Purpose: Considering the high disease burden and unique features of Asian patients with breast cancer (BC), it is essential to have a comprehensive view of genetic characteristics in this population. An institutional targeted sequencing platform was developed through the Korea Research-Driven Hospitals project and was incorporated into clinical practice. This study explores the use of targeted next-generation sequencing (NGS) and its outcomes in patients with advanced/metastatic BC in the real world. Materials and Methods: We reviewed the results of NGS tests administered to BC patients using a customized sequencing platform—FiRST Cancer Panel (FCP)—over 7 years. We systematically described clinical translation of FCP for precise diagnostics, personalized therapeutic strategies, and unraveling disease pathogenesis. Results: NGS tests were conducted on 548 samples from 522 patients with BC. Ninety-seven point six percentage of tested samples harbored at least one pathogenic alteration. The common alterations included mutations in TP53 (56.2%), PIK3CA (31.2%), GATA3 (13.8%), BRCA2 (10.2%), and amplifications of CCND1 (10.8%), FGF19 (10.0%), and ERBB2 (9.5%). NGS analysis of ERBB2 amplification correlated well with human epidermal growth factor receptor 2 immunohistochemistry and in situ hybridization. RNA panel analyses found potentially actionable and prognostic fusion genes. FCP effectively screened for potentially germline pathogenic/likely pathogenic mutation. Ten point three percent of BC patients received matched therapy guided by NGS, resulting in a significant overall survival advantage (p=0.022), especially for metastatic BCs. Conclusion Clinical NGS provided multifaceted benefits, deepening our understanding of the disease, improving diagnostic precision, and paving the way for targeted therapies. The concrete advantages of FCP highlight the importance of multi-gene testing for BC, especially for metastatic conditions.

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.

Objective: The Daegu region experienced the first wave of the pandemic at the beginning of the coronavirus disease 2019 (COVID-19) outbreak in Korea. Other non-COVID-19-related treatments during a community outbreak, such as cardiovascular diseases, were expected to impact emergency departments. In acute myocardial infarctions, time is an important factor affecting the patient outcome. This study examined how community COVID-19 outbreak affected STsegment elevated myocardial infarction (STEMI) care in emergency departments. Methods: A retrospective analysis was performed on patients visiting five emergency departments in the Daegu area who were diagnosed with STEMI from February 18 to April 17 each year from 2018 to 2020. The demographic characteristics, prehospital variables, in-hospital time variables, and treatment results were collected. The cases were divided into the pre-COVID period and the COVID period for comparison. Results: The study included 254 patients (194 pre-COVID, 60 during COVID). The symptom-to-door time did not differ. Although the door-to-first doctor time was shortened (4 min vs. 2 min, P=0.01), the rate of coronary angiogram along with the door-to-angiogram time and the door-to-balloon time did not change. The length of stay in the emergency department was delayed during COVID-19 (median, 136 min vs. 404 min; P<0.01). The in-hospital length of stay and mortality were similar in both groups. Conclusion The time to treat STEMI was not delayed significantly during the first wave of the COVID-19 outbreak in the Daegu area compared with the pre-pandemic period. Mortality did not change. The length of stay was elongated significantly in the emergency department but not in the hospital.

Objective: : Dural substitutes have been widely used in decompressive craniectomy to prevent adhesion, and have significantly reduced blood loss and operation time. However, there are only limited studies providing information regarding detailed techniques and the specific operation time that is associated with good prognoses. In this study, we evaluate the effectiveness of using a dural substitute as an anti-adhesive material during cranioplasty, focusing on technical details and operation time from incision to bone closure. Methods: : A retrospectively reviewed total of 66 patients were included who underwent a craniectomy and subsequent cranioplasty caused by either a severe traumatic brain injury (n=35) or malignant infarction (n=31). The patients were divided into two groups depending on whether Neuro-Patch was used or not (31 in the Neuro-Patch group, 35 in the non-Neuro-Patch group). Propensity score matching was used to minimize the differences. Associated morbidities as well as operation time, and blood loss were analyzed and compared between the two groups. Results: : To prevent adhesion, Neuro-Patch was placed as an onlay, enough to cover the surrounding skull at least 1 cm beyond the bone edges. A small piece was also placed over the temporalis muscle during the craniectomy. A step-by-step dissection was performed to minimize retraction-related injury during the subsequent cranioplasty. The mean estimated blood loss was significantly lower in the Neuro-Patch group (54.6±34.9 vs. 149.0±70.8 mL, p<0.001) and the mean time from incision to bone closure in the Neuro-Patch group was 40.8±14.3 minutes, which was significantly lower than in the non-Neuro-Patch group (91.5±38.2 minutes) as well. For each analysis of complications, the differences were not significant, however, the overall complication rate was significantly lower in the Neuro-Patch group (9.7%) than in the non-Neuro-Patch group (42.9%). Conclusion : Neuro-Patch can be used safely and effectively as an anti-adhesive substitute during cranioplasty. To improve clinical outcomes as well as intraoperative parameters including the time from incision to bone closure, planned placement of Neuro-Patch during craniectomy and the step-by-step dissection during cranioplasty is important.

While advances in cancer treatment have led to improved survival rates, cancer survivors are at a significant risk of developing atherosclerotic cardiovascular disease (ASCVD).This review examines the risk, diagnosis, and prevention of ASCVD in this population.Cancer survivors, especially those diagnosed with certain types, face a significantly higher risk of developing ASCVD than the general population. We introduce the “triad model” to explain this increased risk of ASCVD among cancer patients. This model includes three interconnected components: common catalysts, cancer influence, and treatment impact.The factors contributing to this model are the shared risk factors between cancer and ASCVD, such as smoking, obesity, and systemic inflammation; the direct effects of cancer on cardiovascular health through chronic systemic inflammation and endothelial damage;and the significant effects of anticancer treatments, including chemotherapy and radiation, which can worsen cardiovascular complications and hasten the progression of ASCVD.Furthermore, cancer survivors are at a higher risk of developing and dying from ASCVD, highlighting the necessity for tailored guidelines and strategies for ASCVD prevention and management in this population. The review explores the utility of diagnostic tools, such as coronary artery calcium scoring, in predicting and managing ASCVD risk. It also emphasizes the importance of prevention strategies that include regular cardiovascular monitoring and lifestyle modifications. Finally, the relationship between cancer survival and cardiovascular health highlights the importance of integrated and comprehensive care approaches.Continued research, the development of prediction models, and specific preventative strategies are essential to improve cancer survivors’ overall health outcomes.