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

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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 development.Interference with this process leads to a range of disorders collectively known as laterality defects,which manifest as abnormal arrangements of visceral organs.Among patients with laterality defects,congenital heart diseases(CHD)are prevalent.Through multiple model organisms,extant research has established that myosin-Id(MYO1D)deficiency causes laterality defects.This 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 defects.Further examination of the proband revealed asthenoteratozoospermia and shortened sperm.Afterward,the effects of the D511N variant and another known MYO1D variant(NM_015194:c.2293C>T;p.P765S)were assessed.The assessment showed that both enhance the interaction withβ-actin and SPAG6.Overall,this study revealed the genetic heterogeneity of this rare disease and found that MYO1D variants are correlated with laterality defects and CHD in humans.Furthermore,this research established a connection between sperm defects and MYO1D variants.It offers guidance for exploring infertility and reproductive health concerns.The 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

A novel mutation of glycogen synthase kinase-3β leads to a reduced level of GSK3βprotein in a patient with dilated cardiomyopathy

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Genes & Diseases 2024年第1期11卷 84-86页

作者： Ke Gong Zhiping Tan Haidan Liu Xiaobo Liao Xinmin Zhou Bangliang Yin Shi Zeng Yao Yao yifeng yang Li Xie Department of Cardiovascular Surgery The Second Xiangya Hospital of Central South UniversityCentral South UniversityChangshaHunan410011China Department of Ultrasound The Second Xiangya Hospital of Central South UniversityCentral South UniversityChangshaHunan 410011China Department of Blood Transfusion The Second Xiangya Hospital of Central South UniversityCentral South UniversityChangshaHunan 410011China

Dilated cardiomyopathy(DCM)is a frequently inherited heart condition.A familial transmission rate of 20%-35%has been documented,and most of these cases are autosomal dominant.This condition has a high rate of morbidit... 详细信息

关键词： GSK3β cardiomyopathy mortality

Preparation and properties of GO-based lanthanum ion-imprinted polymer,La-IIP-MAA/Fe_(3)O_(4)-GO

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Journal of Rare Earths 2022年第1期40卷 135-142页

作者： Minxin Shi Tianren Lu Xiancai Li yifeng yang College of Chemistry Nanchang UniversityNanchang 330031China

In this article,ion-imprinting technology was used to prepare the lanthanum ion-imprinted polymer,LaIIP-MAA/Fe_(3)O_(4)-GO with magnetic graphene oxide as a carrier and methacrylic acid as a functional monomer.A series of characterizations were performed on the imprinted materials,the adsorptive and selective properties of the imprinted materials for lanthanum ions were explored,and the adsorption process was analyzed with respect to kinetics and thermodynamics.Finally,the reusability of the imprinted materials was studied.The results show that La-IIP-MAA/Fe_(3)O_(4)-GO has good adsorption effects for lanthanum ions,and adsorption equilibrium can be attained in about 20 min.When pH is 6 and the temperature is 35℃,the adsorption capacity reaches 110.98 mg/g.The adsorption process of lanthanum ions is pretty much in line with the quasi-second-order kinetic model and Freundlich isotherm adsorption model.La-IIP-MAA/Fe_(3)O_(4)-GO has good selectivity to lanthanum ions and maintains good effects after repeated use five times.

关键词： Ion-imprinting technology Graphene oxide Adsorption Selectivity Reusability Rare earths

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全膝关节置换中的缺血再灌注损伤

中国组织工程研究 2024年第6期28卷 955-960页

作者：杨毅峰黄健叶楠王琳内蒙古医科大学第二附属医院内蒙古自治区呼和浩特市010000

背景:以往针对缺血再灌注损伤的相关机制、表现、防治已有报道。但对全膝关节置换引起的下肢骨骼肌缺血再灌注损伤研究较少,此文重点对全膝关节置换引起下肢缺血再灌注损伤的发病机制、临床影响及防治方法进行综述。目的:通过对全膝关... 详细信息

背景:以往针对缺血再灌注损伤的相关机制、表现、防治已有报道。但对全膝关节置换引起的下肢骨骼肌缺血再灌注损伤研究较少,此文重点对全膝关节置换引起下肢缺血再灌注损伤的发病机制、临床影响及防治方法进行综述。目的:通过对全膝关节置换引起下肢缺血再灌注损伤的相关文献进行归纳总结,分析其机制、意义,为进一步研究骨骼肌缺血再灌注损伤给出提示。方法:应用计算机检索PubMed数据库、CNKI、万方数据库及维普数据库2000-01-01/2022-04-30发表的相关文章,英文检索词为“ischemia-reperfusion injury,total knee arthroplasty,tourniquet,mechanism,pathophysiology,skeletal muscle,treatment”;中文检索词为“缺血再灌注损伤,全膝人工关节置换术,止血带,机制,病理生理,骨骼肌,治疗”。排除重复性研究及部分相关性较低的基础类文章。最终纳入68篇文献进行综述。结果与结论:(1)缺血再灌注损伤的发病机制与氧自由基、细胞内钙超载、中性粒细胞活化相关,还和高浓度一氧化氮、无复流现象以及细胞凋亡等机制相关,更详尽的机制研究能为将来的防治提供依据;(2)下肢缺血再灌注损伤会造成局部骨骼肌损伤,这可能由手术本身的创伤引起,也可能是缺血再灌注损伤的作用,还需要更有针对性的研究区别二者关系;(3)下肢缺血再灌注损伤甚至会影响远端器官,造成肾脏、肺脏损伤,还会影响局部及全身循环;(4)明确缺血再灌注损伤的影响能为将来的防治指明方向,目前的防治措施主要包括缺血预处理,麻醉药物、抗氧化剂等药物预防;(5)针对全膝关节置换手术引起的下肢骨骼肌缺血再灌注损伤的详细综述,能为将来的诊疗决策提供依据。

