1.Detection of Fusion Genes Using RNA Sequencing in Acute Leukemia
Hyun-Young KIM ; Boram KIM ; Min-Seung PARK ; Jong-Ho PARK ; Hee Young JU ; Keon Hee YOO ; Jun Ho JANG ; Chul Won JUNG ; Hee-Jin KIM
Annals of Laboratory Medicine 2026;46(3):257-269
Background:
Fusion genes are major drivers of acute leukemia. Conventional diagnostics are limited in detecting the diverse fusions included in recently updated acute leukemia classifications. We evaluated the fusion detection performance of RNA sequencing (RNAseq) compared with that of conventional diagnostics in patients with acute leukemia.
Methods:
We retrospectively obtained the data of 101 patients with acute leukemia who underwent conventional diagnostics (i.e., karyotyping, FISH, or multiplex reverse transcription PCR) at diagnosis at Samsung Medical Center, Seoul, Korea, between September 2022 and September 2023. Whole RNA-seq was performed using the Illumina Stranded mRNA Prep kit (Illumina, San Diego, CA, USA). The concordance, sensitivity, and specificity of RNA-seq for fusion gene detection were compared with those of conventional diagnostics.
Results:
RNA-seq helped identify 52 fusion genes in 51 (50.5%) of 101 patients, with detection rates of 40.7%, 70.3%, 37.5%, and 50% in acute myeloid leukemia, B-cell acute lymphoblastic leukemia, T-cell acute lymphoblastic leukemia, and mixed-phenotype acute leukemia, respectively. RNA-seq showed 83.3% sensitivity and 80.8% concordance with conventional diagnostics; it missed eight fusions, likely because of low transcript abundance or enhancer hijacking. RNA-seq also helped clarify three previously unspecified rearrangements and detected 12 fusions (21.4%) in 56 cases that tested negative with conventional diagnostics, including four novel (KMT2A::THAP12 , RUNX1::PRPF19 , MLLT10::UBE2L6, and FUS::ZNF362) and three rare (HNRNPH1::ERG, RUNX1::USP42, and ETV6::NCOA2) fusions.
Conclusions
This was the first study to evaluate the performance of whole RNA-seq in fusion detection in patients with acute leukemia in Korea. Incorporating RNA-seq into diagnostic workflows may facilitate earlier and more precise therapeutic decisions and improve prognostic assessment in patients with acute leukemia.
2.Factors associated with glycemic control in Korean older adults with diabetes living alone: A secondary analysis
Hee Jung KIM ; Sun Ju CHANG ; Yujin PARK ; Joo Ri KIM ; Yeon Woo JUNG ; Gi Won CHOI
Journal of Korean Gerontological Nursing 2026;28(2):148-160
Older adults living alone face challenges in managing diabetes, yet research on glycemic control in this group is limited. This study analyzed data from the Korean National Health and Nutrition Examination Survey (2016~2021) to identify factors associated with glycemic control in 453 older adults with diabetes living alone. Methods: Glycemic control was categorized as good (glycated hemoglobin [HbA1c]<7.0%) or poor (HbA1c≥7.0%). Complex sample logistic regression examined demographic, disease and health-related, behavioral, and psychological factors associated with glycemic control. Results: Older adults aged ≥80 years had better glycemic control than those aged 65~69 years, while a diabetes duration of ≥15 years and higher body mass index were linked to poorer control. Strength training 5~7 days per week was associated with better control, whereas non-adherence to a healthy diet was unexpectedly linked to better outcomes. Conclusion: These findings highlight the need for tailored interventions to improve diabetes self-management and support healthy aging among older adults living alone. They also offer practical insights into shaping community-based health programs and social support systems for this population.
3.Masutakeside I from Styrax japonicus improves mitochondrial function to promote myogenesis in skeletal muscle cells
Eun-Ju SONG ; Ha-Eun LEE ; Ji-Won HEO ; Eonmi KIM ; Bomi KIM ; Sung-Eun KIM
Journal of Nutrition and Health 2026;59(1):13-26
Purpose:
Skeletal muscle, accounting for approximately 40% of the total body mass, plays a critical role in movement, postural support, and metabolic homeostasis. Muscle mass is determined by the balance between protein synthesis and degradation, which is closely regulated by the mitochondrial function. Mitochondrial dysfunctions contribute to muscle loss by promoting oxidative stress and cellular damage. This study examined the effects of masutakeside I, a lignan glycoside derived from Styrax japonicus, on the mitochondrial function and muscle differentiation in C2C12 myoblasts.
