1.Association of ASXL1 and RUNX1 Variants with Splenomegaly in Myelodysplastic Syndromes Based on Next-generation Sequencing and Computed Tomography Data: A Retrospective Study
Youngjae HUH ; Jaebon LEE ; Inha HWANG ; Ye Eun YOON ; Eun Jin LEE ; Taekyu LIM ; Jae Won YUN
Annals of Laboratory Medicine 2026;46(1):104-109
Although splenomegaly is typically uncommon in myelodysplastic syndromes (MDS), it is associated with reduced engraftment rates and poor survival outcomes. Despite its clinical significance, the incidence and genetic associations of splenomegaly in MDS remain understudied. To address this, we conducted a retrospective study of 27 patients with MDS at the Veterans Health Service Medical Center in South Korea. Based on computed tomography scan evaluation, splenomegaly was identified in 26% of patients with MDS, and significant associations with variants in ASXL1 (P = 0.0089 for null and missense/inframe variants) and RUNX1 (P = 0.042 for null variants) were observed, suggesting that these variants are linked to an increased risk of splenomegaly. Notably, one patient with ASXL1 and TET2 variants developed severe splenomegaly (spleen size, 29 cm) following granulocyte colony-stimulating factor (G-CSF) treatment, requiring splenectomy. This case suggests a potential interaction between specific genetic variants and G-CSF sensitivity, potentially exacerbating splenomegaly. Our findings suggest that the incidence of splenomegaly in patients with MDS, including mild cases, is likely underestimated and that ASXL1 and RUNX1 variants increase the risk of splenomegaly. Furthermore, careful monitoring for the development of severe splenomegaly during G-CSF treatment may be warranted in genetically susceptible individuals with MDS.
2.Establishing the 2025 Dietary Reference Intakes for Koreans: lessons learned, current challenges, and the path forward
Ji-Yun HWANG ; Kirang KIM ; Jae Eun SHIM ; Hyesook KIM ; Yun-Jung BAE ; Jounghee LEE ; Mi Ock YOON ; Su-Jin LEE
Journal of Nutrition and Health 2026;59(2):93-114
This review summarizes the establishment of the 2025 Dietary Reference Intakes for Koreans (KDRIs), the third national standard for nutrient reference values in Korea. The 2025KDRIs build on lessons from revisions in 2010, 2015, and 2020, and chart a path forward by addressing 4 priorities: upgrading the scientific evidence base through systematic evaluation, strengthening intake monitoring using national survey data, advancing international harmonization, and responding to changes in the nutrition and health environment, including those associated with the coronavirus disease 2019 (COVID-19) pandemic. The scientific basis of the KDRIs was advanced by systematically evaluating the findings across exposure indicators, health assessment indicators, and the health outcomes, and reorganizing the indicators to estimate the nutrient requirements. Adequate Intake was set using explicit criteria when an Estimated Average Requirement could not be derived, data gaps, uncertain outcomes, and limited representativeness were documented. Key inputs, including coefficients of variation and uncertainty factors, as well as life stage estimation procedures, were re-evaluated in alignment with current evidence and international standards. The 2025 KDRIs incorporate intake evidence from the Korea National Health and Nutrition Examination Survey to inform policy and practice and support intake monitoring. For international harmonization, the NUQUEST-based literature framework was updated, and recent DRIs from other countries were compared. The shifts in anthropometric characteristics and dietary intake patterns observed during the COVID-19 pandemic were considered to reflect a changing context. The review identified remaining challenges for future revisions, including validating Koreanspecific indicators, developing evidence for infants and older adults, stronger translation of reference values into policy and practice, prioritizing of nutrients for future review within the 5-year revision cycle. Together, these advances will position the 2025 KDRIs as a science-based national reference integrating policy, practice, and evidence to support implementation aimed at improving nutritional status and healthy life expectancy in Korea.
