Background: Structural variants (SVs) are currently analyzed using a combination of conventional methods; however, this approach has limitations. Optical genome mapping (OGM), an emerging technology for detecting SVs using a single-molecule strategy, has the potential to replace conventional methods. We compared OGM with conventional diagnostic methods for detecting SVs in various hematologic malignancies. Methods: Residual bone marrow aspirates from 27 patients with hematologic malignancies in whom SVs were observed using conventional methods (chromosomal banding analysis, FISH, an RNA fusion panel, and reverse transcription PCR) were analyzed using OGM. The concordance between the OGM and conventional method results was evaluated. Results: OGM showed concordance in 63% (17/27) and partial concordance in 37% (10/27) of samples. OGM detected 76% (52/68) of the total SVs correctly (concordance rate for each type of SVs: aneuploidies, 83% [15/18]; balanced translocation, 80% [12/15] unbalanced translocation, 54% [7/13] deletions, 81% [13/16]; duplications, 100% [2/2] inversion 100% [1/1]; insertion, 100% [1/1]; marker chromosome, 0% [0/1];isochromosome, 100% [1/1]). Sixteen discordant results were attributed to the involvement of centromeric/telomeric regions, detection sensitivity, and a low mapping rate and coverage. OGM identified additional SVs, including submicroscopic SVs and novel fusions, in five cases. Conclusions OGM shows a high level of concordance with conventional diagnostic methods for the detection of SVs and can identify novel variants, suggesting its potential utility in enabling more comprehensive SV analysis in routine diagnostics of hematologic malignancies, although further studies and improvements are required.

Purpose: With the revision of the Organ and Transplantation Act in 2018, the hand has become legal as an area of transplantable organs in Korea. In January 2021, the first hand allotransplantation since legalization was successfully performed, and we have performed a total of three successful hand transplantation since then. By comparing and incorporating our experiences, this study aimed to provide a comprehensive reconstructive solution for hand amputation in Korea. Materials and Methods: Recipients were selected through a structured preoperative evaluation, and hand transplantations were performed at the distal forearm level. Postoperatively, patients were treated with three-drug immunosuppressive regimen, and functional outcomes were monitored. Results: The hand transplantations were performed without intraoperative complications. All patients had partial skin necrosis and underwent additional surgical procedures in 2 months after transplantation. After additional operations, no further severe complications were observed. Also, patients developed acute rejection within 3 months of surgery, but all resolved within 2 weeks after steroid pulse therapy. Motor and sensory function improved dramatically, and patients were very satisfied with the appearance and function of their transplanted hands. Conclusion Hand transplantation is a viable reconstructive option, and patients have shown positive functional and psychological outcomes. Although this study has limitations, such as the small number of patients and short follow-up period, we should focus on continued recovery of hand function, and be careful not to develop side effects from immunosuppressive drugs. Through the present study, we will continue to strive for a bright future regarding hand transplantation in Korea.

Background: To deliver therapeutics into the brain, it is imperative to overcome the issue of the blood-brain-barrier (BBB). One of the ways to circumvent the BBB is to administer therapeutics directly into the brain parenchyma. To enhance the treatment efficacy for chronic neurodegenerative disorders, repeated administration to the target location is required. However, this increases the number of operations that must be performed. In this study, we developed the IntraBrain Injector (IBI), a new implantable device to repeatedly deliver therapeutics into the brain parenchyma. Methods: We designed and fabricated IBI with medical grade materials, and evaluated the efficacy and safety of IBI in 9 beagles. The trajectory of IBI to the hippocampus was simulated prior to surgery and the device was implanted using 3D-printed adaptor and surgical guides. Ferumoxytol-labeled mesenchymal stem cells (MSCs) were injected into the hippocampus via IBI, and magnetic resonance images were taken before and after the administration to analyze the accuracy of repeated injection. Results: We compared the planned vs. insertion trajectory of IBI to the hippocampus.With a similarity of 0.990 ± 0.001 (mean ± standard deviation), precise targeting of IBI was confirmed by comparing planned vs. insertion trajectories of IBI. Multiple administrations of ferumoxytol-labeled MSCs into the hippocampus using IBI were both feasible and successful (success rate of 76.7%). Safety of initial IBI implantation, repeated administration of therapeutics, and long-term implantation have all been evaluated in this study. Conclusion Precise and repeated delivery of therapeutics into the brain parenchyma can be done without performing additional surgeries via IBI implantation.

