首页 > 最新文献

Journal of Korean Medical Science最新文献

英文 中文
Validity of the Tablet-Based Digital Cognitive Test (SCST) in Identifying Different Degrees of Cognitive Impairment. 基于平板电脑的数字认知测试 (SCST) 在识别不同程度认知障碍方面的有效性。
IF 3 3区 医学 Q1 MEDICINE, GENERAL & INTERNAL Pub Date : 2024-09-30 DOI: 10.3346/jkms.2024.39.e247
Dayeong An, Joon Soo Shin, Nanyoung Bae, Sang Won Seo, Duk L Na

Background: As society ages, the incidence of Alzheimer's disease and other dementias has surged, highlighting the importance of early dementia diagnosis. The Seoul Cognitive Status Test (SCST), a digital neuropsychological test, is designed for the early detection of cognitive impairment and has been standardized to establish reliability and validity. This study aims to verify whether the SCST effectively discriminates between groups based on three cognitive statuses (subjective cognitive decline [SCD], mild cognitive impairment [MCI], Dementia) in a large sample. We also seek to determine whether the SCST discriminates between individuals with three different cognitive statuses as defined by the Cognitive Dementia Rating (CDR).

Methods: We enrolled 254 participants from a dementia clinic who underwent a comprehensive neuropsychological battery (Seoul Neuropsychological Screening Battery-II) during the dementia evaluation by experienced neurologists (55 with SCD, 126 with MCI, 73 with dementia). In addition, the degree of cognitive decline in participants was classified by CDR level (186 with CDR 0.5, 52 with CDR 1, 15 with CDR 2). One-way analysis of variance was used to compare SCST scores according to each of the three cognitive status groups and CDR levels.

Results: The SCST total score, cognitive domain scores (attention, language, visuospatial function, memory, executive function), and most of the subtest scores decreased significantly in the order of SCD, MCI and dementia. Likewise, the differences in SCST scores between CDR levels were significant, particularly in distinguishing between CDR 0.5 and CDR 1.

Conclusion: This study reaffirmed that the SCST can significantly discriminate between groups of individuals with SCD, MCI, and dementia based on a large sample. Furthermore, differences in SCT scores were found across the levels of CDR, confirming the clinical utility of the SCST. These findings suggest that the SCST is an efficient and useful neuropsychological test for the sensitive detection of early cognitive impairment.

背景:随着社会老龄化,阿尔茨海默病和其他痴呆症的发病率激增,这凸显了早期诊断痴呆症的重要性。首尔认知状态测试(SCST)是一种数字神经心理测试,专为早期发现认知障碍而设计,并已标准化以确定其可靠性和有效性。本研究旨在验证 SCST 是否能在大样本中根据三种认知状态(主观认知功能减退 [SCD]、轻度认知功能障碍 [MCI]、痴呆症)有效区分不同群体。我们还试图确定 SCST 是否能区分认知痴呆评级(CDR)所定义的三种不同认知状态的个体:我们从一家痴呆症诊所招募了 254 名参与者,他们在由经验丰富的神经科医生进行痴呆症评估期间接受了全面的神经心理测试(首尔神经心理筛查测试-II)(其中 55 人患有 SCD,126 人患有 MCI,73 人患有痴呆症)。此外,参与者的认知能力衰退程度按 CDR 水平进行了分类(186 人 CDR 为 0.5,52 人 CDR 为 1,15 人 CDR 为 2)。采用单因素方差分析比较了三个认知状况组和 CDR 水平的 SCST 得分:结果:SCST总分、认知领域得分(注意力、语言、视觉空间功能、记忆力、执行功能)和大部分分测验分数均按SCD、MCI和痴呆的顺序显著下降。同样,不同 CDR 水平的 SCST 分数差异也很大,尤其是在区分 CDR 0.5 和 CDR 1 时:本研究再次证实,基于大样本,SCST 可显著区分 SCD、MCI 和痴呆症患者群体。此外,在不同的 CDR 水平下,SCT 分数也存在差异,这证实了 SCST 的临床实用性。这些研究结果表明,SCST 是一种高效实用的神经心理学测试,可用于早期认知功能障碍的敏感检测。
{"title":"Validity of the Tablet-Based Digital Cognitive Test (SCST) in Identifying Different Degrees of Cognitive Impairment.","authors":"Dayeong An, Joon Soo Shin, Nanyoung Bae, Sang Won Seo, Duk L Na","doi":"10.3346/jkms.2024.39.e247","DOIUrl":"10.3346/jkms.2024.39.e247","url":null,"abstract":"<p><strong>Background: </strong>As society ages, the incidence of Alzheimer's disease and other dementias has surged, highlighting the importance of early dementia diagnosis. The Seoul Cognitive Status Test (SCST), a digital neuropsychological test, is designed for the early detection of cognitive impairment and has been standardized to establish reliability and validity. This study aims to verify whether the SCST effectively discriminates between groups based on three cognitive statuses (subjective cognitive decline [SCD], mild cognitive impairment [MCI], Dementia) in a large sample. We also seek to determine whether the SCST discriminates between individuals with three different cognitive statuses as defined by the Cognitive Dementia Rating (CDR).</p><p><strong>Methods: </strong>We enrolled 254 participants from a dementia clinic who underwent a comprehensive neuropsychological battery (Seoul Neuropsychological Screening Battery-II) during the dementia evaluation by experienced neurologists (55 with SCD, 126 with MCI, 73 with dementia). In addition, the degree of cognitive decline in participants was classified by CDR level (186 with CDR 0.5, 52 with CDR 1, 15 with CDR 2). One-way analysis of variance was used to compare SCST scores according to each of the three cognitive status groups and CDR levels.</p><p><strong>Results: </strong>The SCST total score, cognitive domain scores (attention, language, visuospatial function, memory, executive function), and most of the subtest scores decreased significantly in the order of SCD, MCI and dementia. Likewise, the differences in SCST scores between CDR levels were significant, particularly in distinguishing between CDR 0.5 and CDR 1.</p><p><strong>Conclusion: </strong>This study reaffirmed that the SCST can significantly discriminate between groups of individuals with SCD, MCI, and dementia based on a large sample. Furthermore, differences in SCT scores were found across the levels of CDR, confirming the clinical utility of the SCST. These findings suggest that the SCST is an efficient and useful neuropsychological test for the sensitive detection of early cognitive impairment.</p>","PeriodicalId":16249,"journal":{"name":"Journal of Korean Medical Science","volume":"39 37","pages":"e247"},"PeriodicalIF":3.0,"publicationDate":"2024-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11444814/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142361657","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Modified Albumin-Bilirubin Grade After Curative Treatment: Predicting the Risk of Late Intrahepatic Recurrence of Hepatocellular Carcinoma. 治愈性治疗后的修正白蛋白-胆红素分级:预测肝细胞癌晚期肝内复发风险
IF 3 3区 医学 Q1 MEDICINE, GENERAL & INTERNAL Pub Date : 2024-09-30 DOI: 10.3346/jkms.2024.39.e251
Myung Ji Goh, Hee Chul Park, Nalee Kim, Bong Kyung Bae, Moon Seok Choi, Jinsoo Rhu, Min Woo Lee, Woo Kyoung Jeong, Minji Kim, Kyunga Kim, Jeong Il Yu

