1.Genotype-Phenotype Correlations and Functional Outcomes in Pediatric Patients with KCNQ2-Related Epilepsy: A Multicenter Observational Study in Korea
Eon Ah KIM ; Mi-Sun YUM ; Seungbok LEE ; Jae So CHO ; Jeehun LEE ; Byung Chan LIM
Annals of Child Neurology 2025;33(2):48-55
Purpose:
Potassium voltage-gated channel subfamily Q member 2 (KCNQ2)-related epilepsy, caused by mutations in the KCNQ2 gene, encompasses a spectrum of epileptic phenotypes, ranging from self-limited epilepsy to severe developmental and epileptic encephalopathy (DEE). Although the mutational background of these disorders has been characterized, predicting outcomes based solely on genetic variants remains challenging.
Methods:
This multicenter observational study investigated the clinical features, genotype-phenotype correlations, and comorbidities in pediatric patients with KCNQ2-related epilepsy in Korea. Conducted across three tertiary hospitals, the study enrolled 20 pediatric patients with genetically confirmed KCNQ2-related epilepsy. Data were collected from medical records, including demographic information, age at seizure onset, types of seizures, comorbidities, and treatment history.
Results:
Of the 20 patients enrolled, nine had self-limited epilepsy, while 11 had DEE. Missense mutations were more prevalent in the DEE group, whereas truncation mutations were associated with milder forms of epilepsy. Although 75% of cases achieved effective seizure control, 55% of patients exhibited comorbidities such as intellectual disability and neuropsychiatric disorders. Genotype-phenotype correlations revealed variability in clinical outcomes, with specific mutations in similar regions resulting in different phenotypes.
Conclusion
This study highlights the complexity of KCNQ2-related epilepsy, demonstrating that genotype-phenotype correlations are not straightforward and may be influenced by genetic modifiers, environmental factors, or dominant negative effects. While seizure control often improves, neurodevelopmental challenges may persist, underscoring the need for therapeutic approaches that address both seizure management and developmental support. Further research into the relevant non-genetic factors is essential to enhance the understanding and treatment of KCNQ2-related epilepsy.
2.Hepatoprotective Effects of Resveratrol on Acetaminophen-Induced Acute Liver Injury and Its Implications for Tofacitinib Disposition in Rats
Hyeon Gyeom CHOI ; So Yeon PARK ; Sung Hun BAE ; Sun-Young CHANG ; So Hee KIM
Biomolecules & Therapeutics 2025;33(3):501-509
Tofacitinib, which is used to treat rheumatoid arthritis (RA), is primarily metabolized by the hepatic cytochrome P450 (CYP) enzymes, CYP3A1/2 and CYP2C11. Acetaminophen (APAP), which is frequently used for pain relief in patients with RA, can induce acute liver injury (ALI) when taken in excess, profoundly affecting drug metabolism. Resveratrol (RVT) is a polyphenolic compound with hepatoprotective properties. This study investigated the protective effects of RVT against APAP-induced ALI in rats, and explored its influence on the pharmacokinetics of tofacitinib. In ALI rats, both intravenous and oral administration of tofacitinib resulted in a significant (207% and 181%) increase in the area under the plasma concentration-time curve (AUC), primarily driven by a substantial reduction (66.1%) in non-renal clearance (CLNR) compared to that in control (CON) rats. Notably, RVT administration in ALI rats provided effective liver protection, partially restoring liver function, as evidenced by normalized glutamate oxaloacetate transaminase levels and the pharmacokinetic parameters, AUC and CLNR, closer to those observed in untreated CON rats (117% and 81.9%, respectively). These findings highlight the importance of considering the potential interactions between RVT or polyphenol-rich natural products and medications in patients with ALI in clinical practice.
