Yonsei Medical Journal最新文献

{"title":"Predictive Factors for Increased Bone Density Following Romosozumab Administration Based on Pre-Administration Blood Test Results.","authors":"Akira Kuwabara, Kazuhide Inage, Masaomi Yamashita, Sumihisa Orita, Yawara Eguchi, Yasuhiro Shiga, Masahiro Inoue, Miyako Suzuki-Narita, Takahisa Hishiya, Takahito Arai, Noriyasu Toshi, Kohei Okuyama, Soichiro Tokeshi, Susumu Tashiro, Shuhei Ohyama, Noritaka Suzuki, Seiji Ohtori","doi":"10.3349/ymj.2023.0535","DOIUrl":"10.3349/ymj.2023.0535","url":null,"abstract":"<p><strong>Purpose: </strong>Romosozumab reportedly increases bone density in patients with severe osteoporosis; however, data on its clinical effects are limited. We conducted a multicenter retrospective survey to study the bone density-increasing effects of romosozumab and blood test-based predictive factors in patients with severe osteoporosis, examining its effects in clinical practice.</p><p><strong>Materials and methods: </strong>This was a multicenter retrospective observational study. The subjects were patients with severe osteoporosis who were treated with romosozumab at the participating facilities. The increase in bone density was assessed by comparing bone density changes (as a percentage) in the lumbar spine, femoral neck, and total femur before and 12 months after administration using dual-energy X-ray absorptiometry. The association between changes in bone density at each site and pre-treatment bone metabolism markers (Tracp 5b, P1NP), serum calcium levels, nutritional status [Conut score: albumin, total cholesterol (T-Cho), and total lymphocyte count], and kidney function (eGFR) was assessed.</p><p><strong>Results: </strong>In both naïve patients and those switching from bone resorption inhibitors, the bone density increased significantly. In naïve patients, eGFR were positively associated with bone density in the total femur. In cases of switching from bone resorption inhibitors, correlations were found between Tracp 5b and lumbar spine bone mineral density (BMD), as well as between Tracp 5b, Alb, T-Cho, and eGFR in the total femur BMD.</p><p><strong>Conclusion: </strong>Romosozumab administration significantly increases bone density in osteoporosis, and assessing key predictive factors is necessary to ensure clinical effectiveness.</p>","PeriodicalId":23765,"journal":{"name":"Yonsei Medical Journal","volume":"66 4","pages":"226-232"},"PeriodicalIF":2.6,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143710211","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Pericapsular Nerve Group Block with Periarticular Injection for Pain Management after Total Hip Arthroplasty: A Randomized Controlled Trial.","authors":"Hun Sik Cho, Bo Ra Lee, Hyuck Min Kwon, Jun Young Park, Hyeong Won Ham, Woo-Suk Lee, Kwan Kyu Park, Tae Sung Lee, Yong Seon Choi","doi":"10.3349/ymj.2024.0098","DOIUrl":"10.3349/ymj.2024.0098","url":null,"abstract":"<p><strong>Purpose: </strong>The purpose of this study was to compare the effectiveness of pericapsular nerve group (PENG) block with periarticular multimodal drug injection (PMDI) on postoperative pain management and surgical outcomes in patients who underwent total hip arthroplasty (THA). We hypothesized that PENG block with PMDI would exhibit superior effects on postoperative pain control after THA compared to PMDI alone.</p><p><strong>Materials and methods: </strong>From April 2022 to February 2023, 58 patients who underwent THA were randomly assigned into two groups: PENG block with PMDI group (n=29) and PMDI-only group (n=29). Primary outcomes were postoperative numeric rating scale (NRS) at rest and during activity at 6, 24, and 48 hours postoperatively. Secondary outcomes were postoperative complications (nausea and vomiting), Richards-Campbell Sleep Questionnaire (RCSQ) score, length of hospital stay, Western Ontario and McMaster Universities Osteoarthritis (WOMAC) index, Harris Hip Score (HHS), and total morphine usage after surgery.</p><p><strong>Results: </strong>There was no significant difference in postoperative pain for either resting NRS or active NRS. Postoperative nausea and vomiting, RCSQ score, length of hospital stay, WOMAC index, HHS, and total morphine usage exhibited no significant differences between the two groups.</p><p><strong>Conclusion: </strong>Both groups showed no significant differences in postoperative pain and clinical outcomes, indicating that the addition of PENG block to PMDI does not improve pain management after applying the posterolateral approach of THA. PMDI alone during THA would be an efficient, fast, and safe method for managing postoperative pain. This article was registered with ClinicalTrials. gov (Gov ID: NCT05320913).