William D Kim, Min Jae Cha, Subin Kim, Dong-Gil Kim, Jae-Jin Kwak, Sung Woo Cho, Joon Hyung Doh, Sung Uk Kwon, June Namgung, Sung Yun Lee, Jiwon Seo, Geu-Ru Hong, Ji-Won Hwang, Iksung Cho
{"title":"Clinical Manifestations and Adverse Cardiovascular Events in Patients with Cardiovascular Symptoms after mRNA Coronavirus Disease 2019 Vaccines.","authors":"William D Kim, Min Jae Cha, Subin Kim, Dong-Gil Kim, Jae-Jin Kwak, Sung Woo Cho, Joon Hyung Doh, Sung Uk Kwon, June Namgung, Sung Yun Lee, Jiwon Seo, Geu-Ru Hong, Ji-Won Hwang, Iksung Cho","doi":"10.3349/ymj.2023.0354","DOIUrl":"10.3349/ymj.2023.0354","url":null,"abstract":"<p><strong>Purpose: </strong>The number of patients presenting with vaccination-related cardiovascular symptoms after receiving mRNA vaccines (mRNA-VRCS) is increasing. We investigated the incidence of vaccine-related adverse events (VAEs), including myocarditis and pericarditis, in patients with mRNA-VRCS after receiving BNT162b2-Pfizer-BioNTech and mRNA-1273-Moderna vaccines.</p><p><strong>Materials and methods: </strong>We retrospectively collected data on patients presenting with mRNA-VRCS who visited the outpatient clinic of two tertiary medical centers. Clinical characteristics, laboratory findings, echocardiographic findings, and electrocardiographic findings were evaluated. VAE was defined as myocarditis or pericarditis in patients after mRNA vaccination. Clinical outcomes during short-term follow-up, including emergency room (ER) visit, hospitalization, or death, were also assessed among the patients.</p><p><strong>Results: </strong>A total of 952 patients presenting with mRNA-VRCS were included in this study, with 89.7% receiving Pfizer-BioNTech and 10.3% receiving Moderna vaccines. The mean duration from vaccination to symptom was 5.6±7.5 days. VAEs, including acute myocarditis and acute pericarditis, were confirmed in 11 (1.2%) and 10 (1.1%) patients, respectively. The VAE group showed higher rates of dyspnea, echocardiography changes, and ST-T segment changes. During the short-term follow-up period of 3 months, the VAE group showed a higher hospitalization rate compared to the control group; there was no significant difference in ER visit (<i>p</i>=0.320) or mortality rates (<i>p</i>>0.999).</p><p><strong>Conclusion: </strong>Amongst the patients who experienced mRNA-VRCS, the total incidence of VAEs, including acute myocarditis and pericarditis, was 2.2%. Patients with VAEs showed higher rates of dyspnea, echocardiographic changes, and ST-T segment changes compared to those without VAEs. With or without the cardiovascular events, the prognosis in patients with mRNA-VRCS was favorable.</p>","PeriodicalId":23765,"journal":{"name":"Yonsei Medical Journal","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11519129/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142509227","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}
Jihye Park, Hyun-Soo Zhang, Chung Mo Nam, Joo Sung Kim, Young-Ho Kim, Dong Il Park, Byong Duk Ye, Yoon Tae Jeen, Sehyun Kim, Jae Hee Cheon
{"title":"Development and Assessment of a Novel Ulcerative Colitis-Specific Quality of Life Questionnaire: A Prospective, Multi-Institutional Study.","authors":"Jihye Park, Hyun-Soo Zhang, Chung Mo Nam, Joo Sung Kim, Young-Ho Kim, Dong Il Park, Byong Duk Ye, Yoon Tae Jeen, Sehyun Kim, Jae Hee Cheon","doi":"10.3349/ymj.2023.0503","DOIUrl":"10.3349/ymj.2023.0503","url":null,"abstract":"<p><strong>Purpose: </strong>Interest in the quality of life (QoL) of patients with inflammatory bowel disease (IBD) has recently increased. Although measurement tools have been devised for IBD in general, there is no specific tool for measuring the QoL of patients with ulcerative colitis (UC). Therefore, we developed a QoL questionnaire specifically for patients with UC.</p><p><strong>Materials and methods: </strong>The Korean Ulcerative Colitis-Specific Questionnaire (K-UCSQ) was developed through item generation, raw-scale construction, focus group meetings, and multi-center field tests. Two hundred patients with UC were recruited for a field test of the K-UCSQ, and subsequent responses to the Inflammatory Bowel Disease Questionnaire (IBDQ) were also obtained. After performing factor analyses to ensure construct validity, the K-UCSQ was finalized as a four-domain, 28-item questionnaire. Subsequent analyses evaluated the reliability of the K-UCSQ in terms of Cronbach's alpha, concurrent validity in comparison with the pre-established IBDQ, and predictive validity of the area under the ROC curve (AUC) for clinically relevant QoL outcomes.