3.Interpretation, Reporting, Imaging-Based Workups, and Surveillance of Incidentally Detected Gallbladder Polyps and Gallbladder Wall Thickening: 2025 Recommendations From the Korean Society of Abdominal Radiology
Won CHANG ; Sunyoung LEE ; 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 ; Jeong Hee YOON
Korean Journal of Radiology 2025;26(2):102-134
Incidentally detected gallbladder polyps (GBPs) and gallbladder wall thickening (GBWT) are frequently encountered in clinical practice. However, characterizing GBPs and GBWT in asymptomatic patients can be challenging and may result in overtreatment, including unnecessary follow-ups or surgeries. The Korean Society of Abdominal Radiology (KSAR) Clinical Practice Guideline Committee has developed expert recommendations that focus on standardized imaging interpretation and follow-up strategies for both GBPs and GBWT, with support from the Korean Society of Radiology and KSAR. These guidelines, which address 24 key questions, aim to standardize the approach for the interpretation of imaging findings, reporting, imaging-based workups, and surveillance of incidentally detected GBPs and GBWT. This recommendation promotes evidence-based practice, facilitates communication between radiologists and referring physicians, and reduces unnecessary interventions.
4.Posterior subependymal germinal matrix hemorrhage as a mild form of hemorrhage in extremely preterm infants: neurodevelopmental outcomes at corrected ages of 18-24 months
Jae Mo KOO ; So-Young YOO ; Ji Hye KIM ; Ji Eun PARK ; Sun-Young BAEK ; Tae Yeon JEON
Ultrasonography 2025;44(1):48-61
Purpose:
This study aimed to explore the effects of both the presence and size of posterior subependymal germinal matrix hemorrhage (PS-GMH), considered a mild form of hemorrhage, on the neurodevelopmental outcomes of extremely preterm infants.
Methods:
A retrospective analysis was conducted on 221 extremely preterm infants, assessing their initial and term-equivalent age (TEA) cranial ultrasound (cUS) examinations from 2016 to 2021. Infants were classified based on the presence and size (small/large) of PS-GMH. Neurodevelopmental outcomes at corrected ages of 18-24 months were analyzed in 135 infants.
Results:
PS-GMH was identified in 86.9% (192/221) of the infants, with 13.5% (26/192) exhibiting large PS-GMH. Among the 135 infants who were followed up, those with PS-GMH were found to have younger gestational ages (P<0.001) and a higher incidence of maternal chorioamnionitis (P=0.016) than those without PS-GMH. Significant differences were observed in the incidence of grade II intraventricular hemorrhage (IVH) on initial cUS (P=0.003) and ventriculomegaly at TEA cUS (P=0.026) across the groups with no PS-GMH, small PS-GMH, and large PS-GMH. The large PS-GMH group exhibited a higher occurrence of grade II IVH than the small PS-GMH group (P=0.006). However, ventriculomegaly incidence did not significantly vary with PS-GMH status. Neurodevelopmental outcomes were also not significantly different across PS-GMH statuses. The adjusted odds ratios for any neurodevelopmental impairment, compared to the no PS-GMH group, were 1.70 (95% confidence interval [CI], 0.40 to 7.26; P=0.471) for all PS-GMH, 1.61 (95% CI, 0.37 to 6.93; P=0.526) for small PS-GMH, and 3.84 (95% CI, 0.62 to 24.00; P=0.150) for large PS-GMH.
Conclusion
PS-GMH was frequently observed in extremely preterm infants; however, it did not independently predict adverse neurodevelopmental outcomes.
5.Interpretation, Reporting, Imaging-Based Workups, and Surveillance of Incidentally Detected Gallbladder Polyps and Gallbladder Wall Thickening: 2025 Recommendations From the Korean Society of Abdominal Radiology
Won CHANG ; Sunyoung LEE ; 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 ; Jeong Hee YOON
Korean Journal of Radiology 2025;26(2):102-134
Incidentally detected gallbladder polyps (GBPs) and gallbladder wall thickening (GBWT) are frequently encountered in clinical practice. However, characterizing GBPs and GBWT in asymptomatic patients can be challenging and may result in overtreatment, including unnecessary follow-ups or surgeries. The Korean Society of Abdominal Radiology (KSAR) Clinical Practice Guideline Committee has developed expert recommendations that focus on standardized imaging interpretation and follow-up strategies for both GBPs and GBWT, with support from the Korean Society of Radiology and KSAR. These guidelines, which address 24 key questions, aim to standardize the approach for the interpretation of imaging findings, reporting, imaging-based workups, and surveillance of incidentally detected GBPs and GBWT. This recommendation promotes evidence-based practice, facilitates communication between radiologists and referring physicians, and reduces unnecessary interventions.
