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.

Osteoid osteoma accounts for approximately 10% of all benign bone tumors, but only approximately 4% of cases occur in the foot and ankle area. Periarticular osteoid osteoma frequently manifests with nonspecific clinical symptoms that mimic other conditions, potentially leading clinicians down a diagnostic side path and resulting in delayed or missed diagnoses compared to extra-articular osteoid osteoma. Although plain radiographs may show nonspecific findings, magnetic resonance imaging can detect bone marrow edema and surrounding soft tissue changes. Computed tomography is the most accurate modality for diagnosis. This paper reports the case of a 26-year-old female diagnosed with periarticular osteoid osteoma of the calcaneus and was treated with arthroscopic localized curettage at the author’s institution.

Severe midfoot Charcot neuroarthropathy (CN) presents a significant surgical challenge because of extensive bone loss and poor bone quality. This report presents the outcome of a case treated with realignment arthrodesis using a superconstruct technique, supplemented by the postoperative use of denosumab. A patient with Eichenholtz Stage III CN (Brodsky Type 1 and 2) underwent a single-stage surgical reconstruction. Postoperatively, denosumab was administered to enhance bone stability. The 1-year and 1-month follow-up showed that the severe deformity had been successfully corrected to a stable, plantigrade foot, confirmed by radiographic and clinical evaluation.This case suggests that a combined surgical approach using a superconstruct with adjuvant denosumab can be an effective treatment for severe midfoot CN.

Probiotics have gained increasing clinical attention as adjunctive treatment for lower gastrointestinal disorders. However, evidence supporting their therapeutic efficacy remains limited, particularly with regard to sex-related differences. This expert review provides evidence-based insights and practical recommendations for the use of probiotics in patients with irritable bowel syndrome (IBS), functional constipation (FC), and Clostridioides difficile infection (CDI), considering possible sex-related differences. Evidence from randomized controlled trials and meta-analyses indicates that probiotics can modestly improve global symptoms, abdominal pain, and bloating in IBS and enhance bowel movement frequency and stool consistency in FC. However, these effects are strain-specific and heterogeneous. Although clinical studies on probiotics in IBS have not confirmed significant sex-related differences, experimental animal studies using stress-induced IBS models have demonstrated sex-dependent responses to specific probiotic strains, supporting the biological plausibility of such differences. For CDI, the efficacy of probiotics in preventing primary or recurrent infections remains inconsistent across large trials, and current guidelines usually do not recommend their routine use. However, sex and age difference of immunology supports the clinical differences of CDI. Probiotics are generally considered safe for healthy individuals, although caution is advised in patients who are immunocompromised or critically ill. Clinicians should select probiotic products based on strain-specific clinical evidence, adequate viable doses, patient's characteristics, or patient’s sex. In conclusion, probiotics might play a role as adjunctive therapy for IBS and FC, with variability in responses influenced by microbial, host, and potential sex-related factors. Further research is needed to establish optimized personalized probiotic strategies.

Purpose: We evaluated the therapeutic efficacy of adalimumab in patients with refractory ocular toxocariasis (OT).Case summary: Three patients with recurrent OT who experienced frequent relapses or intolerance to corticosteroids and immunosuppressants were treated with adalimumab. All three achieved improved control of intraocular inflammation, a marked reduction in relapse rate (from 2.48 to 0.14 per year), and complete discontinuation of systemic corticosteroids and immunosuppressants by the final follow-up. No adverse events were observed during adalimumab treatment. Cases 1 (bilateral panuveitis), 2 (intermediate uveitis), and 3 (neuroretinitis) each demonstrated clinical improvement or stabilization following adalimumab initiation, with remission sustained for 30–62 months. Conclusions Adalimumab is effective in controlling inflammation and preventing recurrence in patients with refractory OT unresponsive to conventional therapy. It may offer a viable steroid-sparing option for managing chronic inflammation in OT.

Myopia, particularly high myopia, is a significant risk factor for several ocular pathologies including cataract, glaucoma, and retinal detachment. Excessive axial elongation associated with high myopia can induce biomechanical stretching, increasing the risk of serious complications like posterior staphyloma and myopic maculopathy. Global meta-analyses estimate that approximately 10 million people were visually impaired due to myopic maculopathy in 2015, with 3 million being blind. Recent nationwide surveys in South Korea revealed a prevalence of 65.4% for myopia and 6.9% for high myopia in children and adolescents, highlighting the urgent need for effective management. Delaying the onset and slowing the progression of myopia during childhood and adolescence is crucial for reducing the potential lifetime risk of these complications. This consensus statement, prepared by the Korean Myopia Society for the Korean Association for Pediatric Ophthalmology and Strabismus (KAPOS), reviews the current evidence for myopia control interventions and provides management strategies applicable to the South Korean clinical setting. Key interventions covered include lifestyle modifications (outdoor time, near work adjustment), optical methods (myopia-control spectacle lenses, dual-focus soft contact lenses, orthokeratology), and pharmacologic treatment (low-concentration atropine), as well as combination therapies. The statement also addresses patient selection, treatment outcome evaluation using spherical equivalent and axial length changes, and the crucial aspects related to treatment cessation and the rebound effect.