Background and Objectives: Prior studies have shown that stroke patients treated with percutaneous left atrial appendage occlusion (LAAO) for non-valvular atrial fibrillation (NVAF) experience better outcomes than similar patients treated with warfarin. We investigated the impact of percutaneous left atrial appendage closure on post-stroke neurological outcomes in NVAF patients, compared with non-vitamin K antagonist oral anticoagulant (NOAC) therapy. Methods: Medical records for 1,427 patients in multiple registries and for 1,792 consecutive patients at 6 Korean hospitals were reviewed with respect to LAAO or NOAC treatment.Stroke severity in patients who experienced ischemic stroke or transient ischemic attack after either treatment was assessed with modified Rankin Scale (mRS) scoring at hospital discharge and at 3 and 12 months post-stroke. Results: mRS scores were significantly lower in LAAO patients at 3 (p<0.01) and 12 months (p<0.01) post-stroke, despite no significant differences in scores before the ischemic cerebrovascular event (p=0.22). The occurrences of disabling ischemic stroke in the LAAO and NOAC groups were 36.7% and 44.2% at discharge (p=0.47), 23.3% and 44.2% at 3 months post-stroke (p=0.04), and 13.3% and 43.0% at 12 months post-stroke (p=0.01), respectively.Recovery rates for disabling ischemic stroke at discharge to 12 months post-stroke were significantly higher for LAAO patients (50.0%) than for NOAC patients (5.6%) (p<0.01). Conclusions Percutaneous LAAO was associated with more favorable neurological outcomes after ischemic cerebrovascular event than NOAC treatment.

Background and Objectives: Prior studies have shown that stroke patients treated with percutaneous left atrial appendage occlusion (LAAO) for non-valvular atrial fibrillation (NVAF) experience better outcomes than similar patients treated with warfarin. We investigated the impact of percutaneous left atrial appendage closure on post-stroke neurological outcomes in NVAF patients, compared with non-vitamin K antagonist oral anticoagulant (NOAC) therapy. Methods: Medical records for 1,427 patients in multiple registries and for 1,792 consecutive patients at 6 Korean hospitals were reviewed with respect to LAAO or NOAC treatment.Stroke severity in patients who experienced ischemic stroke or transient ischemic attack after either treatment was assessed with modified Rankin Scale (mRS) scoring at hospital discharge and at 3 and 12 months post-stroke. Results: mRS scores were significantly lower in LAAO patients at 3 (p<0.01) and 12 months (p<0.01) post-stroke, despite no significant differences in scores before the ischemic cerebrovascular event (p=0.22). The occurrences of disabling ischemic stroke in the LAAO and NOAC groups were 36.7% and 44.2% at discharge (p=0.47), 23.3% and 44.2% at 3 months post-stroke (p=0.04), and 13.3% and 43.0% at 12 months post-stroke (p=0.01), respectively.Recovery rates for disabling ischemic stroke at discharge to 12 months post-stroke were significantly higher for LAAO patients (50.0%) than for NOAC patients (5.6%) (p<0.01). Conclusions Percutaneous LAAO was associated with more favorable neurological outcomes after ischemic cerebrovascular event than NOAC treatment.

Tyrosine kinase inhibitors are widely used as targeted treatments for various malignancies. Sorafenib is an orally active tyrosine kinase inhibitor that blocks the signaling pathways of several growth factors. Its use is approved for various malignancies such as unresectable hepatocellular carcinoma, renal cell carcinoma, and gastrointestinal stromal tumors. Several adverse effects have been reported in the literature; however, cardiotoxicity is rare. We present a case of recurrent coronary vasospasm caused by short-term administration (5 days) of sorafenib. Since it caused refractory ischemia after re-administration, we had no choice but to stop the treatment.

BACKGROUND AND OBJECTIVES: This study aimed to confirm the effects of traditional holidays on the incidence and outcomes of out-of-hospital cardiac arrest (OHCA) in South Korea. METHODS: We studied 95,066 OHCAs of cardiac cause from a nationwide, prospective study from the Korea OHCA Registry from January 2012 to December 2016. We compared the incidence of OHCA, in-hospital mortality, and neurologic outcomes between traditional holidays, Seollal (Lunar New Year's Day) and Chuseok (Korean Thanksgiving Day), and other day types (weekday, weekend, and public holiday). RESULTS: OHCA occurred more frequently on traditional holidays than on the other days. The median OHCA incidence were 51.0 (interquartile range [IQR], 44.0–58.0), 53.0 (IQR, 46.0–60.5), 52.5 (IQR, 45.3–59.8), and 60.0 (IQR, 52.0–69.0) cases/day on weekday, weekend, public holiday, and traditional holiday, respectively (p<0.001). The OHCA occurred more often at home rather than in public place, lesser bystander cardiopulmonary resuscitation (CPR) was performed, and the rate of cessation of CPR within 20 minutes without recovery of spontaneous circulation was higher on traditional holiday. After multivariable adjustment, traditional holiday was associated with higher in-hospital mortality (adjusted hazard ratio [HR], 1.339; 95% confidence interval [CI], 1.058–1.704; p=0.016) but better neurologic outcomes (adjusted HR, 0.503; 95% CI, 0.281–0.894; p=0.020) than weekdays. CONCLUSIONS: The incidence of OHCAs was associated with day types in a year. It occurred more frequently on traditional holidays than on other day types. It was associated with higher in-hospital mortality and favorable neurologic outcomes than weekday.
Cardiopulmonary Resuscitation ; Epidemiology ; Heart Arrest ; Holidays ; Hospital Mortality ; Incidence ; Korea ; Mortality ; Out-of-Hospital Cardiac Arrest ; Prospective Studies

