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.

Subglottic stenosis (SGS) and tracheal stenosis (TS) are rare conditions that can cause significant breathing difficulties and, if not properly managed, may lead to life-threatening complications. Despite their clinical importance, debate continues regarding the optimal management of adult SGS and TS, and no comprehensive guidelines have been established to date. The Korean Bronchoesophagological Society appointed a task force to develop clinical practice guidelines with the goal of providing evidence-based recommendations for managing SGS and TS in adults. The task force conducted a systematic review of the relevant literature by searching PubMed, Embase, and the Cochrane Library using predefined search terms aligned with key clinical questions. The quality of evidence was assessed using the Grading of Recommendations, Assessment, Development, and Evaluation (GRADE) approach, which also informed the formulation and reporting of the recommendations. The strength of each recommendation reflects the guideline panel’s confidence that the benefits of an intervention outweigh its risks for eligible patients. After drafting the guidelines, feedback was obtained through Delphi questionnaires completed by members of the Korean Bronchoesophagological Society. Ultimately, the committee developed 17 evidence-based recommendations across four categories: initial evaluation, medical management, surgical treatment, and postoperative management and rehabilitation. These guidelines aim to support clinicians in delivering optimal care to adult patients with SGS and TS.

Pharmacogenomic variations may significantly influence responses to commonly prescribed stroke medications. Despite accumulating evidence, genetic testing has not yet been widely integrated into stroke care. This review summarizes current evidence and provides practical guidance for clinical implementation. Pharmacogenomic studies and clinical guidelines related to antiplatelet agents, anticoagulants, and statins were reviewed, with particular emphasis on East Asian populations. Substantial evidence supports genotype-guided use of clopidogrel (CYP2C19), warfarin (CYP2C9, VKORC1, CYP4F2), and statins (SLCO1B1, ABCG2). For aspirin, PTGS1/2 and PEAR1 variants have been investigated; however, current data remain insufficient for clinical application. Regarding direct oral anticoagulants (DOACs), candidate genes such as ABCB1 and CES1 demonstrate pharmacokinetic associations, though robust clinical outcome data are lacking. Distinct allele frequencies in East Asians—such as higher prevalence of CYP2C19 and ABCG2 variants—underscore the need for population-specific strategies. Beyond single-gene approaches, polygenic risk scores, pharmacogenomic panels, and integration with multi-omics data and artificial intelligence represent promising directions for personalized therapy. Pharmacogenomic testing can enhance stroke pharmacotherapy, particularly in populations with high frequencies of actionable variants. Broader implementation requires rapid testing platforms, clinician education, tailored clinical guidelines, and real-world validation of aspirin, DOACs, and multi-gene approaches. Future research should expand population-specific studies and integrate pharmacogenomics within the broader framework of precision medicine to ensure equitable clinical benefit.

Purpose: Radiotherapy (RT) remains a cornerstone of curative treatment for localized and locally advanced prostate cancer. However, dose escalation to improve tumor control is often constrained by the proximity of the rectum, which increases the risk of gastrointestinal (GI) and genitourinary toxicities. Biodegradable rectal spacers inserted between the prostate and rectum have emerged as an effective approach to reduce rectal radiation exposure. This guideline provides evidence-based recommendations on indications, contraindications, procedural standards, and clinical management for biodegradable rectal spacer insertion during prostate cancer RT. Materials and Methods: This guideline was developed by a multidisciplinary expert panel through a systematic review of the literature, analysis of international guidelines (National Comprehensive Cancer Network, European Association of Urology, American Society for Radiation Oncology), and expert consensus among radiation oncologists, radiologists, and urologists with clinical experience in spacer insertion. The strength of each recommendation and the level of evidence were classified according to the modified GRADE (Grading of Recommendations, Assessment, Development, and Evaluation) system. Results: Spacer insertion is conditionally recommended (Grade C, Level I) for patients receiving definitive external-beam RT without rectal invasion. It reduces the high-dose rectal irradiation volume (V70–75) by >50%, decreases acute GI toxicity, and helps maintain bowel-related quality of life. However, the benefit for late severe toxicity (grade 2 or higher) remains debated in recent meta-analyses. Contraindications include rectal invasion, anatomical inaccessibility, infection, and material hypersensitivity. Procedures should be performed under local anesthesia in a sterile environment by trained physicians. Short-course antibiotics and simulator-based training, including completion of multiple supervised cases, are advised. Conclusion Biodegradable rectal spacer insertion is clinically validated and effective in reducing acute rectal toxicity. Although pivotal trials demonstrated a favorable procedural safety profile, real-world postmarket data include reports of rare but severe procedural complications. This guideline provides standardized recommendations tailored to Korean clinical practice while remaining consistent with international standards, emphasizing the importance of operator training and careful patient selection.