Background: We aimed to identify the prognostic factors for late intrahepatic recurrence (IHR), defined as recurrence more than two years after curative treatment of newly diagnosed hepatocellular carcinoma (HCC).

Methods: This retrospective cohort study included patients with newly diagnosed, previously untreated, very early, or early HCC treated with initial curative treatment and followed up without recurrence for more than two years, excluding early IHR defined as recurrence within two years in single center. Late IHR-free survival (IHRFS) was defined as the time interval from initial curative treatment to the first IHR or death without IHR, whichever occurred first.

Results: Among all the enrolled 2,304 patients, 1,427 (61.9%) underwent curative intent hepatectomy and the remaining 877 (38.1%) underwent local ablative therapy (LAT). During the follow-up after curative treatment (median, 82.6 months; range, 24.1 to 195.7), late IHR was detected in 816 (35.4%) patients. In the multivariable analysis, age, male sex, cirrhotic liver at diagnosis, type of initial treatment, and modified albumin-bilirubin (mALBI) grade were significant prognostic baseline factors. Furthermore, mALBI grade at three (2a vs. 1, P = 0.02, hazard ratio [HR], 1.33; 95% confidence interval [CI], 1.04-1.70; 2b/3 vs. 1, P = 0.03; HR, 1.42; 95% CI, 1.03-1.94) and six months (2b/3 vs. 1; P = 0.006; HR, 1.61; 95% CI, 1.13-2.30) after initial curative treatment was also a significant prognostic factor for late IHR.

Conclusion: After curative treatment for newly diagnosed early HCC, the mALBI grade at three and six months after initial curative treatment, as well as at baseline, was one of the most crucial prognostic factors for late IHR.

