1.Unique TTR Variants D38A and M13dup Among Korean Patients with Hereditary Transthyretin Amyloidosis:A Retrospective Single-Center Cohort Study
Min-Seung PARK ; Jae Joon LEE ; Darae KIM ; Jin-Oh CHOI ; Seok Jin KIM ; Kihyun KIM ; Ju-Hong MIN ; Hyun-Young KIM ; Hee-Jin KIM
Annals of Laboratory Medicine 2026;46(3):309-318
Background:
Transthyretin amyloidosis, a protein-misfolding disorder characterized by systemic amyloid deposition, can be classified as wild-type transthyretin amyloidosis (ATTRwt) or hereditary transthyretin amyloidosis (ATTRv), depending on the presence of transthyretin (TTR) gene variants. We examined the genetic distribution of TTR variants in Korean patients diagnosed with ATTRv.
Methods:
We retrospectively reviewed 801 participants who underwent TTR analysis at Samsung Medical Center from 2012 to 2024. The participants were categorized into two groups: in-house probands or relatives, and externally referred probands or relatives.
Results:
Pathogenic or likely pathogenic TTR variants were detected in 36 of 165 in-house probands (21.8%), among which D38A was the most frequent variant (50.0%; 18/36), followed by M13dup and E89K (8.3% each). Among referred probands, D38A was predominant (54.5%; 12/22), followed by M13dup (22.7%; 5/22). Cardiac amyloid involvement was the most common manifestation, observed in 97.2% (35/36) of in-house probands with ATTRv, followed by peripheral nervous system (PNS; 94.4%) and autonomic nervous system (ANS; 88.9%) involvement. In contrast, ANS involvement was most prevalent among in-house relatives who underwent organ evaluation (61.5%; 24/39), followed by cardiac (52.1%; 25/48) and PNS (48.7%; 19/39) involvement. Five of the eight in-house relatives harboring M13dup (62.5%) showed organ involvement, primarily in the ANS, supporting the pathogenicity of this variant.
Conclusions
This study provides the largest single-institution dataset of Korean patients with ATTRv, incorporating systematic organ assessments. The predominance of the unique TTR variants D38A and M13dup delineates a distinct genetic landscape that may facilitate accurate and timely diagnosis of ATTRv in the Korean population.
2.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.
3.Combined Transarterial Chemoembolization and External Beam Radiotherapy for Identifying Surgical Candidates for Hepatocellular Carcinoma with Macroscopic Vascular Invasion: A Propensity Score–Weighted Analysis
Sumin LEE ; Jinhong JUNG ; Jonggi CHOI ; So Yeon KIM ; Jin Hyoung KIM ; Danbi LEE ; Ju Hyun SHIM ; Kang Mo KIM ; Young-Suk LIM ; Han Chu LEE ; Gi-Won SONG ; Jin-hong PARK ; Sang Min YOON
Cancer Research and Treatment 2026;58(1):275-283
Purpose:
This study aimed to evaluate the role of hepatic resection in patients with objective responses after combined transarterial chemoembolization (TACE) and radiotherapy (RT) for hepatocellular carcinoma (HCC) with macroscopic vascular invasion (MVI).
Materials and Methods:
We retrospectively reviewed the patients treated with combined TACE and RT for HCC with MVI between 2010 and 2015. Some of the patients with objective responses underwent hepatic resection or liver transplantation; to investigate the impact of surgery, patients with objective responses who did not undergo surgery were selected as the control group. Survival outcomes were compared using a propensity score–based stabilized inverse probability of treatment weighting method.
Results:
Out of the 170 patients with objective responses after combined TACE and RT, 41 patients underwent surgery, including eight liver transplantations. The unweighted surgery group was younger and had a higher proportion of solitary tumors and unilateral vascular involvement. After adjustment, the 3-year overall survival (OS) rates were 61.0% and 28.6% in the surgery and non-surgery groups, respectively. The most important prognostic factor for OS was surgery (adjusted Cox hazard ratio [HR], 0.28; 95% confidence interval [CI], 0.17 to 0.46; p < 0.001). Complete response after TACE and RT (vs. partial response) was also a significant prognostic factor for OS (adjusted HR, 0.41; 95% CI, 0.27 to 0.61; p < 0.001). There was no surgical mortality. Four patients (9.8%) required additional surgery due to bleeding or graft failure.
