2.Genome-Wide Association Study Identifying a Novel Gene Related to a History of Febrile Convulsions in Patients With Focal Epilepsy
Joonho KIM ; Hye Jeong LEE ; Hyung Jun PARK ; Ji Hyun LEE ; Won-Joo KIM
Journal of Clinical Neurology 2025;21(2):123-130
Background:
and Purpose The risk factors for developing epilepsy following febrile convulsion (FC) have been studied extensively, but the underlying genetic components remain largely unexplored. Our objective here was to identify the risk loci related to FC through a genomewide association study of Korean epilepsy patients.
Methods:
We examined associations between a history of FC and single-nucleotide polymorphisms (SNPs) in data obtained from 125 patients with focal epilepsy: 28 with an FC history and 97 without an FC history.
Results:
Among 288,394 SNPs, 5 candidate SNPs showed p<1×10-4 . Regional association plots of these SNPs identified a novel locus adjacent to PROX1 that is implicated in hippocampal neurogenesis and epileptogenesis. The allele frequencies of the SNPs upstream of PROX1 including two candidate SNPs (rs1159179 and rs7554295 on chromosome 1) differed significantly between the groups with and without an FC history. In contrast, the allele frequencies of the SNPs inside PROX1 showed no differences, indicating dysregulated expression of PROX1 rather than a functional alteration in the PROX1 protein.
Conclusions
This novel discovery of SNPs upstream of PROX1 suggests that the dysregulated expression of PROX1 contributes to the development of focal epilepsy following FC. We propose that these SNPs are potential genetic markers for focal epilepsy following FC, and that PROX1 represents a potential therapeutic target of antiseizure medications.
3.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.
4.Prospective Multicenter Observational Study on Postoperative Quality of Life According to Type of Gastrectomy for Gastric Cancer
Sung Eun OH ; Yun-Suhk SUH ; Ji Yeong AN ; Keun Won RYU ; In CHO ; Sung Geun KIM ; Ji-Ho PARK ; Hoon HUR ; Hyung-Ho KIM ; Sang-Hoon AHN ; Sun-Hwi HWANG ; Hong Man YOON ; Ki Bum PARK ; Hyoung-Il KIM ; In Gyu KWON ; Han-Kwang YANG ; Byoung-Jo SUH ; Sang-Ho JEONG ; Tae-Han KIM ; Oh Kyoung KWON ; Hye Seong AHN ; Ji Yeon PARK ; Ki Young YOON ; Myoung Won SON ; Seong-Ho KONG ; Young-Gil SON ; Geum Jong SONG ; Jong Hyuk YUN ; Jung-Min BAE ; Do Joong PARK ; Sol LEE ; Jun-Young YANG ; Kyung Won SEO ; You-Jin JANG ; So Hyun KANG ; Bang Wool EOM ; Joongyub LEE ; Hyuk-Joon LEE ;
Journal of Gastric Cancer 2025;25(2):382-399
Purpose:
This study evaluated the postoperative quality of life (QoL) after various types of gastrectomy for gastric cancer.
Materials and Methods:
A multicenter prospective observational study was conducted in Korea using the Korean Quality of Life in Stomach Cancer Patients Study (KOQUSS)-40, a new QoL assessment tool focusing on postgastrectomy syndrome. Overall, 496 patients with gastric cancer were enrolled, and QoL was assessed at 5 time points: preoperatively and at 1, 3, 6, and 12 months after surgery.
Results:
Distal gastrectomy (DG) and pylorus-preserving gastrectomy (PPG) showed significantly better outcomes than total gastrectomy (TG) and proximal gastrectomy (PG) with regard to total score, indigestion, and dysphagia. DG, PPG, and TG also showed significantly better outcomes than PG in terms of dumping syndrome and worry about cancer. Postoperative QoL did not differ significantly according to anastomosis type in DG, except for Billroth I anastomosis, which achieved better bowel habit change scores than the others. No domains differed significantly when comparing double tract reconstruction and esophagogastrostomy after PG. The total QoL score correlated significantly with postoperative body weight loss (more than 10%) and extent of resection (P<0.05 for both).Reflux as assessed by KOQUSS-40 did not correlate significantly with reflux observed on gastroscopy 1 year postoperatively (P=0.064).