关键词：缺血再灌注损伤全膝关节置换止血带机制病理生理骨骼肌治疗

Study on the controllable synthesis of SH-MCM-41 mesoporous materials and their adsorption properties of the La3+, Gd3+and Yb3+

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Chinese Chemical Letters 2019年第12期30卷 2318-2322页

作者： Xiancai Li Tianren Lu Ying Wang yifeng yang College of Chemistry Nanchang University

Sulfhydryl MCM-41(SH-MCM-41) mesoporous materials were prepared via a hydrothermal method,and-SH was successfully imported by a post-grafting method.The structure and surface properties of the materials were characterized using Fourier Transform infrared spectroscopy,X-ray diffraction and Transmission Electron Microscopy analysis.The low concentrations of La^3+,Gd^3+ and Yb^3+ adsorption on the material were investigated.This paper discusses the effects of system factors,such as pH and the solid-liquid ratio,on the performance of the adsorption process.The adsorption thermodynamics and kinetics were also explored.Experimental results indicated that the materials were in good order and had high specific surface area(956 m^2/g) with an average pore diameter of 2.1 nm;the mercapto groups were successfully grafted onto a molecular sieve,and the best grafted amount was 1.46×10^-3 mol/g.The materials showed preferable adsorption of La^3+,Gd^3+ and Yb^3+ with maximum adsorption capacities of560.56 mg/g,467.60 mg/g and 540.68 mg/g,respectively.The adsorption process can be described by the Freundlich isotherm model,and the adsorption data fits pseudo-second-order kinetics.After repeating the elution-regeneration cycle four times,the adsorption capacity of rare earth ions was mostly maintained,indicating that the adsorbent can be regenerated well and recycled to save costs.It has potential in practical application.

关键词： SH-MCM-41 Mesoporous materials Adsorption Regeneration Practical application

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常减压蒸馏装置加工负荷变化及腐蚀风险研究

石化技术 2024年第2期31卷 31-33页

作者：杨毅锋中海沥青股份有限公司山东滨州256600

对常减压蒸馏装置的电脱盐控制情况、加工原料的腐蚀性以及加工负荷变化等方面进行分析,并针对装置的塔顶低温系统和高温部位的腐蚀控制情况以及腐蚀风险进行了系统的评估,并提出了一系列针对腐蚀的控制措施和建议,以确保装置的长期可... 详细信息

对常减压蒸馏装置的电脱盐控制情况、加工原料的腐蚀性以及加工负荷变化等方面进行分析,并针对装置的塔顶低温系统和高温部位的腐蚀控制情况以及腐蚀风险进行了系统的评估,并提出了一系列针对腐蚀的控制措施和建议,以确保装置的长期可靠运行,旨在降低装置内金属材料的腐蚀风险,维护装置性能和延长装置的寿命。

关键词：常减压蒸馏装置腐蚀风险腐蚀损伤控制措施

Tunnel boring machine vibration-based deep learning for the ground identification of working faces

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Journal of Rock Mechanics and Geotechnical Engineering 2021年第6期13卷 1340-1357页

作者： Mengbo Liu Shaoming Liao yifeng yang Yanqing Men Junzuo He Yongliang Huang Department of Geotechnical Engineering Tongji UniversityShanghai200092China Jinan Rail Transit Group Co. Ltd.Jinan250101China

Tunnel boring machine(TBM) vibration induced by cutting complex ground contains essential information that can help engineers evaluate the interaction between a cutterhead and the ground itself.In this study,deep recurrent neural networks(RNNs) and convolutional neural networks(CNNs) were used for vibration-based working face ground identification.First,field monitoring was conducted to obtain the TBM vibration data when tunneling in changing geological conditions,including mixed-face,homogeneous,and transmission ground.Next,RNNs and CNNs were utilized to develop vibration-based prediction models,which were then validated using the testing dataset.The accuracy of the long short-term memory(LSTM) and bidirectional LSTM(Bi-LSTM) models was approximately 70% with raw data;however,with instantaneous frequency transmission,the accuracy increased to approximately 80%.Two types of deep CNNs,GoogLeNet and ResNet,were trained and tested with time-frequency scalar diagrams from continuous wavelet transformation.The CNN models,with an accuracy greater than 96%,performed significantly better than the RNN models.The ResNet-18,with an accuracy of 98.28%,performed the best.When the sample length was set as the cutterhead rotation period,the deep CNN and RNN models achieved the highest accuracy while the proposed deep CNN model simultaneously achieved high prediction accuracy and feedback efficiency.The proposed model could promptly identify the ground conditions at the working face without stopping the normal tunneling process,and the TBM working parameters could be adjusted and optimized in a timely manner based on the predicted results.