Conclusion
Hepatic resection was significantly associated with improved OS in patients who showed objective responses after receiving combined TACE and RT for HCC with MVI.
4.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.
5.Risk Factors of Complications in Patients With Persistent or Long-Standing Persistent Atrial Fibrillation/Atrial Flutter Who Underwent Electrical Cardioversion:A Multicenter Cardioversion Registry
Ki-Hun KIM ; Junbeom PARK ; Donghwan KU ; Jino PARK ; Seunghwan KIM ; Dong-Kie KIM ; Doo-Il KIM ; Sun Gyu CHOI ; Pil-Sung YANG ; Ju Youn KIM ; Jaemin SHIM ; Jinhee AHN ; Sung Ho LEE ; Sung Il IM ; Hong Euy LIM
Journal of Korean Medical Science 2026;41(1):e19-
Background:
Identifying the risks related to the complications of electrical cardioversion (ECV) can alert the determinaton of rhythm control in patients with atrial fibrillation (AF).
Methods:
We retrospectively reviewed 1,058 patients who underwent ECV for persistent or long-standing persistent AF/atrial flutter (AFL) from multiple centers. Patients were classified into the no-complication (1,023 patients) and complication (35 patients) groups based on the following major complications: stroke and/or systemic embolism (SSE), myocardial infarction, major bleeding, implantation of cardiac implantable electronic devices, ventricular tachycardia/fibrillation, and death at 1 year follow-up after ECV.
Results:
Compared with the no-complication group, the complication group exhibited a higher proportion of female patients (37% vs. 22%), as well as a higher proportion of patients with older age (67 ± 11 vs. 61 ± 10 years), diabetes mellitus (DM) (49% vs. 24%), heart failure (HF) (49% vs. 30%), SSE (23% vs. 9%), high CHA 2 DS 2 -VASc (CV) score (3.6 ± 1.8 vs.2.2 ± 1.4), low left ventricular ejection fraction (LVEF) (50 ± 16% vs. 58 ± 21%), and high left atrial volume index (LAVI) (51 ± 26 vs. 40 ± 20 mL/m 2 ). Class I and III antiarrhythmics were less prescribed in the complication group than in the no-complication group (57% vs.76%). Univariate analysis for complications revealed age (≥ 65 years), female sex, DM, HF, SSE, LVEF (< 50%), LAVI (≥ 40 mL/m 2 ), CV score (≥ 3), bradycardia on Holter (< 60/min), and no antiarrhythmics as risk factors. Among these, multivariate analysis revealed clinical significance of female sex and SSE.
Conclusion
Female sex and a history of SSE were the most important risk factors of complications in patients with persistent or long-standing persistent AF/AFL who underwent ECV.
