Background/Aims: Cholecystectomy for gallbladder (GB) polyps is performed primarily based on preoperative images. This study examined the accuracy of surgical indications commonly used in clinical practice for detecting neoplastic polyps and investigated further clues for predicting neoplastic polyps. Methods: This retrospective study included 385 patients who underwent a cholecystectomy for GB polyps. The predictive performances of seven surgical indications were compared by fitting the receiver operating characteristic curves. Logistic regression analysis was used to identify the candidate variables associated with predicting neoplastic polyps. Results: Neoplastic polyps were identified in 18.9% (n=62) of the 385 patients assessed. The neoplastic group contained more females than males, larger polyps, more frequent solitary lesions, and lower platelet counts than the non-neoplastic group. Current surgical indications revealed an unsatisfactory prediction for neoplastic polyps. The optimal cutoff polyp size for neoplastic polyps by ultrasound (US) was larger than by computed tomography (CT) (12 mm vs. 10 mm). The proportion of pathologic neoplastic polyps was higher when both US and CT images were used than that predicted using a single test. Logistic regression analysis revealed larger polyps, increasing age, female sex, and lower platelet count to be associated with neoplastic polyps. Conclusions The current indications for cholecystectomy in GB polyps have a low predictive value for neoplastic lesions that can lead to overtreatment. Combining the polyp size from US and CT images may reduce unnecessary surgery. In addition, knowledge of the patient's age, sex, and platelet count could help make more selective surgical decisions for neoplastic polyps.

Purpose: Rare diseases occur in <50 per 100000 people and require lifelong management. However, essential epidemiological data on such diseases are lacking, and a consecutive monitoring system across time and regions remains to be established. Standardized digital phenotypes are required to leverage an international data network for research on rare endocrine diseases. We developed digital phenotypes for rare endocrine diseases using the observational medical outcome partnership common data model. Materials and Methods: Digital phenotypes of three rare endocrine diseases (medullary thyroid cancer, hypoparathyroidism, pheochromocytoma/paraganglioma) were validated across three databases that use different vocabularies: Severance Hospital’s electronic health record from South Korea; IQVIA’s United Kingdom (UK) database for general practitioners; and IQVIA’s United States (US) hospital database for general hospitals. We estimated the performance of different digital phenotyping methods based on International Classification of Diseases (ICD)-10 in the UK and the US or systematized nomenclature of medicine clinical terms (SNOMED CT) in Korea. Results: The positive predictive value of digital phenotyping was higher using SNOMED CT-based phenotyping than ICD-10-based phenotyping for all three diseases in Korea (e.g., pheochromocytoma/paraganglioma: ICD-10, 58%–62%; SNOMED CT, 89%). Estimated incidence rates by digital phenotyping were as follows: medullary thyroid cancer, 0.34–2.07 (Korea), 0.13–0.30 (US); hypoparathyroidism, 0.40–1.20 (Korea), 0.59–1.01 (US), 0.00–1.78 (UK); and pheochromocytoma/paraganglioma, 0.95–1.67 (Korea), 0.35–0.77 (US), 0.00–0.49 (UK). Conclusion Our findings demonstrate the feasibility of developing digital phenotyping of rare endocrine diseases and highlight the importance of implementing SNOMED CT in routine clinical practice to provide granularity for research.

Background/Aims: Cholecystectomy for gallbladder (GB) polyps is performed primarily based on preoperative images. This study examined the accuracy of surgical indications commonly used in clinical practice for detecting neoplastic polyps and investigated further clues for predicting neoplastic polyps. Methods: This retrospective study included 385 patients who underwent a cholecystectomy for GB polyps. The predictive performances of seven surgical indications were compared by fitting the receiver operating characteristic curves. Logistic regression analysis was used to identify the candidate variables associated with predicting neoplastic polyps. Results: Neoplastic polyps were identified in 18.9% (n=62) of the 385 patients assessed. The neoplastic group contained more females than males, larger polyps, more frequent solitary lesions, and lower platelet counts than the non-neoplastic group. Current surgical indications revealed an unsatisfactory prediction for neoplastic polyps. The optimal cutoff polyp size for neoplastic polyps by ultrasound (US) was larger than by computed tomography (CT) (12 mm vs. 10 mm). The proportion of pathologic neoplastic polyps was higher when both US and CT images were used than that predicted using a single test. Logistic regression analysis revealed larger polyps, increasing age, female sex, and lower platelet count to be associated with neoplastic polyps. Conclusions The current indications for cholecystectomy in GB polyps have a low predictive value for neoplastic lesions that can lead to overtreatment. Combining the polyp size from US and CT images may reduce unnecessary surgery. In addition, knowledge of the patient's age, sex, and platelet count could help make more selective surgical decisions for neoplastic polyps.