</p>","PeriodicalId":23765,"journal":{"name":"Yonsei Medical Journal","volume":"66 4","pages":"233-239"},"PeriodicalIF":2.6,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143711465","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Deep Learning-Based Computer-Aided Diagnosis in Coronary Artery Calcium-Scoring CT for Pulmonary Nodule Detection: A Preliminary Study.","authors":"Seung Yun Lee, Ji Weon Lee, Jung Im Jung, Kyunghwa Han, Suyon Chang","doi":"10.3349/ymj.2024.0050","DOIUrl":"10.3349/ymj.2024.0050","url":null,"abstract":"<p><strong>Purpose: </strong>To evaluate the feasibility and utility of deep learning-based computer-aided diagnosis (DL-CAD) for the detection of pulmonary nodules on coronary artery calcium (CAC)-scoring computed tomography (CT).</p><p><strong>Materials and methods: </strong>This retrospective study included 273 patients (aged 63.9±13.2 years; 129 men) who underwent CAC-scoring CT. A DL-CAD system based on thin-section images was used for pulmonary nodule detection, and two independent junior readers reviewed the standard CAC-scoring CT scans with and without referencing DL-CAD results. A reference standard was established through the consensus of two experienced radiologists. Sensitivity, positive predictive value, and F1-score were assessed on a per-nodule and per-patient basis. The patients' medical records were monitored until November 2023.</p><p><strong>Results: </strong>A total of 269 nodules were identified in 129 patients. With DL-CAD assistance, the readers' sensitivity significantly improved (65% vs. 80% for reader 1; 82% vs. 86% for reader 2; all <i>p</i><0.001), without a notable increase in the number of false-positives per case (0.11 vs. 0.13, <i>p</i>=0.078 for reader 1; 0.11 vs. 0.11, <i>p</i>>0.999 for reader 2). Per-patient analysis also enhanced sensitivity with DL-CAD assistance (73% vs. 84%, <i>p</i><0.001 for reader 1; 89% vs. 91%, <i>p</i>=0.250 for reader 2). During follow-up, lung cancer was diagnosed in four patients (1.5%). Among them, two had lesions detected on CAC-scoring CT, both of which were successfully identified by DL-CAD.</p><p><strong>Conclusion: </strong>DL-CAD based on thin-section images can assist less experienced readers in detecting pulmonary nodules on CAC-scoring CT scans, improving detection sensitivity without significantly increasing false-positives.</p>","PeriodicalId":23765,"journal":{"name":"Yonsei Medical Journal","volume":"66 4","pages":"240-248"},"PeriodicalIF":2.6,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143711458","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Effect of the Administration of Cautionary Drugs on the Risk of Worsening Myasthenia Gravis: A Retrospective Matched Case-Control Study.","authors":"Hee Jo Han, Seung Woo Kim, Myeongjee Lee, Hye Rim Kim, Yun Ho Roh, Ha Young Shin","doi":"10.3349/ymj.2024.0017","DOIUrl":"10.3349/ymj.2024.0017","url":null,"abstract":"<p><strong>Purpose: </strong>Although some medications trigger the worsening of myasthenia gravis (MG), their clinical influence on patients with MG has not been significantly evaluated. We aimed to investigate whether the risk of clinical worsening of MG increases after administering cautionary drugs in patients with MG.</p><p><strong>Materials and methods: </strong>This retrospective case-control study was based on the medical records of patients diagnosed with MG between 2007 and 2020. We analyzed the risk of MG worsening in patients exposed to cautionary drugs during the risk period, defined as 6 months from the first exposure to cautionary drugs. The risk of MG worsening in the exposed patients was compared to that in the non-exposed patients, who were individually matched in a 1:1 ratio with exposed cases for sex, age, thymoma, and autoantibodies.</p><p><strong>Results: </strong>Of the 2002 patients diagnosed with MG, 552 (27.6%) were exposed to cautionary drugs. Neuromuscular blocking agents (320 patients) and beta blockers (66123 person-days) were the most frequently prescribed medications. After exact matching, 220 exposed and 220 non-exposed patients were enrolled. The incidence rate of clinical worsening during the risk period was significantly higher in the exposed patients than in the non-exposed patients (odds ratio=4.09; 95% confidence interval, 1.88-8.90; <i>p</i><0.001). Clinical worsening was observed in 31 (14.1%) of the exposed patients and in 8 (3.6%) of the non-exposed patients.</p><p><strong>Conclusion: </strong>The administration of cautionary drugs increased the risk of clinical worsening in patients with MG. Clinicians should be aware of this risk when cautionary drugs need to be administered.