Methods:
C2C12 myoblasts differentiated into myotubes in the presence of masutakeside I (0–10 ng/mL). Myogenic differentiation was assessed by myosin heavy chain (MHC) immunofluorescence, and multinucleated myotubes and relative diameters were quantified.The mitochondrial function was evaluated by measuring the mitochondrial reactive oxygen species (ROS), mitochondrial mass, and mitochondrial membrane potential using MitoSOX, MitoTracker Green, and JC-1 staining, respectively. Gene expression related to muscle differentiation, protein degradation, and the mitochondrial life cycle was analyzed using quantitative reverse transcription polymerase chain reaction.
Results:
Masutakeside I significantly increased the number of multinucleated (≥ 5 nuclei) MHC-positive myotubes and relative myotube diameter compared to the control. In addition, masutakeside I upregulated the myogenic markers, including phosphoinositide 3-kinase and MHC isoforms (Myh2, Myh4, and Myh7), while significantly downregulating protein degradation–related genes, including mothers against decapentaplegic homolog 2/3, forkhead box protein O1, atrogin-1, and muscle RING finger-1. Masutakeside I modulated the mRNA expression of the mitochondrial function and mitophagy-related markers, suggesting its potential involvement in mitochondrial quality control. Consistent with these effects, the mitochondrial ROS levels decreased, whereas mitochondrial mass and membrane potential increased.
Conclusion
These findings suggest that masutakeside I modulates the markers related to myogenic differentiation, muscle protein degradation, and mitochondrial function.
4.What Should Be Done Right Now for Better Health System in 10 Years?: Health System Reform Tasks
Juhwan OH ; Sang-il LEE ; Kunhee PARK ; Seung-Won OH ; Junghee AHN ; HaDa RYUOK ; Eun Jin HA ; Seung-yeon CHO ; Sung-ju KIM ; Eunyoung CHO ; Hee Gyung KANG ; Serng Bai PAK ; Eun Kyung EO
Korean Journal of Family Practice 2026;16(1):1-8
South Korea’s current healthcare system stands at a critical crossroads that will determine whether it can progress in a better direction over the next decade. Behind the relatively stable level of population health that has been maintained until now, it has become clear that the deterioration of patient experiences, the risk of collapse in critical emergency medical services, the burnout of healthcare providers, and the crisis in the sustainability of healthcare finances have all accumulated simultaneously. This crisis can no longer be overcome by partial fixes or short-term measures alone. The answer to what needs to change first must begin with a reaffirmation of what the healthcare system should aim for. Ultimately, what needs to be changed now is not an individual policy, but the criteria and priorities through which we view healthcare. The focus must shift from what to provide more of, to questioning what holds greater social value. If such a shift does not begin now, in ten years we won’t face a better healthcare system, but care enmeshed in a deeper crisis. Now is precisely the time to fundamentally define the direction of the healthcare system.
5.Age Estimation Using Convolutional Neural Networks with Lumbar and Thoracic Spine Images from Postmortem Computed Tomography: A Pilot Study
Ju-Heon LEE ; Jin-Woo KIM ; Kyung-Ryoul KIM ; In-Soo SEO ; Nak-Won LEE ; Chang-Un CHOI ; Hye-Jeong KIM ; Byung-Yoon ROH
Korean Journal of Legal Medicine 2026;50(1):1-8
In forensic medicine, age estimation commonly involves assessing age-related changes in teeth and skeletal structures. Vertebral morphological alterations, such as osteophyte formation, serve as age indicators. Recent studies using deep-learning techniques, such as neural networks, for age estimation from radiographic images have been conducted, reporting significantly higher accuracy than previous studies. This study aimed to estimate age using neural network-based deep-learning techniques applied to computed tomography (CT) cross-sectional images of the spine and evaluate its feasibility. Postmortem CT scans of 214 cadavers with varying decomposition levels were used. Coronal and sagittal cross-sectional images penetrating the center of each vertebral body were extracted for the 11th and 12th thoracic vertebrae and the first to fifth lumbar vertebrae. Using these images, along with the chronological ages of deceased individuals, an age estimation model was developed through regression analysis in PyTorch, employing a convolutional neural networks architecture with five-fold cross-validation. The model achieved a mean absolute error of 5.385 years, root mean squared error of 7.029 years, and coefficient of determination of 0.793. Although the sample size was relatively small, the results suggested the potential applicability of vertebral imagingbased age estimation in the Korean population. Further research using a larger dataset may improve the accuracy and reliability of the model.