BACKGROUND: Endometrial damage is a critical factor contributing to infertility, particularly in women with refractory thin endometrium or intrauterine adhesions. Therefore, developing innovative therapeutic strategies for endometrial regeneration is essential. This study evaluates the regenerative potential of endometrial stromal cell (EMSC) injection and EMSC-loaded patch application in a mouse model with ethanol-induced endometrial damage. METHODS: A mouse model of endometrial damage was established using ethanol injection into the uterine horn. EMSCs were isolated, cultured, and either HA-injected into the damaged endometrium or transplanted via a small intestinal submucosa (SIS)-based EMSC patch. Histological analyses were performed to assess endometrial thickness, gland regeneration, and fibrosis reduction. RESULTS: Both EMSC injection and SIS-based EMSC patch engraftment promoted endometrial regeneration. However, the SIS-based EMSC patch group exhibited significant improvements in endometrial thickness, gland formation, and fibrosis reduction compared to the EMSC injection group. CONCLUSIONS This study demonstrates the superior regenerative potential of an SIS-based EMSC patch over direct EMSC injection for endometrial repair. The findings suggest that scaffold-assisted cell therapy could be a promising approach for treating endometrial damage-related infertility. Further studies are required to optimize this strategy for clinical applications.

Objective: To analyze the microbiological and clinical characteristics of vulvovaginitis in girls, distinguishing between the premenarcheal and postmenarcheal groups in a tertiary center in South Korea. Methods: This retrospective cohort study included 195 patients under 20 years of age diagnosed with vulvovaginitis at a tertiary hospital between 2014 and 2023. The patients were categorized into premenarcheal (n=95) and postmenarcheal (n=100) groups. Data on initial symptoms, microbial cultures, and treatment methods were analyzed. Results: The most common initial symptom was vaginal discharge, reported in 63.1% of cases. Culture results showed a 51.3% positivity rate for any microorganism, with a prevalence of gram-negative rods (32.8%) and gram-positive cocci (14.4%). The most frequently isolated microorganisms were Escherichia coli (17.9%), Candida albicans (7.7%), and Enterococcus faecalis (6.7%). Gram-negative rods were more common in the premenarcheal group (37.1% vs. 25.0%; p=0.01). No significant differences were observed in the prevalence of gram-positive cocci and Candida species between the two groups (16.8% vs. 12.0%, p=0.22; 6.3% vs. 13.0%, p=0.09; respectively). The susceptibilities of grampositive microorganisms to penicillin, oxacillin, clindamycin, vancomycin, and tetracycline were 58.8%, 58.3%, 94.7%, 100.0%, and 73.7%, respectively. The susceptibilities of gram-negative microorganisms to amoxicillin/clavulanic acid, ciprofloxacin, ceftriaxone, and nitrofurantoin were 89.3%, 85.3%, 76.0%, and 100.0%, respectively. Conclusion This study identified differences in the microbial profiles associated with vulvovaginitis between premenarcheal and postmenarcheal girls. Age-specific and history-based clinical approaches tailored to menarcheal status are warranted to improve the management and outcomes of pediatric and adolescent vulvovaginitis.

Background: Emergency department (ED) overcrowding poses a global challenge, particularly for critically ill patients requiring intensive care unit (ICU) admission. Although delays in ICU transfer increase mortality in critically ill populations, the optimal timing for septic shock remains uncertain. Methods: We conducted a target trial emulation using a prospective cohort of 815 septic shock patients from 19 Korean hospitals. Delayed ICU transfer was defined using restricted cubic splines. The primary outcome was in-hospital mortality. Multivariable logistic regression and inverse probability treatment weighting were used to adjust for confounders of age, sex, comorbidities, severity of illness, and mechanical ventilation use. Subgroup analyses were performed to assess the effect across patient characteristics. Results: The median time of ED-to-ICU transfer was 6.7 hours (interquartile range, 4.7–11.4), and only 7% of patients were transferred within 3 hours. ICU transfer within 3 hours was associated with significantly lower in-hospital mortality (odds ratio, 0.48; 95% CI, 0.24–0.94) compared to later transfers. Mortality risk increased with elapsing time up to 6 hours and then plateaued. The benefit of early ICU transfer was consistent across subgroups but was particularly pronounced in patients requiring extracorporeal membrane oxygenation or continuous renal replacement therapy (P for interaction=0.02). Conclusions Early ICU transfer within 3 hours significantly reduces mortality in patients with septic shock, with the greatest benefit observed in those requiring advanced organ support. These findings highlight the need for system-wide strategies to reduce ED boarding time and prioritize timely ICU admission for septic shock management.