Purpose: To introduce subepithelial pterygium pedicle (SPP) and to investigate the effect of SPP length on the anterior corneal curvature including keratometry and aberrations. Methods: In this single-center retrospective cohort, 72 eyes of 72 patients with primary nasal pterygium were analyzed using anterior segment (AS) swept-source optical coherence tomography (SS-OCT; Anterion). We evaluated SPP length, horizontal invasion length (HIL), and corneal profiles including keratometry, root mean square values for lower- and higher-order aberrations, and first- to fourth-order wavefront aberrations. Correlations between SPP length and these parameters were assessed after adjusting for HIL. The SPP cutoff for significant anterior horizontal tilt deterioration was determined using receiver operating characteristic (ROC) analysis and validated by analysis of covariance controlling for HIL. Results: SPP was detected in 57 of 72 eyes (79.2%), with a mean length of 842.3 ± 408.1 μm. A significant positive correlation was found between SPP length and HIL (r = 0.376, p = 0.001). After adjusting for HIL, SPP length remained significantly associated with anterior corneal horizontal tilt (p = 0.026), whereas no significant correlations were observed with other refractive or aberration parameters. ROC curve analysis identified an SPP length of approximately 850 μm as the threshold for predicting anterior horizontal tilt ≥3.65 μm. Consequently, this cutoff significantly differentiated subgroups after adjusting for HIL, showing a marked increase in horizontal tilt in eyes with SPP ≥850 μm (p = 0.016), indicating mechanical distortion. Conclusions SPP length, a subepithelial microstructural parameter visualized by AS SS-OCT, independently correlates with anterior horizontal tilt after adjustment for HIL. This finding suggests that SPP length serves as a microstructural indicator of horizontal mechanical corneal distortion in eyes with pterygium.

Purpose: To characterize perioperative changes in posterior corneal curvature (PCC) following pterygium excision using anterior segment (AS) swept-source optical coherence tomography (SS-OCT), and to identify the critical threshold of horizontal invasion length (HIL) predicting significant PCC alterations. Methods: This retrospective cohort study included 85 eyes of 77 patients with primary nasal pterygium. PCC parameters, including posterior keratometry (K) average, posterior steep K, posterior flat K and posterior corneal astigmatism, were measured preoperatively and postoperatively using AS SS-OCT (Anterion). Perioperative PCC changes were analyzed in relation to HIL and postoperative duration. Subgroup analyses were performed to identify the HIL cutoff value associated with statistically significant changes in posterior K average. Results: Significant postoperative flattening was observed in both posterior K average (from –6.27 ± 0.24 to –6.23 ± 0.23 diopters [D], p < 0.001) and posterior flat K (from –6.14 ± 0.23 to –6.09 ± 0.23 D, p < 0.001), accompanied by a significant increase in posterior corneal astigmatism (from –0.25 ± 0.12 to –0.29 ± 0.17 D, p = 0.003). The magnitude of posterior flattening showed a significant positive correlation with HIL (r = 0.384, p < 0.001) but was not correlated with postoperative duration (p = 0.428). In subgroup analysis, eyes with HIL ≥3.5 mm exhibited a significant change in posterior K average (p < 0.001), whereas those with HIL <3.0 mm and HIL <3.5 mm showed no significant change (p = 0.065 and p = 0.443, respectively). Conclusions Pterygium excision leads to significant posterior corneal flattening proportional to HIL, with 3.5 mm identified as a clinically relevant cutoff. Although the refractive impact may be subtle, surgeons should be aware of these posterior corneal changes as a consistent morphological response, especially in eyes with HIL ≥3.5 mm.

Purpose: To determine the corneal stabilization timeline after pterygium excision adjusted for horizontal invasion length (HIL). Methods: In this single-center retrospective cohort study, we analyzed 88 eyes of 80 patients with nasal or temporal primary pterygium who underwent excision and perioperative evaluation with anterior segment (AS) swept-source optical coherence tomography (SS-OCT; Anterion). Anterior simulated mean keratometry (SimKmean; 3-mm ring) and HIL were measured on AS SS-OCT. Keratometric stabilization was assessed at postoperative cutoffs of 8, 12, 16, 20, and 24 weeks using analysis of covariance (ANCOVA) with HIL as a covariate. Subgroup analysis was performed after stratifying by the median HIL (3.82 mm). Results: Mean anterior SimKmean increased from 42.95 ± 1.79 diopters (D) preoperatively to 43.73 ± 1.53 D postoperatively (p < 0.001). Preoperative HIL correlated positively with the perioperative SimKmean change (r = 0.728, p < 0.001). While postoperative duration showed no significant unadjusted correlation with keratometric change (r = −0.133, p = 0.218), partial correlation controlling for HIL was negative (r = −0.248, p = 0.021), indicating diminishing change over time after severity adjustment. ANCOVA demonstrated significant stabilization at 16 weeks (p = 0.036). In the HIL ≥3.82 mm subgroup, SimKmean change was greater before 20 weeks than after 20 weeks (1.73 ± 1.59 D vs. 0.59 ± 0.74 D, p = 0.030), whereas no significant time-point differences were found for HIL <3.82 mm. Conclusions Corneal keratometric stabilization after pterygium excision depends on preoperative HIL. A minimum of 16 weeks is recommended before cataract surgery planning, with at least 20 weeks for eyes with HIL ≥3.82 mm.