6.Eligibility and causes of disqualification among living liver donor candidates: A single-center analysis of 991 candidates
Eun-Ju NAM ; Jong-Hyun KIM ; Hae-In SHIN ; Young-In YOON ; Deok-Bog MOON ; Ki-Hun KIM ; Tae-Yong HA ; Gi-Won SONG ; Dong-Hwan JUNG ; Gil-Chun PARK ; Shin HWANG ; Sung-Gyu LEE
Annals of Liver Transplantation 2026;6(1):17-24
Background:
A systematic evaluation of potential living liver donors is essential to ensure donor safety and optimize recipient outcomes in living donor liver transplantation (LDLT). This study aimed to assess donor acceptance rates and reasons for disqualification among individuals evaluated for LDLT at a high-volume transplant center over a one-year period.
Methods:
We retrospectively reviewed 1,087 potential living liver donors who presented for LDLT evaluation in 2023. Of these, 991 candidates advanced beyond the initial screening (Stage 1) and underwent comprehensive clinical, imaging, and pathological assessments (Stages 2 and 3). Candidates who discontinued after Stage 1 were excluded due to the absence of documented reasons for non-progression.
Results:
Among the 991 candidates who proceeded beyond initial screening, 473 (47.7%) completed the full donor evaluation, of whom 466 were judged to be suitable donors. Among suitable donors, 384 (82.4%) proceeded to donor hepatectomy, whereas 82 did not, primarily due to recipient-related factors such as clinical deterioration or withdrawal of consent. Donor ineligibility was determined in 422 candidates (42.6%), most commonly due to inadequate remnant liver volume (52.8%), hepatic steatosis (20.6%), and insufficient graft size (10.2%). Among candidates undergoing Stage 2 evaluation, 162 (16.3%) failed to meet steatosis criteria; 126 were excluded solely for steatosis and advised weight reduction, and 39 subsequently became eligible and successfully donated.
Conclusion
In this high-volume LDLT center, donor disqualification was primarily driven by remnant liver volume and hepatic steatosis. Targeted interventions such as weight reduction enabled successful donation in a subset of initially ineligible candidates, underscoring the importance of individualized donor evaluation and pre-donation optimization.
7.Stress Accelerates Depressive-Like Behaviors through Increase of Notch2 Expression in N141I Mutation Presenilin-2 Transgenic Mice
Seung Sik YOO ; Sun Mi GU ; Kyung Tak NAM ; Jeong Soon CHOI ; Yong Sun LEE ; In Jun YEO ; Ji Eun YU ; Sanghyeon KIM ; Dong Won LEE ; Hyeon Joo HAM ; Ju Young CHANG ; Jaesuk YUN ; Dong Ju SON ; Sang-Bae HAN ; Jin Tae HONG
Biomolecules & Therapeutics 2026;34(3):544-555
Alzheimer’s disease (AD) is characterized by progressive cognitive deterioration and significant depression. However, the mechanisms linking depression to AD pathology remain unclear. Here, we investigated whether Notch2 signaling mediates depressionlike behaviors in presenilin-2 (PS2) N141I mutant mice, an early-onset AD model. PS2 wild-type (WT) and mutant (MT) mice aged 12-15 months were subjected to unpredictable chronic mild stress (UCMS) for 4 weeks, followed by sucrose preference, tail-hanging, and forced swimming tests. Behavioral assessments showed that UCMS exacerbated anhedonia and immobility only in PS2 MT mice. Molecular analysis revealed concomitant increases in plasma corticosterone, hippocampal γ-secretase activity, and Notch2 expression, and elevated total and phosphorylated glucocorticoid receptor levels in PS2 MT-UCMS mice. Gene expression profiling of human hippocampal datasets confirmed upregulation of NOTCH2 in Alzheimer’s disease and depression.Pharmacological inhibition of γ-secretase and Notch signaling with DAPT normalizes depressive behavior, reduces corticosterone release, attenuates GR phosphorylation, and inhibits Notch2 signaling in PS2 MT mice. These findings identify Notch2 as a pivotal mediator linking chronic stress to molecular changes associated with depression and AD, and suggest that targeting Notch2 signaling may provide therapeutic benefits for comorbid mood and neurodegenerative disorders.
