Background: The Xpert MTB/RIF Ultra (Xpert Ultra) was introduced to enhance the sensitivity of tuberculosis detection, particularly in smear-negative cases, compared with its predecessor, Xpert MTB/RIF (Xpert). However, its performance in high-resource, intermediateburden settings remains unassessed. We prospectively compared the diagnostic accuracy of Xpert Ultra and Xpert for detecting Mycobacterium tuberculosis (MTB) and rifampin resistance in Korea. Methods: In total, 309 respiratory specimens were analyzed using both assays. We used two reference standards: mycobacterial culture and a composite reference standard based on clinical diagnosis and treatment decisions. Diagnostic performance, including sensitivity, specificity, and agreement between the two assays, was assessed. Spiking experiments using 13 MTB isolates with known rpoB mutations were performed to evaluate rifampin resistance detection. Results: Xpert Ultra showed increased, albeit not significantly, sensitivity (73.7% vs. 65.8% with culture; 63.8% vs. 53.2% with the composite reference standard) over Xpert. Its specificity was comparable to that of Xpert; however, a few false-positive results were observed among trace- and very low-positives. Among six culture-negative but Xpert Ultra-positive cases, two were clinically diagnosed as tuberculosis. Of the 13 rpoB mutant strains, Xpert correctly detected all mutations in the rifampin resistance-determining region, whereas Xpert Ultra yielded indeterminate results for Q432P and Q429H/L430P/H445Q. Conclusions Xpert Ultra tends to have increased sensitivity; however, it shows potential diagnostic ambiguity associated with trace- or very low-positive results. These findings highlight the importance of clinical correlation, particularly in culture-negative cases. Indeterminate results in certain rpoB mutations require cautious interpretation.

Background: Gout is a type of inflammatory arthritis caused by monosodium urate crystal deposits, and the prevalence of this condition has been increasing. This study aimed to determine the combined effects of genetic risk factors and lifestyle habits on gout, using data from a Korean cohort study. Identifying high-risk individuals in advance can help prevent gout and its associated disorders. Methods: We analyzed data from the Korean Genome and Epidemiology Study-Urban Health Examinees cohort (KoGES-HEXA). Genetic information of the participants was collected at baseline, and gout cases were identified based on patient statements. The polygenic risk score (PRS) was calculated using nine independent genome-wide association study datasets, and lifestyle factors and metabolic syndrome status were measured for each participant using the KoGES. Logistic regression models were used to estimate the odds ratios (ORs) for gout in relation to genetic risk, lifestyle habits, and metabolic health status, after adjusting for age and sex. Results: Among 44,605 participants, 617 were diagnosed with gout. Gout was associated with older age, higher body mass index, and higher prevalence of hypertension, diabetes, and hypertriglyceridemia. High PRS, unfavorable lifestyle habits, and poor metabolic profiles were significantly associated with an increased risk of gout. Compared with that in the low-genetic-risk and healthy lifestyle group or ideal metabolic profile group, the risk of gout was increased in the high-genetic-risk plus unfavorable lifestyle (OR, 3.64; 95% confidence interval [CI], 2.32–6.03) or poor metabolic profile (OR, 7.78; 95% CI, 4.61–13.40) group.Conversely, adherence to favorable lifestyle habits significantly reduced gout risk, especially in high-genetic-risk groups. Conclusion Genetic predisposition and unhealthy lifestyle habits significantly increase the risk of gout. Promoting healthy lifestyle habits is crucial to prevent the development of gout, particularly in individuals with high genetic susceptibility.

Background: Gout is a type of inflammatory arthritis caused by monosodium urate crystal deposits, and the prevalence of this condition has been increasing. This study aimed to determine the combined effects of genetic risk factors and lifestyle habits on gout, using data from a Korean cohort study. Identifying high-risk individuals in advance can help prevent gout and its associated disorders. Methods: We analyzed data from the Korean Genome and Epidemiology Study-Urban Health Examinees cohort (KoGES-HEXA). Genetic information of the participants was collected at baseline, and gout cases were identified based on patient statements. The polygenic risk score (PRS) was calculated using nine independent genome-wide association study datasets, and lifestyle factors and metabolic syndrome status were measured for each participant using the KoGES. Logistic regression models were used to estimate the odds ratios (ORs) for gout in relation to genetic risk, lifestyle habits, and metabolic health status, after adjusting for age and sex. Results: Among 44,605 participants, 617 were diagnosed with gout. Gout was associated with older age, higher body mass index, and higher prevalence of hypertension, diabetes, and hypertriglyceridemia. High PRS, unfavorable lifestyle habits, and poor metabolic profiles were significantly associated with an increased risk of gout. Compared with that in the low-genetic-risk and healthy lifestyle group or ideal metabolic profile group, the risk of gout was increased in the high-genetic-risk plus unfavorable lifestyle (OR, 3.64; 95% confidence interval [CI], 2.32–6.03) or poor metabolic profile (OR, 7.78; 95% CI, 4.61–13.40) group.Conversely, adherence to favorable lifestyle habits significantly reduced gout risk, especially in high-genetic-risk groups. Conclusion Genetic predisposition and unhealthy lifestyle habits significantly increase the risk of gout. Promoting healthy lifestyle habits is crucial to prevent the development of gout, particularly in individuals with high genetic susceptibility.