</p>","PeriodicalId":23765,"journal":{"name":"Yonsei Medical Journal","volume":"66 4","pages":"218-225"},"PeriodicalIF":2.6,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143711460","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prospective Evaluation of Various Ultrasound Parameters for Assessing Renal Allograft Rejection Subtypes: Elasticity and Dispersion as Diagnostic Tools.","authors":"Yeji Kwon, Jongjin Yoon, Dae Chul Jung, Young Taik Oh, Kyunghwa Han, Minsun Jung, Byung Chul Kang","doi":"10.3349/ymj.2024.0082","DOIUrl":"10.3349/ymj.2024.0082","url":null,"abstract":"<p><strong>Purpose: </strong>Renal allograft rejection, either acute or chronic, is prevalent among many recipients. This study aimed to identify multiple Doppler ultrasound parameters for predicting renal allograft rejection.</p><p><strong>Materials and methods: </strong>Between November 2021 and April 2022, 61 renal allograft recipients were studied prospectively after excluding two patients with dual transplants and seven with hydronephrosis. The analysis excluded 11 cases (10 due to missing Doppler data or pathology reports and one due to a high interquartile range/median dispersion value), resulting in a final analysis of 50 patients. Clinical characteristics, color Doppler imaging, superb microvascular imaging, and shear-wave imaging parameters were assessed by three experienced genitourinary radiologists. The Banff classification of the biopsy tissue served as the reference standard. Univariable and multivariable logistic regression, contingency matrices, and multiple machine-learning models were employed to estimate the associations.</p><p><strong>Results: </strong>Fifty kidney transplant recipients (mean age, 53.26±8.86 years; 29 men) were evaluated. Elasticity (≤14.8 kPa) demonstrated significant associations for predicting the combination of (borderline) T cell-mediated rejection (TCMR) categories (Banff categories 3 and 4) (<i>p</i>=0.006) and yielded equal or higher area under the receiver operating characteristics curve (AUC) values compared to various classifiers. Dispersion (>15.0 m/s/kHz) was the only significant factor for predicting the combination of non-TCMR categories (Banff categories 2, 5, and 6) (<i>p</i>=0.026) and showed equal or higher AUC values than multiple machine learning classifiers.</p><p><strong>Conclusion: </strong>Elasticity (≤14.8 kPa) showed a significant association with the combination of (borderline) TCMR categories, whereas dispersion (>15.0 m/s/kHz) was significantly associated with the combination of non-TCMR categories in renal allografts.</p>","PeriodicalId":23765,"journal":{"name":"Yonsei Medical Journal","volume":"66 4","pages":"249-258"},"PeriodicalIF":2.6,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143710451","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Comparative Evaluation of Pre-Test Probability Models for Coronary Artery Disease with Assessment of a New Machine Learning-Based Model.","authors":"Kyung-A Kim, Min Soo Kang, Byoung Geol Choi, Ji Hun Ahn, Wonho Kim, Myung-Ae Chung","doi":"10.3349/ymj.2024.0067","DOIUrl":"10.3349/ymj.2024.0067","url":null,"abstract":"<p><strong>Purpose: </strong>This study aimed to validate pivotal pre-test probability (PTP)-coronary artery disease (CAD) models (CAD consortium model and IJC-CAD model).</p><p><strong>Materials and methods: </strong>Traditional PTP models-CAD consortium models: two traditional PTP models were used under the CAD consortium framework, namely CAD1 and CAD2. Machine learning (ML)-based PTP models: two ML-based PTP models were derived from CAD1 and CAD2, and used to enhance predictive capabilities [ML-CAD2 and ML-IJC (IJC-CAD)]. The primary endpoint was obstructive CAD. The performance evaluation of these PTP models was conducted using receiver-operating characteristic analysis.</p><p><strong>Results: </strong>The study included 238 participants, among whom 157 individuals (65.9% of the total sample) had CAD. The IJC-CAD model demonstrated the highest performance with an area under the curve (AUC) of 0.860 [95% confidence interval (CI): 0.812-0.909]. Following this, the ML-CAD2 model exhibited an AUC of 0.814 (95% CI: 0.758-0.870), CAD1 showed an AUC of 0.767 (95% CI: 0.705-0.830), and CAD2 had an AUC of 0.785 (95% CI: 0.726-0.845). Each of the PTP models was adjusted to have a CAD score cutoff that classified cases with a sensitivity of over 95%. The respective cutoff values were as follows: CAD1 and CAD2 >12, ML-CAD2 >0.380, and IJC-CAD >0.367. All PTP models achieved a CAD sensitivity of over 95%. Similar to the AUC performance, the accuracy of the PTP models was highest for IJC-CAD, reaching 80.3%. The accuracy of ML-CAD2 was 77.7%, while that for CAD1 and CAD2 was 74.8% and 75.2%, respectively.</p><p><strong>Conclusion: </strong>ML-CAD2 and IJC-CAD showed superior performance compared to traditional existing models (CAD1 and CAD2).