9.Network meta-analysis and validation study of expanded liver transplantation criteria for hepatocellular carcinoma: Significant role of alpha-fetoprotein
Dongman YU ; Yeongseok HWANG ; Jin-Sung JU ; Subin HEO ; Seon-Ok KIM ; Sang Hyun CHOI ; Gi-Won SONG ; Jihyun AN ; Ju Hyun SHIM
Clinical and Molecular Hepatology 2026;32(2):751-771
Background/Aims:
Various expanded criteria (EC) for liver transplantation (LT) in patients with hepatocellular carcinoma (HCC) have been proposed to avoid the narrow nature of the Milan criteria (MC). To investigate which EC predicts more favorable outcomes in terms of overall survival (OS) and recurrence-free survival (RFS), we conducted a network meta-analysis (NMA).
Methods:
A database search was conducted on PubMed, Embase, and the Cochrane Library, to identify studies comparing OS and RFS between patients within the MC and those exceeding the MC but within the EC. Hazard ratios (HRs) were pooled using a random-effects NMA and validated in an in-house cohort of 1,008 LT recipients.
Results:
Among 22,466 articles identified, 35 studies with 45 pairwise comparisons were included in the NMA along with 8 different EC. The University of California San Francisco (HR, 1.43; 95% CI, 1.19–1.71), Up-to-Seven (HR, 1.50; 95% CI, 1.15–1.97), and Hangzhou criteria (HR, 1.69; 95% CI, 1.11–2.57) showed inferior OS to the MC. The MC ranked highest for both OS and RFS, followed by Metroticket 2.0 for OS and the Asan criteria for RFS. In the validation cohort, both Metroticket 2.0 and AFP model yielded more favorable HCC-specific mortality than other EC.
Conclusions
Several EC, of which those of Metroticket 2.0 were the best, yielded comparable outcomes to the MC. AFP-based EC such as Metroticket 2.0 and AFP model appeared to be useful in both the NMA and the validation cohort, suggesting a potential role in identifying selected low-risk patients beyond the MC.
10.The association between the consumption of raw Kudoa septempunctata–infected farmed Paralichthys olivaceus and gastrointestinal symptoms
Jihye AN ; En-Joo JUNG ; Soon-Ok LEE ; Jong-Hoon CHOI ; JungHee KIM ; Sung-Jong HONG ; Sung-Hee HONG ; Jung-Won JU ; Hyungjun KIM ; Kwang-Pil KO
Epidemiology and Health 2026;48(1):e2026003-
OBJECTIVES:
Kudoa septempunctata has been identified as the causative agent of food poisoning following the consumption of raw farmed Paralichthys olivaceus. However, cohort studies providing robust evidence for an association between K. septempunctata and gastrointestinal symptoms remain limited. This prospective cohort study investigated the association between the consumption of K. septempunctata–infected farmed P. olivaceus and the occurrence of gastrointestinal symptoms.
METHODS:
Individuals who purchased raw farmed P. olivaceus between 2020 and 2021 were selected as the study population. Study data included 2 rounds of questionnaire surveys administered before and after consumption, 2 muscle specimens obtained from each purchased fish, and human biological specimens collected from individuals who developed gastrointestinal symptoms within 24 hours after consumption. Data were analyzed using the chi-square test and t-test, and the association between consumption of K. septempunctata–infected farmed P. olivaceus and gastrointestinal symptoms was evaluated using relative risk estimates between exposure groups.
RESULTS:
The relative risk of gastrointestinal symptoms associated with exposure to K. septempunctata–infected P. olivaceus ranged from 71.2 (95% confidence interval [CI], 27.0 to 178.6) to 124.5 (95% CI, 43.5 to 355.0) across the 2 case definitions. A strong and statistically significant association was observed between exposure to K. septempunctata–infected P. olivaceus and the development of acute gastrointestinal symptoms.
CONCLUSIONS
These findings indicate both an association and a causal relationship between consumption of K. septempunctata–infected farmed P. olivaceus and the onset of gastrointestinal symptoms.

Result Analysis
Print
Save
E-mail