关键词： Deep learning Transfer learning Convolutional neural network(CNN) Recurrent neural network(RNN) Ground detection Tunnel boring machine(TBM)vibration Mixed-face ground

孕妇分娩恐惧风险列线图预测模型的构建及验证

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中国循证医学杂志 2024年第2期24卷 155-163页

作者：黄丽萍董志霞杨怡凤唐惠艳华北理工大学护理与康复学院河北唐山063210 唐山市丰南区中医医院妇产科河北唐山063300 唐山市妇幼保健院产科门诊河北唐山063000 天津天狮学院医学院天津301700

目的构建并验证孕妇分娩恐惧风险列线图预测模型。方法采用便利抽样法选取2022年7月至9月河北省唐山市某三级甲等医院675名产检孕妇为建模组,2022年10月至12月唐山市某二级甲等医院290名产检孕妇为验证组。通过Logistic回归分析确定危... 详细信息

目的构建并验证孕妇分娩恐惧风险列线图预测模型。方法采用便利抽样法选取2022年7月至9月河北省唐山市某三级甲等医院675名产检孕妇为建模组,2022年10月至12月唐山市某二级甲等医院290名产检孕妇为验证组。通过Logistic回归分析确定危险因素,采用R 4.1.2软件绘制列线图。结果共6个预测因子进入模型:包括产前教育、文化程度、抑郁、妊娠并发症、焦虑和倾向分娩方式。建模组、验证组受试者工作特征曲线下面积分别为0.834、0.806,最佳临界值分别为0.113、0.200,灵敏度分别为67.2%、77.1%,特异度分别为87.3%、74.0%,约登指数分别为0.545、0.511;建模组、验证组校准图显示实际曲线和理想曲线重合度较好,Hosmer-Lemeshow拟合优度检验结果分别为χ^(2)=6.541(P=0.685)、χ^(2)=5.797(P=0.760),Brier得分分别为0.096、0.117;建模组、验证组决策曲线分析显示当分娩恐惧发生的阈值概率处于0.00~0.70、0.00~0.70时,具有临床实用价值。结论构建的列线图模型具有较好的区分度、校准度及临床适用性,能有效预测孕妇分娩恐惧的发生风险,为临床早期识别高危孕妇和给予针对性干预提供参考。

关键词：分娩恐惧孕妇危险因素列线图预测模型

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右美托咪定抗缺血再灌注损伤的信号通路

中国组织工程研究 2024年第9期28卷 1464-1469页

作者：杨毅峰叶楠王琳郭帅成黄健内蒙古医科大学第二附属医院内蒙古自治区呼和浩特市010000

背景:右旋美托咪定具有抗缺血再灌注损伤的作用,但对其信号通路全面、系统的综述较少。目的:重点对右旋美托咪定在抗氧化应激、抑制炎症、抗凋亡、自噬等机制方面的信号通路进行综述。方法:计算机检索PubMed数据库、中国知网、万方数据... 详细信息

背景:右旋美托咪定具有抗缺血再灌注损伤的作用,但对其信号通路全面、系统的综述较少。目的:重点对右旋美托咪定在抗氧化应激、抑制炎症、抗凋亡、自噬等机制方面的信号通路进行综述。方法:计算机检索PubMed数据库、中国知网、万方数据库及维普数据库的相关文章,英文检索词为“ischemia-reperfusion injury,dexmedetomidine,signal path,oxidative stress,inflammation,apoptosis”;中文检索词为“缺血再灌注损伤,右旋美托咪定,信号通路,氧化应激,炎症,凋亡”。排除重复性研究及部分相关性较低的基础类文章,最终纳入57篇文献进行评价。结果与结论:①右旋美托咪定主要通过抗氧化应激损伤、抗炎、抗细胞凋亡和自噬等多种机制发挥器官保护作用,这其中又涉及众多通路,主要包括Nrf2及其下游蛋白抗氧化应激通路、Toll样受体4家族和核因子κB相关抗炎通路、JAK2/STAT3相关抗炎通路、胆碱能抗炎通路,而且胆碱能通路是众多核因子κB信号通路的上游机制;②PI3K/Akt通路依据其激活的下游信号不同发挥不同的作用,抑制NLRP3炎性体激活,激活内皮型一氧化氮合酶、哺乳动物雷帕霉素靶蛋白、缺氧诱导因子1α等信号分子发挥抗炎作用,激活Bad或Bax残基发挥抗凋亡作用,PI3K/Akt激活糖原合成酶激酶3β可同时发挥抗炎、抗凋亡作用;③右旋美托咪定激活SIRT3介导抗细胞凋亡作用,抑制内质网应激产生抗凋亡作用;④针对右旋美托咪定抗缺血再灌注损伤信号通路的详细综述,能为将来的机制研究及诊疗决策提供依据。

关键词：缺血再灌注损伤右旋美托咪定信号通路氧化应激炎症凋亡