背景:我们旨在确定肝内晚期复发(IHR)的预后因素:我们旨在确定肝内晚期复发(IHR)的预后因素,肝内晚期复发是指新诊断肝细胞癌(HCC)治愈性治疗后两年以上复发:这项回顾性队列研究纳入了新诊断、既往未治疗、极早期或早期肝细胞癌患者,这些患者接受了初始根治性治疗,随访两年以上未复发,但不包括早期肝内复发,早期肝内复发是指在单一中心两年内复发。晚期无IHR生存期(IHRFS)的定义是从最初的根治性治疗到首次IHR或无IHR死亡(以先发生者为准)的时间间隔:在所有入选的 2,304 名患者中,1,427 人(61.9%)接受了治愈性肝切除术,其余 877 人(38.1%)接受了局部消融治疗(LAT)。在治愈性治疗后的随访期间(中位数为 82.6 个月;范围为 24.1 至 195.7 个月),816 名患者(35.4%)发现了晚期 IHR。在多变量分析中,年龄、男性、诊断时肝硬化程度、初始治疗类型和改良白蛋白胆红素(mALBI)分级是重要的预后基线因素。此外,初始根治性治疗后三个月(2a 对 1,P = 0.02,危险比 [HR],1.33;95% 置信区间 [CI],1.04-1.70;2b/3 对 1,P = 0.03;HR,1.42;95% CI,1.03-1.94)和六个月(2b/3 对 1,P = 0.006;HR,1.61;95% CI,1.13-2.30)的 mALBI 分级也是晚期 IHR 的重要预后因素:结论:对新诊断的早期 HCC 进行根治性治疗后,首次根治性治疗后 3 个月和 6 个月时的 mALBI 分级以及基线时的 mALBI 分级是晚期 IHR 最关键的预后因素之一。
{"title":"Modified Albumin-Bilirubin Grade After Curative Treatment: Predicting the Risk of Late Intrahepatic Recurrence of Hepatocellular Carcinoma.","authors":"Myung Ji Goh, Hee Chul Park, Nalee Kim, Bong Kyung Bae, Moon Seok Choi, Jinsoo Rhu, Min Woo Lee, Woo Kyoung Jeong, Minji Kim, Kyunga Kim, Jeong Il Yu","doi":"10.3346/jkms.2024.39.e251","DOIUrl":"10.3346/jkms.2024.39.e251","url":null,"abstract":"<p><strong>Background: </strong>We aimed to identify the prognostic factors for late intrahepatic recurrence (IHR), defined as recurrence more than two years after curative treatment of newly diagnosed hepatocellular carcinoma (HCC).</p><p><strong>Methods: </strong>This retrospective cohort study included patients with newly diagnosed, previously untreated, very early, or early HCC treated with initial curative treatment and followed up without recurrence for more than two years, excluding early IHR defined as recurrence within two years in single center. Late IHR-free survival (IHRFS) was defined as the time interval from initial curative treatment to the first IHR or death without IHR, whichever occurred first.</p><p><strong>Results: </strong>Among all the enrolled 2,304 patients, 1,427 (61.9%) underwent curative intent hepatectomy and the remaining 877 (38.1%) underwent local ablative therapy (LAT). During the follow-up after curative treatment (median, 82.6 months; range, 24.1 to 195.7), late IHR was detected in 816 (35.4%) patients. In the multivariable analysis, age, male sex, cirrhotic liver at diagnosis, type of initial treatment, and modified albumin-bilirubin (mALBI) grade were significant prognostic baseline factors. Furthermore, mALBI grade at three (2a vs. 1, <i>P</i> = 0.02, hazard ratio [HR], 1.33; 95% confidence interval [CI], 1.04-1.70; 2b/3 vs. 1, <i>P</i> = 0.03; HR, 1.42; 95% CI, 1.03-1.94) and six months (2b/3 vs. 1; <i>P</i> = 0.006; HR, 1.61; 95% CI, 1.13-2.30) after initial curative treatment was also a significant prognostic factor for late IHR.</p><p><strong>Conclusion: </strong>After curative treatment for newly diagnosed early HCC, the mALBI grade at three and six months after initial curative treatment, as well as at baseline, was one of the most crucial prognostic factors for late IHR.</p>","PeriodicalId":16249,"journal":{"name":"Journal of Korean Medical Science","volume":"39 37","pages":"e251"},"PeriodicalIF":3.0,"publicationDate":"2024-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11444816/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142361656","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Letter to the Editor: Recognizing Coercion Authorship as a Serious Form of Research Misconduct. 致编辑的信:认识到胁迫作者是一种严重的研究不当行为。
IF 3 3区 医学 Q1 MEDICINE, GENERAL & INTERNAL Pub Date : 2024-09-23 DOI: 10.3346/jkms.2024.39.e285
Bor Luen Tang
{"title":"Letter to the Editor: Recognizing Coercion Authorship as a Serious Form of Research Misconduct.","authors":"Bor Luen Tang","doi":"10.3346/jkms.2024.39.e285","DOIUrl":"10.3346/jkms.2024.39.e285","url":null,"abstract":"","PeriodicalId":16249,"journal":{"name":"Journal of Korean Medical Science","volume":"39 36","pages":"e285"},"PeriodicalIF":3.0,"publicationDate":"2024-09-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11419964/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142307948","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
In This Issue on 23-September-2024. 本期主题:2024 年 9 月 23 日。
IF 3 3区 医学 Q1 MEDICINE, GENERAL & INTERNAL Pub Date : 2024-09-23 DOI: 10.3346/jkms.2024.39.e287
Jin-Hong Yoo
{"title":"In This Issue on 23-September-2024.","authors":"Jin-Hong Yoo","doi":"10.3346/jkms.2024.39.e287","DOIUrl":"https://doi.org/10.3346/jkms.2024.39.e287","url":null,"abstract":"","PeriodicalId":16249,"journal":{"name":"Journal of Korean Medical Science","volume":"39 36","pages":"e287"},"PeriodicalIF":3.0,"publicationDate":"2024-09-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142307947","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Direct Oral Anticoagulants in Antiphospholipid Syndrome-Associated Venous Thromboembolism: Real World Evidence. 抗磷脂综合征相关静脉血栓栓塞症中的直接口服抗凝剂:真实世界的证据。
IF 3 3区 医学 Q1 MEDICINE, GENERAL & INTERNAL Pub Date : 2024-09-23 DOI: 10.3346/jkms.2024.39.e252
Hun-Gyu Hwang, Ju Hyun Lee, Sang-A Kim, Yang-Ki Kim, Myung-Shin Kim, Junshik Hong, Ho-Young Yhim, Soo-Mee Bang

Background: The efficacy and safety of direct oral anticoagulants (DOACs) versus warfarin in patients with antiphospholipid syndrome-associated venous thromboembolism (APS-VTE) remain uncertain. We aimed to evaluate efficacy and safety of DOACs in patients with APS-VTE.

