1.Impact of RNF213 Polymorphism in Isolated Intracranial Arterial Steno-Occlusive Disease
Dong Young JEONG ; Bum Joon KIM ; Jae Han BAE ; Chulhong KIM ; Sun U KWON
Journal of Clinical Neurology 2025;21(3):173-181
Background:
and Purpose To determine whether the RNF213 p.R4810K mutation modifies the number of moyamoya disease manifestations and recurrent strokes in isolated intracranial arterial steno-occlusive disease (ICAD).
Methods:
This retrospective case–control study analyzed patients who visited the Asan Medical Center with steno-occlusive lesions in the M1 segment of the middle cerebral artery and terminal internal carotid artery, and underwent RNF213 genetic testing for screening moyamoya disease between January 2010 and November 2022. Patients with supportive findings of moyamoya disease or moderate-to-severe stenosis in the extracranial arteries were excluded.After matching antiplatelet drugs, the presentation of moyamoya disease and stroke recurrence were analyzed using chi-squared analysis and Kaplan–Meier survival curve analysis.
Results:
The 1,567 patients who underwent evaluations of RNF213 polymorphisms included 753 with ICAD, among whom females predominated (n=452, 60.0%) and 289 (38.4%) had an RNF213 mutation. The follow-up period was 2.47±3.51 years (mean±standard deviation; median=1.00 year, interquartile range=0–4 years). The risk of progression to moyamoya disease was higher in the RNF213-related-vasculopathy group than the RNF213-negative stenosis group (n=27 [9.3%] versus n=6 [1.3%], p<0.01), as were the risks of ischemic stroke (n=13 [4.5%] versus n=7 [1.5%], p=0.01) and hemorrhagic stroke (n=5 [1.7%] versus n=1 [0.2%], p=0.02, respectively). Furthermore, the presence of an RNF213 mutation was significantly associated with the risk of stroke recurrence (odds ratio=2.34, 95% confidence interval=1.44–3.80, p< 0.01).
Conclusions
Evaluations of RNF213 polymorphisms may help to identify patients with isolated ICAD at a high risk of progression to moyamoya disease and stroke.
2.Impact of RNF213 Polymorphism in Isolated Intracranial Arterial Steno-Occlusive Disease
Dong Young JEONG ; Bum Joon KIM ; Jae Han BAE ; Chulhong KIM ; Sun U KWON
Journal of Clinical Neurology 2025;21(3):173-181
Background:
and Purpose To determine whether the RNF213 p.R4810K mutation modifies the number of moyamoya disease manifestations and recurrent strokes in isolated intracranial arterial steno-occlusive disease (ICAD).
Methods:
This retrospective case–control study analyzed patients who visited the Asan Medical Center with steno-occlusive lesions in the M1 segment of the middle cerebral artery and terminal internal carotid artery, and underwent RNF213 genetic testing for screening moyamoya disease between January 2010 and November 2022. Patients with supportive findings of moyamoya disease or moderate-to-severe stenosis in the extracranial arteries were excluded.After matching antiplatelet drugs, the presentation of moyamoya disease and stroke recurrence were analyzed using chi-squared analysis and Kaplan–Meier survival curve analysis.
Results:
The 1,567 patients who underwent evaluations of RNF213 polymorphisms included 753 with ICAD, among whom females predominated (n=452, 60.0%) and 289 (38.4%) had an RNF213 mutation. The follow-up period was 2.47±3.51 years (mean±standard deviation; median=1.00 year, interquartile range=0–4 years). The risk of progression to moyamoya disease was higher in the RNF213-related-vasculopathy group than the RNF213-negative stenosis group (n=27 [9.3%] versus n=6 [1.3%], p<0.01), as were the risks of ischemic stroke (n=13 [4.5%] versus n=7 [1.5%], p=0.01) and hemorrhagic stroke (n=5 [1.7%] versus n=1 [0.2%], p=0.02, respectively). Furthermore, the presence of an RNF213 mutation was significantly associated with the risk of stroke recurrence (odds ratio=2.34, 95% confidence interval=1.44–3.80, p< 0.01).