3.HER2-low and ultralow breast cancer: interobserver challenges and lessons from a consensus study
Jiwon KOH ; Yoon Jin CHA ; Eun Yoon CHO ; Ahwon LEE ; Ja Seung KOO ; So Yeon PARK ; Min Hwan KIM ; Jae Ho JEONG ; Gyungyub GONG
Journal of Pathology and Translational Medicine 2026;60(3):331-337
The recent approval of trastuzumab deruxtecan for human epidermal growth factor receptor 2 (HER2)–low and HER2-ultralow breast cancer mandates an adequate assessment of these categories. Methods: Seven breast pathologists from the Breast Pathology Study Group of the Korean Society of Pathologists held an on-site expert consensus meeting. Fifteen sets of virtual whole slide images (WSI) of hematoxylin and eosin stain and HER2 immunohistochemistry were provided. The pathologists were given 60 minutes to submit their diagnosis of HER2 expression into null, ultralow, 1+, 2+, or 3+. Afterwards, in-depth discussion and consensus diagnoses were made by real-time visualization of the WSI. Results: After the consensus meeting, unanimous 100% agreements were seen only in five (33.3%) of the examined cases, which consisted of three 1+ cases and two 2+ cases. Two cases (13.3%) had mild disagreement, with only one pathologist’s disagreement. Of note, eight cases (53.3%) showed significant disagreement, defined by more than two pathologists’ disagreement. All HER2-null cases were reclassified as ultralow after consensus review, suggesting potential widespread underclassification of ultralow cases in clinical practice. Conclusions: Experts had significant discrepancies in interpreting HER2-low/ultralow status. It is important to assess if the distinction between HER2-low and ultralow is strictly required and if HER2-null breast cancer exists in reality.
4.Ultrasound Imaging Features Associated With Neoplastic Gallbladder Polyps: A Systematic Review and Meta-Analysis
Sunyoung LEE ; Won CHANG ; Yeun-Yoon KIM ; Jin Young PARK ; Sun Kyung JEON ; Jeong Eun LEE ; Jeongin YOO ; Seungchul HAN ; So Hyun PARK ; Jae Hyun KIM ; Hyo Jung PARK ; Hyun-Soo ZHANG ; Jeong Hee YOON
Korean Journal of Radiology 2026;27(4):332-343
Objective:
Although most gallbladder polyps are benign, some neoplastic polyps may be malignant or may serve as precursors to malignancy. Distinguishing neoplastic and non-neoplastic polyps using imaging examinations remains a major challenge.This meta-analysis aimed to identify the ultrasound (US) features that are significantly associated with neoplastic polyps.
Materials and Methods:
The MEDLINE, EMBASE, Cochrane, and KoreaMed databases were searched for articles published up to August 31, 2025. Bivariate random-effects models were used to calculate the meta-analytic pooled diagnostic odds ratios (DORs), sensitivities, and specificities, along with their 95% confidence intervals (CIs), for each US imaging feature in the diagnosis of neoplastic polyps.
Results:
Thirty studies evaluating 8,953 patients, including 1,216 (13.6%) patients with neoplastic polyps, were included.Among the nine evaluated US imaging features, namely, size ≥10 mm, sessile morphology, single polyp, coexisting gallstones, hypoechogenicity, heterogeneous echogenicity, gallbladder wall thickening (GBWT), absence of hyperechoic spot, and vascularity, eight were significantly associated with neoplastic polyps: size ≥10 mm (DOR: 6.23 [95% CI: 1.86– 20.90]), sessile morphology (DOR: 3.54 [1.93–5.97]), single polyp (DOR: 2.21 [1.76–2.74]), coexisting gallstones (DOR:1.86 [1.29–2.60]), hypoechogenicity (DOR: 3.55 [1.47–7.30]), GBWT (DOR: 9.38 [1.47–32.20]), absence of hyperechoic spots (DOR: 4.23 [2.46–6.83]), and vascularity (DOR: 9.72 [5.81–15.30]). Of these, size ≥10 mm demonstrated the highest pooled sensitivity (0.79 [95% CI: 0.68–0.87]), whereas hypoechogenicity showed the highest pooled specificity (0.93 [95% CI: 0.82–0.98]).
Conclusion
Eight US imaging features (size ≥10 mm, sessile morphology, single polyp, coexisting gallstones, hypoechogenicity, GBWT, absence of hyperechoic spots, and vascularity) were significantly associated with the presence of neoplastic polyps.These features may facilitate the management of gallbladder polyps.
