Purpose: Breast cancer gene (BRCA) mutation is a well-known risk factor for breast cancer, and clinical interest in prophylactic mastectomy has increased in recent years.We investigated patients who were BRCA mutation carriers and underwent contralateral risk-reducing mastectomy (RRM), focusing on the incidence of occult malignancy after contralateral RRM. Methods: Prospectively collected data of patients with breast cancer treated at a single institution were retrospectively reviewed. Patients who underwent RRM with BRCA mutation who underwent RRM between January 2010 and November 2023 were included in this study.Among patients who underwent contralateral RRM, those with a primary cancer diagnosis were included, and those with occult malignancy on the contralateral RRM side were reviewed additionally. The demographics and pathologies of both primary breast cancer and occult malignancies were evaluated. Results: In our institution, 925 patients were identified as BRCA mutation carriers, and 320 patients underwent contralateral RRM along with primary breast cancer surgery. BRCA2 mutation occurred more frequently (54.8%) in the overall BRCA mutation cohort. Furthermore, we reviewed 320 patients diagnosed with breast cancer and detected as BRCA mutation carriers who underwent contralateral RRM; high proportion of them were BRCA1 mutation carriers.Interestingly, we found a low incidence of only seven patients (2.2%) with occult malignancy on contralateral RRM side, which is different from that reported in other nations. Conclusion The incidence of occult malignancy in the contralateral breast of breast cancer patients with breast cancer with BRCA mutation is significantly low, and may be influenced by several factors. Increased utilization of screening and advancements in diagnostic technologies in South Korea have reduced the chance of occult malignancy in RRM, and a variety of pathologic examination methods may affect the rate of incidence.

Background: Prevention of contrast-induced nephropathy (CIN) is crucial in acute myocardial infarction (AMI) patients undergoing coronary interventions. Previous studies suggest that high-dose statins may aid in CIN prevention, yet comparative studies among different statin types using cystatin C (cysC) as a biomarker for CIN are absent. This study evaluated the effectiveness of high-dose rosuvastatin versus atorvastatin in preventing cysC-based CIN (cysC-CIN) in AMI patients. Methods: This multicenter registry included 431 patients (rosuvastatin 20 mg: n = 231, atorvastatin 40 mg: n = 200). The primary endpoint was cysC-CIN incidence within 48 hours post contrast; the secondary endpoints were creatinine-based CIN (cr-CIN) incidence within 72 hours post contrast and post 30 days adverse events. Results: The incidences of cysC-CIN (12.1% vs. 7.5%, P = 0.103) and cr-CIN (6.2% vs. 3.5%, P = 0.103) were higher in the atorvastatin group without significant statistical differences.Multivariable regression analysis, which was adjusted for CIN risk factors and the variables with univariate association, showed no increased odds ratio (OR) (OR, 2.185; 95% confidence interval [CI], 0.899, 5.315; P = 0.085) for cysC-CIN in the atorvastatin group compared to the rosuvastatin group. However, statin-naïve atorvastatin subgroup had significantly increased odds of cysC-CIN compared to the rosuvastatin group (OR, 2.977; 95% CI, 1.057, 8.378; P = 0.039). At post 30 days renal, cardiovascular, and mortality event rates were both low and similar between the two groups. Conclusion No significant difference in cysC-CIN incidence was found between the highdose rosuvastatin and atorvastatin groups in AMI patients and cysC was more sensitive to the early detection of CIN than creatinine.

Background: Because of the low prevalence of inherited retinal diseases, reports on the distribution of retinitis pigmentosa (RP)-related genes in Korean patients are scarce. The aim of this study was to determine the mutation spectrum and allele frequency and observe the final diagnoses in a Korean cohort clinically diagnosed with RP. Methods: We used whole-exome sequencing (WES) to analyze a Korean cohort of 100 unrelated patients clinically diagnosed with RP. The possible pathogenicity of each variant was assessed based on the guidelines of the American College of Medical Genetics and Genomics and Association for Molecular Pathology, in-silico prediction tools, known clinical phenotypes, and inheritance patterns. Results: Definite causative genes were detected in 60/100 patients (60.0%). Of these 60 cases, USH2A was the most common causative gene (14/60, 23.3%), followed by EYS (13/60, 21.7%) and RP1 (6/60, 10.0%). The clinical diagnosis was redefined in 9 of the 60 probands (15.0%) with causative genes after WES. Five of the 60 patients (8.3%) carried a causative variant in CHM, and the clinical diagnosis was redefined as choroideremia. Leber congenital amaurosis was diagnosed in 2/60 probands (3.3%), and RDH12 and RPGRIP1 were the causative genes in each patient. One patient (1/60, 1.7%) was diagnosed with Bietti’s crystalline dystrophy, with CYP4V2 identified as the causative gene. In another patient (1/60, 1.7%), ABCA4 variants were detected with clinical findings suggestive of cone-rod dystrophy. Conclusion This study reports the mutational spectrum of a cohort of Korean patients with a clinical diagnosis of RP who were referred for genetic testing. This study adds valuable data regarding the frequency of genes as well as their relation to the age of symptom onset and relation to other inherited retinal degenerations.