Conclusions
Evaluations of RNF213 polymorphisms may help to identify patients with isolated ICAD at a high risk of progression to moyamoya disease and stroke.
3.PDK4 expression and tumor aggressiveness in prostate cancer
Eun Hye LEE ; Yun-Sok HA ; Bo Hyun YOON ; Minji JEON ; Dong Jin PARK ; Jiyeon KIM ; Jun-Koo KANG ; Jae-Wook CHUNG ; Bum Soo KIM ; Seock Hwan CHOI ; Hyun Tae KIM ; Tae-Hwan KIM ; Eun Sang YOO ; Tae Gyun KWON
Investigative and Clinical Urology 2025;66(3):227-235
Purpose:
Prostate cancer ranks as the second most common cancer in men globally, representing a significant cause of cancer-related mortality. Metastasis, the spread of cancer cells from the primary site to distant organs, remains a major challenge in managing prostate cancer. Pyruvate dehydrogenase kinase 4 (PDK4) is implicated in the regulation of aerobic glycolysis, emerging as a potential player in various cancers. However, its role in prostate cancer remains unclear. This study aims to analyze PDK4 expression in prostate cancer cells and human samples, and to explore the gene's clinical significance.
Materials and Methods:
PDK4 expression was detected in cell lines and human tissue samples. Migration ability was analyzed using Matrigel-coated invasion chambers. Human samples were obtained from the Kyungpook National University Chilgok Hospital.
Results:
PDK4 expression was elevated in prostate cancer cell lines compared to normal prostate cells, with particularly high levels in DU145 and LnCap cell lines. PDK4 knockdown in these cell lines suppressed their invasion ability, indicating a potential role of PDK4 in prostate cancer metastasis. Furthermore, our results revealed alterations in epithelial-mesenchymal transition markers and downstream signaling molecules following PDK4 suppression, suggesting its involvement in the modulation of invasion-related pathways. Furthermore, PDK4 expression was increased in prostate cancer tissues, especially in castration-resistant prostate cancer, compared to normal prostate tissues, with PSA and PDK4 expression showing a significantly positive correlation.
Conclusions
PDK4 expression in prostate cancer is associated with tumor invasion and castration status. Further validation is needed to demonstrate its effectiveness as a therapeutic target.
4.Impact of RNF213 Polymorphism in Isolated Intracranial Arterial Steno-Occlusive Disease
Dong Young JEONG ; Bum Joon KIM ; Jae Han BAE ; Chulhong KIM ; Sun U KWON
Journal of Clinical Neurology 2025;21(3):173-181
Background:
and Purpose To determine whether the RNF213 p.R4810K mutation modifies the number of moyamoya disease manifestations and recurrent strokes in isolated intracranial arterial steno-occlusive disease (ICAD).
Methods:
This retrospective case–control study analyzed patients who visited the Asan Medical Center with steno-occlusive lesions in the M1 segment of the middle cerebral artery and terminal internal carotid artery, and underwent RNF213 genetic testing for screening moyamoya disease between January 2010 and November 2022. Patients with supportive findings of moyamoya disease or moderate-to-severe stenosis in the extracranial arteries were excluded.After matching antiplatelet drugs, the presentation of moyamoya disease and stroke recurrence were analyzed using chi-squared analysis and Kaplan–Meier survival curve analysis.
Results:
The 1,567 patients who underwent evaluations of RNF213 polymorphisms included 753 with ICAD, among whom females predominated (n=452, 60.0%) and 289 (38.4%) had an RNF213 mutation. The follow-up period was 2.47±3.51 years (mean±standard deviation; median=1.00 year, interquartile range=0–4 years). The risk of progression to moyamoya disease was higher in the RNF213-related-vasculopathy group than the RNF213-negative stenosis group (n=27 [9.3%] versus n=6 [1.3%], p<0.01), as were the risks of ischemic stroke (n=13 [4.5%] versus n=7 [1.5%], p=0.01) and hemorrhagic stroke (n=5 [1.7%] versus n=1 [0.2%], p=0.02, respectively). Furthermore, the presence of an RNF213 mutation was significantly associated with the risk of stroke recurrence (odds ratio=2.34, 95% confidence interval=1.44–3.80, p< 0.01).
