Background: As nationwide government-led whole-genome sequencing (WGS) projects progress, optimizing the clinical integration of large-scale WGS results is crucial. We explored how the initial analysis from Korea’s First WGS Pilot Study for Rare Diseases was applied in clinical practice, and then we reanalyzed the data comprehensively at Samsung Medical Center (SMC) Seoul, Korea. Methods: A prospective cohort study designed to collect WGS data under a Korean national initiative was conducted from August 2020 to December 2021. We focused on patients with rare diseases recruited from 16 university hospitals. The participants included 5,000 individuals (2,200 probands and 2,800 family members). The initial WGS data and diagnostic reference reports (from 682 probands and 484 family members), generated based on the First Korean WGS Pilot Study for Rare Diseases, were subsequently reanalyzed by SMC. Results: The initial analysis of the First Korean WGS Pilot Study data revealed a diagnostic rate of 17%. Upon receiving these results, the SMC conducted two rounds of reanalysis, increasing the diagnostic rate from 15% in the first analysis, to 18% in the second, and finally to 24% in the third (P = 1.6 × 10 −5 ). Key factors in improving the genetic diagnosis included increased detection of novel (likely) pathogenic variants (P = 1.0 × 10 −4 ), improved diagnostic rates with larger family recruitment (P = 0.004), and refined clinical information for more precise genotype–phenotype correlation analysis (40%). Conclusions Although national WGS projects lay a foundation for rare disease diagnosis, hospital-level reanalysis and multidisciplinary collaborations are crucial for optimizing diagnostic outcomes.

Purpose: Persistent hypercalcemia after parathyroidectomy (PTx) remains a significant concern in patients with tertiary hyperparathyroidism (THPT) following kidney transplant (KT). Complete resection of hyperfunctioning glands is challenging due to ectopic or intrathyroidal glands. This study evaluated whether intraoperative parathyroid hormone (ioPTH) monitoring during PTx in KT patients with THPT reduces the surgical failure rate. Methods: We retrospectively analyzed 111 patients with THPT who underwent PTx at a single tertiary center. Patients were divided into 2 groups: those without ioPTH monitoring (n=98) and those with ioPTH monitoring (n=13). Surgical procedures included less than subtotal, subtotal, or total PTx with autotransplantation. Surgical failure was defined as persistent hypercalcemia (serum calcium ≥10.3 mg/dL and intact parathyroid hormone [PTH] >65 pg/mL) on postoperative day 1 (POD1) or at ≥6 months postoperatively. Results: The ioPTH group demonstrated a significantly lower mean PTH level on POD1 (21±15.3 pg/mL vs. 39±39 pg/mL; P=0.006). Although not statistically significant, the ioPTH group showed a higher biochemical cure rate at 3 months (53.8% vs. 30.6%) and no cases of persistent hyperparathyroidism, compared to 15.3% in the non-ioPTH group.Despite adequate intraoperative PTH reduction, some patients in both groups exhibited isolated PTH elevation without hypercalcemia. Conclusion Although ioPTH monitoring did not significantly reduce the surgical failure rate in PTx for THPT, the use of ioPTH may meaningfully improve surgical completeness and reduce the risk of persistent or recurrent hyperparathyroidism, suggesting its substantial potential value as an intraoperative.

Zelkova serrata (Thunb.) Makino is a deciduous tree commonly distributed in East Asia. Several investigations have documented the biological activity of extracts of this species, igniting increased interest in its therapeutic potential. However, the phytochemical constituents accountable for these activities remain largely unexplored. In this study, we focused on the antioxidant potential of the leaves and twigs, utilizing bioactivityguided fractionation combined with LC-QTOF-MS online DPPH screening to systematically identify the active compounds. This approach led to the isolation of eight compounds, three of which (compounds 1, 3, and 7) have not previously been documented in the genus Zelkova. Among the isolates, 4 emerged as the most potent antioxidant, exhibiting significant radical scavenging activity in both DPPH (IC 50 = 13.67 ± 1.21 μM) and ABTS (IC50 = 2.69 ± 0.48 μM) assays, exceeding ascorbic acid (IC 50 = 61.51 ± 10.22 μM) and trolox (IC50 = 8.22 ± 2.16 μM), respectively. Our findings not only enrich the phytochemical profile of Z. serrata but also highlight the effectiveness of LC-MS-DPPH as an effective approach for rapid antioxidant discovery.

