老年人痴呆或认知障碍多由一种以上年龄相关的常见脑部疾病所致。阿尔茨海默病(Alzheimer's disease,AD)是其中最常见的神经变性疾病,且是全球前10位死因中唯一无法治愈或缺乏长期对症疗效的疾病,给个人、家庭和全球经济都带来了巨...老年人痴呆或认知障碍多由一种以上年龄相关的常见脑部疾病所致。阿尔茨海默病(Alzheimer's disease,AD)是其中最常见的神经变性疾病,且是全球前10位死因中唯一无法治愈或缺乏长期对症疗效的疾病,给个人、家庭和全球经济都带来了巨大的负担。早期及时发现和干预是对抗AD的最佳策略。在过去的30年中,许多研究都提出了降低痴呆风险的方法,2020年《柳叶刀》杂志的痴呆预防报告已阐明通过应对风险因素可以预防或延缓超过40%的痴呆。然而,目前全球医疗体系尚未具备早期或及时发现AD的足够能力。最近的一项研究发现,只有不到10%的轻度认知障碍(mild cognitive impairment,MCI)是在初级医疗机构中诊断出来的。近来,抗淀粉样蛋白β(Amyloid beta,Aβ)抗体药物lecanemab和donanemab被批准上市用于早期AD治疗,以及30年的随访研究证明改善风险因素显著减少AD痴呆的发病率并延长了寿命,使得人们对AD早期识别的关注迅速增加。阿尔茨海默病防治协会(China Association for Alzheimer's Disease,CAAD)认识到居家早期和及时发现AD的重要性,并成立了一个由协会成员、临床医生和研究人员组成的全球AD多领域专家团队,就以下目标达成共识:①为个人、家庭、社区、协会和组织提供专家指导意见;②介绍用于认知障碍和痴呆居家筛查的数字工具和可用资源,并为AD高危人群或疑似患者制定下一步应对策略;③讨论现有可用或将来可能的居家筛查适宜AD生物标志物;④为未来的改进和全球应用建立可行性框架。专家组对于当前可用的证据、工具和资源进行综述,并进一步考量其在AD居家筛查中的价值。展开更多
BACKGROUND Gastrointestinal neoplasm(GN)significantly impact the global cancer burden and mortality,necessitating early detection and treatment.Understanding the evolution and current state of research in this field i...BACKGROUND Gastrointestinal neoplasm(GN)significantly impact the global cancer burden and mortality,necessitating early detection and treatment.Understanding the evolution and current state of research in this field is vital.AIM To conducts a comprehensive bibliometric analysis of publications from 1984 to 2022 to elucidate the trends and hotspots in the GN risk assessment research,focusing on key contributors,institutions,and thematic evolution.METHODS This study conducted a bibliometric analysis of data from the Web of Science Core Collection database using the"bibliometrix"R package,VOSviewer,and CiteSpace.The analysis focused on the distribution of publications,contributions by institutions and countries,and trends in keywords.The methods included data synthesis,network analysis,and visualization of international collaboration networks.RESULTS This analysis of 1371 articles on GN risk assessment revealed a notable evolution in terms of research focus and collaboration.It highlights the United States'critical role in advancing this field,with significant contributions from institutions such as Brigham and Women's Hospital and the National Cancer Institute.The last five years,substantial advancements have been made,representing nearly 45%of the examined literature.Publication rates have dramatically increased,from 20 articles in 2002 to 112 in 2022,reflecting intensified research efforts.This study underscores a growing trend toward interdisciplinary and international collaboration,with the Journal of Clinical Oncology standing out as a key publication outlet.This shift toward more comprehensive and collaborative research methods marks a significant step in addressing GN risks.CONCLUSION This study underscores advancements in GN risk assessment through genetic analyses and machine learning and reveals significant geographical disparities in research emphasis.This calls for enhanced global collaboration and integration of artificial intelligence to improve cancer prevention and treatment accuracy,ultimately enhancing worldwide patient care.展开更多
