TSC/MTOR基因突变在肾细胞肿瘤中的研究进展

TSC/MTOR基因突变在多种肾细胞肿瘤中被发现,这些肿瘤的形态学谱系十分宽广,并且具有不同的免疫表型、分子遗传学特征和临床表现。因此,不能将伴有TSC/MTOR基因突变的肾细胞肿瘤笼统地归为一类。鉴于该基因涉及特异的靶向治疗,该文就TSC/MTOR基因在相应的肾细胞肿瘤中的突变类型及可能的致病机制作一综述,以期为临床及病理工作起到指导和帮助作用。

新发TSC2基因位点突变致儿童结节性硬化症并色素脱斑相关癫痫

结节性硬化症(tuberous sclerosis complex,TSC)是一种常染色体显性遗传的神经皮肤综合征,以累及多个器官系统为特点。TSC1和TSC2是TSC两个主要的致病基因,二者中任一基因的突变可导致蛋白质结构变化从而导致功能改变,最终表现为TSC的各种临床表型。目前,已有多个TSC相关的TSC2和TSC1位点突变被发现。然而,临床接诊过程中,我们收治了1例尚未见报道的TSC2基因c.4569+1G>T杂合突变相关的癫痫发作伴色素脱斑的儿童TSC,在此予以报道,以期为TSC相关疾病的临床诊断及研究提供线索。

Intelligent Small Sample Defect Detection of Concrete Surface Using Novel Deep Learning Integrating Improved YOLOv5

Dear Editor,This letter presents an intelligent small sample defect detection of concrete surface using novel deep learning integrating the improved YOLOv5 based on the Wasserstein GAN(WGAN)enhancement algorithm.The proposed method is capable of producing top-notch data sets to address the issues of insufficient samples and substandard quality.

Utilization of Basalt Saw Mud as a Spherical Porous Functional Aggregate for the Preparation of Ordinary Structure Concrete

To promote the production and application of artificial aggregates,save natural sand resources and protect the ecological environment,we evaluated the feasibility of using spherical porous functional aggregates(SPFAs) formed by basalt saw mud under autoclave curing in ordinary structural concrete.In our work,two types of prewetted functional aggregates were taken as replacements for natural aggregates with different volume substitution rates(0%,5%,10%,15%,20%,25%,and 30%) in the preparation of ordinary structural concrete with water-to-binder ratios(W/B) of 0.48 and 0.33.The effects of the functional aggregate properties and content,W/B,and curing age on the fluidity,density,mechanical properties and autogenous shrinkage of ordinary concrete were analyzed.The experimental results showed that the density of concrete declined at a rate of not more than 5%,and the 28 d compressive strength could reach 31.0-68.2 MPa.Low W/B,long curing age and high-quality functional aggregates were conducive to enhancing the mechanical properties of SPFAs concrete.Through the rolling effects,SPFAs can optimize the particle gradation of aggregate systems and improve the fluidity of concrete,and the water stored inside SPFAs provides an internal curing effect,which prolongs the cement hydration process and considerably reduces the autogenous shrinkage of concrete.SPFAs exhibits high strength and high density,as well as being more cost-effective and ecological,and is expected to be widely employed in ordinary structural concrete.