Methods: Using the Korean Health Insurance Review and Assessment Service database, we retrospectively identified all APS-VTE cases. We examined the VTE recurrence, arterial thrombosis, death and bleeding in patients who received DOACs compared with warfarin for therapeutic anticoagulation.

Results: Of all the VTE cases (n = 84,916) detected between 2014 and 2018, patients with APS-VTE (n = 410) accounted for 0.48%. Most patients with APS-VTE (73%) were aged < 60 years. The recurrent VTE occurred in 8 of 209 patients (3.8%) who received DOACs and in 7 of 201 (3.5%) who received warfarin (relative risk [RR], 1.099; 95% confidence interval [CI], 0.41-2.98; P = 1.000). The arterial thrombosis (ATE) occurred in 8 of 209 patients (3.8%) who received DOAC and in 20 of 201 (10%) who received warfarin (RR, 0.385; 95% CI, 0.17-0.85; P = 0.024). The composite outcomes of VTE recurrence, ATE, or mortality were significantly lower in patients (9.1%) on DOAC than in those (16.3%) on warfarin (RR, 0.537; 95% CI, 0.32-0.91; P = 0.028). The bleeding outcome occurred in 7 of 209 (3.4%) patients in the DOACs group and 7 of 201 (3.5%) patients in the warfarin group (RR, 0.96; 95% CI, 0.34-2.69; P = 0.840).

Conclusion: In patients with APS-VTE, DOACs group showed comparable rates of recurrent VTE, bleeding, and deaths, but a significantly lower incidence of ATE and composite outcomes compared with the warfarin group in Korea.

