1.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.
2.A Real-World, Prospective, Observational Study of Rivaroxaban on Prevention of Stroke and Non-Central Nervous Systemic Embolism in Renally Impaired Korean Patients With Non-Valvular Atrial Fibrillation:XARENAL
Il-Young OH ; Chang Hoon LEE ; Eue-Keun CHOI ; Hong Euy LIM ; Yong-Seog OH ; Jong-Il CHOI ; Min-Soo AHN ; Ju Youn KIM ; Nam-Ho KIM ; Namsik YOON ; Martin SANDMANN ; Kee-Joon CHOI
Korean Circulation Journal 2025;55(2):121-131
Background and Objectives:
Several real-world studies have been done in patients with nonvalvular atrial fibrillation (NVAF); however, information on its safety profile in patients with renal impairment is limited. XARENAL, a real-world study, aimed to prospectively investigate the safety profile of rivaroxaban in patients with NVAF with renal impairment (creatinine clearance [CrCl], 15–49 mL/min).
Methods:
XARENAL is an observational single-arm cohort study in renal impairment NVAF patients. Patients were followed up approximately every 3 months for 1 year or until 30 days following early discontinuation. The primary endpoint was major bleeding events. All adverse events, symptomatic thromboembolic events, treatment duration, and renal function change from baseline were the secondary endpoints.
Results:
XARENAL included 888 patients from 29 study sites. Overall, 713 (80.3%) had moderate renal impairment (CrCl, 30–49 mL/min), and 175 (19.7%) had severe renal impairment (CrCl, 15–29 mL/min) with a mean estimated glomerular filtration rate (eGFR) of 45.2±13.0 mL/min/1.73 m 2 . The mean risk scores were 3.3±1.4 and 1.7±0.9 for CHA 2 DS 2 -VASc score and HAS-BLED score, respectively. An incidence proportion of 5.6% (6.2 events per 100 patient-years) developed major bleeding; however, fatal bleeding occurred in 0.5% (0.5 events per 100 patient-years). The mean change in the eGFR was 2.22±26.47 mL/min/1.73 m 2 per year.
Conclusions
XARENAL observed no meaningful differences in major bleeding events from other previous findings as well as renal function changes in rivaroxaban-treated NVAF patients with renal impairment, which is considered to be acceptable in clinical practice.
3.The Korean Organ Transplant Registry (KOTRY): Third Official Adult Heart Transplant Report
Hyo-In CHOI ; Sang Eun LEE ; Junho HYUN ; Darae KIM ; Dong-Ju CHOI ; Eun-Seok JEON ; Hae-Young LEE ; Hyun-Jai CHO ; Hyungseop KIM ; In-Cheol KIM ; Jaewon OH ; Minjae YOON ; Jin Joo PARK ; Jin-Oh CHOI ; Min Ho JU ; Seok-Min KANG ; Soo Yong LEE ; Sung-Ho JUNG ; Jae-Joong KIM
Korean Circulation Journal 2025;55(2):79-96
Background and Objectives:
The Korean Organ Transplant Registry (KOTRY) provided data for this third official report on adult heart transplantation (HT), including information from 709 recipients.
Methods:
Data from HTs performed at seven major centers in Korea between March 2014 and December 2020 were analyzed, focusing on immunosuppression, acute rejection, cardiac allograft vasculopathy (CAV), post-transplant survival, and mechanical circulatory support (MCS) usage.
Results:
The median ages of the recipients and donors were 56.0 and 43.0 years, respectively.Cardiomyopathy and ischemic heart disease were the most common preceding conditions for HT. A significant portion of patients underwent HT at waiting list status 1 and 0. In the multivariate analysis, a predicted heart mass mismatch was associated with a higher risk of 1-year mortality. Patients over 70 years old had a significantly increased risk of 6-year mortality. The risk of CAV was higher for male donors and donors older than 45 years. Acute rejection was more likely in patients with panel reactive antibody levels above 80%, while statin use was associated with a reduced risk. The employment of left ventricular assist device as a bridge to transplantation increased from 2.17% to 22.4%. Pre-transplant extra-corporeal membrane oxygenation was associated with worse post-transplant survival.
Conclusions
In this third KOTRY report, we analyzed changes in the characteristics of adult HT recipients and donors and their impact on post-transplant outcomes. The most notable discovery was the increased use of MCS before HT and their impact on post-transplant outcomes.
4.The Effects of Nicotine on Re-endothelialization, Inflammation, and Neoatherosclerosis After Drug-Eluting Stent Implantation in a Porcine Model
Seok OH ; Ju Han KIM ; Saleem AHMAD ; Yu Jeong JIN ; Mi Hyang NA ; Munki KIM ; Jeong Ha KIM ; Dae Sung PARK ; Dae Young HYUN ; Kyung Hoon CHO ; Min Chul KIM ; Doo Sun SIM ; Young Joon HONG ; Seung-won LEE ; Youngkeun AHN ; Myung Ho JEONG
Korean Circulation Journal 2025;55(1):50-64
Background and Objectives:
Cigarette smoking is a major risk factor for atherosclerosis.Nicotine, a crucial constituent of tobacco, contributes to atherosclerosis development and progression. However, evidence of the association between nicotine and neointima formation is limited. We aimed to evaluate whether nicotine enhances neointimal hyperplasia in the native epicardial coronary arteries of pigs after percutaneous coronary intervention (PCI) with drug-eluting stents (DES).