TSC2/PKD1邻接基因综合征的临床特征及遗传学分析:病例系列研究

背景TSC2/PKD1邻接基因综合征(TSC2/PKD1 contiguous deletion syndrome,PKDTS)是TSC2与PKD1基因缺失导致的疾病,国内鲜有报道。目的总结5例TSC2/PKD1邻接基因综合征患儿的临床表型和遗传学特征。方法回顾性分析2015—2023年于解放军总医院儿科就诊的4例PKDTS患儿以及于山东第一医科大学附属省立医院就诊的1例PKDTS患儿病例资料,采集患儿及其父母的外周血样,分别利用不同的分子生物学方法进行基因检测。结果5例PKDTS患者均以癫痫起病,有相似的临床特征,包括皮肤色素脱失斑、颅内结节、多囊肾、肾功能异常、高血压等,伴有不同程度的发育迟缓,兼具结节性硬化(TSC)和常染色体显性多囊肾疾病(autosomal dominant polycystic kidney disease,ADPKD)的表型。雷帕霉素可以辅助控制TSC相关癫痫发作;严重肾囊肿患者需要穿刺抽液+药物凝固治疗来缓解症状。基因检测结果显示5例患儿分别存在TSC2/PKD1基因不同大小和区域的缺失:病例1,chr16:2131595-2264778区域存在133.18 kb的缺失;病例2,TSC2基因31~42号外显子和PKD1基因30~46号外显子缺失,长度17.64 kb;病例3,chr16:g.2114201-2185990区域存在缺失,长度为71.789 kb;病例4,chr16:2125441-2176668区域缺失拷贝数51.22 kb;病例5,16p13.3(16:2099825-2151077)区域缺失,覆盖51.25 kb。结论本研究发现TSC2/PKD1缺失程度与临床症状的严重程度之间没有明确关联。利用全基因组测序可以早期精准诊断PKDTS并进行干预,雷帕霉素联合抗癫痫发作药物可较好控制TSC相关癫痫。

High-speed penetration of ogive-nose projectiles into thick concrete targets:Tests and a projectile nose evolution model

The majority of the projectiles used in the hypersonic penetration study are solid flat-nosed cylindrical projectiles with a diameter of less than 20 mm.This study aims to fill the gap in the experimental and analytical study of the evolution of the nose shape of larger hollow projectiles under hypersonic penetration.In the hypersonic penetration test,eight ogive-nose AerMet100 steel projectiles with a diameter of 40 mm were launched to hit concrete targets with impact velocities that ranged from 1351 to 1877 m/s.Severe erosion of the projectiles was observed during high-speed penetration of heterogeneous targets,and apparent localized mushrooming occurred in the front nose of recovered projectiles.By examining the damage to projectiles,a linear relationship was found between the relative length reduction rate and the initial kinetic energy of projectiles in different penetration tests.Furthermore,microscopic analysis revealed the forming mechanism of the localized mushrooming phenomenon for eroding penetration,i.e.,material spall erosion abrasion mechanism,material flow and redistribution abrasion mechanism and localized radial upsetting deformation mechanism.Finally,a model of highspeed penetration that included erosion was established on the basis of a model of the evolution of the projectile nose that considers radial upsetting;the model was validated by test data from the literature and the present study.Depending upon the impact velocity,v0,the projectile nose may behave as undistorted,radially distorted or hemispherical.Due to the effects of abrasion of the projectile and enhancement of radial upsetting on the duration and amplitude of the secondary rising segment in the pulse shape of projectile deceleration,the predicted DOP had an upper limit.

商用车多源TSC1报文请求的仲裁策略研究

随着商用车智能化水平的逐步提升,整车配备的多种智能控制系统均有控制动力源或缓速器需求。通过研究J1939协议对多源TSC1报文请求的仲裁策略,发现当前发动机在车辆中所具有的动力源和缓速器双重身份对现有J1939协议仲裁策略提出了新的挑战。因此对J1939协议的策略进行改进,开发出了一种新的仲裁控制策略。测试结果表明,新策略实现了正确仲裁,即负扭矩请求优先,为整车TSC1控制系统的顶层设计提供了参考。

Numerical parametric study on the influence of location and inclination of large-scale asperities on the shear strength of concreterock interfaces of small buttress dams

When assessing the sliding stability of a concrete dam,the influence of large-scale asperities in the sliding plane is often ignored due to limitations of the analytical rigid body assessment methods provided by current dam assessment guidelines.However,these asperities can potentially improve the load capacity of a concrete dam in terms of sliding stability.Although their influence in a sliding plane has been thoroughly studied for direct shear,their influence under eccentric loading,as in the case of dams,is unknown.This paper presents the results of a parametric study that used finite element analysis(FEA)to investigate the influence of large-scale asperities on the load capacity of small buttress dams.By varying the inclination and location of an asperity located in the concrete-rock interface along with the strength of the rock foundation material,transitions between different failure modes and correlations between the load capacity and the varied parameters were observed.The results indicated that the inclination of the asperity had a significant impact on the failure mode.When the inclinationwas 30and greater,interlocking occurred between the dam and foundation and the governing failure modes were either rupture of the dam body or asperity.When the asperity inclination was significant enough to provide interlocking,the load capacity of the dam was impacted by the strength of the rock in the foundation through influencing the load capacity of the asperity.The location of the asperity along the concrete-rock interface did not affect the failure mode,except for when the asperity was located at the toe of the dam,but had an influence on the load capacity when the failure occurred by rupture of the buttress or by sliding.By accounting for a single large-scale asperity in the concrete-rock interface of the analysed dam,a horizontal load capacity increase of 30%e160%was obtained,depending on the inclination and location of the asperity and the strength of the foundation material.