背景:在抗磷脂综合征相关静脉血栓栓塞症(APS-VTE)患者中,直接口服抗凝药(DOACs)相对于华法林的疗效和安全性仍不确定。我们旨在评估 DOACs 对 APS-VTE 患者的疗效和安全性:利用韩国健康保险审查和评估服务数据库,我们回顾性地确定了所有 APS-VTE 病例。方法:我们利用韩国健康保险审查评估服务数据库,对所有 APS-VTE 病例进行了回顾性分析,并对接受 DOACs 与华法林相比进行抗凝治疗的患者的 VTE 复发、动脉血栓形成、死亡和出血情况进行了研究:在2014年至2018年期间发现的所有VTE病例(n = 84 916例)中,APS-VTE患者(n = 410例)占0.48%。大多数APS-VTE患者(73%)年龄小于60岁。接受 DOACs 治疗的 209 例患者中有 8 例(3.8%)复发 VTE,接受华法林治疗的 201 例患者中有 7 例(3.5%)复发 VTE(相对风险 [RR],1.099;95% 置信区间 [CI],0.41-2.98;P = 1.000)。接受 DOAC 的 209 例患者中有 8 例(3.8%)发生动脉血栓 (ATE),接受华法林的 201 例患者中有 20 例(10%)发生动脉血栓 (RR,0.385;95% CI,0.17-0.85;P = 0.024)。使用 DOAC 的患者(9.1%)的 VTE 复发、ATE 或死亡率的复合结果明显低于使用华法林的患者(16.3%)(RR,0.537;95% CI,0.32-0.91;P = 0.028)。DOACs组209例患者中有7例(3.4%)出现出血结果,华法林组201例患者中有7例(3.5%)出现出血结果(RR,0.96;95% CI,0.34-2.69;P = 0.840):结论:在韩国,与华法林组相比,DOACs 组 APS-VTE 患者的复发性 VTE、出血和死亡发生率相当,但 ATE 发生率和综合结果显著低于华法林组。
{"title":"Direct Oral Anticoagulants in Antiphospholipid Syndrome-Associated Venous Thromboembolism: Real World Evidence.","authors":"Hun-Gyu Hwang, Ju Hyun Lee, Sang-A Kim, Yang-Ki Kim, Myung-Shin Kim, Junshik Hong, Ho-Young Yhim, Soo-Mee Bang","doi":"10.3346/jkms.2024.39.e252","DOIUrl":"10.3346/jkms.2024.39.e252","url":null,"abstract":"<p><strong>Background: </strong>The efficacy and safety of direct oral anticoagulants (DOACs) versus warfarin in patients with antiphospholipid syndrome-associated venous thromboembolism (APS-VTE) remain uncertain. We aimed to evaluate efficacy and safety of DOACs in patients with APS-VTE.</p><p><strong>Methods: </strong>Using the Korean Health Insurance Review and Assessment Service database, we retrospectively identified all APS-VTE cases. We examined the VTE recurrence, arterial thrombosis, death and bleeding in patients who received DOACs compared with warfarin for therapeutic anticoagulation.</p><p><strong>Results: </strong>Of all the VTE cases (n = 84,916) detected between 2014 and 2018, patients with APS-VTE (n = 410) accounted for 0.48%. Most patients with APS-VTE (73%) were aged < 60 years. The recurrent VTE occurred in 8 of 209 patients (3.8%) who received DOACs and in 7 of 201 (3.5%) who received warfarin (relative risk [RR], 1.099; 95% confidence interval [CI], 0.41-2.98; <i>P</i> = 1.000). The arterial thrombosis (ATE) occurred in 8 of 209 patients (3.8%) who received DOAC and in 20 of 201 (10%) who received warfarin (RR, 0.385; 95% CI, 0.17-0.85; <i>P</i> = 0.024). The composite outcomes of VTE recurrence, ATE, or mortality were significantly lower in patients (9.1%) on DOAC than in those (16.3%) on warfarin (RR, 0.537; 95% CI, 0.32-0.91; <i>P</i> = 0.028). The bleeding outcome occurred in 7 of 209 (3.4%) patients in the DOACs group and 7 of 201 (3.5%) patients in the warfarin group (RR, 0.96; 95% CI, 0.34-2.69; <i>P</i> = 0.840).</p><p><strong>Conclusion: </strong>In patients with APS-VTE, DOACs group showed comparable rates of recurrent VTE, bleeding, and deaths, but a significantly lower incidence of ATE and composite outcomes compared with the warfarin group in Korea.</p>","PeriodicalId":16249,"journal":{"name":"Journal of Korean Medical Science","volume":"39 36","pages":"e252"},"PeriodicalIF":3.0,"publicationDate":"2024-09-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11419963/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142307946","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The Government Should Play a Role Greater Than That of Construction Supervisor in the National Bio-Big Data Infrastructure. 在国家生物大数据基础设施中,政府应扮演比施工监理更重要的角色。
IF 3 3区 医学 Q1 MEDICINE, GENERAL & INTERNAL Pub Date : 2024-09-23 DOI: 10.3346/jkms.2024.39.e262
Youjung Shin, Claire Junga Kim
{"title":"The Government Should Play a Role Greater Than That of Construction Supervisor in the National Bio-Big Data Infrastructure.","authors":"Youjung Shin, Claire Junga Kim","doi":"10.3346/jkms.2024.39.e262","DOIUrl":"10.3346/jkms.2024.39.e262","url":null,"abstract":"","PeriodicalId":16249,"journal":{"name":"Journal of Korean Medical Science","volume":"39 36","pages":"e262"},"PeriodicalIF":3.0,"publicationDate":"2024-09-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11419965/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142307950","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Diagnostic Utility of Whole Genome Sequencing After Negative Karyotyping/Chromosomal Microarray in Infants Born With Multiple Congenital Anomalies. 核型分析/染色体微阵列阴性后进行全基因组测序对先天性多发畸形婴儿的诊断作用。
IF 3 3区 医学 Q1 MEDICINE, GENERAL & INTERNAL Pub Date : 2024-09-23 DOI: 10.3346/jkms.2024.39.e250
Misun Yang, Jee Ah Kim, Heui Seung Jo, Jong-Ho Park, So Yoon Ahn, Se In Sung, Won Soon Park, Hye-Won Cho, Jeong-Min Kim, Mi-Hyun Park, Hyun-Young Park, Ja-Hyun Jang, Yun Sil Chang

Background: Achieving a definitive genetic diagnosis of unexplained multiple congenital anomalies (MCAs) in neonatal intensive care units (NICUs) infants is challenging because of the limited diagnostic capabilities of conventional genetic tests. Although the implementation of whole genome sequencing (WGS) has commenced for diagnosing MCAs, due to constraints in resources and faculty, many NICUs continue to utilize chromosomal microarray (CMA) and/or karyotyping as the initial diagnostic approach. We aimed to evaluate the diagnostic efficacy of WGS in infants with MCAs who have received negative results from karyotyping and/or CMA.

Methods: In this prospective study, we enrolled 80 infants with MCAs who were admitted to a NICU at a single center and had received negative results from CMA and/or karyotyping. The phenotypic characteristics were classified according to the International Classification of Diseases and the Human Phenotype Ontology. We assessed the diagnostic yield of trio-WGS in infants with normal chromosomal result and explored the process of diagnosing by analyzing both phenotype and genotype. Also, we compared the phenotype and clinical outcomes between the groups diagnosed with WGS and the undiagnosed group.

Results: The diagnostic yield of WGS was 26% (21/80), of which 76% were novel variants. There was a higher diagnostic yield in cases of craniofacial abnormalities, including those of the eye and ear, and a lower diagnostic yield in cases of gastrointestinal and genitourinary abnormalities. In addition, higher rates of rehabilitation therapy and gastrostomy were observed in WGS-diagnosed infants than in undiagnosed infants.