5.The silent penetrating cardiac injury: a case of a self-modified board marker in the right ventricle
Jae Chol YOON ; Tae Yun KIM ; Taeuk HA ; So Eun KIM
Journal of the Korean Society of Emergency Medicine 2026;37(1):63-66
Penetrating cardiac foreign body injuries are infrequent but potentially life-threatening occurrences. This paper presents a brief case report of a patient who presented to the emergency department (ED) with self-inflicted injuries. A 14-cm cylindrical hollow stick was embedded into his right ventricle. Remarkably, the patient remained hemodynamically stable and showed no significant symptoms. The clinical manifestations of penetrating cardiac foreign body injuries may vary from a stable hemodynamic condition to a rapid cardiovascular collapse. A penetrating cardiac foreign body is a rare traumatic injury encountered in the ED. Nevertheless, an awareness of this case is essential because it provides insights into the diversity of presentations of cardiac foreign body injuries. Although these injuries often manifest with severe symptoms such as cardiac tamponade, massive hemothorax, or even cardiac arrest, this case shows that patients may remain hemodynamically stable and asymptomatic, making a diagnosis challenging.
6.Clinical Efficacy of Real-Time Artificial Intelligence-Assisted Colonoscopy in Colorectal Polyp Detection: A Prospective Multicenter Randomized Controlled Trial
Han Jo JEON ; Bora KEUM ; Eui Sun JEONG ; Seong-Eun KIM ; Chang Mo MOON ; Bomee LEE ; Sanghyun KIM ; Hyuk Soon CHOI ; Jae Min LEE ; Eun Sun KIM ; Yoon Tae JEEN
Gut and Liver 2026;20(1):97-106
Background/Aims:
Early detection and removal of colon polyps are critical for preventing colorectal cancer. Computer-aided detection (CADe) systems have been introduced to increase the polyp detection rate (PDR) during colonoscopy, potentially enhancing its effectiveness. This study aimed to evaluate the efficacy of a CADe system in colorectal neoplasm detection.
Methods:
This prospective, randomized controlled trial was conducted at two tertiary centers (May 2023 to April 2025). Patients were randomly assigned to CADe or conventional colonoscopy and underwent screening, surveillance, or diagnostic colonoscopy. The primary endpoint was the adenoma detection rate (ADR), while the secondary endpoints were the PDR, relative risk (RR) of polyp detection, adenomas per colonoscopy (APC), and factors influencing adenoma detection.
Results:
Of 1,004 enrolled patients, 998 were randomly allocated into CADe and conventional colonoscopy groups (497 CADe system and 501 conventional colonoscopy). The CADe group had greater polyp counts (2.2 per colonoscopy vs 1.4 per colonoscopy; p<0.001) and APC values (1.2 vs 0.8; p<0.001). The CADe group showed significantly higher PDRs (72.2% vs 54.5%;p<0.001; RR, 2.173; 95% confidence interval [CI], 1.669 to 2.828) and ADRs (52.3% vs 36.1%;p<0.001; RR, 1.940; 95% CI, 1.505 to 2.499). CADe also significantly increased the detection rate of hyperplastic polyps (p=0.007; RR, 1.474; 95% CI, 1.113 to 1.952) and increased the detection rates across all sizes and locations. In multivariable analysis, CADe use was the strongest independent predictor of adenoma detection (odds ratio, 1.914; 95% CI, 1.467 to 2.496), outweighing male sex, older age, diagnostic indication, and withdrawal time.
Conclusions
Real-time CADe-assisted colonoscopy significantly increased PDR and ADR and proved to be a strong independent predictor of adenoma detection (cris.nih.go.kr, KCT0009664).
7.A Genetically Confirmed Korean Case of CANVAS: Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome
Seung Hee LEE ; Hee-Jae JUNG ; Ji-Hee YOON ; Gu-Hwan KIM ; June-Young KOH ; Yuna LEE ; Young Seok JU ; Eun-Jae LEE ; Beom Hee LEE ; Young-Min LIM ; Hyunjin KIM
Journal of the Korean Neurological Association 2025;43(1):45-49
Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS) is a neurodegenerative disorder caused by a biallelic expansion of pentanucleotide repeats in the RFC1 gene. Previous studies have reported up to 22% of patients with late-onset ataxia harbor this pathogenic repeat expansion. Despite its relatively high prevalence, CANVAS is often underdiagnosed because the disease is not well recognized and genetic testing is not performed in clinical practice. Here, we present a patient with characteristic clinical features, confirmed by genetic testing.
