检索结果-南通市图书馆

Identification of a novel MYO1D variant associated with laterality defects,congenital heart diseases,and sperm defects in humans

引用

Frontiers of Medicine 2024年第3期18卷 558-564页

作者： Zhuangzhuang Yuan Xin Zhu Xiaohui Xie Chenyu Wang Heng Gu Junlin Yang Liangliang Fan Rong Xiang Yifeng Yang Zhiping Tan department of cardiovascular surgery The Second Xiangya Hospital of Central South UniversityChangsha410011China Clinical Center for Gene Diagnosis and Therapy The Second Xiangya Hospital of Central South UniversityChangsha410011China department of Cell Biology School of Life SciencesCentral South UniversityChangsha410013China department of Gynecology and Obstetrics Xiangya Hospital of Central South UniversityChangsha410008China

The establishment of left–right asymmetry is a fundamental process in animal *** with this process leads to a range of disorders collectively known as laterality defects,which manifest as abnormal arrangements of visceral *** patients with laterality defects,congenital heart diseases(CHD)are *** multiple model organisms,extant research has established that myosin-Id(MYO1D)deficiency causes laterality *** study investigated over a hundred cases and identified a novel biallelic variant of MYO1D(NM_015194:c.1531G>A;p.D511N)in a consanguineous family with complex CHD and laterality *** examination of the proband revealed asthenoteratozoospermia and shortened ***,the effects of the D511N variant and another known MYO1D variant(NM_015194:c.2293C>T;p.P765S)were *** assessment showed that both enhance the interaction withβ-actin and ***,this study revealed the genetic heterogeneity of this rare disease and found that MYO1D variants are correlated with laterality defects and CHD in ***,this research established a connection between sperm defects and MYO1D *** offers guidance for exploring infertility and reproductive health *** findings provide a critical basis for advancing personalized medicine and genetic counseling.

关键词： MYO1D laterality defect congenital heart disease sperm defect β-actin SPAG6

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Multifaceted functions of Drp1 in hypoxia/ischemia-induced mitochondrial quality imbalance: from regulatory mechanism to targeted therapeutic strategy

引用

Military Medical Research 2024年第4期 589-615页

作者： Shuai Hao He Huang Rui-Yan Ma Xue Zeng Chen-Yang Duan department of Anesthesiology the Second Affiliated Hospital of Chongqing Medical University Research Institute of General surgery Jinling HospitalAffiliated Hospital of Medical SchoolNanjing University department of cardiovascular surgery Xinqiao HospitalArmy Medical University Institute for Brain Science and Disease Chongqing Medical University

Hypoxic-ischemic injury is a common pathological dysfunction in clinical settings. Mitochondria are sensitive organelles that are readily damaged following ischemia and hypoxia. Dynamin-related protein 1 (Drp1) regulates mitochondrial quality and cellular functions via its oligomeric changes and multiple modifications, which plays a role in mediating the induction of multiple organ damage during hypoxic-ischemic injury. However, there is active controversy and gaps in knowledge regarding the modification, protein interaction, and functions of Drp1, which both hinder and promote development of Drp1 as a novel therapeutic target. Here, we summarize recent findings on the oligomeric changes, modification types, and protein interactions of Drp1 in various hypoxic-ischemic diseases,as well as the Drp1-mediated regulation of mitochondrial quality and cell functions following ischemia and ***, potential clinical translation prospects for targeting Drp1 are discussed. This review provides new ideas and targets for proactive interventions on multiple organ damage induced by various hypoxic-ischemic diseases.

关键词：

来源：

同方期刊数据库评论

在线全文

同方期刊数据库

学校读者我要写书评

暂无评论

Precise genome-editing in human diseases:mechanisms,strategies and applications

引用

Signal Transduction and Targeted Therapy 2024年第3期9卷 1065-1085页

作者： Yanjiang Zheng Yifei Li Kaiyu Zhou Tiange Li Nathan J.VanDusen Yimin Hua Key Laboratory of Birth Defects and Related Diseases of Women and Children of MOE Department of PediatricsWest China Second University HospitalSichuan UniversityChengduSichuan 610041China department of cardiovascular surgery West China HospitalSichuan UniversityChengduSichuan 610041China department of Pediatrics Herman B Wells Center for Pediatric ResearchIndiana University School of MedicineIndianapolisIN 46202USA