6.Environmental disease monitoring by regional Environmental Health Centers in Korea: a narrative review
Myung-Sook PARK ; Hwan-Cheol KIM ; Woo Jin KIM ; Yun-Chul HONG ; Won-Jun CHOI ; Seock-Yeon HWANG ; Jiho LEE ; Young-Seoub HONG ; Yong-Dae KIM ; Seong-Chul HONG ; Joo Hyun SUNG ; Inchul JEONG ; Kwan LEE ; Won-Ju PARK ; Hyun-Joo BAE ; Seong-Yong YOON ; Cheolmin LEE ; Kyoung Sook JEONG ; Sanghyuk BAE ; Jinhee CHOI ; Ho-Hyun KIM
The Ewha Medical Journal 2025;48(1):e3-
This study explores the development, roles, and key initiatives of the Regional Environmental Health Centers in Korea, detailing their evolution through four distinct phases and their impact on environmental health policy and local governance. It chronicles the establishment and transformation of these centers from their inception in May 2007, through four developmental stages. Originally named Environmental Disease Research Centers, they were subsequently renamed Environmental Health Centers following legislative changes. The analysis includes the expansion in the number of centers, the transfer of responsibilities to local governments, and the launch of significant projects such as the Korean Children’s Environmental Health Study (Ko-CHENS ). During the initial phase (May 2007–February 2009), the 10 centers concentrated on research-driven activities, shifting from a media-centered to a receptor-centered approach. In the second phase, prompted by the enactment of the Environmental Health Act, six additional centers were established, broadening their scope to address national environmental health issues. The third phase introduced Ko-CHENS, a 20-year national cohort project designed to influence environmental health policy by integrating research findings into policy frameworks. The fourth phase marked a decentralization of authority, empowering local governments and redefining the centers' roles to focus on regional environmental health challenges. The Regional Environmental Health Centers have significantly evolved and now play a crucial role in addressing local environmental health issues and supporting local government policies. Their capacity to adapt and respond to region-specific challenges is essential for the effective implementation of environmental health policies, reflecting geographical, socioeconomic, and demographic differences.
7.Radiofrequency Ablation for Recurrent Thyroid Cancers:2025 Korean Society of Thyroid Radiology Guideline
Eun Ju HA ; Min Kyoung LEE ; Jung Hwan BAEK ; Hyun Kyung LIM ; Hye Shin AHN ; Seon Mi BAEK ; Yoon Jung CHOI ; Sae Rom CHUNG ; Ji-hoon KIM ; Jae Ho SHIN ; Ji Ye LEE ; Min Ji HONG ; Hyun Jin KIM ; Leehi JOO ; Soo Yeon HAHN ; So Lyung JUNG ; Chang Yoon LEE ; Jeong Hyun LEE ; Young Hen LEE ; Jeong Seon PARK ; Jung Hee SHIN ; Jin Yong SUNG ; Miyoung CHOI ; Dong Gyu NA ;
Korean Journal of Radiology 2025;26(1):10-28
Radiofrequency ablation (RFA) is a minimally invasive treatment modality used as an alternative to surgery in patients with benign thyroid nodules, recurrent thyroid cancers (RTCs), and primary thyroid microcarcinomas. The Korean Society of Thyroid Radiology (KSThR) initially developed recommendations for the optimal use of RFA for thyroid tumors in 2009 and revised them in 2012 and 2017. As new meaningful evidence has accumulated since 2017 and in response to a growing global interest in the use of RFA for treating malignant thyroid lesions, the task force committee members of the KSThR decided to update the guidelines on the use of RFA for the management of RTCs based on a comprehensive analysis of current literature and expert consensus.
8.Mortality and Risk Factors for Emphysematous Pyelonephritis in Korea: A Multicenter Retrospective Cohort Study
Seung-Kwon CHOI ; Jeong Woo LEE ; Seung Il JUNG ; Eu Chang HWANG ; Joongwon CHOI ; Woong Bin KIM ; Jung Sik HUH ; Jin Bong CHOI ; Yeonjoo KIM ; Jae Min CHUNG ; Ju-Hyun SHIN ; Jae Hung JUNG ; Hong CHUNG ; Sangrak BAE ; Tae-Hyoung KIM
Urogenital Tract Infection 2025;20(1):34-41
Purpose:
Emphysematous pyelonephritis (EPN) is a life-threatening disease requiring immediate treatment. This multicenter retrospective cohort study aimed to analyze the mortality rate and risk factors associated with EPN.
Materials and Methods:
Between January 2011 and February 2021, 217 patients diagnosed with EPN via computed tomography who visited 14 teaching hospitals were retrospectively analyzed. Clinical data, including age, sex, comorbidities, Huang and Tseng classification, hydronephrosis, acute kidney injury, blood and urine tests, surgical interventions, percutaneous drainage, and conservative treatments, were compared between the survival and death groups. Risk factors for mortality due to EPN were analyzed using univariate and multivariate methods.