Methods:
After coronary angiography (CAG) and quantitative coronary angiography (QCA), we implanted 20 DES into 20 pigs allocated to 2 groups: no-nicotine (n=10) and nicotine (n=10) groups. Post-PCI CAG and QCA were performed immediately. Follow-up CAG, QCA, optical coherence tomography (OCT), and histopathological analyses were performed 2 months post-PCI.
Results:
Despite intergroup similarities in the baseline QCA findings, OCT analysis showed that the nicotine group had a smaller mean stent and lumen areas, a larger mean neointimal area, greater percent area stenosis, and higher peri-strut fibrin and inflammation scores than the no-nicotine group. In immunofluorescence analysis, the nicotine group displayed higher expression of CD68 and α-smooth muscle actin but lower CD31 expression than the no-nicotine group.
Conclusions
Nicotine inhibited re-endothelialization and promoted inflammation and NIH after PCI with DES in a porcine model.
5.Association between Breakfast Consumption Frequency and Chronic Inflammation in Korean Adult Males: Korea National Health and Nutrition Examination Survey 2016–2018
Eun Ji HAN ; Eun Ju PARK ; Sae Rom LEE ; Sang Yeoup LEE ; Young Hye CHO ; Young In LEE ; Jung In CHOI ; Ryuk Jun KWON ; Soo Min SON ; Yun Jin KIM ; Jeong Gyu LEE ; Yu Hyeon YI ; Young Jin TAK ; Seung Hun LEE ; Gyu Lee KIM ; Young Jin RA
Korean Journal of Family Medicine 2025;46(2):92-97
Background:
Skipping breakfast is associated with an increased risk of chronic inflammatory diseases. This study aimed to examine the association between breakfast-eating habits and inflammation, using high-sensitivity C-reactive protein (hs-CRP) as a marker.
Methods:
A total of 4,000 Korean adult males with no history of myocardial infarction, angina, stroke, diabetes, rheumatoid arthritis, cancer, or current smoking were included. Data from the 2016–2018 Korea National Health and Nutrition Examination Survey were used for analysis. The frequency of breakfast consumption was assessed through a questionnaire item in the dietary survey section asking participants about their weekly breakfast consumption routines over the past year. Participants were categorized into two groups, namely “0–2 breakfasts per week” and “3–7 breakfasts per week”; hs-CRP concentrations were measured through blood tests.
Results:
Comparing between the “infrequent breakfast consumption (0–2 breakfasts per week)” and “frequent breakfast consumption (3–7 breakfasts per week)” groups, the mean hs-CRP was found to be significantly higher in the “infrequent breakfast consumption” group, even after adjusting for age, body mass index, physical activity, alcohol consumption, systolic blood pressure, blood pressure medication, fasting blood glucose, and triglycerides (mean hs-CRP: frequent breakfast consumption, 1.36±0.09 mg/L; infrequent breakfast consumption, 1.17±0.05 mg/L; P-value=0.036).
Conclusion
Less frequent breakfast consumption was associated with elevated hs-CRP levels. Further large-scale studies incorporating adjusted measures of daily eating patterns as well as food quality and quantity are required for a deeper understanding of the role of breakfast in the primary prevention of chronic inflammatory diseases.
6.Reinjection in Patients with Intraocular Inflammation Development after Intravitreal Brolucizumab Injection
Myung Ae KIM ; Soon Il CHOI ; Jong Min KIM ; Hyun Sub OH ; Yong Sung YOU ; Won Ki LEE ; Soon Hyun KIM ; Oh Woong KWON ; Ju Young KIM
Korean Journal of Ophthalmology 2025;39(3):213-221
Purpose:
To investigate the outcomes of brolucizumab reinjection after intraocular inflammation (IOI) development.
Methods:
This retrospective study analyzed patients with brolucizumab injections from April 2021 to January 2024. Patients who developed IOI after brolucizumab were included and categorized into subgroups depending on reinjection, discontinuation, and further IOI development.
Results:
A total of 472 eyes of 432 patients received brolucizumab injections. Thirty-eight cases developed IOI at least once, and 25 continued brolucizumab. Sixteen cases had no more IOI events, and nine experienced a second or more IOI events. Among the nine cases, three maintained brolucizumab injections despite IOI recurrence. The incidence of IOI was 8.1% based on the number of eyes (38 of 472 eyes) and 2.0% based on the number of brolucizumab injections (50 of 2,468 injections). The incidence of occlusive retinal vasculitis was 0.2% (1 of 472 eyes). The recurrence rate was 23.7% (9 of 38 eyes). The average number of injections between the first brolucizumab injection and the injection date on which IOI first developed was 2.15 times in the no-reinjection group, 3.44 times in the no-IOI-recurrence group, and 2.0 times in the second-IOI-episode group. Time to IOI occurrence in cases with first IOI episode was 18.60 ± 16.73 days, with 15 cases developing IOI within 1 week.