BACKGROUND AND OBJECTIVES: Screening and early diagnosis for heart failure (HF) are critical. However, conventional screening diagnostic methods have limitations, and electrocardiography (ECG)-based HF identification may be helpful. This study aimed to develop and validate a deep-learning algorithm for ECG-based HF identification (DEHF). METHODS: The study involved 2 hospitals and 55,163 ECGs of 22,765 patients who performed echocardiography within 4 weeks were study subjects. ECGs were divided into derivation and validation data. Demographic and ECG features were used as predictive variables. The primary endpoint was detection of HF with reduced ejection fraction (HFrEF; ejection fraction [EF]≤40%), and the secondary endpoint was HF with mid-range to reduced EF (≤50%). We developed the DEHF using derivation data and the algorithm representing the risk of HF between 0 and 1. We confirmed accuracy and compared logistic regression (LR) and random forest (RF) analyses using validation data. RESULTS: The area under the receiver operating characteristic curves (AUROCs) of DEHF for identification of HFrEF were 0.843 (95% confidence interval, 0.840–0.845) and 0.889 (0.887–0.891) for internal and external validation, respectively, and these results significantly outperformed those of LR (0.800 [0.797–0.803], 0.847 [0.844–0.850]) and RF (0.807 [0.804–0.810], 0.853 [0.850–0.855]) analyses. The AUROCs of deep learning for identification of the secondary endpoint was 0.821 (0.819–0.823) and 0.850 (0.848–0.852) for internal and external validation, respectively, and these results significantly outperformed those of LR and RF. CONCLUSIONS: The deep-learning algorithm accurately identified HF using ECG features and outperformed other machine-learning methods.
Artificial Intelligence ; Early Diagnosis ; Echocardiography ; Electrocardiography ; Forests ; Heart Failure ; Heart ; Humans ; Learning ; Logistic Models ; Machine Learning ; Mass Screening ; ROC Curve

BACKGROUND AND OBJECTIVES: Screening and early diagnosis for heart failure (HF) are critical. However, conventional screening diagnostic methods have limitations, and electrocardiography (ECG)-based HF identification may be helpful. This study aimed to develop and validate a deep-learning algorithm for ECG-based HF identification (DEHF). METHODS: The study involved 2 hospitals and 55,163 ECGs of 22,765 patients who performed echocardiography within 4 weeks were study subjects. ECGs were divided into derivation and validation data. Demographic and ECG features were used as predictive variables. The primary endpoint was detection of HF with reduced ejection fraction (HFrEF; ejection fraction [EF]≤40%), and the secondary endpoint was HF with mid-range to reduced EF (≤50%). We developed the DEHF using derivation data and the algorithm representing the risk of HF between 0 and 1. We confirmed accuracy and compared logistic regression (LR) and random forest (RF) analyses using validation data. RESULTS: The area under the receiver operating characteristic curves (AUROCs) of DEHF for identification of HFrEF were 0.843 (95% confidence interval, 0.840–0.845) and 0.889 (0.887–0.891) for internal and external validation, respectively, and these results significantly outperformed those of LR (0.800 [0.797–0.803], 0.847 [0.844–0.850]) and RF (0.807 [0.804–0.810], 0.853 [0.850–0.855]) analyses. The AUROCs of deep learning for identification of the secondary endpoint was 0.821 (0.819–0.823) and 0.850 (0.848–0.852) for internal and external validation, respectively, and these results significantly outperformed those of LR and RF. CONCLUSIONS The deep-learning algorithm accurately identified HF using ECG features and outperformed other machine-learning methods.

BACKGROUND AND OBJECTIVES: This study aimed to confirm the effects of traditional holidays on the incidence and outcomes of out-of-hospital cardiac arrest (OHCA) in South Korea. METHODS: We studied 95,066 OHCAs of cardiac cause from a nationwide, prospective study from the Korea OHCA Registry from January 2012 to December 2016. We compared the incidence of OHCA, in-hospital mortality, and neurologic outcomes between traditional holidays, Seollal (Lunar New Year's Day) and Chuseok (Korean Thanksgiving Day), and other day types (weekday, weekend, and public holiday). RESULTS: OHCA occurred more frequently on traditional holidays than on the other days. The median OHCA incidence were 51.0 (interquartile range [IQR], 44.0–58.0), 53.0 (IQR, 46.0–60.5), 52.5 (IQR, 45.3–59.8), and 60.0 (IQR, 52.0–69.0) cases/day on weekday, weekend, public holiday, and traditional holiday, respectively (p<0.001). The OHCA occurred more often at home rather than in public place, lesser bystander cardiopulmonary resuscitation (CPR) was performed, and the rate of cessation of CPR within 20 minutes without recovery of spontaneous circulation was higher on traditional holiday. After multivariable adjustment, traditional holiday was associated with higher in-hospital mortality (adjusted hazard ratio [HR], 1.339; 95% confidence interval [CI], 1.058–1.704; p=0.016) but better neurologic outcomes (adjusted HR, 0.503; 95% CI, 0.281–0.894; p=0.020) than weekdays. CONCLUSIONS The incidence of OHCAs was associated with day types in a year. It occurred more frequently on traditional holidays than on other day types. It was associated with higher in-hospital mortality and favorable neurologic outcomes than weekday.