</p>","PeriodicalId":23765,"journal":{"name":"Yonsei Medical Journal","volume":"66 4","pages":"211-217"},"PeriodicalIF":2.6,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143711456","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Navigating the Interconnected Web of Health: A Comprehensive Review of the One Health Paradigm and Its Implications for Disease Management.","authors":"Andrea Hernandez, Jaehyun Lee, Hojeong Kang","doi":"10.3349/ymj.2024.0108","DOIUrl":"10.3349/ymj.2024.0108","url":null,"abstract":"<p><p>Disease outbreaks pose serious threats to humans, as highlighted by the recent pandemic, underscoring the need for an institutionalized multi-sectoral approach like One Health, encompassing human, animal, and environmental health. One Health has demonstrated efficacy in addressing emerging issues such as antimicrobial resistance and zoonotic disease spillover. While integrating the human-animal sector has yielded positive outcomes, the majority of zoonotic spillovers originate from wildlife, emphasizing the crucial role of environmental surveillance within global One Health systems. Additionally, climate change intensifies the frequency and emergence of infectious diseases and spillover events. Tackling the complexity and interconnectedness of health challenges necessitates integrated solutions that incorporate broader structural factors, aiding in the prevention, detection, and mitigation of disease outbreaks. Embracing One Health through multi-sectoral preparedness can effectively confront the escalating threats of pandemics and other emerging diseases.</p>","PeriodicalId":23765,"journal":{"name":"Yonsei Medical Journal","volume":"66 4","pages":"203-210"},"PeriodicalIF":2.6,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143711463","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Non-Inferiority Analysis of Electrocardiography Analysis Application vs. Point-of-Care Ultrasound for Screening Left Ventricular Dysfunction.","authors":"Jin Hee Kim, Jae Yun Jung, Joonghee Kim, Youngjin Cho, Eunkyoung Lee, Dahyeon Son","doi":"10.3349/ymj.2024.0148","DOIUrl":"10.3349/ymj.2024.0148","url":null,"abstract":"<p><strong>Purpose: </strong>Point-of-care ultrasound (POCUS) is widely used for heart function evaluation in emergency departments (EDs), but requires specific equipment and skilled operators. This study evaluates the diagnostic accuracy of a mobile application for estimating left ventricular (LV) systolic dysfunction [left ventricular ejection fraction (LVEF) <40%] using electrocardiography (ECG) and tests its non-inferiority to POCUS.</p><p><strong>Materials and methods: </strong>Patients (aged ≥20 years) were included if they had both a POCUS-based EF evaluation and an ECG within 24 hours of their ED visit between January and May 2022, along with formal echocardiography within 2 weeks before or after the visit. A mobile app (ECG Buddy, EB) estimated LVEF (EF from EB) and the risk of LV dysfunction (LV-Dysfunction score) from ECG waveforms, which were compared to NT-proBNP levels and POCUS-evaluated LVEF (EF from POCUS). A non-inferiority margin was set at an area under the curve (AUC) difference of 0.05.</p><p><strong>Results: </strong>Of the 181 patients included, 37 (20.4%) exhibited LV dysfunction. The AUCs for screening LV dysfunction using POCUS and NT-proBNP were 0.885 and 0.822, respectively. EF from EB and LV-Dysfunction score outperformed NT-proBNP, with AUCs of 0.893 and 0.884, respectively (<i>p</i>=0.017 and <i>p</i>=0.030, respectively). EF from EB was non-inferior to EF from POCUS, while LV-Dysfunction score narrowly missed the mark. A subgroup analysis of sinus-origin rhythm ECGs supported the non-inferiority of both EF from EB and LV-Dysfunction score to EF from POCUS.</p><p><strong>Conclusion: </strong>A smartphone application that analyzes ECG image can screen for LV dysfunction with a level of accuracy comparable to that of POCUS.</p>","PeriodicalId":23765,"journal":{"name":"Yonsei Medical Journal","volume":"66 3","pages":"172-178"},"PeriodicalIF":2.6,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11865871/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143504570","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Digital Phenotyping of Rare Endocrine Diseases Across International Data Networks and the Effect of Granularity of Original Vocabulary.","authors":"Seunghyun Lee, Namki Hong, Gyu Seop Kim, Jing Li, Xiaoyu Lin, Sarah Seager, Sungjae Shin, Kyoung Jin Kim, Jae Hyun Bae, Seng Chan You, Yumie Rhee, Sin Gon Kim","doi":"10.3349/ymj.2023.0628","DOIUrl":"10.3349/ymj.2023.0628","url":null,"abstract":"<p><strong>Purpose: </strong>Rare diseases occur in <50 per 100000 people and require lifelong management. However, essential epidemiological data on such diseases are lacking, and a consecutive monitoring system across time and regions remains to be established. Standardized digital phenotypes are required to leverage an international data network for research on rare endocrine diseases. We developed digital phenotypes for rare endocrine diseases using the observational medical outcome partnership common data model.