TSC2型结节性硬化临床表现及影像学特征分析

结节性硬化(TSC)是一种表现多样、可侵及全身多个系统的常染色体显性遗传疾病,其总体发病率为1/6000~10000[1]。既往TSC的诊断标准为两个主要指征或一个主要指征加两个次要指征,然而,2021年国际结节性硬化临床共识会议更新了TSC的诊断标准,其中强调了基因检测的重要性,将TSC1/2基因变异变为一项可以单独诊断TSC的指征,另外一处改动是将之前诊断中的“局灶性皮层发育不良症(FCD)”改为“多发的皮层结节和/或径向迁移线”[2]。本文回顾性分析TSC2变异型TSC患者的临床表现及影像学特征,以期提高对本病的认识。

Fractal Study on the Evolution of Micro-Pores in Concrete Under Freeze-Thaw

After exposure to freeze-thaw cycles, scanning electron microscopy(SEM) and nuclear magnetic resonance(NMR) were used to test the four mixtures. The microstructure is qualitatively analyzed from the 2D SEM image and the 3D pore distribution curve before and after freezing and thawing. The fractal dimension is utilized to characterize the two-dimensional topography image and the three-dimensional pore distribution, quantitatively. The results reveal that the surface porosity and volume porosity increase as the freeze-thaw action increases. Self-similarity characteristics exist in micro-damage inside the concrete. In the fractal dimension, it is possible to characterize pore evolution quantitatively. The fractal dimension correlates with pore damage evolution. The fractal dimension effectively quantitatively characterizes micro-damage features at various scales from the local to the global level.

Mesoscale Mechanical Properties and Influencing Factors of Concrete under Uniaxial Tension

Monte Carlo simulations were carried out to generate a mesoscale model of concrete with randomly packed aggregates with different shapes and sizes.The mechanical properties of concrete specimens under uniaxial tensile loads were studied using statistical results.The results indicated that the entire process of damage and failure of specimens exhibited mainly two failure types:fracture patternsⅠandⅡ.Furthermore,the influences of the aggregate content ratio,aggregate shape,aggregate size,interfacial transition zone(ITZ)strength,and porosity ratio on the concrete specimens were analyzed.The numerical simulation results showed that the elastic modulus of the concrete specimens increased approximately linearly with the aggregate volume ratio but decreased linearly with the porosity and was not affected by the ITZ strength.The tensile strength decreased with the increases in the aggregate content and porosity of the sample,but increased linearly with the ITZ strength.In addition,the aggregate shape led to a difference in the tensile strength of the concrete.

Effects of Initial Defects on Effective Elastic Modulus of Concrete with Mesostructure

An exquisite mesostructure model was presented to predict the effective elastic modulus of concrete,in which concrete is realized as a four-phase composite material consisting of coarse aggregates,mortar matrix,interfacial transition zone(ITZ),and initial defects.With the three-dimensional(3D)finite element(FE)simulation,the highly heterogeneous composite elastic behavior of concrete was modeled,and the predicted results were compared with theoretical estimations for validation.Monte Carlo(MC)simulations were performed with the proposed mesostructure model to investigate the various factors of initial defects influencing the elastic modulus of concrete,such as the shape and concentration(pore volume fraction or crack density)of microspores and microcracks.It is found that the effective elastic modulus of concrete decreases with the increase of initial defects concentration,while the distribution and shape characteristics also exert certain influences due to the stress concentration caused by irregular inclusion shape.