</p><p><strong>Results: </strong>A Cronbach's alpha of 0.94 showed excellent reliability. Furthermore, correlation analyses demonstrated the concurrent validity of the K-UCSQ in comparison with the IBDQ. The K-UCSQ also showed high validity in predicting the perceived overall health (AUC of 0.812 vs. 0.797 using the IBDQ) and past 2-week QoL (AUC of 0.864 vs. 0.859 using the IBDQ).</p><p><strong>Conclusion: </strong>The newly developed K-UCSQ is concise, bathroom problem-emphasizing, and UC-specific, suggesting that it could be a valid and reliable UC-specific instrument for QoL measurement.</p>","PeriodicalId":23765,"journal":{"name":"Yonsei Medical Journal","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11519135/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142509228","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}
Boeun Lee, Na-Young Shin, Chang-Hyun Park, Yoonho Nam, Soo Mee Lim, Kook Jin Ahn
{"title":"Spatial Similarity of MRI-Visible Perivascular Spaces in Healthy Young Adult Twins.","authors":"Boeun Lee, Na-Young Shin, Chang-Hyun Park, Yoonho Nam, Soo Mee Lim, Kook Jin Ahn","doi":"10.3349/ymj.2023.0581","DOIUrl":"10.3349/ymj.2023.0581","url":null,"abstract":"<p><strong>Purpose: </strong>This study aimed to determine whether genetic factors affect the location of dilated perivascular spaces (dPVS) by comparing healthy young twins and non-twin (NT) siblings.</p><p><strong>Materials and methods: </strong>A total of 700 healthy young adult twins and NT siblings [138 monozygotic (MZ) twin pairs, 79 dizygotic (DZ) twin pairs, and 133 NT sibling pairs] were collected from the Human Connectome Project dataset. dPVS was automatically segmented and normalized to standard space. Then, spatial similarity indices [mean squared error (MSE), structural similarity (SSIM), and dice similarity (DS)] were calculated for dPVS in the basal ganglia (BGdPVS) and white matter (WMdPVS) between paired subjects before and after propensity score matching of dPVS volumes between groups. Within-pair correlations for the regional volumes of dVPS were also assessed using the intraclass correlation coefficient.</p><p><strong>Results: </strong>The spatial similarity of dPVS was significantly higher in MZ twins [higher DS (median, 0.382 and 0.310) and SSIM (0.963 and 0.887) and lower MSE (0.005 and 0.005) for BGdPVS and WMdPVS, respectively] than in DZ twins [DS (0.121 and 0.119), SSIM (0.941 and 0.868), and MSE (0.010 and 0.011)] and NT siblings [DS (0.106 and 0.097), SSIM (0.924 and 0.848), and MSE (0.016 and 0.017)]. No significant difference was found between DZ twins and NT siblings. Similar results were found even after the subjects were matched according to dPVS volume. Regional dPVS volumes were also more correlated within pairs in MZ twins than in DZ twins and NT siblings.</p><p><strong>Conclusion: </strong>Our results suggest that genetic factors affect the location of dPVS.</p>","PeriodicalId":23765,"journal":{"name":"Yonsei Medical Journal","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11519134/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142509233","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}
Taejun Yoon, Sung Soo Ahn, Jang Woo Ha, Eunhee Ko, Jason Jungsik Song, Yong-Beom Park, Sang-Won Lee
{"title":"Serum Soluble Receptors for Advanced Glycation End-Products May Predict Mortality in Microscopic Polyangiitis and Granulomatosis with Polyangiitis.","authors":"Taejun Yoon, Sung Soo Ahn, Jang Woo Ha, Eunhee Ko, Jason Jungsik Song, Yong-Beom Park, Sang-Won Lee","doi":"10.3349/ymj.2023.0466","DOIUrl":"10.3349/ymj.2023.0466","url":null,"abstract":"<p><strong>Purpose: </strong>This study aimed to investigate whether the serum extracellular newly identified receptor for advanced glycation end products binding protein (EN-RAGE) and the soluble form of RAGE (sRAGE) measured at diagnosis are associated with all-cause mortality in patients with microscopic polyangiitis (MPA) and granulomatosis with polyangiitis (GPA).</p><p><strong>Materials and methods: </strong>Serum EN-RAGE and sRAGE were measured in 75 immunosuppressive drug-naïve MPA and GPA patients using an immunoassay, with their clinical and laboratory data reviewed. The optimal cut-off point of EN-RAGE and sRAGE was calculated by finding the threshold with the maximum sum of sensitivity and specificity. In addition, the least absolute shrinkage and selection operator regression was adopted to select variables included in the multivariable Cox proportional hazards (PH) regression model.