Background: Retinitis pigmentosa (RP) comprises a heterogeneous group of inherited retinal dystrophies. The genetic landscape of RP has been characterized; however, knowledge gaps regarding age-specific genetic variation trends in Korean patients remain. We comprehensively characterized the age-stratified genetic landscape of RP in Korean patients, with a focus on identifying novel mutational trends and clinically actionable insights. Methods: We performed targeted next-generation sequencing of 199 genes associated with RP and related disorders in a cohort of 403 unrelated patients clinically diagnosed as having RP. We analyzed the inheritance patterns, variation spectrum, and prevalence of pathogenic variants, stratifying the results by age, and conducted copy number variation (CNV) analysis. Results: A genetic diagnosis was achieved for 193 of the 403 patients (48%). The diagnostic yield was highest in patients diagnosed before 20 yrs of age (60%), with lower yields in older age groups. Although USH2A and EYS, the most common causative genes in autosomal recessive inheritance, were frequently identified, RPGR pathogenic variants accounted for a significantly larger proportion of genetically solved cases diagnosed before the age of 20 yrs (27%–28%) than in those with later-onset disease (9%–15%). CNVs were identified in 4% of genetically solved cases. Conclusions The results underscore distinct, age-related genetic contributions to RP in Korean patients, with RPGR variants demonstrating relevance in early-onset disease, and provide diagnostic insights to improve current practices. These findings can aid in prioritizing gene therapy targets and refining screening strategies.

Purpose: Laparoscopic appendectomy, a routine surgical procedure for acute appendicitis, is commonly performed in general hospitals. However, postoperative outcomes based on surgical subspecialty have not been well established. This study aimed to compare surgical outcomes of laparoscopic appendectomy across different surgical subspecialties using risk-adjusted cumulative summation (RA-CUSUM) analysis. Methods: A retrospective analysis was conducted on 631 patients undergoing laparoscopic appendectomy between July 2020 and December 2022. Surgeons were categorized into gastrointestinal (GI) or non-GI groups and senior or young groups. Surgical failure was defined as operation time exceeding the mean plus 2 standard deviations, presence of postoperative complications, or readmission within 30 days after surgery. RA-CUSUM analysis was employed to evaluate surgical failure within each group. Results: The GI group performed more partial cecectomies (P = 0.017) and had longer operation times (P = 0.019) than the non-GI group. The senior group exhibited shorter operation time (P < 0.001), reduced length of stay (P = 0.011), and a higher complication rate (P < 0.001) than the young group. RA-CUSUM analysis indicated a decrease in surgical failure as accumulation progressed in both senior and young groups, as well as in the GI and non-GI groups. Conclusion Outcomes of laparoscopic appendectomy varied by subspecialty and length of experience. However, each surgeon showed trends of decreasing surgical failure over time. These results suggest that the surgeon’s subspecialty minimally affects the outcomes of laparoscopic appendectomy, reflecting its fundamental nature within general surgery.

Background: Previous studies have demonstrated the inhibitory effect of hydrogen-rich water on biofilm formation. However, hydrogen-rich electrolyzed water (HEW) has not been evaluated as mouthwash, despite being economical, convenient, and biologically safe. We assessed the antibiofilm effects of HEW on Streptococcus mutans and its potential as a mouthwash. Methods: The effect of HEW on S. mutans growth was assessed by measuring bacterial colony-forming units, and biofilm formation capacity was examined by crystal violet staining after culturing on a polystyrene plate. The effect of HEW on biofilm formation-related gene expression in S. mutans was assessed by real-time polymerase chain reaction. Finally, the effect of HEW on salivary S. mutans and plaque maturation was evaluated in 24 participants; after gargling with HEW twice daily, the salivary S. mutans count was quantified using a Caries Risk Test bacteria kit (Ivoclar Vivadent AG), and plaque maturation was compared using quantitative light-induced fluorescence imaging. Results: Exposure to HEW resulted in no significant changes in S. mutans growth but a significant reduction in biofilm formation in vitro (p<0.001). Furthermore, the gene expression of glucosyltransferases (gtfB, gtfC) was significantly lower than that in the control group treated with tap water (p<0.05, p<0.01). S. mutans counts and plaque maturation were significantly lower in participants who gargled with HEW than in those who gargled with tap water (p<0.01). Conclusion Our data suggest that oral rinsing with HEW exerts antibiofilm effects on S. mutans, indicating that it can be used as a mouthwash to treat dental biofilm-dependent diseases.