Conclusions
Our prospective observation using KOQUSS-40 revealed that DG and PPG lead to better QoL than TG and PG. Further study is needed to compare postoperative QoL according to anastomosis type in DG and PG.
5.Artemisinin-Quinidine Combination for Suppressing Ventricular Tachyarrhythmia in an Ex Vivo Model of Brugada Syndrome
Hyung Ki JEONG ; Namsik YOON ; Yoo Ri KIM ; Ki Hong LEE ; Hyung Wook PARK
Journal of Korean Medical Science 2025;40(1):e2-
Background:
The ionic mechanism underlying Brugada syndrome (BrS) arises from an imbalance in transient outward current flow between the epicardium and endocardium.Previous studies report that artemisinin, originally derived from a Chinese herb for antimalarial use, inhibits the Ito current in canines. In a prior study, we showed the antiarrhythmic effects of artemisinin in BrS wedge preparation models. However, quinidine remains a well-established antiarrhythmic agent for treating BrS. Therefore, this study aims to investigate the efficacy of combining artemisinin with low-dose quinidine in suppressing ventricular tachyarrhythmia (VTA) in experimental canine BrS models.
Methods:
Transmural pseudo-electrocardiogram and epicardial/endocardial action potential (AP) were recorded from coronary-perfused canine right ventricular wedge preparation. To mimic the BrS model, acetylcholine (3 μM), calcium channel blocker verapamil (1 μM), and Ito agonist NS5806 (6–10 μM) were administered until VTA was induced. Subsequently, lowdose quinidine (1–2 μM) combined with artemisinin (100 μM) was perfused to mitigate VTA.Key parameters, including AP duration, J wave area, notch index, and T wave dispersion, were measured.
Results:
After administering the provocation agents, all sample models exhibited prominent J waves and VTA. Artemisinin alone (100–150 μM) suppressed VTA and restored the AP dome in all three preparations. Its infusion resulted in reductions in the J wave area and epicardial notch index. Consequently, low-dose quinidine (1–2 μM) did not fully restore the AP dome in all six sample models. However, when combined with additional artemisinin (100 μM), lowdose quinidine effectively suppressed VTA in all six models and restored the AP dome while also decreasing the J wave area and epicardial notch index.
Conclusion
Low-dose quinidine alone fails to fully alleviate VTA in the BrS wedge model.However, its combination with artemisinin effectively suppresses VTA. Artemisinin may reduce the therapeutic dose of quinidine, potentially minimizing its associated adverse effects.
7.A customized guide device for single needle arthrocentesis on temporomandibular joint
Jun-Hyung JEON ; Sang-Hee PARK ; Pil-Young YUN ; Jeong-Kui KU
Journal of the Korean Association of Oral and Maxillofacial Surgeons 2025;51(2):95-101
Objectives:
This study aims to evaluate the accuracy and effectiveness of temporomandibular joint (TMJ) arthrocentesis using the three-dimensional (3D)-printed TMJ injection guide in cases of hemarthrosis caused by condyle fractures.
Materials and Methods:
A retrospective chart review was conducted for patients treated with the customized TMJ arthrocentesis guide to address hemarthrosis. Inclusion criteria included adults older than 18 years with condylar fractures not indicated for open reduction and internal fixation. The guide was fabricated using computed tomography or cone-beam computed tomography scans and 3D printing to control the degree and depth of the needle through the guide to aspirate hemarthrosis.
Results:
Six joints from five patients (average age 52.4 years) were treated using the guide. Post-procedural magnetic resonance imaging confirmed complete resolution of hemarthrosis in all cases. A representative case demonstrated successful outcomes with normal healing and no complications at 8 months post-procedure.
Conclusion
The customized TMJ injection guide, using ear-based reference points, significantly enhances the accuracy and safety of TMJ arthrocentesis. This innovation is expected to increase the accessibility and effectiveness of TMJ-related treatments for clinicians without specialized TMJ expertise.