</p><p><strong>Results: </strong>The median age of the patients was 67.0 years, and 34% were male. Neither serum EN-RAGE nor sRAGE at diagnosis was correlated with the Birmingham Vasculitis Activity Score. Furthermore, no correlation was observed between serum EN-RAGE and sRAGE. Deceased patients had significantly lower serum EN-RAGE and higher serum sRAGE at diagnosis compared to surviving patients. Patients with serum EN-RAGE at diagnosis ≤84.37 ng/mL and serum sRAGE at diagnosis ≥1.82 ng/mL showed significantly lower survival probabilities compared to those without. In multivariable Cox PH regression model, only serum sRAGE at diagnosis ≥1.82 ng/mL, rather than serum EN-RAGE at diagnosis ≤84.37 ng/mL, was independently associated with all-cause mortality (hazard ratio 7.094).</p><p><strong>Conclusion: </strong>This study is the first to demonstrate that serum sRAGE at diagnosis may independently predict all-cause mortality during follow-up in patients with MPA and GPA.</p>","PeriodicalId":23765,"journal":{"name":"Yonsei Medical Journal","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11519131/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142509232","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}
Jongchan Kim, Won Sik Ham, Jee Soo Park, Won Sik Jang
{"title":"Incidence and Pattern of Recurrence after Surgical Resection in Organ-Confined Renal Cell Carcinoma.","authors":"Jongchan Kim, Won Sik Ham, Jee Soo Park, Won Sik Jang","doi":"10.3349/ymj.2023.0587","DOIUrl":"10.3349/ymj.2023.0587","url":null,"abstract":"<p><strong>Purpose: </strong>To evaluate the incidence and pattern of recurrence after surgery in patients with organ-confined renal cell carcinoma (RCC) to establish an appropriate follow-up plan.</p><p><strong>Materials and methods: </strong>In this retrospective study, we evaluated data from 2960 patients who underwent radical or partial nephrectomy for stage 1 or 2 RCC. We investigated the location of first recurrence and recurrence-free survival (RFS) by plotting Kaplan-Meier curves and analyzed the associated variables using Cox regression analysis.</p><p><strong>Results: </strong>During a median follow-up of 59 months, the 10-year RFS rates were 94.5%, 75.0%, and 57.9%, for T1a, T1b, and T2 RCC, respectively. A total of 211 patients experienced recurrence: 67 after 5 years, and 14 after 10 years. The most common sites of the first recurrence were the lungs, bones, and contralateral kidneys. Male sex, older age, higher pathologic T stage, higher nuclear grade, clear-cell RCC, and presence of differentiation were associated with recurrence. Among patients followed up for more than 60 months, higher pathologic T stage and grade, as well as clear cell RCC were predictors of RFS.</p><p><strong>Conclusion: </strong>Late recurrence after surgery is common in patients with organ-confined RCC, with recurrence occurring even after 10 years. Consequently, long-term follow-up, of perhaps 10 years or more, including imaging studies of the abdomen, lungs, and bone, should be considered for the early detection of recurrence.</p>","PeriodicalId":23765,"journal":{"name":"Yonsei Medical Journal","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11519136/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142509230","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":"Elder Abuse in Association with Depression and Suicidal Ideation among Community-Dwelling Elderly in Korea.","authors":"Jong-Il Park","doi":"10.3349/ymj.2023.0613","DOIUrl":"10.3349/ymj.2023.0613","url":null,"abstract":"<p><p>There has been limited research on the association between elder abuse and depression, as well as elder abuse and suicidal ideation concurrently. Therefore, the present study aimed to investigate this association using the dataset from a nationally representative elderly sample in Korea. This study analyzed the dataset from the 2020 National Survey of Older Koreans. Elderly participants (aged over 65 years, n=9920) were included. Multivariate regression analysis was utilized to explore the risk factors associated with depression and suicidal ideation in the context of elder abuse. In this study, 5.1% of the elderly reported having elder abuse in the past year, while 12.8% and 1.9% reported having depression and suicidal ideation, respectively. In addition, among the elderly with depression, 8.4% had experienced elder abuse, while among those reporting suicidal ideation, 17.6% had suffered from elder abuse. Multiple logistic regression revealed that elder abuse is independently associated with both depression [odds ratio (OR) for elder abuse=1.642] and suicidal ideation (OR for elder abuse=3.237). Besides elder abuse, poor subjective health status and poor social support were linked to higher risk of depression and suicidal ideation. Our findings revealed that elder abuse represented a substantial risk factor associated with both depression and suicidal ideation. Implementing preventive interventions to address these risk factors could have significant implications for public mental health.</p>","PeriodicalId":23765,"journal":{"name":"Yonsei Medical Journal","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11519133/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142509229","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}
