1.Radiation-Induced Meningiomas Have an Aggressive Clinical Course:Genetic Signature Is Limited to NF2Alterations, and Epigenetic Signature Is H3K27me3 Loss
Tae-Kyun KIM ; Jong Seok LEE ; Ji Hoon PHI ; Seung Ah CHOI ; Joo Whan KIM ; Chul-Kee PARK ; Hongseok YUN ; Young-Soo PARK ; Sung-Hye PARK ; Seung-Ki KIM
Journal of Korean Medical Science 2025;40(18):e62-
Background:
While the clinical course of radiation-induced meningioma (RIM) is considered to be more aggressive than that of sporadic meningioma (SM), the genetic predisposition for RIM is not established well. The present study aimed to analyze the clinical and genetic characteristics of RIMs to increase understanding of the tumorigenesis and prognosis of RIMs. Methods: We investigated a database of 24 patients who met the RIM criteria between January 2000 and April 2023. Genetic analysis through next-generation sequencing with a targeted gene panel was performed on 10 RIM samples. Clinical, radiological, and pathological parameters were evaluated with genetic analyses.
Results:
The median ages for receiving radiotherapy (RT) and RIM diagnosis were 8.0 and 27.5 years, respectively, with an interval of 17.5 years between RT and RIM diagnosis. RIMs tended to develop in non-skull bases and multifocal locations. Most primary pathologies included germ cell tumors and medulloblastoma. The tumor growth rate was 3.83 cm 3 per year, and the median doubling time was 0.8 years. All patients underwent surgical resection of RIMs. The histological grade of RIMs was World Health Organization grade 1 (64%) or 2 (36%). RIMs showed higher incidences in young-age (63%), high-dose (75%), and extendedfield (79%) RT groups. The recurrence rate was 21%. Genetic analysis revealed NF2 one copy loss in 90% of the patients, with truncating NF2 mutations and additional copy number aberrations in grade 2 RIMs. TERT promoter mutation and CDKN2A/B deletion were not identified. Notably, loss of H3K27me3 was identified in 26% of RIMs. H3K27me3 loss was associated with a higher prevalence of grade 2 RIMs (67%) and high recurrence rates (33%).
Conclusion
The study reveals a higher prevalence of high-grade tumors among RIMs with more rapid growth and higher recurrences than SMs. Genetically, RIMs are primarily associated with NF-2 alterations with chromosomal abnormalities in grade 2 tumors, along with a higher proportion of H3K27me3 loss.
2.Estimating the Prevalence of Autosomal Recessive Neuromuscular Diseases in the Korean Population
Soo-Hyun KIM ; Yunjung CHOI ; Young-Chul CHOI ; Seung Woo KIM ; Ha Young SHIN ; Hyung Jun PARK
Journal of Korean Medical Science 2025;40(19):e68-
Background:
Genetic neuromuscular diseases (NMDs) are a heterogeneous group of conditions that primarily affect the peripheral nerves, muscles, and neuromuscular junctions. This study was performed to identify pathogenic or likely pathogenic variants (PLPVs), calculate carrier frequencies, and predict the genetic prevalence of autosomal recessive-NMDs (AR-NMDs) in a Korean population.
Methods:
In total, 267 genes were associated with AR-NMDs. We analyzed genetic variants from 984 Korean whole genomes and identified PLPVs to assess the carrier frequency and genetic prevalence of the variants.
Results:
We identified 165 PLPVs, including 75 literature verified and 90 manually verified variants. Most PLPVs in AR-NMD genes were frameshifts (61, 37.0%), followed by nonsense (36, 21.8%), missense (35, 21.2%), and splice variants (28, 17.0%). The carrier frequency of the AR-NMDs was 27.1%. DYSF exhibited the highest carrier frequency (1.63%), followed by GAA (1.55%), HEXB (1.53%), PREPL (0.76%), NEB (0.66%), ADSS1 (0.65%), ALPK3 (0.65%), and CHRNG (0.65%). The predicted genetic prevalence of AR-NMDs in the Korean population was 38.0 cases per 100,000 individuals. DYSF (6.7 cases per 100,000 individuals) showed the highest genetic prevalence. The variant with the highest allele frequency was c.1250C>T in HEXB at 0.00764, followed by c.[752T>C; c.761C>T] in GAA at 0.00505, and c.2055+2T>G in DYSF at 0.00437.