</p><p><strong>Materials and methods: </strong>Digital phenotypes of three rare endocrine diseases (medullary thyroid cancer, hypoparathyroidism, pheochromocytoma/paraganglioma) were validated across three databases that use different vocabularies: Severance Hospital's electronic health record from South Korea; IQVIA's United Kingdom (UK) database for general practitioners; and IQVIA's United States (US) hospital database for general hospitals. We estimated the performance of different digital phenotyping methods based on International Classification of Diseases (ICD)-10 in the UK and the US or systematized nomenclature of medicine clinical terms (SNOMED CT) in Korea.</p><p><strong>Results: </strong>The positive predictive value of digital phenotyping was higher using SNOMED CT-based phenotyping than ICD-10-based phenotyping for all three diseases in Korea (e.g., pheochromocytoma/paraganglioma: ICD-10, 58%-62%; SNOMED CT, 89%). Estimated incidence rates by digital phenotyping were as follows: medullary thyroid cancer, 0.34-2.07 (Korea), 0.13-0.30 (US); hypoparathyroidism, 0.40-1.20 (Korea), 0.59-1.01 (US), 0.00-1.78 (UK); and pheochromocytoma/paraganglioma, 0.95-1.67 (Korea), 0.35-0.77 (US), 0.00-0.49 (UK).</p><p><strong>Conclusion: </strong>Our findings demonstrate the feasibility of developing digital phenotyping of rare endocrine diseases and highlight the importance of implementing SNOMED CT in routine clinical practice to provide granularity for research.</p>","PeriodicalId":23765,"journal":{"name":"Yonsei Medical Journal","volume":"66 3","pages":"187-194"},"PeriodicalIF":2.6,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11865875/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143504531","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Therapeutic Approach to Epilepsy in Patients with Mitochondrial Diseases.","authors":"Ji-Hoon Na, Young-Mock Lee","doi":"10.3349/ymj.2024.0325","DOIUrl":"10.3349/ymj.2024.0325","url":null,"abstract":"<p><p>Mitochondrial diseases (MDs) are genetic disorders with diverse phenotypes that affect high-energy-demand organs, notably the central nervous system and muscles. Epilepsy is a common comorbidity, affecting 40%-60% of patients with MDs and significantly reducing their quality of life. This review discusses the different treatment modalities for epilepsy in patients with MDs. Advances in genetic sequencing have identified specific mutations in mitochondrial and nuclear DNA, enabling more precise diagnoses and tailored therapeutic strategies. Anti-seizure medications and dietary interventions, such as ketogenic diets and their variants, have been effective in reducing seizures and improving mitochondrial function. Emerging treatments include gene therapy, mitochondrial transplantation, and antioxidants such as EPI-743, which protect mitochondrial integrity and improve neurological function. Additionally, therapies that promote mitochondrial biogenesis, such as bezafibrate and epicatechin, are being explored for their potential to enhance mitochondrial proliferation and energy production. Gene therapy aims to correct genetic defects underlying MDs. Techniques like mitochondrial gene replacement and using viral vectors to deliver functional genes have shown promise in preclinical studies. Mitochondrial transplantation, an emerging experimental technique, involves transferring healthy mitochondria into cells with dysfunctional mitochondria. This technique has been demonstrated to restore mitochondrial function and energy metabolism in preclinical models. Patient-derived induced pluripotent stem cells can model specific mitochondrial dysfunctions in vitro, allowing for the testing of various treatments tailored to individual genetic and biochemical profiles. The future of mitochondrial medicine is promising, with the development of more targeted and personalized therapeutic strategies offering hope for improved management and prognosis of mitochondrial epilepsy.</p>","PeriodicalId":23765,"journal":{"name":"Yonsei Medical Journal","volume":"66 3","pages":"131-140"},"PeriodicalIF":2.6,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11865870/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143504574","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}