Purpose: Rare diseases occur in <50 per 100000 people and require lifelong management. However, essential epidemiological data on such diseases are lacking, and a consecutive monitoring system across time and regions remains to be established. Standardized digital phenotypes are required to leverage an international data network for research on rare endocrine diseases. We developed digital phenotypes for rare endocrine diseases using the observational medical outcome partnership common data model. Materials and Methods: Digital phenotypes of three rare endocrine diseases (medullary thyroid cancer, hypoparathyroidism, pheochromocytoma/paraganglioma) were validated across three databases that use different vocabularies: Severance Hospital’s electronic health record from South Korea; IQVIA’s United Kingdom (UK) database for general practitioners; and IQVIA’s United States (US) hospital database for general hospitals. We estimated the performance of different digital phenotyping methods based on International Classification of Diseases (ICD)-10 in the UK and the US or systematized nomenclature of medicine clinical terms (SNOMED CT) in Korea. Results: The positive predictive value of digital phenotyping was higher using SNOMED CT-based phenotyping than ICD-10-based phenotyping for all three diseases in Korea (e.g., pheochromocytoma/paraganglioma: ICD-10, 58%–62%; SNOMED CT, 89%). Estimated incidence rates by digital phenotyping were as follows: medullary thyroid cancer, 0.34–2.07 (Korea), 0.13–0.30 (US); hypoparathyroidism, 0.40–1.20 (Korea), 0.59–1.01 (US), 0.00–1.78 (UK); and pheochromocytoma/paraganglioma, 0.95–1.67 (Korea), 0.35–0.77 (US), 0.00–0.49 (UK). Conclusion Our findings demonstrate the feasibility of developing digital phenotyping of rare endocrine diseases and highlight the importance of implementing SNOMED CT in routine clinical practice to provide granularity for research.

Background/Aims: Cholecystectomy for gallbladder (GB) polyps is performed primarily based on preoperative images. This study examined the accuracy of surgical indications commonly used in clinical practice for detecting neoplastic polyps and investigated further clues for predicting neoplastic polyps. Methods: This retrospective study included 385 patients who underwent a cholecystectomy for GB polyps. The predictive performances of seven surgical indications were compared by fitting the receiver operating characteristic curves. Logistic regression analysis was used to identify the candidate variables associated with predicting neoplastic polyps. Results: Neoplastic polyps were identified in 18.9% (n=62) of the 385 patients assessed. The neoplastic group contained more females than males, larger polyps, more frequent solitary lesions, and lower platelet counts than the non-neoplastic group. Current surgical indications revealed an unsatisfactory prediction for neoplastic polyps. The optimal cutoff polyp size for neoplastic polyps by ultrasound (US) was larger than by computed tomography (CT) (12 mm vs. 10 mm). The proportion of pathologic neoplastic polyps was higher when both US and CT images were used than that predicted using a single test. Logistic regression analysis revealed larger polyps, increasing age, female sex, and lower platelet count to be associated with neoplastic polyps. Conclusions The current indications for cholecystectomy in GB polyps have a low predictive value for neoplastic lesions that can lead to overtreatment. Combining the polyp size from US and CT images may reduce unnecessary surgery. In addition, knowledge of the patient's age, sex, and platelet count could help make more selective surgical decisions for neoplastic polyps.

Purpose: Rare diseases occur in <50 per 100000 people and require lifelong management. However, essential epidemiological data on such diseases are lacking, and a consecutive monitoring system across time and regions remains to be established. Standardized digital phenotypes are required to leverage an international data network for research on rare endocrine diseases. We developed digital phenotypes for rare endocrine diseases using the observational medical outcome partnership common data model. Materials and Methods: Digital phenotypes of three rare endocrine diseases (medullary thyroid cancer, hypoparathyroidism, pheochromocytoma/paraganglioma) were validated across three databases that use different vocabularies: Severance Hospital’s electronic health record from South Korea; IQVIA’s United Kingdom (UK) database for general practitioners; and IQVIA’s United States (US) hospital database for general hospitals. We estimated the performance of different digital phenotyping methods based on International Classification of Diseases (ICD)-10 in the UK and the US or systematized nomenclature of medicine clinical terms (SNOMED CT) in Korea. Results: The positive predictive value of digital phenotyping was higher using SNOMED CT-based phenotyping than ICD-10-based phenotyping for all three diseases in Korea (e.g., pheochromocytoma/paraganglioma: ICD-10, 58%–62%; SNOMED CT, 89%). Estimated incidence rates by digital phenotyping were as follows: medullary thyroid cancer, 0.34–2.07 (Korea), 0.13–0.30 (US); hypoparathyroidism, 0.40–1.20 (Korea), 0.59–1.01 (US), 0.00–1.78 (UK); and pheochromocytoma/paraganglioma, 0.95–1.67 (Korea), 0.35–0.77 (US), 0.00–0.49 (UK). Conclusion Our findings demonstrate the feasibility of developing digital phenotyping of rare endocrine diseases and highlight the importance of implementing SNOMED CT in routine clinical practice to provide granularity for research.

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.

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.