Conclusion: This prospective cohort study assessed the usefulness of trio-WGS following chromosomal analysis for diagnosing MCAs in the NICU and revealed improvements in the diagnostic yield and clinical utility of WGS.

背景:由于传统基因检测的诊断能力有限,要对新生儿重症监护室(NICU)中不明原因的多发性先天性畸形(MCA)进行明确的基因诊断极具挑战性。虽然全基因组测序(WGS)已开始用于诊断 MCA,但由于资源和师资的限制,许多新生儿重症监护室仍将染色体微阵列(CMA)和/或核型分析作为初始诊断方法。我们的目的是评估 WGS 对核型和/或 CMA 阴性结果的 MCA 婴儿的诊断效果:在这项前瞻性研究中,我们选取了 80 名在一个中心的新生儿重症监护室(NICU)住院、CMA 和/或核型检查结果为阴性的 MCA 患儿。表型特征根据国际疾病分类和人类表型本体进行分类。我们评估了染色体结果正常婴儿的三重 WGS 诊断率,并通过分析表型和基因型探讨了诊断过程。此外,我们还比较了经 WGS 诊断组和未诊断组的表型和临床结果:WGS的诊断率为26%(21/80),其中76%为新型变异。颅面畸形(包括眼部和耳部畸形)的诊断率较高,而胃肠道和泌尿生殖系统畸形的诊断率较低。此外,与未确诊的婴儿相比,确诊为 WGS 的婴儿接受康复治疗和胃造口术的比例更高:这项前瞻性队列研究评估了染色体分析后的三重 WGS 对诊断新生儿重症监护病房中的 MCA 的实用性,结果显示 WGS 的诊断率和临床实用性均有所提高。
{"title":"Diagnostic Utility of Whole Genome Sequencing After Negative Karyotyping/Chromosomal Microarray in Infants Born With Multiple Congenital Anomalies.","authors":"Misun Yang, Jee Ah Kim, Heui Seung Jo, Jong-Ho Park, So Yoon Ahn, Se In Sung, Won Soon Park, Hye-Won Cho, Jeong-Min Kim, Mi-Hyun Park, Hyun-Young Park, Ja-Hyun Jang, Yun Sil Chang","doi":"10.3346/jkms.2024.39.e250","DOIUrl":"10.3346/jkms.2024.39.e250","url":null,"abstract":"<p><strong>Background: </strong>Achieving a definitive genetic diagnosis of unexplained multiple congenital anomalies (MCAs) in neonatal intensive care units (NICUs) infants is challenging because of the limited diagnostic capabilities of conventional genetic tests. Although the implementation of whole genome sequencing (WGS) has commenced for diagnosing MCAs, due to constraints in resources and faculty, many NICUs continue to utilize chromosomal microarray (CMA) and/or karyotyping as the initial diagnostic approach. We aimed to evaluate the diagnostic efficacy of WGS in infants with MCAs who have received negative results from karyotyping and/or CMA.</p><p><strong>Methods: </strong>In this prospective study, we enrolled 80 infants with MCAs who were admitted to a NICU at a single center and had received negative results from CMA and/or karyotyping. The phenotypic characteristics were classified according to the International Classification of Diseases and the Human Phenotype Ontology. We assessed the diagnostic yield of trio-WGS in infants with normal chromosomal result and explored the process of diagnosing by analyzing both phenotype and genotype. Also, we compared the phenotype and clinical outcomes between the groups diagnosed with WGS and the undiagnosed group.</p><p><strong>Results: </strong>The diagnostic yield of WGS was 26% (21/80), of which 76% were novel variants. There was a higher diagnostic yield in cases of craniofacial abnormalities, including those of the eye and ear, and a lower diagnostic yield in cases of gastrointestinal and genitourinary abnormalities. In addition, higher rates of rehabilitation therapy and gastrostomy were observed in WGS-diagnosed infants than in undiagnosed infants.</p><p><strong>Conclusion: </strong>This prospective cohort study assessed the usefulness of trio-WGS following chromosomal analysis for diagnosing MCAs in the NICU and revealed improvements in the diagnostic yield and clinical utility of WGS.</p>","PeriodicalId":16249,"journal":{"name":"Journal of Korean Medical Science","volume":"39 36","pages":"e250"},"PeriodicalIF":3.0,"publicationDate":"2024-09-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11419962/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142307945","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Masticatory Function, Sex, and Risk of Dementia Among Older Adults: A Population-Based Cohort Study. 咀嚼功能、性别与老年人患痴呆症的风险:基于人群的队列研究。
IF 3 3区 医学 Q1 MEDICINE, GENERAL & INTERNAL Pub Date : 2024-09-23 DOI: 10.3346/jkms.2024.39.e246
Dae Jong Oh, Ji Won Han, Jun Sung Kim, Tae Hui Kim, Kyung Phil Kwak, Bong Jo Kim, Shin Gyeom Kim, Jeong Lan Kim, Seok Woo Moon, Joon Hyuk Park, Seung-Ho Ryu, Jong Chul Youn, Dong Young Lee, Dong Woo Lee, Seok Bum Lee, Jung Jae Lee, Jin Hyeong Jhoo, Ki Woong Kim

Background: A decline in masticatory function may indicate brain dysfunction related to dementia, but the relationship between masticatory function and dementia risk remains unclear. This study aimed to investigate whether masticatory function is associated with the risk of cognitive decline and dementia.