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: and Purpose Treatments for neuromyelitis optica spectrum disorder (NMOSD) such as eculizumab, ravulizumab, satralizumab, and inebilizumab have significantly advanced relapse prevention, but they remain expensive. Rituximab is an off-label yet popular alternative that offers a cost-effective solution, but its real-world efficacy needs better quantification for guiding the application of newer approved NMOSD treatments (ANTs). This study aimed to determine real-world rituximab failure rates to anticipate the demand for ANTs and aid in resource allocation. Methods: We conducted a nationwide retrospective study involving 605 aquaporin-4-antibody-positive NMOSD patients from 22 centers in South Korea that assessed the efficacy and safety of rituximab over a median follow-up of 47 months. Results: The 605 patients treated with rituximab included 525 (87%) who received continuous therapy throughout the follow-up period (median=47 months, interquartile range=15–87 months). During this period, 117 patients (19%) experienced at least 1 relapse. Notably, 68 of these patients (11% of the total cohort) experienced multiple relapses or at least 1 severe relapse.Additionally, 2% of the patients discontinued rituximab due to adverse events, which included severe infusion reactions, neutropenia, and infections. Conclusions This study has confirmed the efficacy of rituximab in treating NMOSD, as evidenced by an 87% continuation rate among patients over a 4-year follow-up period. Nevertheless, the occurrence of at least one relapse in 19% of the cohort, including 11% who experienced multiple or severe relapses, and a 2% discontinuation rate due to adverse events highlight the urgent need for alternative therapeutic options.

The impact of Streptococcus pneumoniae coinfection on coronavirus disease 2019 (COVID-19) prognosis remains uncertain. We conducted a retrospective analysis of patients hospitalized with COVID-19 who underwent a pneumococcal urinary antigen (PUA) test to assess its clinical utility. Results showed that PUA-positive patients required more oxygen support, high-flow nasal cannula, and dexamethasone compared to PUA-negative patients.Furthermore, the significantly higher incidence of a National Early Warning Score ≥5 in the PUA-positive group (P<0.001) suggests that a positive PUA test is associated with a severe disease course. However, no significant difference in mortality was observed between the two groups, and antibiotics were used in almost all patients (96.2%). While the PUA test may help guide antibiotic use in COVID-19 patients, its interpretation should be approached with caution.

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: and Purpose Treatments for neuromyelitis optica spectrum disorder (NMOSD) such as eculizumab, ravulizumab, satralizumab, and inebilizumab have significantly advanced relapse prevention, but they remain expensive. Rituximab is an off-label yet popular alternative that offers a cost-effective solution, but its real-world efficacy needs better quantification for guiding the application of newer approved NMOSD treatments (ANTs). This study aimed to determine real-world rituximab failure rates to anticipate the demand for ANTs and aid in resource allocation. Methods: We conducted a nationwide retrospective study involving 605 aquaporin-4-antibody-positive NMOSD patients from 22 centers in South Korea that assessed the efficacy and safety of rituximab over a median follow-up of 47 months. Results: The 605 patients treated with rituximab included 525 (87%) who received continuous therapy throughout the follow-up period (median=47 months, interquartile range=15–87 months). During this period, 117 patients (19%) experienced at least 1 relapse. Notably, 68 of these patients (11% of the total cohort) experienced multiple relapses or at least 1 severe relapse.Additionally, 2% of the patients discontinued rituximab due to adverse events, which included severe infusion reactions, neutropenia, and infections. Conclusions This study has confirmed the efficacy of rituximab in treating NMOSD, as evidenced by an 87% continuation rate among patients over a 4-year follow-up period. Nevertheless, the occurrence of at least one relapse in 19% of the cohort, including 11% who experienced multiple or severe relapses, and a 2% discontinuation rate due to adverse events highlight the urgent need for alternative therapeutic options.

With the increasing emphasis on diversity, equity, and inclusion (DEI) in organizations and institutions, academic societies in gastroenterology and hepatology are beginning to take actionable steps toward achieving DEI. The successful implementation of DEI initiatives leads to excellence in the field, improved patient outcomes, particularly in areas where health disparities are prevalent, and advances in the gastrointestinal discipline. Such implementation also results in a workforce that better reflects the growing diversity of the population. This review defines DEI and introduces the DEI policies and strategies adopted by the academic societies of gastroenterology in other countries. This paper proposes strategies to integrate DEI better into the Korean Society of Gastroenterology, emphasizing the importance of embedding DEI into the culture and strategic framework. The key strategies include establishing a DEI committee, setting clear targets, and conducting formal assessments to measure DEI progress. This study focused on enhancing workforce diversity, particularly among women and young doctors, and advocates for the need to support their academic development through male allyship and the promotion of equitable and inclusive academic cultures.

Background/Aims: The kidneys and retina are highly vascularized organs that frequently exhibit shared pathologies, with nephropathy often associated with retinopathy. Previous studies have successfully predicted estimated glomerular filtration rates (eGFRs) using fundus photographs. We evaluated the performance of the Modification of Diet in Renal Disease (MDRD) and Chronic Kidney Disease Epidemiology Collaboration (CKD-EPI) formulas in eGFR prediction. Methods: We enrolled patients with fundus photographs and corresponding creatinine measurements taken on the same date. One photograph per eye was randomly selected, resulting in a final dataset of 45,108 patients (88,260 photographs). Data including sex, age, and blood creatinine levels were collected for eGFR calculation using the MDRD and CKD-EPI formulas. EfficientNet B3 models were used to predict each parameter. Results: Deep neural network models accurately predicted age and sex using fundus photographs. Sex was identified as a confounding variable in creatinine prediction. The MDRD formula was more susceptible to this confounding effect than the CKD-EPI formula. Notably, the CKD-EPI formula demonstrated superior performance compared to the MDRD formula (area under the curve 0.864 vs. 0.802). Conclusions Fundus photographs are a valuable tool for screening renal function using deep neural network models, demonstrating the role of noninvasive imaging in medical diagnostics. However, these models are susceptible to the influence of sex, a potential confounding factor. The CKD-EPI formula, less susceptible to sex bias, is recommended to obtain more reliable results.