Conclusions
Evaluations of RNF213 polymorphisms may help to identify patients with isolated ICAD at a high risk of progression to moyamoya disease and stroke.
5.Association Between Vertebral Arterial Tortuosity and Aneurysm Growth in Intracranial Vertebral Artery Dissection
Jae Young PARK ; Sang Hee HA ; Soo JEONG ; Jun Young CHANG ; Dong-Wha KANG ; Sun U. KWON ; Bum Joon KIM
Journal of Clinical Neurology 2024;20(6):617-623
Background:
and Purpose An intracranial vertebral artery dissecting aneurysm (iVADA) increases the risk of future subarachnoid hemorrhage, which is a severe complication with high rebleeding rates and poor outcomes. Identifying potential risk factors associated with iVADA growth is crucial for their effective management.
Methods:
This observational study was carried out at a single center and included patients who had been diagnosed with iVADA based on neuroimaging findings. We divided the patients into two groups: with and without iVADA growth. Growth was defined as any enlargement of a dilated region or a morphological change in follow-up imaging. We measured the vertebral artery tortuosity index (VTI) in the contralateral vertebral artery (VA), defined as its actual length divided by its straight length. We investigated the factors associated with iVADA growth.
Results:
This study included 124 patients. The median follow-up period was 7 months. We observed iVADA growth in 54 patients (43.5%), who were more likely to be current smokers (33.3% vs. 14.3%, p=0.012) and have a higher VTI (1.14±0.11 [mean±standard deviation] vs.1.06±0.12, p=0.035) compared with those without iVADA growth. A multivariate analysis revealed that the VTI (adjusted odds ratio=28.490, 95% confidence interval=1.025–792.046, p=0.048) was independently associated with iVADA growth.
Conclusions
This study has identified an independent association between VA tortuosity and iVADA growth.
6.Effect of Residual Stone Fragments on Patient-Reported Quality of Life after Endoscopic Kidney Stone Surgery
Sang Hee LEE ; Jun-Koo KANG ; Jae-Wook CHUNG ; Yun-Sok HA ; Jun Nyung LEE ; Seock Hwan CHOI ; Hyun Tae KIM ; Tae-Hwan KIM ; Eun Sang YOO ; Tae Gyun KWON ; Bum Soo KIM
Urogenital Tract Infection 2024;19(2):31-39
Purpose:
This study examined the effects of residual fragments (RF) on the patient-reported quality of life (QOL) after kidney stone surgery, such as retrograde intrarenal surgery (RIRS) and percutaneous nephrolithotomy (PCNL), using the Korean version of the Wisconsin Stone Quality of Life Questionnaire (K-WISQOL).
Materials and Methods:
The medical records of 156 patients who underwent RIRS or PCNL and completed the preoperative and postoperative K-WISQOL from January 2021 to September 2023 were analyzed retrospectively. The patients were divided into RIRS and PCNL groups by the surgical method. The participants completed the K-WISQOL within four weeks before and after treatment. The patients’ baseline characteristics, surgical outcomes, and K-WISQOL scores were compared according to the presence of RF in each surgical group.
Results:
Of the 156 patients, 95 underwent RIRS, and 61 underwent PCNL. In the RIRS group, the patients’ baseline characteristics and surgical outcomes were similar in the stone-free (SF) and RF subgroups. The changes in all K-WISQOL domain scores and total scores were similar in the two subgroups. In the PCNL group, the RF subgroup had a significantly higher proportion of staghorn stones, a significantly larger mean stone diameter and significantly longer operation time than those of the SF subgroup. But, the changes in all K-WISQOL domain scores and total scores were not significantly different between the two subgroups, as observed in the RIRS group.
Conclusions
This study showed that the presence of RFs after endoscopic kidney surgery did not affect the short-term patient-reported QOL regardless of the surgical methods.