Precise genome-editing platforms are versatile tools for generating specific,site-directed DNA insertions,deletions,and *** continuous enhancement of these tools has led to a revolution in the life sciences,which promises to deliver novel therapies for genetic *** genome-editing can be traced back to the 1950s with the discovery of DNA’s doublehelix and,after 70 years of development,has evolved from crude in vitro applications to a wide range of sophisticated capabilities,including in vivo ***,precise genome-editing faces constraints such as modest efficiency,delivery challenges,and off-target *** this review,we explore precise genome-editing,with a focus on introduction of the landmark events in its history,various platforms,delivery systems,and ***,we discuss the landmark events in the history of precise ***,we describe the current state of precise genome-editing strategies and explain how these techniques offer unprecedented precision and versatility for modifying the human ***,we introduce the current delivery systems used to deploy precise genome-editing components through DNA,RNA,and ***,we summarize the current applications of precise genome-editing in labeling endogenous genes,screening genetic variants,molecular recording,generating disease models,and gene therapy,including ex vivo therapy and in vivo therapy,and discuss potential future advances.

关键词： precise generating editing

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

The activity and immune dynamics of PD-1 inhibition on high-risk pulmonary ground glass opacity lesions:insights from a single-arm,phase II trial

引用

Signal Transduction and Targeted Therapy 2024年第5期9卷 2202-2214页

作者： Bo Cheng Caichen Li Jianfu Li Longlong Gong Peng Liang Ying Chen Shuting Zhan Shan Xiong Ran Zhong Hengrui Liang Yi Feng Runchen Wang Haixuan Wang Hongbo Zheng Jun Liu Chengzhi Zhou Wenlong Shao Yuan Qiu Jiancong Sun Zhanhong Xie Zhu Liang Chenglin Yang Xiuyu Cai Chunxia Su Wei Wang Jianxing He Wenhua Liang department of thoracic surgery and Oncology the First Affiliated Hospital of Guangzhou Medical UniversityGuangzhou Institute of Respiratory HealthState Key Laboratory of Respiratory DiseaseNational Clinical Research Center for Respiratory DiseaseGuangzhouChina Medical department Genecast Biotechnology Co.LtdWuxiChina department of Radiation Oncology the First Affiliated Hospital of Guangzhou Medical UniversityGuangzhouChina department of Respiratory Medicine the First Affiliated Hospital of Guangzhou Medical UniversityGuangzhou Institute of Respiratory HealthState Key Laboratory of Respiratory DiseaseNational Clinical Research Center for Respiratory DiseaseGuangzhouChina department of Cardiothoracic surgery Affiliated Hospital of Guangdong Medical UniversityZhanjiangChina department of thoracic surgery National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital&Shenzhen HospitalChinese Academy of Medical Sciences and Peking Union Medical CollegeShenzhenChina department of VIP Inpatient Sun Yat-sen University Cancer CenterState Key Laboratory of Oncology in South ChinaSun Yat-sen UniversityGuangzhouChina department of Medical Oncology Shanghai Pulmonary HospitalSchool of MedicineTongji UniversityShanghaiChina

Immune checkpoint inhibitors targeting the programmed cell death-1(PD-1)protein significantly improve survival in patients with advanced non-small-cell lung cancer(NSCLC),but its impact on early-stage ground-glass opacity(GGO)lesions remains *** is a single-arm,phase II trial(NCT04026841)using Simon’s optimal two-stage design,of which 4 doses of sintilimab(200 mg per 3 weeks)were administrated in 36 enrolled multiple primary lung cancer(MPLC)patients with persistent high-risk(Lung-RADS category 4 or had progressed within 6 months)*** primary endpoint was objective response rate(ORR).T/B/NK-cell subpopulations,TCR-seq,cytokines,exosomal RNA,and multiplexed immunohistochemistry(mIHC)were monitored and compared between responders and ***,two intent-to-treat(ITT)lesions(pure-GGO or GGO-predominant)showed responses(ORR:5.6%,2/36),and no patients had progressive disease(PD).No grade 3-5 TRAEs *** total response rate considering two ITT lesions and three non-intent-to-treat(NITT)lesions(pure-solid or solid-predominant)was 13.9%(5/36).The proportion of CD8^(+)T cells,the ratio of CD8^(+)/CD4^(+),and the TCR clonality value were significantly higher in the peripheral blood of responders before treatment and decreased over ***,the mIHC analysis showed more CD8^(+)T cells infiltrated in ***,responders’cytokine concentrations of EGF and CTLA-4 increased during *** exosomal expression of fatty acid metabolism and oxidative phosphorylation gene signatures were down-regulated among ***,PD-1 inhibitor showed certain activity on high-risk pulmonary GGO lesions without safety *** effects were associated with specific T-cell re-distribution,EGF/CTLA-4 cytokine compensation,and regulation of metabolism pathways.