Purpose: Biliary atresia (BA) is a rare but progressive cholangiopathy and the leading cause of pediatric liver transplantation worldwide. The Korean Association of Pediatric Surgeons (KAPS) has conducted three national surveys (2001, 2011, and 2023) to assess long-term trends in the diagnosis, treatment, and outcomes of BA. This study provides a comparative analysis of the 2nd and 3rd national surveys, with reference to selected findings from the 1st survey. Methods: This study included 453 patients from the 3rd national survey (2011–2021) and 435 patients from the 2nd survey (2001–2010), all of whom underwent Kasai portoenterostomy. Data were collected via electronic case report forms from pediatric surgical centers nationwide. Comparisons were made regarding demographics, clinical features, diagnostic patterns, operative details, follow-up outcomes, and survival. Kaplan–Meier analysis was used to evaluate long-term survival. Results: The mean number of BA patients per year remained stable between surveys (43.5 in the 2nd, 41.18 in the 3rd), though centralization of care increased, with 61.5% of cases managed by two major institutions in the 3rd survey. The median age at surgery decreased, and the use of preoperative imaging (especially magnetic resonance cholangiopancreatography) increased. The 10-year native liver survival rate declined from 59.8% to 53.7%, while overall 10-year survival improved slightly (92.9% to 93.2%). Postoperative complications, such as cholangitis and liver failure, persisted but were better categorized. The 3rd survey also reported improved mortality (4.9%) and reduced follow-up loss (11.5%) compared to the 2nd survey. Conclusion While overall survival after Kasai operation has remained high and even improved, native liver survival has slightly declined. The findings reflect earlier diagnosis, more consistent diagnostic imaging, and increasing centralization of care. These trends underscore the importance of long-term nationwide data collection in guiding future strategies for BA management in Korea.

Purpose: This study aims to investigate and compare the incidence, demographic characteristics, clinical manifestations, preoperative diagnostic methods, anatomical classifications, associated anomalies, operative treatments, and postoperative outcomes of patients with intestinal atresia treated by the members of the Korean Association of Pediatric Surgeons (KAPS) through three nationwide surveys. Methods: KAPS conducted 3 national surveys in 1998, 2010, and 2024 to examine the patients diagnosed with intestinal atresia. In preparation for the survey, we developed a customized case registration form to obtain data on patient sex, birth weight, gestational age, clinical manifestations, preoperative diagnostic methods, anatomical types, associated anomalies, operative treatments, and postoperative outcomes. Authorized KAPS members completed the case registration form. Results: The first, second, and third national surveys included 218, 222, and 236 individuals diagnosed with intestinal atresia, respectively. The male-to-female ratios were 1.5:1, 1.1:1, and 1.1:1, respectively. The first, second, and third national surveys revealed that 34.3%, 43.3%, and 53.4% of patients were born before 37 weeks of gestation, respectively. Additionally, 28.7%, 32.0%, and 40.7% of patients had a birth weight under 2,500 g. In the third national survey, duodenoduodenostomy was the most common procedure, performed in 70 out of 82 patients diagnosed with duodenal atresia. Resection and anastomosis were the main surgical procedures conducted in 47 out of 54 cases of jejunal atresia and 74 out of 92 cases of ileal atresia. The mortality rates in the first, second, and third national surveys were 13.8%, 3.6%, and 1.3% respectively, with the lowest rate observed in the third national survey. Conclusion These national surveys offer valuable insights into the current state of intestinal atresia, including specific surgical interventions and postoperative outcomes in South Korea. For pediatric surgeons aiming to enhance their understanding of intestinal atresia and its treatment options, these surveys could be an indispensable resource and guide.

Purpose: To investigate the effects of simultaneous soft and hard tissue augmentation and the addition of polydeoxyribonucleotide (PDRN) on regenerative outcomes. Materials and Methods: In five mongrel dogs, chronic ridge defects were established in both mandibles. Six implants were placed in the mandible, producing buccal dehiscence defects. The implants were randomly allocated to one of the following groups: 1) control: no treatment; 2) GBR: guided bone regeneration (GBR) only; 3) GBR/PDRN: GBR+PDRN application to bone substitute particles; 4) GBR/CTG: GBR+connective tissue grafting (CTG);5) GBR/VCMX: GBR+soft tissue augmentation using volume stable collagen matrix (VCMX); and 6) group GBR/VCMX/ PDRN: GBR+VCMX soaked with PDRN. The healing abutments were connected to the implants to provide additional room for tissue regeneration. Submerged healing was achieved. The animals were euthanized after four months. Histological and histomorphometric analyses were then performed. Results: Healing abutments were gradually exposed during the healing period. Histologically, minimal new bone formation was observed in the dehiscence defects. No specific differences were found between the groups regarding collagen fiber orientation and density in the augmented area. No traces of CTG or VCMX were detected. Histomorphometrically, the mean tissue thickness was greater in the control group than in the other groups above the implant shoulder (IS). Below the IS level, the CTG and PDRN groups exhibited more favorable tissue thickness than the other groups. Conclusion Failure of submerged healing after tissue augmentation deteriorated the tissue contour. PDRN appears to have a positive effect on soft tissues.