Purpose: This study evaluates the Korean Cancer Study Group Geriatric Score-7 (KG-7) frailty screening tool’s effectiveness in elderly multiple myeloma (MM) patients to prevent under and overtreatment. Materials and Methods: This prospective pilot cohort study included 100 elderly patients aged 70 and older with newly diagnosed MM who had not undergone transplantation from August 2020 to January 2022. Results: The median age was 77 years, and 73.0% of patients were classified at International Staging System stages 2 or 3. Using a 5-point cutoff on the KG-7 index (non-frail, score ≥ 5; frail, score < 5), 31% were categorized as frail. After a median follow-up of 26.8 months, the 3-year overall survival rate was 73.0%. There was no statistically significant association between any frailty index and the risk of death. However, frail patients defined by the simplified frailty index (hazard ratio [HR], 2.49; 95% confidence interval [CI], 1.09 to 5.95; p=0.030) and by KG-7 (HR, 2.43; 95% CI, 1.03 to 5.86; p=0.043) had a significantly higher risk of grade 3-4 non-hematologic toxicity, whereas the International Myeloma Working Group definition did not. Over a 24-month tracking period, vulnerability as measured by KG-7 either improved or deteriorated. Conclusion The pilot study, which had a limited number of participants, did not demonstrate KG-7’s effectiveness in predicting survival; however, it successfully predicted severe non-hematologic toxicities. We plan to conduct larger studies in elderly MM patients to determine whether KG-7 can help tailor their treatment regimens.

Purpose: High-cost novel therapies for multiple myeloma (MM) require evaluation of efficacy and cost-effectiveness. Materials and Methods: This study developed a methodology to assess cost-effectiveness using nationwide data from 11,450 newly diagnosed MM patients. A novel algorithm was applied to identify lines of therapy (LoT). Results: The number of newly diagnosed MM patients increased significantly, from 873 in 2010 to 1,464 in 2019 (p < 0.001). Advancing LoT was associated with shorter time to next treatment (TTNT) and overall survival (OS) (p < 0.001), while all-cause medical costs increased with each LoT (p < 0.001). Bortezomib-melphalan-prednisolone was the most common frontline regimen for transplant-ineligible patients (29.2%), while bortezomib-thalidomide-dexamethasone was most used for transplant-eligible patients (11.3%). Daratumumab monotherapy demonstrated superior second TTNT (7.8 vs. 5.2 months) and OS (8.5 vs. 5.3 months) compared to standard care in heavily treated MM patients, with statistical significance maintained after cost adjustment. For subsequent therapies following daratumumab, a methodology was developed to estimate required medical costs using the incremental cost-effectiveness ratio (ICER): Expected cost ($)=ICER×(Expected life expectancy–0.567)+35,601. Conclusion This study provides a novel cost-effectiveness framework linking treatment efficacy and real-world costs, supporting predictions of societal costs for future MM therapies.

Background/Aims: Portal vein thrombosis (PVT) frequently occurs in patients with inflammatory bowel disease (IBD), particularly when influenced by factors such as abdominal infections, IBD flare-ups, or surgical procedures. The implications of PVT range from immediate issues such as intestinal ischemia to long-term concerns including portal hypertension and its complications. However, there is a notable gap in comprehensive studies on PVT in IBD, especially with the increasing incidence of IBD in Asia. This research aimed to evaluate the clinical features and outcomes of PVT in patients with IBD at a leading hospital in South Korea. Methods: This retrospective analysis reviewed adult patients diagnosed with both IBD and PVT from 1989 to 2021 at a renowned South Korean medical center. The study focused on patient characteristics, specifics of PVT, administered treatments, and outcomes, all confirmed through enhanced CT scans. Results: A total of 78 patients met the study’s criteria. Notably, only 20.5% (16/78) were treated with oral anticoagulants; however, a vast majority (96.2%; 75/78) achieved complete radiographic resolution (CRR). When comparing patients receiving anticoagulants to those who did not, a significant preference for anticoagulant use was observed in cases where the main portal vein was affected, as opposed to just the left or right veins (p = 0.006). However, multivariable analysis indicated that neither anticoagulant use nor previous surgeries significantly impacted CRR. Conclusions Patients with IBD and PVT generally had favorable outcomes, regardless of anticoagulant use.

