic scoliosis and explored whether these patterns contribute to the observed urban-rural disparity. Methods: This retrospective study utilized data from the Korea Children and Youth Panel Survey (2010–2016) and the Health Insurance Review and Assessment Service for 4,693 students (age, 7–18 years). Various lifestyle factors including sleep patterns, learning time, and activity times, were compared between urban and rural areas, and a correlation analysis was performed between these factors and the age-specific incidence of idiopathic scoliosis. Results: Urban students, who exhibited higher idiopathic scoliosis incidence rates, tended to have later bedtimes and shorter total sleep durations than rural students. Longer learning hours were also observed in urban areas. Significant correlations were found between idiopathic scoliosis incidence and bedtime (p = 0.031), total sleep time (p = 0.026), and changes in total sleep time (p = 0.011). Conclusions Our findings indicate that later bedtimes and shorter sleep durations may contribute to idiopathic scoliosis development in children and adolescents. The higher idiopathic scoliosis incidence in urban students than in rural students could be partially explained by these sleep pattern differences, highlighting the need for further research into the role of sleep in scoliosis onset and prevention.

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: Sanger sequencing is a technology used to identify the gene sequence variants causing rare genetic disorders. However, designing and implementing a proficiency scheme for Sanger sequencing-based genetic testing is challenging because many molecular diagnostic laboratories are running sequencing tests for tens to hundreds of target genes. As such, we aimed to design and implement a method-based proficiency testing (PT) method for Sanger sequencing and to assess its feasibility in Korea. Methods: A pathogenic low density lipoprotein receptor (LDLR) variant was chosen as the positive PT material, and material without an LDLR variant was used as the negative PT material. We distributed the two PT materials with primer pair sets to 17 molecular diagnostic laboratories nationwide.We calculated the correct results (%) for variation type, zygosity, nucleotide change, amino acid change, variant classification, and clinical interpretation. Results: Fourteen laboratories responded to the survey. The results for the two PT materials were 100% correct for all evaluation points including variant type, zygosity, nucleotide change, amino acid change, variant classification, and clinical interpretation. Conclusions This pilot PT survey demonstrates a feasibility of using method-based PT for assessing the Sanger sequencing performance of molecular diagnostic laboratories in Korea.

Purpose: To report the findings of a perception survey on intestinal malrotation conducted by the Korean Association of Pediatric Surgeons (KAPS) in 2021. Methods: The perceptions on intestinal malrotation regarding clinical decision making of the KAPS members were collected through web-based survey. Results: A total of 22 surgeons were answered for this study. The results were presented and discussed at the 37th annual meeting of KAPS, which was held in Seoul on June 18, 2021. Conclusion This study provides the clinical decisions of the KAPS members on the intestinal malrotation. The study is expected to be an important reference for improving pediatric surgeons’ understanding and treatment of intestinal malrotation.