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: Esophagojejunal anastomotic leakage (EJAL) represents a severe postoperative complication following total or proximal gastrectomy. Treatment strategies include conservative management, endoscopic interventions, and surgery; however, comparative data remain limited. This study aimed to compare clinical outcomes of different strategies to identify the optimal approach based on anastomotic defect size. Materials and Methods: This retrospective study reviewed 100 patients diagnosed with EJAL between January 2015 and October 2024. Patients were categorized into four groups:conservative management, endoscopic vacuum-assisted closure (E-VAC), other endoscopic treatments, and surgery. The primary outcomes were leakage duration and length of hospital stay after EJAL diagnosis, whereas the secondary outcome was time to C-reactive protein normalization. Subgroup analyses were performed according to defect size. Results: Among the 100 patients, 76 were male and 24 were female, with a mean age of 65.7 years. Conservative treatment was the most common modality (53%), followed by other endoscopic treatments (19%), E-VAC (14%), and surgery (14%). In patients with a defect size <1 cm, conservative treatment was associated with significantly shorter leakage duration (P=0.035) and earlier resumption of diet (P=0.029) compared with endoscopic treatment.Among those with defects ≥2 cm, E-VAC demonstrated the most favorable median outcomes across all variables; however, statistical significance was not achieved because of the small sample size. Conclusions Conservative treatment appears to be the most effective treatment strategy for EJAL with anastomotic defects <1 cm. For larger defects (≥2 cm), E-VAC may offer clinical benefit, although further studies are needed to confirm its efficacy. These findings highlight the importance of individualized treatment selection based on defect size.

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.

Purpose: This study aimed to compare perioperative and postoperative outcomes of single-port laparoscopic articulated instrument-assisted versus da Vinci SP-assisted totally extraperitoneal (TEP) inguinal hernia repair using a propensity score-matched multi-institutional cohort. Methods: Between April 2022 and July 2025, 221 patients underwent TEP unilateral inguinal hernia repair at four institutions. Among them, 33 patients underwent da Vinci SP-assisted repair (Intuitive Surgical) and 188 underwent single-port laparoscopy using the articulated instrument, ArtiSential (LivsMed). Propensity score matching was performed in a 1:1 ratio based on demographic and clinical variables, resulting in 30 matched patients in each group. Perioperative outcomes and postoperative complications were analyzed. Results: After matching, baseline characteristics were well balanced between the groups.Operative time was significantly longer in the da Vinci SP group than in the ArtiSential group (median [interquartile range], 82.0 [67.5–105.0] vs. 35.0 [28.5–47.5] minutes; p < 0.001). No open conversions occurred, and conversions to transabdominal preperitoneal repair were rare and comparable. Mesh size selection differed significantly, with smaller meshes more frequently used in the da Vinci SP group (p < 0.001). Postoperative outcomes, including length of hospital stay, overall complication rates, chronic pain, and recurrence, were similar between the groups. No major complications, readmissions, or reoperations were observed. Conclusion Articulated instrument-assisted TEP inguinal hernia repair demonstrated a significantly shorter operative time than da Vinci SP-assisted repair, while perioperative safety and postoperative outcomes were comparable.

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: 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.

Midline palatal fractures compromise maxillary transverse stability and cause oro-nasal communication. We report a successful minimally invasive reconstruction based on AO CMF principles. A 60-year-old male with Le Fort II and midline palatal fractures following a fall exhibited nasal regurgitation. Associated facial fractures were managed conservatively, while the palatal fracture was addressed with a customized acrylic splint fabricated via model-based virtual surgery to restore pre-traumatic occlusion.Intraoperatively, segments were repositioned through manual reduction, followed by intermolar wire ligation and splint fixation. Nasal regurgitation resolved by postoperative day 4. Evaluation at 10 days confirmed anatomical arch width restoration. Stable occlusion was maintained throughout the 6-week splinting period. Closed reduction using customized splints and interdental ligation is an effective, minimally invasive alternative for managing midline palatal fractures, particularly when open reduction is challenging.

Background: The inflammasome, a multiprotein complex, is crucial in the pathogenesis of various autoinflammatory disorders. In particular, the NOD-like receptor family pyrin domain-containing 3 (NLRP3) inflammasome has recently been associated with diseases such as psoriasis, vitiligo, lupus, and alopecia areata (AA). Objective: The objective of this study is to investigate the potential involvement of the inflammasome in the pathogenesis of AA and to determine its correlation with clinical manifestations. Methods: A total of 144 patients with AA and 22 healthy controls were included. Scalp skin and serum samples were collected to assess the levels of NLRP3-related molecules in lesional tissue and blood, respectively. Additionally, we performed immunostaining to measure the expression of NLRP3 and caspase-1 in the outer root sheath (ORS). Results: Lesional interleukin-1β expression was significantly elevated in patients with AA at all stages compared with controls. In the progressive stage, lesional C-X-C motif chemokine ligand 10 levels were markedly higher than those in controls and other stages. Serum interferon-γ levels were also significantly increased during the progressive stage of AA compared with controls. Immunostaining revealed strong NLRP3 and caspase-1 positivity in the ORS during the initial and progressive stages of AA, in contrast to the recovery stage. Conclusion These results highlight the functional role of the inflammasomes in the pathogenesis of AA.

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: Sentinel lymph node biopsy (SLNB) using dye and isotope (DUAL) is recommended over the dye-only (DYE) method after neoadjuvant chemotherapy (NCT) due to potentially lower false-negative rates. However, the long-term outcome of either method is unclear. We aimed to compare the long-term oncological outcomes of DYE versus DUAL SLNB methods in patients who received NCT. Materials and Methods: In this retrospective cohort study, 893 patients who underwent SLNB following NCT and had pathologically negative lymph nodes were included. After propensity score matching for cT, cN, and pT categories, 280 patients were in the DYE group and 560 in the DUAL group. Indigo carmine was used for dye and Tc-99m antimony trisulfate for isotope mapping. Results: Median follow-up was 75.6 months in the DYE group and 83.0 months in the DUAL group. Mean (±standard deviation) number of harvested sentinel nodes was 6.7 (±3.9) and 6.7 (±3.3) in the DYE and DUAL groups (p=0.875). Five-year distant metastasisfree survival was 95.2% in DYE group and 93.3% in DUAL group (hazard ratio [HR], 1.45; 95% confidence interval [CI], 0.82 to 2.57; p=0.192). Disease-free survival (HR, 0.97; 95% CI, 0.69 to 1.50; p=0.914) and overall survival (HR, 0.98; 95% CI, 0.56 to 1.69; p=0.954) were not significantly different. Axillary recurrence rate was 1.8% and 2.5% in DYE and DUAL groups (p=0.647). Conclusion Long-term oncological outcomes did not significantly differ between DYE and DUAL SLNB methods. The dye-only method can be safely recommended for breast cancer patients who received NCT.