Conclusion
Our study suggests that 27.1% of the Korean population are healthy carriers of at least one AR-NMD causing PLPV, revealing the genetic prevalence of NMDs in the Korean population.
3.Epidemiology and Functional Outcome of Acute Stroke Patients in Korea Using Nationwide data
Seungmin SHIN ; Young Woo KIM ; Seung Hun SHEEN ; Sukh Que PARK ; Sung-Chul JIN ; Jin Pyeong JEON ; Ji Young LEE ; Boung Chul LEE ; Young Wha LIM ; Gui Ok KIM ; Youg Uk KWON ; Yu Ra LEE ; So Young HAN ; Jae Sang OH
Journal of Korean Neurosurgical Society 2025;68(2):159-176
Objective:
: Korea’s healthcare system and policy promotes early, actively stroke treatment to improve prognosis. This study represents stroke epidemiology and outcomes in Korea.
Methods:
: This study investigated data from the Acute Stroke Assessment Registry. The registry collects data from over 220 hospitals nationwide, focusing on quality stroke service management. Data analysis included patient demographics, stroke severity assessment, and discharge prognosis measurement using standardized scales.
Results:
: Eighty-six thousand five hundred sixty-eight acute stroke patients were collected with demographic and clinical characteristics during 18 months from 2016, 2018, and between 2020 to 2021, focusing on acute subarachnoid hemorrhage (SAH), acute intracerebral hemorrhage (ICH), and acute ischemic stroke. Of these 86568 patients, 8.3% was SAH, 16.3% ICH, and 74.9% ischemic stroke. Trends showed decreasing SAH and increasing ICH cases over the years. 68.3% stroke patients had the clear onset time. 49.6% stroke patients arrived within 4.5 hours of symptom onset, with more patients treated at general hospitals. Good functional outcomes at discharge was obtained with 58.3% of acute stroke patients, 55.9% of SAH patients, 34.6% of ICH patients, and 63.8% of ischemic stroke patients.
Conclusion
: The results showed that ischemic stroke was the most common subtype, followed by ICH and SAH. Prognosis differed among subtypes, with favorable outcomes more common in ischemic stroke and SAH compared to ICH.
4.A Comparison between Keratograph 5M® and IDRA® in Dry Eye Patients
Seo Woo PARK ; Ha-Rim SO ; Ji Won BAEK ; Ho Sik HWANG ; Kyung-Sun NA ; Ho RA ; Nam Yeo KANG ; Hyun Seung KIM ; Eun Chul KIM
Journal of the Korean Ophthalmological Society 2025;66(4):175-180
Purpose:
To evaluate the compatibility and usability of test results obtained from the IDRA and Keratograph 5M in clinical settings by comparing their performance in patients with dry eye disease.
Methods:
From December 27 to 30, 2022, a study was conducted on 30 patients diagnosed with dry eye utilizing both the Keratograph 5M and IDRA devices. The parameters compared and analyzed included lipid layer thickness, tear meniscus height, tear film break-up time, and meibography. A paired t-test was used for statistical comparison. The lipid layer thickness in the Keratograph 5M was graded on a scale from 0 to 4 based on thickness.
Results:
No significant differences were found between the two devices in tear film break-up time, tear meniscus height, and meibography (p = 0.148, 0.072, 0.124, respectively). However, the tear lipid layer thickness measured by IDRA showed a proportional relationship with the grade assigned by the Keratograph 5M (Kendall R = 0.217, p = 0.037; Spearman R = 0.260, p = 0.045).
Conclusions
The IDRA device offers the advantage of performing multiple dry eye tests; simultaneously, thereby saving time compared to the Keratograph 5M. Both devices can be used compatibly with IDRA particularly advantageous for providing a numerical value for tear lipid layer thickness which enhances the convenience of dry eye diagnosis and treatment.