Methods: Data were obtained from the nationwide prospective cohort study of randomly sampled community-dwelling Koreans aged ≥ 60 years. The 5,064 non-demented participants, whose number of chewing cycles per bite was assessed by clinical interview, were followed for 8 years with biennial assessments of cognitive performance and clinical diagnoses of all-cause dementia and Alzheimer's disease (AD). Structural brain magnetic resonance imaging was collected from a subset of cohort participants and their spouses for imaging analyses.

Results: Males who chewed ≥ 30 cycles/bite had faster decline in global cognition and memory function and were at higher risk for incident all-cause dementia (hazard ratio [HR], 2.91; 95% confidence interval [CI], 1.18-7.18) and AD (HR, 3.22; 95% CI, 1.14-9.11) compared to males with less than 10 cycles/bite. Additionally, increased chewing cycles in males were associated with reduced brain volume, particularly in regions involved in compensatory cognitive control of mastication. There was no significant association between chewing cycles and the risk of dementia or brain volume in females.

Conclusion: Older men who frequently chew their meals could be considered a notable population at risk for dementia who should be carefully assessed for their cognitive trajectories.

背景:咀嚼功能下降可能预示着与痴呆症有关的大脑功能障碍,但咀嚼功能与痴呆症风险之间的关系仍不清楚。本研究旨在探讨咀嚼功能是否与认知能力下降和痴呆症风险有关:数据来源于一项全国性的前瞻性队列研究,该研究随机抽取了年龄≥60岁的韩国社区居民。研究人员对 5064 名非痴呆参与者进行了长达 8 年的随访,每两年对他们的认知能力以及全因痴呆和阿尔茨海默病(AD)的临床诊断进行一次评估。对一部分队列参与者及其配偶进行了脑结构磁共振成像,以进行成像分析:与咀嚼次数少于 10 次/咬合的男性相比,咀嚼次数≥ 30 次/咬合的男性整体认知和记忆功能下降更快,患全因痴呆症(危险比 [HR],2.91;95% 置信区间 [CI],1.18-7.18)和注意力缺失症(HR,3.22;95% 置信区间,1.14-9.11)的风险更高。此外,男性咀嚼次数的增加与脑容量的减少有关,特别是在咀嚼的补偿性认知控制区域。女性的咀嚼周期与痴呆症风险或脑容量之间没有明显联系:结论:经常咀嚼饭菜的老年男性可被视为痴呆症的高危人群,应仔细评估他们的认知轨迹。
{"title":"Masticatory Function, Sex, and Risk of Dementia Among Older Adults: A Population-Based Cohort Study.","authors":"Dae Jong Oh, Ji Won Han, Jun Sung Kim, Tae Hui Kim, Kyung Phil Kwak, Bong Jo Kim, Shin Gyeom Kim, Jeong Lan Kim, Seok Woo Moon, Joon Hyuk Park, Seung-Ho Ryu, Jong Chul Youn, Dong Young Lee, Dong Woo Lee, Seok Bum Lee, Jung Jae Lee, Jin Hyeong Jhoo, Ki Woong Kim","doi":"10.3346/jkms.2024.39.e246","DOIUrl":"10.3346/jkms.2024.39.e246","url":null,"abstract":"<p><strong>Background: </strong>A decline in masticatory function may indicate brain dysfunction related to dementia, but the relationship between masticatory function and dementia risk remains unclear. This study aimed to investigate whether masticatory function is associated with the risk of cognitive decline and dementia.</p><p><strong>Methods: </strong>Data were obtained from the nationwide prospective cohort study of randomly sampled community-dwelling Koreans aged ≥ 60 years. The 5,064 non-demented participants, whose number of chewing cycles per bite was assessed by clinical interview, were followed for 8 years with biennial assessments of cognitive performance and clinical diagnoses of all-cause dementia and Alzheimer's disease (AD). Structural brain magnetic resonance imaging was collected from a subset of cohort participants and their spouses for imaging analyses.</p><p><strong>Results: </strong>Males who chewed ≥ 30 cycles/bite had faster decline in global cognition and memory function and were at higher risk for incident all-cause dementia (hazard ratio [HR], 2.91; 95% confidence interval [CI], 1.18-7.18) and AD (HR, 3.22; 95% CI, 1.14-9.11) compared to males with less than 10 cycles/bite. Additionally, increased chewing cycles in males were associated with reduced brain volume, particularly in regions involved in compensatory cognitive control of mastication. There was no significant association between chewing cycles and the risk of dementia or brain volume in females.</p><p><strong>Conclusion: </strong>Older men who frequently chew their meals could be considered a notable population at risk for dementia who should be carefully assessed for their cognitive trajectories.</p>","PeriodicalId":16249,"journal":{"name":"Journal of Korean Medical Science","volume":"39 36","pages":"e246"},"PeriodicalIF":3.0,"publicationDate":"2024-09-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11419966/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142307949","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