Results:
The mean age of survivors and deceased patients was 67.8 and 69.0 years, respectively (p=0.136). The sex distribution (male/female) was 48/146 and 8/15, respectively (p=0.298). Of the 217 patients, 23 died, resulting in a mortality rate of 10.6%. In univariate analysis, the Huang and Tseng classification (p=0.004), platelet count (p=0.005), and acute kidney injury (p=0.007) were significantly associated with mortality from EPN. In multivariate analysis, only the Huang and Tseng classification (p=0.029) was identified as a risk factor. Mortality rates according to the Huang and Tseng classification were as follows: class I (5.88%), class II (7.50%), class IIIa (14.28%), class IIIb (25.00%), and class IV (23.07%).
Conclusions
EPN is associated with a high mortality rate. Among various clinical factors, the Huang and Tseng classification was the most significant indicator for predicting mortality.
9.Mortality and Risk Factors for Emphysematous Pyelonephritis in Korea: A Multicenter Retrospective Cohort Study
Seung-Kwon CHOI ; Jeong Woo LEE ; Seung Il JUNG ; Eu Chang HWANG ; Joongwon CHOI ; Woong Bin KIM ; Jung Sik HUH ; Jin Bong CHOI ; Yeonjoo KIM ; Jae Min CHUNG ; Ju-Hyun SHIN ; Jae Hung JUNG ; Hong CHUNG ; Sangrak BAE ; Tae-Hyoung KIM
Urogenital Tract Infection 2025;20(1):34-41
Purpose:
Emphysematous pyelonephritis (EPN) is a life-threatening disease requiring immediate treatment. This multicenter retrospective cohort study aimed to analyze the mortality rate and risk factors associated with EPN.
Materials and Methods:
Between January 2011 and February 2021, 217 patients diagnosed with EPN via computed tomography who visited 14 teaching hospitals were retrospectively analyzed. Clinical data, including age, sex, comorbidities, Huang and Tseng classification, hydronephrosis, acute kidney injury, blood and urine tests, surgical interventions, percutaneous drainage, and conservative treatments, were compared between the survival and death groups. Risk factors for mortality due to EPN were analyzed using univariate and multivariate methods.
Results:
The mean age of survivors and deceased patients was 67.8 and 69.0 years, respectively (p=0.136). The sex distribution (male/female) was 48/146 and 8/15, respectively (p=0.298). Of the 217 patients, 23 died, resulting in a mortality rate of 10.6%. In univariate analysis, the Huang and Tseng classification (p=0.004), platelet count (p=0.005), and acute kidney injury (p=0.007) were significantly associated with mortality from EPN. In multivariate analysis, only the Huang and Tseng classification (p=0.029) was identified as a risk factor. Mortality rates according to the Huang and Tseng classification were as follows: class I (5.88%), class II (7.50%), class IIIa (14.28%), class IIIb (25.00%), and class IV (23.07%).
Conclusions
EPN is associated with a high mortality rate. Among various clinical factors, the Huang and Tseng classification was the most significant indicator for predicting mortality.
10.The 2024 Korean Enhanced Recovery After Surgery (ERAS) guidelines for colorectal cancer: a secondary publication
Kil-yong LEE ; Soo Young LEE ; Miyoung CHOI ; Moonjin KIM ; Ji Hong KIM ; Ju Myung SONG ; Seung Yoon YANG ; In Jun YANG ; Moon Suk CHOI ; Seung Rim HAN ; Eon Chul HAN ; Sang Hyun HONG ; Do Joong PARK ; Sang-Jae PARK ;
Annals of Coloproctology 2025;41(1):3-26
The Korean Enhanced Recovery After Surgery (ERAS) Committee within the Korean Society of Surgical Metabolism and Nutrition was established to develop ERAS guidelines tailored to the Korean context. This guideline focuses on creating the most current evidence-based practice guidelines for ERAS purposes, based on systematic reviews. All key questions targeted randomized controlled trials exclusively, and if fewer than 2 were available, studies employing propensity score matching were also included. Recommendations for each key question were marked with strength of recommendation and level of evidence following internal and external review processes by the committee.

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