关键词： lesions metabolism doses

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Clinical and genomic analysis of baseline and acquired MET fusions with an intact kinase domain in lung cancer patients

引用

Genes & Diseases 2024年第1期11卷 76-79页

作者： Bo Jin Yutong Ma Qian Wu Qiuxiang Ou Yang Shao Shun Xu department of Medical Oncology The First Hospital of China Medical UniversityShenyangLiaoning 110001China Geneseeq Research Institute Nanjing Geneseeq Technology Inc.NanjingJiangsu 210000China School of Public Health Nanjing Medical UniversityNanjingJiangsu 211166China department of thoracic surgery The First Hospital of China Medical UniversityShenyangLiaoning110001China

MET gene alterations in lung cancer patients mainly include exon 14 skipping and gene amplification,which are the key therapeutic targets and drive resistance to tyrosine kinase inhibitors(TKls).1 However,the structural variants of MET,such as MET fusions,are much rarer(0.26%),as reported in a Chinese non-small cell lung cancer(NSCLC)cohort.2 Several recurrent MET fusions,such as KIF5B-MET and HLADRB1-MET,were reported as oncogenic drivers and showed favorable responses to crizotinib.

关键词： lung patients alterations

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Unroofing Technique for Anomalous Origin of the Left Coronary Artery from the Right Sinus of Valsalva: Report of a Case

引用

World Journal of cardiovascular surgery 2024年第6期14卷 69-77页

作者： Keisuke Morimoto Futoshi Kobayashi Hiromu Horie Yuki Sakaguchi Einosuke Mizuta department of cardiovascular surgery Sanin Rosai Hospital Yonago Japan department ofCardiology Sanin Rosai Hospital Yonago Japan

Anomalous origin of the left coronary artery (AOLCA) from the right sinus of Valsalva constitutes a rare congenital coronary artery anomaly. Patients with an anomalous left main coronary artery face a significantly higher risk of sudden cardiac death compared to those with an anomalous right coronary artery. The anomalous coronary artery traversing between the ascending aorta and the pulmonary artery markedly heightens the risk of myocardial ischemia, arrhythmia, and sudden death. Symptomatic patients often exhibit a longer intramural course of the coronary artery, which may necessitate earlier intervention or influence the choice of surgical repair method. Surgical intervention is advocated for patients with this anomaly, even in the absence of symptoms. For anomalous aortic origin of a coronary artery from the opposite sinus of Valsalva with an intramural course, coronary unroofing is the preferred revascularization procedure. This report presents a case of AOLCA originating from the right sinus of Valsalva, treated surgically using the unroofing technique for the aortic intramural segment of the anomalous coronary artery traversing between the great vessels. The unroofing technique is recommended for treating AOLCA with an extensive intramural course that does not involve the commissure.

关键词： Unroofing Technique Anomaly of Coronary Artery Anomalous Origin of Left Coronary Artery

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Metabolomics signature of blood pressure salt sensitivity and its link to cardiovascular disease:A dietary salt-intervention trial

引用

Science China(Life Sciences) 2024年第8期67卷 1666-1675页

作者： Zhennan Lin Jianxin Li Fangchao Liu Jie Cao Shufeng Chen Jichun Chen Keyong Huang Yaqin Wang Hongfan Li Yan Wang Jianfeng Huang Dongfeng Gu Xiangfeng Lu Key Laboratory of cardiovascular Epidemiology Department of EpidemiologyFuwai HospitalChinese Academy of Medical Sciences and Peking Union Medical College/National Center for Cardiovascular DiseasesBeijing 100037China Medical School Southern University of Science and TechnologyShenzhen 518055China