8.Minocycline Susceptibility of Carbapenem-Resistant Acinetobacter baumannii Blood Isolates from a Single Center in Korea: Role of tetB in Resistance
Taeeun KIM ; Eun Hee JEON ; Yoon-Kyoung HONG ; Jiwon JUNG ; Min Jae KIM ; Heungsup SUNG ; Mi-Na KIM ; Sung-Han KIM ; Sang-Ho CHOI ; Sang-Oh LEE ; Yang Soo KIM ; Yong Pil CHONG
Infection and Chemotherapy 2025;57(1):111-118
Background:
Carbapenem-resistant Acinetobacter baumannii (CRAB) represents a devastating and growing global threat, calling for new antibiotic treatments. In Korea, the challenge of treating CRAB is compounded by high nosocomial acquisition rates and limited availability of novel antibiotics. Minocycline, a semisynthetic tetracycline derivative, has been proposed as a therapeutic option for CRAB infections. Nonsusceptibility to minocycline may occur through the efflux pump, TetB. The prevalence of tetB in A. baumannii has increased, along with higher minocycline minimum inhibitory concentrations (MICs). We aimed to evaluate minocycline susceptibility rates in clinical strains of CRAB, and the association between tetB carriage and minocycline susceptibility across different genotypes.
Materials and Methods:
Representative CRAB blood isolates were collected from Asan Medical Center, Seoul.Minocycline susceptibility was assessed using the Clinical and Laboratory Standards Institute (CLSI) breakpoint (≤4 mg/L) and the proposed pharmacokinetics (PK)/pharmacodynamics (PD) breakpoint (≤1 mg/L). Tigecycline was used as a comparator, and its susceptibility breakpoint for Enterobacterales defined by EUCAST was applied (≤0.5 mg/L).The presence of tetB was detected by PCR, and multilocus sequence typing (MLST) was performed using seven housekeeping genes.
Results:
Of the 160 CRAB blood isolates, 83.8% were susceptible to minocycline by the CLSI criteria, and 50.6% were PK-PD susceptible by the PK-PD criteria. The minocycline minimum inhibitory concentration (MIC)50 /MIC90 was 1/8 mg/L. tetB was present in 49% of isolates and was associated with a higher minocycline MIC (MIC50/90 2/8 mg/L vs. 1/2 mg/L). No clear correlation was observed between tetB positivity and tigecycline MIC. Nine MLSTs were identified, with significant differences in tetB carriage rates between the major sequence types. Notably, ST191, associated with non-tetB carriage and greater susceptibility to minocycline, declined over the study period (P=0.004), while ST451, associated with tetB carriage, increased.
Conclusion
tetB was present in 49% of CRAB isolates and was associated with higher MICs and non-susceptibility by both CLSI and PK-PD criteria. However, absence of tetB was not a reliable predictor of minocycline PK-PD susceptibility. Additionally, shifts over time towards genotypes with reduced minocycline susceptibility were observed. Further research is needed to correlate these findings with clinical outcomes and identify additional resistance mechanisms.