Young-Eun Kim, Soo Min Ahn, Ji Seon Oh, Seokchan Hong, Chang-Keun Lee, Bin Yoo, Yong-Gil Kim
{"title":"Prevalence and Risk Factors of COVID-19 Reinfection in Patients with Rheumatoid Arthritis: A Retrospective Observational Study.","authors":"Young-Eun Kim, Soo Min Ahn, Ji Seon Oh, Seokchan Hong, Chang-Keun Lee, Bin Yoo, Yong-Gil Kim","doi":"10.3349/ymj.2023.0585","DOIUrl":"10.3349/ymj.2023.0585","url":null,"abstract":"<p><strong>Purpose: </strong>To identify the prevalence and risk factors of coronavirus disease 2019 (COVID-19) reinfection in patients with rheumatoid arthritis (RA).</p><p><strong>Materials and methods: </strong>This study retrospectively analyzed patients with RA with a documented COVID-19 infection between January 2021 and December 2022 at a tertiary hospital in Seoul, South Korea. Reinfection was defined as a subsequent positive test result for severe acute respiratory syndrome coronavirus 2 at least 3 months after the initial infection. Cox proportional hazards models with backward elimination were employed to assess the association between potential risk factors and risk of reinfection.</p><p><strong>Results: </strong>Of 351 included patients with RA {female, 81.5%; median age, 58.0 years [interquartile range (IQR), 48.0-66.0]}, 252 (71.8%) were treated with methotrexate and 12 (3.4%) received leflunomide during the initial infection. Over a median follow-up of 1.5 (IQR, 1.1-1.6) years, 43 (12.3%) patients experienced reinfection, equating to an incidence rate of 8.97 per 100 patient-years. The median time interval between infections was 0.8 (IQR, 0.6-1.2) years. Among the risk factors, leflunomide use showed a significant association with reinfection (hazard ratio, 2.968; 95% confidence interval, 1.057-8.335; <i>p</i>=0.039). However, no significant changes occurred in disease activity following reinfection [disease activity score using 28 joints: baseline median, 2.3 (IQR, 1.9-2.8); post-reinfection median, 2.3 (IQR, 1.8-2.6), <i>p</i> for change=0.895].</p><p><strong>Conclusion: </strong>In this retrospective cohort study of patients with RA with COVID-19 infection, approximately 12% of patients experienced reinfection without significant change in disease activity. Leflunomide use was associated with a higher risk of reinfection.</p>","PeriodicalId":23765,"journal":{"name":"Yonsei Medical Journal","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11519132/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142509231","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":"Association of the COVID-19 Pandemic with HbA1c Testing and Complication Screening in Patients with Diabetes Mellitus.","authors":"Jieun Jang, Doo Woong Lee, Junghwan Suh, Jaeyong Shin","doi":"10.3349/ymj.2023.0241","DOIUrl":"10.3349/ymj.2023.0241","url":null,"abstract":"<p><strong>Purpose: </strong>This study aimed to identify the association between coronavirus disease 2019 (COVID-19) transmission levels and undergoing glycated hemoglobin (HbA1c) test and complication screenings among patients with diabetes mellitus.</p><p><strong>Materials and methods: </strong>We included a total of 3601 diabetes patients' data from the 2020 Korean Community Health Survey to analyze the extent of the HbA1c testing and fundus examination, and 3592 diabetes patients' data to analyze kidney disease screening. COVID-19 transmission levels were classified into low transmission (Busan, Gwangju, Daejeon, Ulsan, and Sejong) and high transmission (Daegu, where the first large outbreak of COVID-19 occurred in Korea). Multiple logistic regression was used to obtain adjusted odds ratio (ORs) and 95% confidence interval (CI) to determine the association of COVID-19 transmission levels with undergoing HbA1c testing and diabetes complication screening.</p><p><strong>Results: </strong>The proportion of subjects who underwent complication screening of diabetes was lower in the high transmission region (low transmission vs. high transmission: 42.3% vs. 38.0% for fundus examination; 48.9% vs. 45.7% for kidney disease screening). A high COVID-19 transmission level was associated with decreased odds of undergoing fundus examination (OR, 0.82; 95% CI, 0.69-0.98) and kidney disease screening (OR, 0.76; 95% CI, 0.63-0.91). However, COVID-19 transmission levels were not significantly associated with undergoing HbA1c testing.