5.Combination of Aβ40, Aβ42, and Tau Plasma Levels to Distinguish Amyloid-PET Positive Alzheimer Patients from Normal Controls
Seungyeop BAEK ; Jinny Claire LEE ; Byung Hyun BYUN ; Su Yeon PARK ; Jeong Ho HA ; Kyo Chul LEE ; Seung-Hoon YANG ; Jun-Seok LEE ; Seungpyo HONG ; Gyoonhee HAN ; Sang Moo LIM ; YoungSoo KIM ; Hye Yun KIM
Experimental Neurobiology 2025;34(1):1-8
Alzheimer disease (AD) diagnosis is confirmed using a medley of modalities, such as the detection of amyloid-β (Aβ) neuritic plaques and neurofibrillary tangles with positron electron tomography (PET) or the appraisal of irregularities in cognitive function with examinations. Although these methods have been efficient in confirming AD pathology, the rising demand for earlier intervention during pathogenesis has led researchers to explore the diagnostic potential of fluid biomarkers in cerebrospinal fluid (CSF) and plasma. Since CSF sample collection is invasive and limited in quantity, biomarker detection in plasma has become more attractive and modern advancements in technology has permitted more efficient and accurate analysis of plasma biomolecules. In this study, we found that a composite of standard factors, Aβ40 and total tau levels in plasma, divided by the variation factor, plasma Aβ42 level, provide better correlation with amyloid neuroimaging and neuropsychological test results than a level comparison between total tau and Aβ42 in plasma. We collected EDTA-treated blood plasma samples of 53 subjects, of randomly selected 27 AD patients and 26 normal cognition (NC) individuals, who received amyloid-PET scans for plaque quantification, and measured plasma levels of Aβ40, Aβ42, and total tau with digital enzyme-linked immunosorbent assay (ELISA) in a blinded manner. There was difficulty distinguishing AD patients from controls when analyzing biomarkers independently. However, significant differentiation was observed between the two groups when comparing individual ratios of total-tau×Aβ40/Aβ42. Our results indicate that collectively comparing fluctuations of these fluid biomarkers could aid in monitoring AD pathogenesis.
6.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.
7.Radiation-Induced Meningiomas Have an Aggressive Clinical Course:Genetic Signature Is Limited to NF2Alterations, and Epigenetic Signature Is H3K27me3 Loss
Tae-Kyun KIM ; Jong Seok LEE ; Ji Hoon PHI ; Seung Ah CHOI ; Joo Whan KIM ; Chul-Kee PARK ; Hongseok YUN ; Young-Soo PARK ; Sung-Hye PARK ; Seung-Ki KIM
Journal of Korean Medical Science 2025;40(18):e62-
Background:
While the clinical course of radiation-induced meningioma (RIM) is considered to be more aggressive than that of sporadic meningioma (SM), the genetic predisposition for RIM is not established well. The present study aimed to analyze the clinical and genetic characteristics of RIMs to increase understanding of the tumorigenesis and prognosis of RIMs. Methods: We investigated a database of 24 patients who met the RIM criteria between January 2000 and April 2023. Genetic analysis through next-generation sequencing with a targeted gene panel was performed on 10 RIM samples. Clinical, radiological, and pathological parameters were evaluated with genetic analyses.
Results:
The median ages for receiving radiotherapy (RT) and RIM diagnosis were 8.0 and 27.5 years, respectively, with an interval of 17.5 years between RT and RIM diagnosis. RIMs tended to develop in non-skull bases and multifocal locations. Most primary pathologies included germ cell tumors and medulloblastoma. The tumor growth rate was 3.83 cm 3 per year, and the median doubling time was 0.8 years. All patients underwent surgical resection of RIMs. The histological grade of RIMs was World Health Organization grade 1 (64%) or 2 (36%). RIMs showed higher incidences in young-age (63%), high-dose (75%), and extendedfield (79%) RT groups. The recurrence rate was 21%. Genetic analysis revealed NF2 one copy loss in 90% of the patients, with truncating NF2 mutations and additional copy number aberrations in grade 2 RIMs. TERT promoter mutation and CDKN2A/B deletion were not identified. Notably, loss of H3K27me3 was identified in 26% of RIMs. H3K27me3 loss was associated with a higher prevalence of grade 2 RIMs (67%) and high recurrence rates (33%).
Conclusion
The study reveals a higher prevalence of high-grade tumors among RIMs with more rapid growth and higher recurrences than SMs. Genetically, RIMs are primarily associated with NF-2 alterations with chromosomal abnormalities in grade 2 tumors, along with a higher proportion of H3K27me3 loss.