9.Study Protocol of Expanded Multicenter Prospective Cohort Study of Active Surveillance on Papillary Thyroid Microcarcinoma (MAeSTro-EXP)
Jae Hoon MOON ; Eun Kyung LEE ; Wonjae CHA ; Young Jun CHAI ; Sun Wook CHO ; June Young CHOI ; Sung Yong CHOI ; A Jung CHU ; Eun-Jae CHUNG ; Yul HWANGBO ; Woo-Jin JEONG ; Yuh-Seog JUNG ; Kyungsik KIM ; Min Joo KIM ; Su-jin KIM ; Woochul KIM ; Yoo Hyung KIM ; Chang Yoon LEE ; Ji Ye LEE ; Kyu Eun LEE ; Young Ki LEE ; Hunjong LIM ; Do Joon PARK ; Sue K. PARK ; Chang Hwan RYU ; Junsun RYU ; Jungirl SEOK ; Young Shin SONG ; Ka Hee YI ; Hyeong Won YU ; Eleanor WHITE ; Katerina MASTROCOSTAS ; Roderick J. CLIFTON-BLIGH ; Anthony GLOVER ; Matti L. GILD ; Ji-hoon KIM ; Young Joo PARK
Endocrinology and Metabolism 2025;40(2):236-246
Background:
Active surveillance (AS) has emerged as a viable management strategy for low-risk papillary thyroid microcarcinoma (PTMC), following pioneering trials at Kuma Hospital and the Cancer Institute Hospital in Japan. Numerous prospective cohort studies have since validated AS as a management option for low-risk PTMC, leading to its inclusion in thyroid cancer guidelines across various countries. From 2016 to 2020, the Multicenter Prospective Cohort Study of Active Surveillance on Papillary Thyroid Microcarcinoma (MAeSTro) enrolled 1,177 patients, providing comprehensive data on PTMC progression, sonographic predictors of progression, quality of life, surgical outcomes, and cost-effectiveness when comparing AS to immediate surgery. The second phase of MAeSTro (MAeSTro-EXP) expands AS to low-risk papillary thyroid carcinoma (PTC) tumors larger than 1 cm, driven by the hypothesis that overall risk assessment outweighs absolute tumor size in surgical decision-making.
Methods:
This protocol aims to address whether limiting AS to tumors smaller than 1 cm may result in unnecessary surgeries for low-risk PTCs detected during their rapid initial growth phase. By expanding the AS criteria to include tumors up to 1.5 cm, while simultaneously refining and standardizing the criteria for risk assessment and disease progression, we aim to minimize overtreatment and maintain rigorous monitoring to improve patient outcomes.
Conclusion
This study will contribute to optimizing AS guidelines and enhance our understanding of the natural course and appropriate management of low-risk PTCs. Additionally, MAeSTro-EXP involves a multinational collaboration between South Korea and Australia. This cross-country study aims to identify cultural and racial differences in the management of low-risk PTC, thereby enriching the global understanding of AS practices and their applicability across diverse populations.
10.Sphingomonas Paucimobilis-derived Extracellular Vesicles Reverse Aβ-induced Dysregulation of Neurotrophic Factors, Mitochondrial Function, and Inflammatory Factors through MeCP2-mediated Mechanism
Eun-Hwa LEE ; Hyejin KWON ; So-Young PARK ; Jin-Young PARK ; Jin-Hwan HONG ; Jae-Won PAENG ; Yoon-Keun KIM ; Pyung-Lim HAN
Experimental Neurobiology 2025;34(1):20-33
Recent studies have shown an increased abundance of Sphingomonas paucimobilis, an aerobic, Gram-negative bacterium with a distinctive cell envelope rich in glycosphingolipids, within the gut microbiome of individuals with Alzheimer Disease (AD). However, the fact that S. paucimobilis is a well-known pathogen associated with nosocomial infections presents a significant challenge in investigating whether its presence in the gut microbiome is detrimental or beneficial, particularly in the context of AD. This study examines the impact of S. paucimobilis-derived extracellular vesicles (Spa-EV) on Aβ-induced pathology in cellular and animal models of AD. Microarray analysis reveals that Spa-EV treatment modulates Aβ42-induced alterations in gene expression in both HT22 neuronal cells and BV2 microglia cells. Among the genes significantly affected by SpaEV, notable examples include Bdnf, Nt3/4, and Trkb, which are key players of neurotrophic signaling; Pgc1α, an upstream regulator of mitochondrial biogenesis; Mecp2 and Sirt1, epigenetic factors that regulate numerous gene expressions; and Il1β, Tnfα, and Nfκb-p65, which are associated with neuroinflammation. Remarkably, Spa-EV effectively reverses Aβ42-induced alteration in the expression of these genes through the upregulation of Mecp2. Furthermore, administration of Spa-EV in Tg-APP/PS1 mice restores the reduced expression of neurotrophic factors, Pgc1α, MeCP2, and Sirt1, while suppressing the increased expression of proinflammatory genes in the brain. Our results indicate that Spa-EV has the potential to reverse Aβ-induced dysregulation of gene expression in neuronal and microglial cells. These alterations encompass those essential for neurotrophic signaling and neuronal plasticity, mitochondrial function, and the regulation of inflammatory processes.

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