Background: With increasing life expectancy, the number of older adults with multiple chronic conditions requiring complex medication regimens is growing, raising concerns about polypharmacy and potentially inappropriate medication (PIM) use. This study investigated trends in polypharmacy and PIM use among 66-year-olds in South Korea from 2012 to 2021, considering participant characteristics, to inform interventions and policies. Methods: A repeated cross-sectional study was conducted using the National Health Insurance Services database covering approximately 97% of Koreans. We included 3,397,044 individuals aged 66 who underwent the National Screening Program for Transitional Ages between 2012 and 2021. Polypharmacy was defined as the use of ≥5 medications for ≥90 days annually, hyper-polypharmacy as ≥10 medications, and PIM use as ≥1 PIM for ≥28 days. Trends were analyzed by sex, frailty, comorbidity, income, insurance type, and residence. Results: Polypharmacy prevalence increased from 32.0% in 2012 to 35.4% in 2021, and hyper-polypharmacy also rose. PIM use slightly decreased from 55.7% to 53.7%. Higher rates of polypharmacy and PIM use were observed among rural residents, medical aid beneficiaries, and those with lower income. Despite improvements in comorbidity and frailty, socioeconomic disparities widened, particularly among medical aid beneficiaries. Frequently prescribed PIMs included NSAIDs, PPIs, muscle relaxants, and anxiolytics/hypnotics. Conclusion While PIM use slightly decreased over the study period, it remained above 50%, and polypharmacy prevalence increased among older adults in Korea. Socioeconomic disparities in medication use persist, highlighting the need for targeted interventions and policies to promote safe medication use among vulnerable groups.

Objective: To investigate the prevalence of pathological findings and clinical outcomes of riskreducing salpingo-oophorectomy (RRSO) in asymptomatic carriers with germline homologous recombination repair (HRR) gene pathogenic/likely pathogenic variants (PV/LPV). Methods: This retrospective study enrolled asymptomatic carriers with germline HR gene PV/ LPV who underwent RRSO between 2006 and 2022 at the National Cancer Center in Korea.Clinical characteristics, including history of breast cancer, family history of ovarian/breast cancer, parity, and oral contraceptive use, were analyzed. Results: Of the 255 women who underwent RRSO, 129 (50.6%) had PV/LPV in BRCA1, 121 (47.5%) in BRCA2, and 2 (0.7%) had both BRCA1 and BRCA2 PV/LPV. In addition, 1 carried PV/ LPV in RAD51D, and 2 in BRIP1. Among the BRCA1/2 PV/LPV carriers, occult neoplasms were identified in 3.5% of patients: serous tubal intraepithelial carcinoma (1.1%, n=3), fallopian tubal cancers (0.8%, n=2), ovarian cancer (1.2%, n=3), and breast cancer (0.4%, n=1). Of the 9 patients with occult neoplasms, 5 (2.0%) were identified from the 178 breast cancer patients, and 4 (1.6%) were detected in 65 healthy mutation carriers. During the median follow-up period of 36.7 months (interquartile range, 25.9–71.4), 1 (0.4%) BRCA1 PV carrier with no precursor lesions at RRSO developed primary peritoneal carcinomatosis after 30.1 months. Conclusion Women with HRR gene mutations PV/LPV who undergo RRSO are at a risk of detecting occult neoplasms, with a of 3.5%. Even in the absence of precursor lesions during RRSO, there was a cumulative risk of peritoneal carcinomatosis development, emphasizing the need for continued surveillance.

Patients with ectodermal dysplasia often have atrophied alveolar bone and an inadequate maxillomandibular relationship owing to congenital edentulism.Accurate implant placement that can overcomes anatomical limitations and orthognathic surgery to improve the maxillomandibular relationship is necessary for creating implant-supported prosthesis for these patients. Implant placement and provisional prosthesis fabrication before orthognathic surgery can provide critical fixed reference points and ensure accuracy during orthognathic surgery.In our patient, a digital system was used to design a surgical guide that considered the predictable position of the definitive prosthesis, allowing the placement of implants to overcome anatomical limitations and the creation of fixed reference points via the delivery of a provisional prosthesis for effective orthognathic surgery. The lack of compensation during orthognathic surgery was considered in the definitive prosthesis. As a result, a prosthesis with a minimal anterior cantilever was fabricated. This study aimed to determine the appropriate sequence of multidisciplinary collaborations that would, result in the best functional and aesthetic outcomes.