Mechanical Behavior Based on Aggregates Microstructure of Ultra-high Performance Concrete

We developed ultra-high performance concrete(UHPC)incorporating mullite sand and brown corundum sand(BCS),and the quartz sand UHPC was utilized to prepare for comparison.The properties of compressive strength,elastic modulus,ultrasonic pulse velocity,flexural strength,and toughness were investigated.Scanning electron microscopy and nanoindentation were also conducted to reveal the underlying mechanisms affecting macroscopic performance.Due to the superior interface bonding properties between mullite sand and matrix,the compressive strength and flexural toughness of UHPC have been significantly improved.Mullite sand and BCS aggregates have higher stiffness than quartz sand,contributing to the excellent elastic modulus exhibited by UHPC.The stiffness and volume of aggregates have a more significant impact on the elastic modulus of UHPC than interface performance,and the latter contributes more to the strength of UHPC.This study will provide a reference for developing UHPC with superior elastic modulus for structural engineering.

Non-dimensional analysis on blast wave propagation in foam concrete:Minimum thickness to avoid stress enhancement

Foam concrete is a prospective material in defense engineering to protect structures due to its high energy absorption capability resulted from the long plateau stage.However,stress enhancement rather than stress mitigation may happen when foam concrete is used as sacrificial claddings placed in the path of an incoming blast load.To investigate this interesting phenomenon,a one-dimensional difference model for blast wave propagation in foam concrete is firstly proposed and numerically solved by improving the second-order Godunov method.The difference model and numerical algorithm are validated against experimental results including both the stress mitigation and the stress enhancement.The difference model is then used to numerically analyze the blast wave propagation and deformation of material in which the effects of blast loads,stress-strain relation and length of foam concrete are considered.In particular,the concept of minimum thickness of foam concrete to avoid stress enhancement is proposed.Finally,non-dimensional analysis on the minimum thickness is conducted and an empirical formula is proposed by curve-fitting the numerical data,which can provide a reference for the application of foam concrete in defense engineering.

Calculation of Mass Concrete Temperature and Creep Stress under the Influence of Local Air Heat Transfer

Temperature-induced cracking during the construction of mass concrete is a significant concern.Numerical simulations of concrete temperature have primarily assumed that the concrete is placed in an open environment.The problem of heat transfer between the air and concrete has been simplified to the concrete’s heat dissipation boundary.However,in the case of tubular concrete structures,where air inlet and outlet are relatively limited,the internal air temperature does not dissipate promptly to the external environment as it rises.To accurately simulate the temperature and creep stress in tubular concrete structures with enclosed air spaces during construction,we establish an air–concrete coupled heat transfer model according to the principles of conjugate heat transfer,and the accuracy of the model is verified through experiments.Furthermore,we conduct a case study to analyze the impact of airflow within the ship lock corridor on concrete temperature and creep stress.The results demonstrate that enhancing airflow within the corridor can significantly reduce the maximum concrete temperature.Compared with cases in which airflow within the corridor is neglected,the maximum concrete temperature and maximum tensile stress can be reduced by 12.5℃ and 0.7 MPa,respectively,under a wind speed of 4 m/s.The results of the traditional calculation method are relatively close to those obtained at a wind speed of 1 m/s.However,the temperature reduction process in the traditional method is faster,and the method yields greater tensile stress values for the corridor location.

Electrochemical Study of the Corrosion Inhibitory Capacity of Calcined Attapulgite in Reinforced Concrete Medium

The durability of reinforced concrete structures is greatly influenced by the corrosion of the reinforcement. In addition to air pollution related to the repair of corroded structures, chloride ions are the main factors of corrosion of reinforced concrete structures. This study aims to valorize a clay inhibitor against reinforcement corrosion in reinforced concrete. This clay (Attapulgite) was incorporated into reinforced concretes at different percentages of substitution of calcined attapulgite (0%, 5% and 10%) to cement in the formulation. The corrosion inhibitory power of attapulgite is evaluated in reinforced concretes subjected to the action of chloride ions at different intervals in the NaCl solution (1 day, 21 days and 45 days) by electrochemical methods (zero current chronopotentiometry, polarization curves and electrochemical impedance spectroscopy). This study showed that in the presence of chloride ions, the composition based on 10% attapulgite has an appreciable inhibitory effect with an average inhibitory efficiency of 82%.