In This Issue on 09-September-2024. 本期日期:2024 年 9 月 9 日
IF 3 3区 医学 Q1 MEDICINE, GENERAL & INTERNAL Pub Date : 2024-09-09 DOI: 10.3346/jkms.2024.39.e277
Jin-Hong Yoo
{"title":"In This Issue on 09-September-2024.","authors":"Jin-Hong Yoo","doi":"10.3346/jkms.2024.39.e277","DOIUrl":"https://doi.org/10.3346/jkms.2024.39.e277","url":null,"abstract":"","PeriodicalId":16249,"journal":{"name":"Journal of Korean Medical Science","volume":"39 35","pages":"e277"},"PeriodicalIF":3.0,"publicationDate":"2024-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11387077/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142289342","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Varicella Vaccine Safety: Absence of Evidence Is Not Evidence of Absence. 水痘疫苗的安全性:没有证据并不代表没有。
IF 4.5 3区 医学 Q1 MEDICINE, GENERAL & INTERNAL Pub Date : 2024-09-09 DOI: 10.3346/jkms.2024.39.e245
Joowon Lee
{"title":"Varicella Vaccine Safety: Absence of Evidence Is Not Evidence of Absence.","authors":"Joowon Lee","doi":"10.3346/jkms.2024.39.e245","DOIUrl":"https://doi.org/10.3346/jkms.2024.39.e245","url":null,"abstract":"","PeriodicalId":16249,"journal":{"name":"Journal of Korean Medical Science","volume":"28 1","pages":"e245"},"PeriodicalIF":4.5,"publicationDate":"2024-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142210557","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
期刊
Journal of Korean Medical Science
全部 Acc. Chem. Res. ACS Applied Bio Materials ACS Appl. Electron. Mater. ACS Appl. Energy Mater. ACS Appl. Mater. Interfaces ACS Appl. Nano Mater. ACS Appl. Polym. Mater. ACS BIOMATER-SCI ENG ACS Catal. ACS Cent. Sci. ACS Chem. Biol. ACS Chemical Health & Safety ACS Chem. Neurosci. ACS Comb. Sci. ACS Earth Space Chem. ACS Energy Lett. ACS Infect. Dis. ACS Macro Lett. ACS Mater. Lett. ACS Med. Chem. Lett. ACS Nano ACS Omega ACS Photonics ACS Sens. ACS Sustainable Chem. Eng. ACS Synth. Biol. Anal. Chem. BIOCHEMISTRY-US Bioconjugate Chem. BIOMACROMOLECULES Chem. Res. Toxicol. Chem. Rev. Chem. Mater. CRYST GROWTH DES ENERG FUEL Environ. Sci. Technol. Environ. Sci. Technol. Lett. Eur. J. Inorg. Chem. IND ENG CHEM RES Inorg. Chem. J. Agric. Food. Chem. J. Chem. Eng. Data J. Chem. Educ. J. Chem. Inf. Model. J. Chem. Theory Comput. J. Med. Chem. J. Nat. Prod. J PROTEOME RES J. Am. Chem. Soc. LANGMUIR MACROMOLECULES Mol. Pharmaceutics Nano Lett. Org. Lett. ORG PROCESS RES DEV ORGANOMETALLICS J. Org. Chem. J. Phys. Chem. J. Phys. Chem. A J. Phys. Chem. B J. Phys. Chem. C J. Phys. Chem. Lett. Analyst Anal. Methods Biomater. Sci. Catal. Sci. Technol. Chem. Commun. Chem. Soc. Rev. CHEM EDUC RES PRACT CRYSTENGCOMM Dalton Trans. Energy Environ. Sci. ENVIRON SCI-NANO ENVIRON SCI-PROC IMP ENVIRON SCI-WAT RES Faraday Discuss. Food Funct. Green Chem. Inorg. Chem. Front. Integr. Biol. J. Anal. At. Spectrom. J. Mater. Chem. A J. Mater. Chem. B J. Mater. Chem. C Lab Chip Mater. Chem. Front. Mater. Horiz. MEDCHEMCOMM Metallomics Mol. Biosyst. Mol. Syst. Des. Eng. Nanoscale Nanoscale Horiz. Nat. Prod. Rep. New J. Chem. Org. Biomol. Chem. Org. Chem. Front. PHOTOCH PHOTOBIO SCI PCCP Polym. Chem.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
0
微信
客服QQ
Book学术公众号 扫码关注我们
反馈
×
意见反馈
请填写您的意见或建议
请填写您的手机或邮箱
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
现在去查看 取消
×
提示
确定
Book学术官方微信
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术
文献互助 智能选刊 最新文献 互助须知 联系我们:info@booksci.cn
Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。
Copyright © 2023 Book学术 All rights reserved.
ghs 京公网安备 11010802042870号 京ICP备2023020795号-1