8.Estimating the Prevalence of Autosomal Recessive Neuromuscular Diseases in the Korean Population
Soo-Hyun KIM ; Yunjung CHOI ; Young-Chul CHOI ; Seung Woo KIM ; Ha Young SHIN ; Hyung Jun PARK
Journal of Korean Medical Science 2025;40(19):e68-
Background:
Genetic neuromuscular diseases (NMDs) are a heterogeneous group of conditions that primarily affect the peripheral nerves, muscles, and neuromuscular junctions. This study was performed to identify pathogenic or likely pathogenic variants (PLPVs), calculate carrier frequencies, and predict the genetic prevalence of autosomal recessive-NMDs (AR-NMDs) in a Korean population.
Methods:
In total, 267 genes were associated with AR-NMDs. We analyzed genetic variants from 984 Korean whole genomes and identified PLPVs to assess the carrier frequency and genetic prevalence of the variants.
Results:
We identified 165 PLPVs, including 75 literature verified and 90 manually verified variants. Most PLPVs in AR-NMD genes were frameshifts (61, 37.0%), followed by nonsense (36, 21.8%), missense (35, 21.2%), and splice variants (28, 17.0%). The carrier frequency of the AR-NMDs was 27.1%. DYSF exhibited the highest carrier frequency (1.63%), followed by GAA (1.55%), HEXB (1.53%), PREPL (0.76%), NEB (0.66%), ADSS1 (0.65%), ALPK3 (0.65%), and CHRNG (0.65%). The predicted genetic prevalence of AR-NMDs in the Korean population was 38.0 cases per 100,000 individuals. DYSF (6.7 cases per 100,000 individuals) showed the highest genetic prevalence. The variant with the highest allele frequency was c.1250C>T in HEXB at 0.00764, followed by c.[752T>C; c.761C>T] in GAA at 0.00505, and c.2055+2T>G in DYSF at 0.00437.
Conclusion
Our study suggests that 27.1% of the Korean population are healthy carriers of at least one AR-NMD causing PLPV, revealing the genetic prevalence of NMDs in the Korean population.
9.Epidemiology and Functional Outcome of Acute Stroke Patients in Korea Using Nationwide data
Seungmin SHIN ; Young Woo KIM ; Seung Hun SHEEN ; Sukh Que PARK ; Sung-Chul JIN ; Jin Pyeong JEON ; Ji Young LEE ; Boung Chul LEE ; Young Wha LIM ; Gui Ok KIM ; Youg Uk KWON ; Yu Ra LEE ; So Young HAN ; Jae Sang OH
Journal of Korean Neurosurgical Society 2025;68(2):159-176
Objective:
: Korea’s healthcare system and policy promotes early, actively stroke treatment to improve prognosis. This study represents stroke epidemiology and outcomes in Korea.
Methods:
: This study investigated data from the Acute Stroke Assessment Registry. The registry collects data from over 220 hospitals nationwide, focusing on quality stroke service management. Data analysis included patient demographics, stroke severity assessment, and discharge prognosis measurement using standardized scales.
Results:
: Eighty-six thousand five hundred sixty-eight acute stroke patients were collected with demographic and clinical characteristics during 18 months from 2016, 2018, and between 2020 to 2021, focusing on acute subarachnoid hemorrhage (SAH), acute intracerebral hemorrhage (ICH), and acute ischemic stroke. Of these 86568 patients, 8.3% was SAH, 16.3% ICH, and 74.9% ischemic stroke. Trends showed decreasing SAH and increasing ICH cases over the years. 68.3% stroke patients had the clear onset time. 49.6% stroke patients arrived within 4.5 hours of symptom onset, with more patients treated at general hospitals. Good functional outcomes at discharge was obtained with 58.3% of acute stroke patients, 55.9% of SAH patients, 34.6% of ICH patients, and 63.8% of ischemic stroke patients.
Conclusion
: The results showed that ischemic stroke was the most common subtype, followed by ICH and SAH. Prognosis differed among subtypes, with favorable outcomes more common in ischemic stroke and SAH compared to ICH.
10.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.

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