6.Characteristics and trends of severe/critical COVID-19cases in the Republic of Korea (January 2020 to August 2023)
Se-Jin JEONG ; Shin Young PARK ; Boyeong RYU ; Misuk AN ; Jin-Hwan JEON ; So Young CHOI ; Seong-Sun KIM
Osong Public Health and Research Perspectives 2025;16(1):81-88
Objectives:
We analyzed the demographic and clinical characteristics of patients diagnosedwith coronavirus disease 2019 (COVID-19), focusing specifically on severe/critical cases, andassessed the trends and rates of severity and fatality among these patients in the Republic of Korea.
Methods:
Clinical data on patients with COVID-19 from January 20, 2020 to August 30, 2023were collected from the Korea Disease Control and Prevention Agency’s database. We identified patients who progressed to severe/critical conditions and analyzed their demographic and clinical profiles. Severity and fatality rates were calculated and compared annually to track thedisease progression over time.
Results:
During the surveillance period, 34,572,554 COVID-19 cases were confirmed, among whom 38,112 (0.11%) progressed to severe/critical conditions. Most severe/critical cases occurred in individuals aged ≥60 years, with a notable increase in patients aged ≥80 years from 2022.The overall severity rate was 0.19%, with a fatality rate of 0.10%. However, the severity of cases gradually diminished during the study period. In 2022, the severity and fatality rates decreased to 0.14% and 0.09%, respectively. In 2023, while the severity rate remained stable at 0.15%, thefatality rate further decreased to 0.06%. Notably, throughout the study period, individuals aged ≥80 years had a significantly higher severity rate (2.44%), with a fatality rate of 1.75%.
Conclusion
These findings underscore the importance of prioritizing protection and management strategies for older adults and high-risk groups to mitigate the impact ofCOVID-19. Continued surveillance and analysis are essential to effectively control COVID-19 and minimize its burden on public health.
7.Posterior subependymal germinal matrix hemorrhage as a mild form of hemorrhage in extremely preterm infants: neurodevelopmental outcomes at corrected ages of 18-24 months
Jae Mo KOO ; So-Young YOO ; Ji Hye KIM ; Ji Eun PARK ; Sun-Young BAEK ; Tae Yeon JEON
Ultrasonography 2025;44(1):48-61
Purpose:
This study aimed to explore the effects of both the presence and size of posterior subependymal germinal matrix hemorrhage (PS-GMH), considered a mild form of hemorrhage, on the neurodevelopmental outcomes of extremely preterm infants.
Methods:
A retrospective analysis was conducted on 221 extremely preterm infants, assessing their initial and term-equivalent age (TEA) cranial ultrasound (cUS) examinations from 2016 to 2021. Infants were classified based on the presence and size (small/large) of PS-GMH. Neurodevelopmental outcomes at corrected ages of 18-24 months were analyzed in 135 infants.
Results:
PS-GMH was identified in 86.9% (192/221) of the infants, with 13.5% (26/192) exhibiting large PS-GMH. Among the 135 infants who were followed up, those with PS-GMH were found to have younger gestational ages (P<0.001) and a higher incidence of maternal chorioamnionitis (P=0.016) than those without PS-GMH. Significant differences were observed in the incidence of grade II intraventricular hemorrhage (IVH) on initial cUS (P=0.003) and ventriculomegaly at TEA cUS (P=0.026) across the groups with no PS-GMH, small PS-GMH, and large PS-GMH. The large PS-GMH group exhibited a higher occurrence of grade II IVH than the small PS-GMH group (P=0.006). However, ventriculomegaly incidence did not significantly vary with PS-GMH status. Neurodevelopmental outcomes were also not significantly different across PS-GMH statuses. The adjusted odds ratios for any neurodevelopmental impairment, compared to the no PS-GMH group, were 1.70 (95% confidence interval [CI], 0.40 to 7.26; P=0.471) for all PS-GMH, 1.61 (95% CI, 0.37 to 6.93; P=0.526) for small PS-GMH, and 3.84 (95% CI, 0.62 to 24.00; P=0.150) for large PS-GMH.
