Background: The three best-known NUP214 rearrangements found in leukemia (SET::NUP214, NUP214::ABL1, and DEK::NUP214) are associated with treatment resistance and poor prognosis. Mouse experiments have shown that NUP214 rearrangements alone are insufficient for leukemogenesis; therefore, the identification of concurrent mutations is important for accurate assessment and tailored patient management. Here, we characterized the demographic characteristics and concurrent mutations in patients harboring NUP214 rearrangements. Methods: To identify patients with NUP214 rearrangements, RNA-sequencing results of diagnostic bone marrow aspirates were retrospectively studied. Concurrent targeted nextgeneration sequencing results, patient demographics, karyotypes, and flow cytometry information were also reviewed. Results: In total, 11 patients harboring NUP214 rearrangements were identified, among whom four had SET::NUP214, three had DEK::NUP214, and four had NUP214::ABL1. All DEK::NUP214-positive patients were diagnosed as having AML. In patients carrying SET::NUP214 and NUP214::ABL1, T-lymphoblastic leukemia was the most common diagnosis (50%, 4/8). Concurrent gene mutations were found in all cases. PFH6 mutations were the most common (45.5%, 5/11), followed by WT1 (27.3%, 3/11), NOTCH1 (27.3%, 3/11), FLT3-internal tandem duplication (27.3%, 3/11), NRAS (18.2%, 2/11), and EZH2 (18.2%, 2/11) mutations. Two patients represented the second and third reported cases of NUP214::ABL1-positive AML. Conclusions We examined the characteristics and concurrent test results, including gene mutations, of 11 leukemia patients with NUP214 rearrangement. We hope that the elucidation of the context in which they occurred will aid future research on tailored monitoring and treatment.

Purpose: We designed and evaluated the clinical performance of a plasma circulating tumor DNA (ctDNA) panel of 112 genes in various subtypes of lymphoma. Materials and Methods: Targeted deep sequencing with an error-corrected algorithm was performed in ctDNA from plasma samples that were collected before treatment in 42 lymphoma patients. Blood buffy coat was utilized as a germline control. We evaluated the targeted gene panel using mutation detection concordance on the plasma samples with matched tissue samples analyzed the mutation profiles of the ctDNA. Results: Next-generation sequencing analysis using matched tissue samples was available for 18 of the 42 patients. At least one mutation was detected in the majority of matched tissue biopsy samples (88.9%) and plasma samples (83.3%). A considerable number of mutations (40.4%) that were detected in the tissue samples were also found in the matched plasma samples. Majority of patients (21/42) were diffuse large B cell lymphoma patients. The overall detection rate of ctDNA in patients was 85.7% (36/42). The frequently mutated genes included PIM1, TET2, BCL2, KMT2D, KLHL6, HIST1H1E, and IRF8. A cutoff concentration (4,506 pg/mL) of ctDNA provided 88.9% sensitivity and 82.1% specificity to predict ctDNA mutation detection. The ctDNA concentration correlated with elevated lactate dehydrogenase level and the disease stage. Conclusion Our design panel can detect many actionable gene mutations, including those at low frequency. Therefore, liquid biopsy can be applied clinically in the evaluation of lymphoma patients, especially in aggressive lymphoma patients.

Objective: This study aimed to find changes in the job satisfaction of emergency physicians (EP) and suggest ways to objectively measure indicators of satisfaction for future surveys. Methods: A total of 2,138 emergency physicians were surveyed, using email questionnaires from January to February of 2021. The factors related to their job satisfaction were analyzed. Results: Emergency physicians’ satisfaction was low. The average number of times they experienced violence per year was 4.3±4.9 per year. Work intensity and salary satisfaction improved than those in the 2010, and 2015 Korean Emergency Physician Survey (KEPS). Health status, such as drowsiness, and depression rates, were low. Forty-three percentage of EPs said they would reapply for the emergency specialty. Conclusion Despite the increase in extrinsic indicators, job satisfaction remained low compared to those in the 2010, and 2015 KEPS. To improve job satisfaction, non-quantitative factors should be considered. It would be necessary to evolve a separate survey on job satisfaction and conduct regular surveys in this regard.

The treatment of complicated anterior cerebral artery aneurysms remains challenging. Here, the authors describe a case of ruptured complicated A3 aneurysm, which was treated with trapping and in-situ bypass. A 47-year-old man presented to the emergency department with severe headache and vomiting. Computed tomography illustrated acute intracerebral hemorrhage in the right frontal lobe. Digital subtraction angiography (DSA) confirmed a ruptured fusiform A3 aneurysm with lobulation and a daughter sac. Trapping of the ruptured fusiform A3 aneurysm and distal end-toside A4 anastomosis was performed. DSA on postoperative day 7 showed mild vasospasm to the afferent artery. However, 2 months later, DSA demonstrated that the antegrade flow through the anastomosis site had recovered. Thus, surgeons should be aware of the possibility of postsurgical vasospasm of anastomosed arteries, especially in cases of ruptured aneurysms.