</p><p><strong>Conclusion: </strong>A high level of COVID-19 transmission was associated with a decrease in undergoing fundus examination and kidney disease screening. To fully realize the potential benefit of diabetes complication screenings, further effort is required to identify and address challenges to obtaining these screenings, especially in outbreak regions.</p>","PeriodicalId":23765,"journal":{"name":"Yonsei Medical Journal","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11519130/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142509226","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}
Soo-Hyun Kim, Chung Seok Lee, Sung Rok Lee, Young-Chul Choi, Seung Woo Kim, Ha Young Shin, Hyung Jun Park
{"title":"Diagnostic Journey of Korean Patients with Spinal Muscular Atrophy.","authors":"Soo-Hyun Kim, Chung Seok Lee, Sung Rok Lee, Young-Chul Choi, Seung Woo Kim, Ha Young Shin, Hyung Jun Park","doi":"10.3349/ymj.2023.0557","DOIUrl":"10.3349/ymj.2023.0557","url":null,"abstract":"<p><strong>Purpose: </strong>Spinal muscular atrophy (SMA) is an autosomal recessive genetic disease characterized by the loss of motor neurons in the spinal cord and brainstem, leading to muscle atrophy and weakness. To understand the diagnostic process of Korean patients with SMA, we analyzed their clinical characteristics and challenges.</p><p><strong>Materials and methods: </strong>We conducted a retrospective study of 38 patients with SMA (9 type II and 29 type III) between January 2000 and September 2023. Clinical, laboratory, and genetic data were reviewed.</p><p><strong>Results: </strong>The median ages at symptom onset and diagnosis were 3.0 years [interquartile range (IQR): 1.0-7.3 years] and 25.0 years (IQR: 10.5-37.3 years), respectively. The median diagnostic delay was 19.6 years (IQR: 6.4-31.0 years). A significantly longer delay was observed in SMA type III patients (median: 21.0 years, IQR: 11.0-31.0 years) compared to SMA type II patients (median: 3.0 years, IQR: 0.9-21.0 years) (<i>p</i>=0.021). No significant difference was observed in the number of clinic visits before diagnosis between patients with SMA type II (median: 2.0, IQR: 1.0-4.5) and those with type III (median: 2.0, IQR: 2.0-6.0, <i>p</i>=0.282). The number of clinic visits before diagnosis showed no significant association with the age at symptom onset and diagnosis (<i>p</i>=0.998 and 0.291, respectively).</p><p><strong>Conclusion: </strong>Our investigation is the first examination of the diagnostic journey of Korean patients with SMA. As treatments for SMA progress, the significance of an accurate diagnosis has increased, highlighting the importance of reviewing the diagnostic advancements made thus far.</p>","PeriodicalId":23765,"journal":{"name":"Yonsei Medical Journal","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11427128/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142308648","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":"Gene Therapy for Cardiovascular Disease: Clinical Perspectives.","authors":"Young Shin Lee, Jung Ran Choi, Jin-Bae Kim","doi":"10.3349/ymj.2024.0127","DOIUrl":"10.3349/ymj.2024.0127","url":null,"abstract":"<p><p>Cardiovascular disease (CVD) stands as one of the leading causes of death in the United States, with its prevalence steadily on the rise. Traditional therapeutic approaches, such as pharmacological treatment, cardiovascular intervention, and surgery, have inherent limitations. In response to these challenges, cardiac gene therapy has emerged as a promising alternative for treating CVD patients. However, several obstacles persist, including the low efficiency of gene transduction, immune reactions to vectors or transduced cells, and the occurrence of off-target effects. While preclinical research has demonstrated significant success in various CVD model in both small and large animals, the translation of these findings to clinical applications has, for the most part, yielded disappointing results, except for some early, albeit small, trials. This review aims to provide a comprehensive summary of recent preclinical and clinical studies on gene therapy for various CVDs. Additionally, we discuss the existing limitations and challenges that hinder the widespread clinical application of cardiac gene therapy.</p>","PeriodicalId":23765,"journal":{"name":"Yonsei Medical Journal","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11427124/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142308649","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}