8.Fasting is not always good: perioperative fasting leads to pronounced ketone body production in patients treated with SGLT2 inhibitors: a case report
Jae Chan CHOI ; Yo Nam JANG ; Jong Hoon LEE ; Sang Wook PARK ; Jeong A PARK ; Hye Sook KIM ; Jae Won CHOI ; Joo Hyung LEE ; Yong Jae LEE
Korean Journal of Family Medicine 2025;46(3):204-209
Ketone bodies produced by sodium-glucose cotransporter 2 (SGLT2) inhibitors can be advantageous, providing an efficient and stable energy source for the brain and muscles. However, in patients with diabetes, ketogenesis induced by SGLT2 inhibitors may be harmful, potentially resulting in severe diabetic ketoacidosis (DKA). During fasting, ketone body production serves as an alternative and efficient energy source for the brain by utilizing stored fat, promoting mental clarity, and reducing dependence on glucose. The concurrent use of SGLT2 inhibitors during perioperative fasting may further elevate the risk of euglycemic DKA. We describe a case of DKA that occurred during perioperative fasting in a patient receiving empagliflozin, an SGLT2 inhibitor. This case underscores the importance of recognizing the potential risk of DKA in patients with diabetes using SGLT2 inhibitors during perioperative fasting.
9.A customized guide device for single needle arthrocentesis on temporomandibular joint
Jun-Hyung JEON ; Sang-Hee PARK ; Pil-Young YUN ; Jeong-Kui KU
Journal of the Korean Association of Oral and Maxillofacial Surgeons 2025;51(2):95-101
Objectives:
This study aims to evaluate the accuracy and effectiveness of temporomandibular joint (TMJ) arthrocentesis using the three-dimensional (3D)-printed TMJ injection guide in cases of hemarthrosis caused by condyle fractures.
Materials and Methods:
A retrospective chart review was conducted for patients treated with the customized TMJ arthrocentesis guide to address hemarthrosis. Inclusion criteria included adults older than 18 years with condylar fractures not indicated for open reduction and internal fixation. The guide was fabricated using computed tomography or cone-beam computed tomography scans and 3D printing to control the degree and depth of the needle through the guide to aspirate hemarthrosis.
Results:
Six joints from five patients (average age 52.4 years) were treated using the guide. Post-procedural magnetic resonance imaging confirmed complete resolution of hemarthrosis in all cases. A representative case demonstrated successful outcomes with normal healing and no complications at 8 months post-procedure.
Conclusion
The customized TMJ injection guide, using ear-based reference points, significantly enhances the accuracy and safety of TMJ arthrocentesis. This innovation is expected to increase the accessibility and effectiveness of TMJ-related treatments for clinicians without specialized TMJ expertise.
10.Fasting is not always good: perioperative fasting leads to pronounced ketone body production in patients treated with SGLT2 inhibitors: a case report
Jae Chan CHOI ; Yo Nam JANG ; Jong Hoon LEE ; Sang Wook PARK ; Jeong A PARK ; Hye Sook KIM ; Jae Won CHOI ; Joo Hyung LEE ; Yong Jae LEE
Korean Journal of Family Medicine 2025;46(3):204-209
Ketone bodies produced by sodium-glucose cotransporter 2 (SGLT2) inhibitors can be advantageous, providing an efficient and stable energy source for the brain and muscles. However, in patients with diabetes, ketogenesis induced by SGLT2 inhibitors may be harmful, potentially resulting in severe diabetic ketoacidosis (DKA). During fasting, ketone body production serves as an alternative and efficient energy source for the brain by utilizing stored fat, promoting mental clarity, and reducing dependence on glucose. The concurrent use of SGLT2 inhibitors during perioperative fasting may further elevate the risk of euglycemic DKA. We describe a case of DKA that occurred during perioperative fasting in a patient receiving empagliflozin, an SGLT2 inhibitor. This case underscores the importance of recognizing the potential risk of DKA in patients with diabetes using SGLT2 inhibitors during perioperative fasting.

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