Individuals with a high degree of salt sensitivity(SS)have a greater risk of cardiovascular disease(CVD),but whether SS fosters CVD by influencing metabolomics homeostasis remains *** study aimed to reveal the role of the SS-related metabolomics signature in the development of CVDs,based on the MetaSalt study,which was a dietary salt-intervention trial conducted at four centers in China in 2019.A total of 528 participants were recruited and underwent 3 days of baseline observations,a 10-day low-salt intervention,and a 10-day highsalt *** untargeted metabolomics,lipidomics,and BP measurements were scheduled at each *** were grouped into extreme SS,moderate SS,and salt-resistant(SR)individuals according to their BP responses to *** mixed models were used to identify SS-related metabolites and determine the relationship between the SS-related metabolomics signature and arterial *** randomization(MR)analyses were applied to establish the causal pathways among the SS-related metabolites,BP,and *** the 713 metabolites,467 were significantly changed after the high-salt *** them,the changes in 30 metabolites from the low-salt to the high-salt intervention differed among the SS *** the remaining nonsalt-related metabolites,the baseline levels of 11 metabolites were related to *** 41 metabolites explained 23%of the variance in ***,SS and its metabolomics signature were positively correlated with arterial *** analyses demonstrated that the SS-related metabolites may affect CVD risk by altering BP,indicating that the increase in BP was the consequence of the changes in SS-related metabolites rather than the *** study revealed that the metabolomics signature of SS individuals differs from that of SR individuals and that the changes in SS-related metabolites may increase arterial stiffness and foster *** study provides insight into understanding the biolog

关键词： salt sensitivity dietary salt intake metabolomics Mendelian randomization cardiovascular disease

来源：

维普期刊数据库

同方期刊数据库

同方期刊数据库评论

在线全文

学校读者我要写书评

暂无评论

A rechargeable Ca/Cl2 battery

引用

Science China Chemistry 2024年第9期67卷 2794-2795页

作者： Shixun Wang Chunyi Zhi department of Materials Science and Engineering City University of Hong Kong Hong Kong Center for Cerebro-cardiovascular Health Engineering (COCHE)

Multivalent metal-ion batteries have attracted wide attention with the expectation of tackling the needs of large-scale electrochemical energy storage [1]. Among them, rechargeable calcium （Ca）-ion batteries are known as a promising alternative to conventional lithium （Li）-ion batteries due to the high abundance of calcium （the fifth most abundant element in the earth’s crust） and its large theoretical capacity (2,073 m Ah cm-3) and potential （-2.87 V vs. standard hydrogen electrode, SHE） comparable to that of Li （-3.04 V ***）. Furthermore, unlike monovalent cations, the divalent calcium cations favor a two-electron transfer to increase the specific energies [2].

关键词：

来源：

同方期刊数据库评论

在线全文

同方期刊数据库

学校读者我要写书评

暂无评论

Association of stage 1 hypertension defined by the 2017 ACC/AHA guideline with cardiovascular events and mortality in Chinese adults

引用

Chinese Medical Journal 2024年第1期137卷 63-72页

作者： Qiannan Gao Liuxin Li Jingjing Bai Luyun Fan Jiangshan Tan Shouling Wu Jun Cai Hypertension Center Fuwai HospitalState Key Laboratory of Cardiovascular DiseaseNational Center for Cardiovascular DiseasesPeking Union Medical CollegeChinese Academy of Medical SciencesBeijing 100037China department of Cardiology Kailuan General HospitalNorth China University of Science and TechnologyTangshanHebei 063000China Emergency Center Fuwai HospitalState Key Laboratory of Cardiovascular DiseaseNational Center for Cardiovascular DiseasesPeking Union Medical CollegeChinese Academy of Medical SciencesBeijing 100037China