BACKGROUND The clinical manifestations of trisomy 7 mosaicism are diverse and nonspecific,so prenatal diagnosis is very difficult.CASE SUMMARY Two pregnant women with abnormal prenatal screening results were included....BACKGROUND The clinical manifestations of trisomy 7 mosaicism are diverse and nonspecific,so prenatal diagnosis is very difficult.CASE SUMMARY Two pregnant women with abnormal prenatal screening results were included.One was a 22-year-old woman(G1P0).At 31st week of gestation,ultrasound revealed that the posterior horn of the left lateral ventricle was 10 mm and the right renal pelvis had a separation of 7 mm.The other pregnant woman was 33 years old(G2P1L1A0),and her fetus was found to have a cardiac malformation at the 24th week of gestation.Copy number variation sequencing,whole-exome sequencing and karyotype analysis were carried out after amniocentesis,and both fetuses were diagnosed with trisomy 7 mosaicism.After parental counseling,one woman continued the pregnancy,and the other woman terminated the pregnancy.CONCLUSION In trisomy 7 mosaicism,the low proportion of trisomy does not lead to abortion,but can result in abnormal fetal development,which can be detected via ultrasound.Therefore,clinicians need to pay more attention to various aspects of fetal growth and development,combining with imaging,cellular,molecular genetics and other methods to perform comprehensive evaluations of fetuses to provide more reliable genetic counseling for pregnant women.展开更多
目的:分析髓样分化因子88(MyD88)在结直肠癌患者癌组织和癌旁组织中的表达,探讨其表达与结直肠癌患者临床病理参数和预后的关系,阐明MyD88表达的临床意义。方法:收集90例结直肠癌患者的癌组织及其相对应的癌远旁组织标本并分析其临床病...目的:分析髓样分化因子88(MyD88)在结直肠癌患者癌组织和癌旁组织中的表达,探讨其表达与结直肠癌患者临床病理参数和预后的关系,阐明MyD88表达的临床意义。方法:收集90例结直肠癌患者的癌组织及其相对应的癌远旁组织标本并分析其临床病理资料,免疫组织化学法检测MyD88在结直肠癌及癌远旁组织中的表达,应用Image-Pro Plus 6.0软件半定量分析MyD88在不同组织中的表达水平,采用Kaplan-Meier法对90例结直肠癌患者进行生存分析。结果:MyD88在结直肠癌组织中的表达水平明显高于癌远旁组织(P<0.01);MyD88表达水平与结直肠癌患者年龄、性别、肿瘤大小和组织学分化无明显关联(P>0.05),MyD88表达水平与结直肠癌患者临床分期、T分期、M分期和淋巴结转移状态有关联(P<0.05);MyD88高表达组结直肠癌患者生存率明显低于MyD88低表达组(P<0.05)。结论:MyD88在结直肠癌患者癌组织中高表达,且与患者的临床分期、T分期、M分期和淋巴结转移状态有关联。展开更多
为解决医疗资源不足、就诊量日增等问题,需设计基于计算机的乳腺癌图像识别模型,更高效地辅助病理医生的临床诊断工作.然而,现有算法多采用单类别特征完成识别,未充分发挥特征之间互补性.该文提出改进的自适应提升算法:在SIFT、Gist、HO...为解决医疗资源不足、就诊量日增等问题,需设计基于计算机的乳腺癌图像识别模型,更高效地辅助病理医生的临床诊断工作.然而,现有算法多采用单类别特征完成识别,未充分发挥特征之间互补性.该文提出改进的自适应提升算法:在SIFT、Gist、HOG、VGG16特征提取基础上,改进有效区域基因选择(Effective Range Based Gene Selection,ERGS)算法,动态计算特征权重;采用自适应提升算法将弱分类器集成为强分类器,并对其输出的预估概率做ERGS加权,实现多特征融合.实验表明:1)算法识别精准度达86.24%,较最强基线提高3.82%;2)SIFT、Gist、HOG特征之间具有较强互补性,它们有助于准确刻画乳腺癌图像;3)阳性图像更易识别.展开更多
文摘老年人痴呆或认知障碍多由一种以上年龄相关的常见脑部疾病所致。阿尔茨海默病(Alzheimer's disease,AD)是其中最常见的神经变性疾病,且是全球前10位死因中唯一无法治愈或缺乏长期对症疗效的疾病,给个人、家庭和全球经济都带来了巨大的负担。早期及时发现和干预是对抗AD的最佳策略。在过去的30年中,许多研究都提出了降低痴呆风险的方法,2020年《柳叶刀》杂志的痴呆预防报告已阐明通过应对风险因素可以预防或延缓超过40%的痴呆。然而,目前全球医疗体系尚未具备早期或及时发现AD的足够能力。最近的一项研究发现,只有不到10%的轻度认知障碍(mild cognitive impairment,MCI)是在初级医疗机构中诊断出来的。近来,抗淀粉样蛋白β(Amyloid beta,Aβ)抗体药物lecanemab和donanemab被批准上市用于早期AD治疗,以及30年的随访研究证明改善风险因素显著减少AD痴呆的发病率并延长了寿命,使得人们对AD早期识别的关注迅速增加。阿尔茨海默病防治协会(China Association for Alzheimer's Disease,CAAD)认识到居家早期和及时发现AD的重要性,并成立了一个由协会成员、临床医生和研究人员组成的全球AD多领域专家团队,就以下目标达成共识:①为个人、家庭、社区、协会和组织提供专家指导意见;②介绍用于认知障碍和痴呆居家筛查的数字工具和可用资源,并为AD高危人群或疑似患者制定下一步应对策略;③讨论现有可用或将来可能的居家筛查适宜AD生物标志物;④为未来的改进和全球应用建立可行性框架。专家组对于当前可用的证据、工具和资源进行综述,并进一步考量其在AD居家筛查中的价值。
基金Supported by National Natural Science Foundation of China,No.72104183Shanghai Municipal Health Commission Project,No.20234Y0057+4 种基金Shanghai Sailing Program,No.20YF1444900Shanghai Hospital Association Project,No.X2022142Projects of the Committee of Shanghai Science and Technology,No.20Y11913700Guangdong Association of Clinical Trials(GACT)/Chinese Thoracic Oncology Group(CTONG)and Guangdong Provincial Key Lab of Translational Medicine in Lung Cancer,No.2017B030314120Beijing CSCO(Sisco)Clinical Oncology Research Grant,No.Y-HS202101-0205.