Conclusions
This study elucidates the real-world incidence of brolucizumab associated IOIs, with a description of information related to reinjections after the IOI episodes. A comprehensive understanding of brolucizumab reinjection is essential for its optimal utilization.
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.Diagnosing Complete Response to Preoperative Chemoradiation in Esophageal Cancer Using Dynamic Contrast-Enhanced MRI Response Criteria
Yura AHN ; Jooae CHOE ; Hyun Joo LEE ; Sook Ryun PARK ; Jong-Hoon KIM ; Ho June SONG ; Min-Ju KIM ; Yong-Hee KIM
Korean Journal of Radiology 2025;26(3):269-280
Objective:
To assess the performance of novel qualitative diagnostic criteria using dynamic contrast-enhanced (DCE) magnetic resonance imaging (MRI) to identify the pathologic complete response (pCR) of primary tumors in esophageal cancer after neoadjuvant chemoradiation (nCRT).
Materials and Methods:
Patients who underwent nCRT, subsequent MRI, positron emission tomography/computed tomography (PET/CT), endoscopy, or esophagectomy for esophageal cancer between October 2021 and October 2023 were retrospectively analyzed. The DCE-MRI response of primary tumors was interpreted using five grades by thoracic radiologists as follows: G1 (compatible with CR), G2 (probable CR), G3 (probable partial response [PR]), G4 (compatible with PR), and G5 (stable or progressive disease). The performances of MRI, PET/CT, endoscopy, and their combinations in diagnosing pCR in primary tumors were calculated.
Results:
A total of 52 patients (male:female, 46:6; age, 61.2 ± 8.0 years) were included. Surgical specimens revealed pCR (ypT0) in 34 patients. G1 as the MRI criterion for pCR of primary tumors yielded a positive predictive value (PPV), specificity of 100% (18/18), and low sensitivity (23.5% [8/34]). Combining G1 and G2 as the MRI criteria increased the sensitivity to 73.5% (25/34), with a specificity of 88.9% (16/18), accuracy of 78.8% (41/52), and PPV of 92.6% (25/27). Adding the DCEMRI results (G1-2) significantly improved accuracy for both PET/CT (from 65.4% [34/52] to 80.8% [42/52], P = 0.03) and endoscopy (from 55.8% [29/52] to 76.9% [40/52], P = 0.005), with increase in sensitivity (from 55.9% [19/34] to 82.4% [28/34] for PET/CT-based evaluation [P = 0.008] and from 47.1% [16/34] to 82.4% [28/34] for endoscopy-based evaluation [P = 0.001]).
Conclusion
DCE-MRI-based grading shows high diagnostic performance for identifying pCR in primary tumors, particularly in terms of PPV and specificity, and enhances response evaluation when combined with PET/CT and endoscopy.
9.The Role of Knowledge and Personal Experience in Shaping Stigma Associated With COVID-19 and Mental Illness
Ji-Min YOO ; Ju-Wan KIM ; Seon-Young KIM ; Seunghyong RYU ; Ju-Yeon LEE ; Sook-In JUNG ; Jae-Min KIM ; Sung-Wan KIM
Psychiatry Investigation 2025;22(1):110-116
Objective:
Stigma influences perceptions of mental illness and novel diseases like coronavirus disease-2019 (COVID-19), often impeding healthcare access despite advancements in medical treatment. This study compares the stigma associated with COVID-19 and mental illness to identify factors that could help reduce stigma.
Methods:
An online survey was conducted in May 2023 among 1,500 participants aged 19 to 65 in South Korea, using a panel from Embrain, an online survey service. The survey assessed stigma and distress related to COVID-19 and mental illness using a validated questionnaire. It collected demographic and clinical data, evaluated COVID-19-related stigma, fear, and knowledge, and measured prejudice and attitudes toward psychiatric treatment. Personality traits were assessed using the Big Five Inventory (BFI)-10. Factors significantly associated with stigma scores were entered into linear regression analysis.
Results:
COVID-19-related stigma scores were significantly negatively correlated with knowledge of COVID-19 and positively correlated with fear of infection and age. Individuals with a history of COVID-19 infection had significantly lower scores on COVID-19-related stigma. Similarly, mental illness stigma was negatively correlated with knowledge of psychiatric treatment and positively correlated with age, as well as conscientiousness and neuroticism in the BFI. Personal experience with individuals with mental illness was associated with significantly lower stigma scores.
Conclusion
This study suggests that the mechanism-making stigma was similar in cases of traditional mental illness and a novel infectious disease. Both cognitive and experiential factors influence stigma. Educating the public about the disease and enabling interactions with affected individuals emerge as effective strategies for stigma reduction.
10.No difference in inflammatory mediator expression between mast cell-rich and mast cell-poor rosacea lesions in Korean patients: a comparative study
Jin Ju LEE ; Bo Ram KWON ; Min Young LEE ; Ji Yeon BYUN ; Joo Young ROH ; Hae Young CHOI ; You Won CHOI
The Ewha Medical Journal 2025;48(1):e78-

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