Background:The 2017 American College of Cardiology/American Heart Association(ACC/AHA)blood pressure(BP)guideline lowered the threshold defining hypertension to 130/80 ***,how stage 1 hypertension defined using this guideline is associated with cardiovascular events in Chinese adults remains *** study assessed the association between stage 1 hypertension defined by the 2017 ACC/AHA guideline and clinical outcomes in the Chinese ***:Participants with stage 1 hypertension(n=69,509)or normal BP(n=34,142)were followed in this study from 2006/2007 to *** 1 hypertension was defined as a systolic blood pressure of 130-139 mmHg or a diastolic blood pressure of 80-89 *** were taking antihypertensive medication or had a history of myocardial infarction(MI),stroke,or cancer at *** primary outcome was a composite of MI,stroke,and all-cause *** secondary outcomes were individual components of the primary *** proportional hazards models were used for the ***:During a median follow-up of 11.09 years,we observed 10,479 events(MI,n=995;stroke,n=3408;all-cause mortality,n=7094).After multivariable adjustment,the hazard ratios for stage 1 hypertension *** BP were 1.20(95%confidence interval[CI],1.13-1.25)for primary outcome,1.24(95%CI,1.05-1.46)for MI,1.45(95%CI,1.33-1.59)for stroke,and 1.11(95%CI,1.04-1.17)for all-cause *** hazard ratios for participants with stage 1 hypertension who were prescribed antihypertensive medications compared with those without antihypertensive treatment during the follow-up was 0.90(95%CI,0.85-0.96).Conclusions:Using the new definition,Chinese adults with untreated stage 1 hypertension are at higher risk for MI,stroke,and all-cause *** finding may help to validate the new BP classification system in China.

关键词： Hypertension cardiovascular disease All-cause mortality Cox regression analysis

来源：

维普期刊数据库

同方期刊数据库评论

在线全文

学校读者我要写书评

暂无评论

Do changes in intracoronary pressure aid coronary spasm diagnosis using the spasm provocation test?

引用

World Journal of Cardiology 2024年第1期16卷 16-26页

作者： Hiroki Teragawa Chikage Oshita Yuko Uchimura department of cardiovascular Medicine JR Hiroshima HospitalHiroshima 732-0057Japan

BACKGROUND Although the spasm provocation test(SPT)can diagnose coronary spasms,it would be helpful if it could also predict their *** To investigate whether coronary spasms can be predicted using changes in intracoronary artery pressure measured using a pressure wire during the *** Seventy patients underwent SPTs with pressure-wire measurement of intracoronary artery *** each SPT,the pressure wire was advanced into the distal portion of the right coronary artery(RCA)and left anterior descending coronary artery,and the ratio of intracoronary pressure to aortic pressure(Pd/Pa)was *** spasm was defined as an arterial narrowing of>90%in response to the administration of acetylcholine(ACh),with chest symptoms and/or ischemic electrocardiographic *** was administered to the RCA at low,moderate,or high doses of 20,50,or 80μg,respectively,and to the left coronary artery(LCA)at low,moderate,or high doses of 50,100,or 200μg,*** arteries with coronary spasms at low doses of ACh were defined as group L,and those with coronary spasms at moderate or high doses were defined as group *** who did not occur coronary spasms at any ACh dose were designated as group *** Among the 132 coronary arteries assessed using a pressure wire,there were 49 in group N,25 in group L,and 58 in group *** Pd/Pa was the lowest in group L(P=0.001).The decrease in the Pd/Pa between baseline to low doses of ACh was lower in group MH than in group N(P<0.001).A receiver-operating characteristics analysis showed that the cutoff baseline Pd/Pa value for predicting group L was 0.95,with a sensitivity of 0.600(15/25)and a specificity of 0.713(76/107)and that the cutoff value of Pd/Pa from baseline to low doses of ACh for predicting group MH was−0.04,with a sensitivity of 0.741(43/58)and a specificity of 0.694(34/49).CONCLUSION These findings suggest that indices of intracoronary pressure during SPT may be useful means for

关键词： Acetylcholine Coronary spasm Intracoronary pressure Pressure wire Spasm provocation test Vasospastic angina

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

欢迎您,

建议与咨询留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

时间限定

文献类型

馆藏选择

核心期刊

语言

文献类型

帮助

文字说明：

检索规则说明：

检索范例：

分类表

所选分类

限定检索结果

文献类型

馆藏范围

日期分布

学科分类号

主题

机构

作者

语言

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

请选择保存的检索档案：

请选择收藏分类：

通借通还

欢迎您,

建议与咨询 留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

时间限定

文献类型

馆藏选择

核心期刊

语言

文献类型

帮助

文字说明：

检索规则说明：

检索范例：

分类表

所选分类

限定检索结果

文献类型

馆藏范围

日期分布

学科分类号

主题

机构

作者

语言

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

请选择保存的检索档案： 新增检索档案 确定 取消

请选择收藏分类： 新增自定义分类 确定 取消

通借通还

建议与咨询留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

请选择保存的检索档案：

请选择收藏分类：