7.Outbreak of Cystoscopy-Related Urinary Tract Infections With Pseudomonas aeruginosa in South Korea, 2022: A Case Series
Beomsoo KIM ; Young-Sin CHOI ; Jun-Koo KANG ; Yun-Sok HA ; Seock Hwan CHOI ; Bum Soo KIM ; Hyun Tae KIM ; Eun Sang YOO ; Tae Gyun KWON ; Jae-Wook CHUNG ; Tae-Hwan KIM
Urogenital Tract Infection 2024;19(3):97-103
Purpose:
This study conducted an epidemiological investigation of Pseudomonas aeruginosa urinary tract infections (UTIs) following cystoscopy at Chilgok Kyungpook National University Hospital.
Materials and Methods:
From May 16 to July 15, 2022, among 353 patients who underwent cystoscopy, 6 patients reported febrile UTIs following cystoscopy. They were admitted to the urology department of the hospital after visiting the Emergency Department. P. aeruginosa was found in the urine cultures of 4 of the 6 hospitalized patients. During the epidemiological investigation, no changes were observed in factors such as the reprocessing procedures for endoscopic equipment. Therefore, microbiological tests were performed using environmental samples derived from the endoscopic equipment and cleaning process.
Results:
P. aeruginosa was identified in a dual-enzymatic detergent (EmPower) used during the endoscope cleaning process. After changing the disinfectant and cleaning process, no further bacterial growth was observed in subsequent microbiological tests.
Conclusions
This study highlights the potential of cystoscopes to serve as reservoirs for bacteria due to inadequate cleaning during the disinfection process. To minimize the risk of infections following cystoscopy, it is important to pay close attention to the reprocessing and cleaning of cystoscopes.
8.Effect of Intravenous Thrombolysis Prior to Mechanical Thrombectomy According to the Location of M1 Occlusion
Jae-Chan RYU ; Boseong KWON ; Yunsun SONG ; Deok Hee LEE ; Jun Young CHANG ; Dong-Wha KANG ; Sun U. KWON ; Jong S. KIM ; Bum Joon KIM
Journal of Stroke 2024;26(1):75-86
Background:
and Purpose The additive effects of intravenous thrombolysis (IVT) before mechanical thrombectomy (MT) remain unclear. We aimed to investigate the efficacy and safety of IVT prior to MT depending on the location of M1 occlusion.
Methods:
We reviewed the cases of patients who underwent MT for emergent large-vessel occlusion of the M1 segment. Baseline characteristics as well as clinical and periprocedural variables were compared according to the location of M1 occlusion (i.e., proximal and distal M1 occlusion). The main outcome was the achievement of functional independence (modified Rankin Scale score, 0–2) at 3 months after stroke. The main outcomes were compared between the proximal and distal groups based on the use of IVT before MT.
Results:
Among 271 patients (proximal occlusion, 44.6%; distal occlusion, 55.4%), 33.9% (41/121) with proximal occlusion and 24.7% (37/150) with distal occlusion underwent IVT prior to MT. Largeartery atherosclerosis was more common in patients with proximal M1 occlusion; cardioembolism was more common in those with distal M1 occlusion. In patients with proximal M1 occlusion, there was no association between IVT before MT and functional independence. In contrast, there was a significant association between the use of IVT prior to MT (odds ratio=5.30, 95% confidence interval=1.56–18.05, P=0.007) and functional independence in patients with distal M1 occlusion.
Conclusion
IVT before MT was associated with improved functional outcomes in patients with M1 occlusion, especially in those with distal M1 occlusion but not in those with proximal M1 occlusion.
9.Device Closure or Antithrombotic Therapy After Cryptogenic Stroke in Elderly Patients With a High-Risk Patent Foramen Ovale
Pil Hyung LEE ; Jung-Sun KIM ; Jae-Kwan SONG ; Sun U. KWON ; Bum Joon KIM ; Ji Sung LEE ; Byung Joo SUN ; Jong Shin WOO ; Soe Hee ANN ; Jung-Won SUH ; Jun Yup KIM ; Kyusup LEE ; Sang Yeub LEE ; Ran HEO ; Soo JEONG ; Jeong Yoon JANG ; Jang-Whan BAE ; Young Dae KIM ; Sung Hyuk HEO ; Jong S. KIM
Journal of Stroke 2024;26(2):242-251
Background:
and Purpose In young patients (aged 18–60 years) with patent foramen ovale (PFO)- associated stroke, percutaneous closure has been found to be useful for preventing recurrent ischemic stroke or transient ischemic attack (TIA). However, it remains unknown whether PFO closure is also beneficial in older patients.