Background: AML is a heterogeneous disease, and despite intensive therapy, recurrence is still high in AML patients who achieve the criterion for cytomorphologic remission (residual tumor burden [measurable residual disease, MRD]<5%). This study aimed to develop a targeted next-generation sequencing (NGS) panel to detect MRD in AML patients and validate its performance. Methods: We designed an error-corrected, targeted MRD-NGS panel without using physical molecular barcodes, including 24 genes. Fifty-four bone marrow and peripheral blood samples from 23 AML patients were sequenced using the panel. The panel design was validated using reference material, and accuracy was assessed using droplet digital PCR. Results: Dilution tests showed excellent linearity and a strong correlation between expected and observed clonal frequencies (R>0.99). The test reproducibly detected MRD in three dilution series samples, with a sensitivity of 0.25% for single-nucleotide variants. More than half of samples from patients with morphologic remission after one month of chemotherapy had detectable mutations. NGS-MRD positivity for samples collected after one month of chemotherapy tended to be associated with poor overall survival and progression-free survival. Conclusions Our highly sensitive and accurate NGS-MRD panel can be readily used to monitor most AML patients in clinical practice, including patients without gene rearrangement. In addition, this NGS-MRD panel may allow the detection of newly emerging clones during clinical relapse, leading to more reliable prognoses of AML.

Cicatrix ; Collagen Type I ; Collagen ; Contracture ; Desmin ; Down-Regulation ; Extracellular Matrix ; Fibroblasts ; Fibronectins ; Fibrosis ; Follistatin ; Genetic Therapy ; Immunohistochemistry ; Myofibroblasts ; Plasminogen Activator Inhibitor 1 ; RNA, Messenger ; Tendon Injuries ; Tendons ; Tissue Inhibitor of Metalloproteinase-1

STUDY DESIGN: Retrospective study (level of evidence: level 3). PURPOSE: To study the anatomy of the conus medullaris in Koreans. OVERVIEW OF LITERATURE: The anatomical position of the conus medullaris is well-documented in anatomy textbooks; however, the shape of the conus in the canal rarely described. Furthermore, to our knowledge, no study in Korea has not yet assessed the shape of the conus as well as its position in the canal via cadavaric dissection and/or magnetic resonance imaging (MRI). METHODS: MRI findings of 189 Korean patients aged 2–94 years (93 men and 94 women) were assessed. No subjects from other ethnicities were included. The method proposed by Arai and colleagues was used to assess the termination point and shape of the conus in the canal. The position of the intervertebral disc trisection of the vertebral body closest to the tip of the conus was recorded at the canal level. RESULTS: The tip of the conus medullaris was positioned from the upper T12 body to the L2–L3 disc, mostly in L1 bodies (52.4%), followed by the L2 bodies (22.5%), the L1–L2 disc, and the L2–L3 disc (1.1%). The shape of the conus was classified as type A in 74 (39.6%), type B in 58 (31%), and type C in 55 patients (29.4%). The conus did not terminate at the L3 body in any patient. In the first decade ones (five children) conus positioned rather lowly from L1 bodies to L2–L3 disc, and no type A conus shape, and mostly type B (80%). CONCLUSIONS: The conus medullaris was positioned mostly in the lower one-third of L1 and it in the first decades terminated lowly. No type A in the first decade one, and type B was mostly frequently formed which was followed by type C.
Asian Continental Ancestry Group ; Conus Snail ; Humans ; Intervertebral Disc ; Korea ; Magnetic Resonance Imaging ; Male ; Methods ; Retrospective Studies ; Spinal Cord

BACKGROUND AND OBJECTIVES: There are no data comparing clinical outcomes of complex percutaneous coronary intervention (PCI) between biodegradable polymer-biolimus-eluting stents (BP-BES) and durable polymer-everolimus-eluting stents (DP-EES). We sought to evaluate the safety and efficacy of BP-BES compared with DP-EES in patients undergoing complex PCI. METHODS: Patients enrolled in the SMART-DESK registry were stratified into 2 categories based on the complexity of PCI. Complex PCI was defined as having at least one of the following features: unprotected left main lesion, ≥2 lesions treated, total stent length >40 mm, minimal stent diameter ≤2.5 mm, or bifurcation as target lesion. The primary outcome was target lesion failure (TLF), defined as a composite of cardiac death, target vessel-related myocardial infarction (TV-MI), or target lesion revascularization (TLR) at 2 years of follow-up. RESULTS: Of 1,999 patients, 1,145 (57.3%) underwent complex PCI: 521 patients were treated with BP-BES and 624 with DP-EES. In propensity-score matching analysis (481 pairs), the risks of TLF (3.8% vs. 5.2%, adjusted hazard ratio [HR], 0.578; 95% confidence interval [CI], 0.246–1.359; p=0.209), cardiac death (2.5% vs. 2.5%, adjusted HR, 0.787; 95% CI, 0.244–2.539; p=0.689), TV-MI (0.5% vs. 0.4%, adjusted HR, 1.128; 95% CI, 0.157–8.093; p=0.905), and TLR (1.1% vs. 2.9%, adjusted HR, 0.390; 95% CI, 0.139–1.095; p=0.074) did not differ between 2 stent groups after complex PCI. CONCLUSIONS Clinical outcomes of BP-BES were comparable to those of DP-EES at 2 years after complex PCI. Our data suggest that use of BP-BES is acceptable, even for complex PCI.

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.