Background: Researchers have proposed that there is a potential link between folliclestimulating hormone (FSH) and cognitive function, yet the evidence remains inconclusive.The current study aims to identify the association between serum FSH levels and cognitive performance, and to examine whether this association varies by cognitive diagnosis, serum estradiol (E2) levels, or cognitive domain. Methods: This multicenter cross-sectional study used a clinical database comprising female visitors to memory clinics at three referral hospitals in Korea. Venous blood samples were collected to determine serum FSH and E2 concentrations via immunoradiometric assay.Cognitive performance was evaluated using either the Korean version of the Consortium to Establish a Registry for Alzheimer’s Disease or the Seoul Neuropsychological Screening Battery, while cognitive diagnoses were made via clinical diagnostic interviews. Results: Among the 159 participants (normal cognition [NC], n = 70; mild cognitive impairment [MCI], n = 52; Alzheimer’s disease [AD] dementia, n = 37), there were no significant differences in serum FSH levels associated with cognitive diagnosis. In women with NC, serum FSH levels were found to be positively correlated with cognitive performance in global cognition, nonverbal memory, and executive function, even after adjusting for serum E2 level and its interaction with serum FSH level. However, no significant correlations were observed in women with MCI and AD dementia. Conclusion The association between circulating FSH and cognition may be independent from circulating E2, but it may depend on disease progression or cognitive domains. This suggests a potential role of gonadotropin in cognitive decline in elderly women.

Stoma formation for fecal diversion is a common procedure in patients with various complicated conditions after colorectal surgery, such as anastomotic leakage. The singleincision laparoscopic approach for stoma creation offers several advantages, including a reduction in surgical wounds and related complications as well as optimal visualization of the surgical field. This video demonstrates a single-port–assisted diverting ileostomy in a 61-yearold man with anastomotic leakage following low anterior resection for advanced rectal cancer.

Objectives: Adhering to management guidelines, including routine follow-up and education, is crucial for the effective management of chronic diseases such as diabetes. Uncontrolled diabetes is linked to poor sleep quality. We used nationally representative data from community-dwelling Koreans to investigate potential associations between non-adherence to diabetes management and poor sleep quality. Methods: Of the 228 340 participants in the 2018 Korea Community Health Survey, we analyzed data from 68 246 participants aged 65 years and older. Based on their diabetes status and adherence to diabetes-related tests (glycated hemoglobin, fundus examination, and urine microalbuminuria) and management education, study participants were divided into 3 groups: no diabetes, adherence, and non-adherence. Outcome variables included poor overall sleep quality and sleep disturbances, as measured by the Pittsburgh Sleep Quality Index. Results: The study included 934 participants in the adherence group (2.0%) and 13 420 in the non-adherence group (20.2%). Participants displaying non-adherence were significantly more likely to report poor overall sleep quality (adjusted odds ratio [aOR], 1.09; 95% confidence interval [CI], 1.04 to 1.13) and to experience sleep fragmentation, nocturia, pain during sleep, and difficulty falling asleep compared to participants without diabetes. Even in the earlier stage of diabetes, non-adherent participants were more likely to report poor sleep quality (aOR, 1.06; 95% CI, 1.00 to 1.18). Conclusions Patients with diabetes who do not follow management guidelines are more likely to experience poor sleep quality than those without diabetes. Emphasizing diabetes management and increasing awareness of management strategies may improve sleep quality among patients with this disease.

Background and Objectives: Pediatric chronic rhinosinusitis (CRS) significantly affects children’s quality of life and learning abilities. This study aimed to evaluate the postoperative outcomes in pediatric patients who underwent functional endoscopic sinus surgery (FESS) for CRS. Methods: A retrospective review was conducted on pediatric patients who underwent FESS for CRS at 11 university hospitals. The inclusion criteria were patients under 20 years old with bilateral disease who were operated on between January 2005 and December 2021. The data collected included demographics, clinical history, blood tests, preoperative computed tomography, and preoperative and postoperative symptom control. The Kruskal-Wallis and Fisher exact tests were used to compare the quantitative and qualitative data, respectively. Results: In total, 213 patients were enrolled. The mean age was 13.4±3.0 years, and 145 (68.1%) were male. One hundred sixty-four patients (77.0%) had nasal polyps and 33 patients (15.5%) underwent revision FESS. The preoperative symptoms, in order of prevalence, included nasal obstruction (87.8%), rhinorrhea (71.8%), a sense of postnasal drip (58.2%), hyposmia (44.6%), cough (24.4%), and facial fullness (18.3%). These symptoms were significantly alleviated for up to 3 years after surgery (p<0.001). At the time of the last follow-up, 121 patients (56.8%) were controlled, 80 (37.6%) were partly controlled, and 12 (5.6%) were uncontrolled. Patients in the uncontrolled group had higher Lund-Mackay scores, longer follow-up durations, and more instances of revision surgery compared to those in the controlled and partly controlled groups. When age was categorized into three groups, those aged 16 years or older tended to have lower Lund-Mackay scores and better control. Conclusion FESS significantly improves both the postoperative symptoms and the long-term quality of life in pediatric CRS patients. Better symptom control is associated with older age and a lower disease burden.

Purpose: We aimed to derive insights by analyzing the results of a patient safety awareness survey conducted by the Regional Patient Safety Center of the Korean Medical Association. Methods: Survey questions were developed in three domains: sociodemographic characteristics, patient safety awareness, and patient safety education needs. An online anonymous survey targeting Korean physicians was conducted annually from 2021 to 2023. Chi-square tests were used to verify differences in responses by year and sociodemographic characteristics. Results: A total of 774 physicians participated in the survey over the three-year period. Approximately half of the participants were still assessed to have insufficient knowledge about patient safety, and no clear year-over-year improvement was observed. Additionally, while patient safety incidents appeared common, the proportion of respondents who reported incidents remained around 20%. However, participants showed high levels of agreement or engagement in patient participation activities related to patient safety (over 90%), with 60% having previously received patient safety-related education, and nearly 90% expressing willingness to participate in future education. The findings also highlighted a particular urgency in improving patient safety awareness among clinic-based physicians. Conclusion Promoting awareness of patient safety incident reporting methods and encouraging clinic-based physicians to report incidents should be prioritized. The study’s findings will provide a foundation for more effectively fostering physician engagement in patient safety improvement activities.