Methods:
Patients aged ≥60 years who had a cryptogenic stroke and PFO from ten hospitals in South Korea were included. The effect of PFO closure plus medical therapy over medical therapy alone was assessed by a propensity-score matching method in the overall cohort and in those with a high-risk PFO, characterized by the presence of an atrial septal aneurysm or a large shunt.
Results:
Out of the 437 patients (mean age, 68.1), 303 (69%) had a high-risk PFO and 161 (37%) patients underwent PFO closure. Over a median follow-up of 3.9 years, recurrent ischemic stroke or TIA developed in 64 (14.6%) patients. In the propensity score-matched cohort of the overall patients (130 pairs), PFO closure was associated with a significantly lower risk of a composite of ischemic stroke or TIA (hazard ratio [HR]: 0.45; 95% confidence interval [CI]: 0.24–0.84; P=0.012), but not for ischemic stroke. In a subgroup analysis of confined to the high-risk PFO patients (116 pairs), PFO closure was associated with significantly lower risks of both the composite of ischemic stroke or TIA (HR: 0.40; 95% CI: 0.21–0.77; P=0.006) and ischemic stroke (HR: 0.47; 95% CI: 0.23–0.95; P=0.035).
Conclusion
Elderly patients with cryptogenic stroke and PFO have a high recurrence rate of ischemic stroke or TIA, which may be significantly reduced by device closure.
10.A Multimodal Ensemble Deep Learning Model for Functional Outcome Prognosis of Stroke Patients
Hye-Soo JUNG ; Eun-Jae LEE ; Dae-Il CHANG ; Han Jin CHO ; Jun LEE ; Jae-Kwan CHA ; Man-Seok PARK ; Kyung Ho YU ; Jin-Man JUNG ; Seong Hwan AHN ; Dong-Eog KIM ; Ju Hun LEE ; Keun-Sik HONG ; Sung-Il SOHN ; Kyung-Pil PARK ; Sun U. KWON ; Jong S. KIM ; Jun Young CHANG ; Bum Joon KIM ; Dong-Wha KANG ;
Journal of Stroke 2024;26(2):312-320
Background:
and Purpose The accurate prediction of functional outcomes in patients with acute ischemic stroke (AIS) is crucial for informed clinical decision-making and optimal resource utilization. As such, this study aimed to construct an ensemble deep learning model that integrates multimodal imaging and clinical data to predict the 90-day functional outcomes after AIS.
Methods:
We used data from the Korean Stroke Neuroimaging Initiative database, a prospective multicenter stroke registry to construct an ensemble model integrated individual 3D convolutional neural networks for diffusion-weighted imaging and fluid-attenuated inversion recovery (FLAIR), along with a deep neural network for clinical data, to predict 90-day functional independence after AIS using a modified Rankin Scale (mRS) of 3–6. To evaluate the performance of the ensemble model, we compared the area under the curve (AUC) of the proposed method with that of individual models trained on each modality to identify patients with AIS with an mRS score of 3–6.
Results:
Of the 2,606 patients with AIS, 993 (38.1%) achieved an mRS score of 3–6 at 90 days post-stroke. Our model achieved AUC values of 0.830 (standard cross-validation [CV]) and 0.779 (time-based CV), which significantly outperformed the other models relying on single modalities: b-value of 1,000 s/mm2 (P<0.001), apparent diffusion coefficient map (P<0.001), FLAIR (P<0.001), and clinical data (P=0.004).
Conclusion
The integration of multimodal imaging and clinical data resulted in superior prediction of the 90-day functional outcomes in AIS patients compared to the use of a single data modality.

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