文摘BACKGROUND Gastrointestinal neoplasm(GN)significantly impact the global cancer burden and mortality,necessitating early detection and treatment.Understanding the evolution and current state of research in this field is vital.AIM To conducts a comprehensive bibliometric analysis of publications from 1984 to 2022 to elucidate the trends and hotspots in the GN risk assessment research,focusing on key contributors,institutions,and thematic evolution.METHODS This study conducted a bibliometric analysis of data from the Web of Science Core Collection database using the"bibliometrix"R package,VOSviewer,and CiteSpace.The analysis focused on the distribution of publications,contributions by institutions and countries,and trends in keywords.The methods included data synthesis,network analysis,and visualization of international collaboration networks.RESULTS This analysis of 1371 articles on GN risk assessment revealed a notable evolution in terms of research focus and collaboration.It highlights the United States'critical role in advancing this field,with significant contributions from institutions such as Brigham and Women's Hospital and the National Cancer Institute.The last five years,substantial advancements have been made,representing nearly 45%of the examined literature.Publication rates have dramatically increased,from 20 articles in 2002 to 112 in 2022,reflecting intensified research efforts.This study underscores a growing trend toward interdisciplinary and international collaboration,with the Journal of Clinical Oncology standing out as a key publication outlet.This shift toward more comprehensive and collaborative research methods marks a significant step in addressing GN risks.CONCLUSION This study underscores advancements in GN risk assessment through genetic analyses and machine learning and reveals significant geographical disparities in research emphasis.This calls for enhanced global collaboration and integration of artificial intelligence to improve cancer prevention and treatment accuracy,ultimately enhancing worldwide patient care.
文摘BACKGROUND The clinical manifestations of trisomy 7 mosaicism are diverse and nonspecific,so prenatal diagnosis is very difficult.CASE SUMMARY Two pregnant women with abnormal prenatal screening results were included.One was a 22-year-old woman(G1P0).At 31st week of gestation,ultrasound revealed that the posterior horn of the left lateral ventricle was 10 mm and the right renal pelvis had a separation of 7 mm.The other pregnant woman was 33 years old(G2P1L1A0),and her fetus was found to have a cardiac malformation at the 24th week of gestation.Copy number variation sequencing,whole-exome sequencing and karyotype analysis were carried out after amniocentesis,and both fetuses were diagnosed with trisomy 7 mosaicism.After parental counseling,one woman continued the pregnancy,and the other woman terminated the pregnancy.CONCLUSION In trisomy 7 mosaicism,the low proportion of trisomy does not lead to abortion,but can result in abnormal fetal development,which can be detected via ultrasound.Therefore,clinicians need to pay more attention to various aspects of fetal growth and development,combining with imaging,cellular,molecular genetics and other methods to perform comprehensive evaluations of fetuses to provide more reliable genetic counseling for pregnant women.
文摘目的:分析髓样分化因子88(MyD88)在结直肠癌患者癌组织和癌旁组织中的表达,探讨其表达与结直肠癌患者临床病理参数和预后的关系,阐明MyD88表达的临床意义。方法:收集90例结直肠癌患者的癌组织及其相对应的癌远旁组织标本并分析其临床病理资料,免疫组织化学法检测MyD88在结直肠癌及癌远旁组织中的表达,应用Image-Pro Plus 6.0软件半定量分析MyD88在不同组织中的表达水平,采用Kaplan-Meier法对90例结直肠癌患者进行生存分析。结果:MyD88在结直肠癌组织中的表达水平明显高于癌远旁组织(P<0.01);MyD88表达水平与结直肠癌患者年龄、性别、肿瘤大小和组织学分化无明显关联(P>0.05),MyD88表达水平与结直肠癌患者临床分期、T分期、M分期和淋巴结转移状态有关联(P<0.05);MyD88高表达组结直肠癌患者生存率明显低于MyD88低表达组(P<0.05)。结论:MyD88在结直肠癌患者癌组织中高表达,且与患者的临床分期、T分期、M分期和淋巴结转移状态有关联。
文摘为解决医疗资源不足、就诊量日增等问题,需设计基于计算机的乳腺癌图像识别模型,更高效地辅助病理医生的临床诊断工作.然而,现有算法多采用单类别特征完成识别,未充分发挥特征之间互补性.该文提出改进的自适应提升算法:在SIFT、Gist、HOG、VGG16特征提取基础上,改进有效区域基因选择(Effective Range Based Gene Selection,ERGS)算法,动态计算特征权重;采用自适应提升算法将弱分类器集成为强分类器,并对其输出的预估概率做ERGS加权,实现多特征融合.实验表明:1)算法识别精准度达86.24%,较最强基线提高3.82%;2)SIFT、Gist、HOG特征之间具有较强互补性,它们有助于准确刻画乳腺癌图像;3)阳性图像更易识别.