Conclusion
PS-GMH was frequently observed in extremely preterm infants; however, it did not independently predict adverse neurodevelopmental outcomes.
8.Current status and needs of community-based practice in public healthcare institutions among Korean medical schools: a cross-sectional study
Songrim KIM ; Bongeun CHA ; Sun Young KYUNG ; So Jung YUNE ; Kyung Hye PARK ; Kwi Hwa PARK
Journal of Yeungnam Medical Science 2025;42(1):21-
Background:
This study analyzed the status of community-based practice in public healthcare institutions in Korean medical schools and identified related needs.
Methods:
We conducted an online cross-sectional survey in which 32 of 40 medical schools (80.0%) participated between March and April 2023. We developed questionnaire items aimed at ascertaining the status and perceptions of community-based practice and analyzed the response data using frequency analysis, the Mann-Whitney U test, and content analysis with word clouds.
Results:
Of the 32 medical schools analyzed, 23 (71.9%) offered practical courses, and of those, 12 (52.2%) implemented practice lessons within courses. Among 20 schools, 18 (90.0%) required students to complete practical courses and over 50% offered these courses in the third and fourth years of the clerkship phase. Perceptions of community practice showed no significant differences based on whether courses were offered. Many schools have proposed that practice should be a continuous curricular element from the premedical to medical years. The primary challenges facing community-based practice were identified as faculty development, collaboration, and compensation of practice institutions. The following words were extracted from the respondents’ comments: practice, community, institution, student, education, faculty, university, and public.
Conclusion
This study identified the limitations of community-based education provided by Korean medical schools and we report findings that highlight areas of improvement. Notable among these is the need to continuously incorporate community-based practice into medical education while engaging in discussions and conducting research toward developing a comprehensive and systematic curriculum.
9.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.
10.Eligibility for Lecanemab Treatment in the Republic of Korea:Real-World Data From Memory Clinics
Sung Hoon KANG ; Jee Hyang JEONG ; Jung-Min PYUN ; Geon Ha KIM ; Young Ho PARK ; YongSoo SHIM ; Seong-Ho KOH ; Chi-Hun KIM ; Young Chul YOUN ; Dong Won YANG ; Hyuk-je LEE ; Han LEE ; Dain KIM ; Kyunghwa SUN ; So Young MOON ; Kee Hyung PARK ; Seong Hye CHOI
Journal of Clinical Neurology 2025;21(3):182-189
Background:
and Purpose We aimed to determine the proportion of Korean patients with early Alzheimer’s disease (AD) who are eligible to receive lecanemab based on the United States Appropriate Use Recommendations (US AUR), and also identify the barriers to this treatment.
Methods:
We retrospectively enrolled 6,132 patients with amnestic mild cognitive impairment or mild amnestic dementia at 13 hospitals from June 2023 to May 2024. Among them, 2,058 patients underwent amyloid positron emission tomography (PET) and 1,199 (58.3%) of these patients were amyloid-positive on PET. We excluded 732 patients who did not undergo brain magnetic resonance imaging between June 2023 and May 2024. Finally, 467 patients were included in the present study.
Results:
When applying the criteria of the US AUR, approximately 50% of patients with early AD were eligible to receive lecanemab treatment. Among the 467 included patients, 36.8% did not meet the inclusion criterion of a Mini-Mental State Examination (MMSE) score of ≥22.
Conclusions
Eligibility for lecanemab treatment was not restricted to Korean patients with early AD except for those with an MMSE score of ≥22. The MMSE criteria should therefore be reconsidered in areas with a higher proportion of older people, who tend to have lower levels of education.

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