Effect of Modification Treatment on Chloride Ions Permeability and Microstructure of Recycled Brick-mixed Aggregate Concrete

The modification methods of pozzolan slurry combined with sodium silicate and silicon-based additive were respectively adopted to treat recycled coarse brick-mixed aggregate(RCBA)in this study.The compressive strength and chloride permeability resistance of recycled aggregate concrete(RAC)before and after modification treatment were tested,and the microstructure of RAC was analyzed by mercury intrusion porosimetry(MIP)and scanning electron microscopy(SEM).The results show that the physical properties of RCBA strengthened by modification treatment are improved,and the compressive strength and chloride permeability resistance of treated RAC are also significantly improved.The modification treatment optimizes the pore size distribution of RAC,which increases the number of gel pores and transition pores,and decreases the number of capillary pores and macro pores.The surface fractal dimension shows a significant correlation with chloride diffusion coefficient,indicating that the variation of chloride permeability of treated RAC is consistent with the microstructure evolution.

Evaluation of internal void related defects in reinforced concrete slab using electromagnetic wave properties

This study aims to develop a damage-detection algorithm based on the electromagnetic wave properties inside a reinforced concrete structure.The proposed method involves employing two algorithms based on data measured using ground-penetrating radar—a common electromagnetic wave method in civil engineering.The possible defect area was identified based on the energy dissipated by the damage in the frequency-wavenumber domain,with the damage localized using the calculated relative permittivity of the measurements.The proposed method was verified through a finite difference time-domain-based numerical analysis and a testing slab with artificial damage.As a result of verification,the proposed method quickly identified the presence of damage inside the concrete,especially for honeycomb-like defects located at the top of the rebar.This study has practical significance in scanning structures over a large area more quickly than other non-destructive testing methods,such as ultrasonic methods.

Calculation of Mass Concrete Temperature Containing Cooling Water Pipe Based on Substructure and Iteration Algorithm

Mathematical physics equations are often utilized to describe physical phenomena in various fields of science and engineering.One such equation is the Fourier equation,which is a commonly used and effective method for evaluating the effectiveness of temperature control measures for mass concrete.One important measure for temperature control in mass concrete is the use of cooling water pipes.However,the mismatch of grids between large-scale concrete models and small-scale cooling pipe models can result in a significant waste of calculation time when using the finite element method.Moreover,the temperature of the water in the cooling pipe needs to be iteratively calculated during the thermal transfer process.The substructure method can effectively solve this problem,and it has been validated by scholars.The Abaqus/Python secondary development technology provides engineers with enough flexibility to combine the substructure method with an iteration algorithm,which enables the creation of a parametric modeling calculation for cooling water pipes.This paper proposes such a method,which involves iterating the water pipe boundary and establishing the water pipe unit substructure to numerically simulate the concrete temperature field that contains a cooling water pipe.To verify the feasibility and accuracy of the proposed method,two classic numerical examples were analyzed.The results showed that this method has good applicability in cooling pipe calculations.When the value of the iteration parameterαis 0.4,the boundary temperature of the cooling water pipes can meet the accuracy requirements after 4∼5 iterations,effectively improving the computational efficiency.Overall,this approach provides a useful tool for engineers to analyze the temperature control measures accurately and efficiently for mass concrete,such as cooling water pipes,using Abaqus/Python secondary development.

Experimental study on the size effect on the equation of state of concretes under shock loading

Adopting the classical theory of hydrocodes,the constitutive relations of concretes are separated into an equation of state(EoS)which describes the volumetric behavior of concrete material and a strength model which depicts the shear properties of concrete.The experiments on the EoS of concrete is always challenging due to the technical difficulties and equipment limitations,especially for the specimen size effect on the EoS.Although some researchers investigate the shock properties of concretes by fly-plate impact tests,the specimens used in their tests are usually in one size.In this paper,the fly-plate impact tests on concrete specimens with different sizes are performed to investigate the size effect on the shock properties of concrete materials.The mechanical background of the size effect on the shock properties are revealed,which is related to the lateral rarefaction effect and the deviatoric stress produced in the specimen.According to the tests results,the modified EoS considering the size effect on the shock properties of concrete are proposed,which the bulk modulus of concrete is unpredicted by up to 20% if size effects are not accounted for.