Purpose: Inotuzumab ozogamicin (INO) has demonstrated a safe bridging role to allogeneic hematopoietic stem cell transplantation (HSCT) in patients with relapsed or refractory B-cell acute lymphoblastic leukemia (R/R B-ALL). How‑ ever, hepatic veno-occlusive disease/sinusoidal obstruction syndrome (VOD/SOS) is frequently observed. This study aimed to identify significant features of INO-associated VOD/SOS. Methods: We reviewed seven cases of hepatic VOD/SOS that developed either during INO salvage or after alloge‑ neic HSCT following INO-induced complete remission (CR). Diagnosis and severity grading of VOD/SOS were based on the revised criteria from the European Society for Blood and Marrow Transplantation. Defibrotide was used to treat severe to very severe cases. Results: Four patients developed VOD/SOS during INO salvage therapy (at 21 and 36 days post-INO1, 77 days postINO3, and 21 days post-INO5), while three were diagnosed at 2, 5, and 10 days post-HSCT following INO-induced CR.Doppler ultrasonography revealed preserved portal vein flow (range 10.2–26.0 cm/sec) and normal hepatic artery resistive index (RI, range 0.56–0.74) in all but one patient (RI 0.83). Despite this, all patients presented with massive ascites and progressively elevated total bilirubin levels. All cases were classified as severe to very severe; six were treated with defibrotide and one underwent liver transplantation. Most patients ultimately died owing to VOD/SOS progression. Conclusion Post-INO VOD/SOS manifested as two different clinical settings and was characterized by preserved portal vein flow, which complicated diagnosis. Despite timely defibrotide administration, clinical outcomes were poor.These findings emphasize the need for vigilance and potential consideration of prophylactic strategies for prevention of INO-associated VOD/SOS.

Purpose: Since 1995, the Korean Gastric Cancer Association (KGCA) has been periodically conducting nationwide surveys on patients with surgically treated gastric cancer. This study details the results of the survey conducted in 2023. Materials and Methods: The survey was conducted from March to December 2024 using a standardized case report form. Data were collected on 86 items, including patient demographics, tumor characteristics, surgical procedures, and surgical outcomes. The results of the 2023 survey were compared with those of previous surveys. Results: Data from 12,751 cases were collected from 66 institutions. The mean patient age was 64.6 years, and the proportion of patients aged ≥71 years increased from 9.1% in 1995 to 31.7% in 2023. The proportion of upper-third tumors slightly decreased to 16.8% compared to 20.9% in 2019. Early gastric cancer accounted for 63.1% of cases in 2023.Regarding operative procedures, a totally laparoscopic approach was most frequently applied (63.2%) in 2023, while robotic gastrectomy steadily increased to 9.5% from 2.1% in 2014.The most common anastomotic method was the Billroth II procedure (48.8%) after distal gastrectomy and double-tract reconstruction (51.9%) after proximal gastrectomy in 2023.However, the proportion of esophago-gastrostomy with anti-reflux procedures increased to 30.9%. The rates of post-operative mortality and overall complications were 1.0% and 15.3%, respectively. Conclusions The results of the 2023 nationwide survey demonstrate the current status of gastric cancer treatment in Korea. This information will provide a basis for future gastric cancer research.

Purpose: This study aimed to report the results of Korean Antimicrobial Resistance Monitoring System (KARMS) for uncomplicated cystitis (UC) in 2023. Materials and Methods: KARMS was established for the surveillance of antimicrobial resistance in urinary tract infections with the cooperation of Korean nationwide medical centers. Data from patients with UC have been collected in the web-based KARMS database. Demographic data, uropathogen distribution, and antimicrobial susceptibility of representative pathogens were analyzed. Results: A total of 885 patients’ data were collected in KARMS database. The mean patient age was 56.39±18.26 years. The number of postmenopausal and recurrent cystitis were 530 (61.1%) and 102 (11.5%), respectively. Escherichia coli was the most frequently identified uropathogen (654/871, 75.1%). Regarding antimicrobial susceptibility, 94.9% were susceptible to fosfomycin, 90.5% to nitrofurantoin, 58.4% to ciprofloxacin, 83.6% to cefotaxime, and 100.0% to ertapenem. ESBL positivity was 13.7% (96/702), and significantly higher in tertiary hospital (23.1%, p<0.001), postmenopausal (15.9%, p=0.044), and recurrent cystitis (24.7%, p=0.001).Fluoroquinolone resistance was significantly higher in tertiary hospital (47.4%, p=0.001), postmenopausal (44.9%, p<0.001), and recurrent cystitis (59.8%, p<0.001). In addition, postmenopausal (odds ratio [OR] 1.96, 95% confidence interval [CI] 1.38–2.77, p<0.001) and recurrent cystitis (OR 2.37, 95% CI 1.44–3.92, p=0.001) were associated with increased fluoroquinolone resistance. Conclusions These data provide information on the distribution of uropathogen and the status of antimicrobial resistance in UC of South Korea. In addition, KARMS will be a useful reference in the future through the continuous surveillance system construction over the years.