一例DMD基因Alu元件插入突变导致杜氏肌营养不良及其白发症状分析

杜氏肌营养不良(Duchenne muscular dystrophy,DMD)是由DMD基因突变引起的抗肌萎缩蛋白缺乏的一种严重X连锁隐性遗传病,突变形式主要包括外显子缺失和重复、点突变、插入突变等,这些突变通过不同方式影响了抗肌萎缩蛋白的正常表达,最终导致疾病的发生。本研究报告了1例DMD基因第59号外显子(exon 59,E59)插入突变引起的DMD,该患儿相关生化指标明显异常,表现较为明显的DMD早期症状,并出现了多处白发。其母亲和姐姐为携带者,生化指标轻微异常,母亲有轻微临床症状,姐姐无临床症状。其他成员基因和身体状况正常。经测序和序列比对发现,该插入片段为AluYa5亚家族的Alu元件,该片段插入可产生两个终止密码子,末端含一段多聚腺苷酸尾(polyA)。为了解该插入突变对于DMD基因的影响以及与临床症状的关联,通过外显子剪接增强子(exonic splicing enhancer,ESE)预测发现,该插入并不影响E59的剪接,由此推测该插入序列会最终出现在DMD基因的mRNA序列中,插入序列中的2个终止子和polyA很可能会在翻译过程中发挥终止作用,不能产生有功能的抗肌萎缩蛋白,这可能是导致DMD发生的机制。另外该患儿除了典型的DMD症状外,还出现了过早白发症状。本研究首次报道了1例DMD基因编码区插入Alu元件导致的DMD,为研究Alu序列逆转座引发基因突变提供线索,同时扩展了对DMD基因突变的认识。

Enhancement of physicochemical properties and baking quality of broken rice flour through superheated steam

This study investigated the effects of superheated steam(SS)treatment at different temperatures(120℃,150℃,180℃)on the physicochemical properties of broken rice flour and the quality of broken rice cakes.SS treatment at 120℃ significantly enhanced the moisture content of broken rice flour(P<0.05).In contrast,treatments at 150℃ and 180℃ caused decrease of moisture content,amylose leaching,and reduction of damaged starch content.After SS treatment,the pasting properties of broken rice flour increased,along with the rising of storage modulus and loss modulus.The proportion of short chains(DP 6-12)in amylopectin increased from 29.42%to 34.80%(P<0.05),which could delay starch retrogradation.Compared with untreated ones,the SS-150 broken rice cakes showed a significantly higher specific volume(2.96 mL/g,P<0.05),more uniform cell structure,and lower hardness(1.66 N)and chewiness(10.22 mJ).After 7 days of storage,cakes from SS-treated rice flour(150℃ and 180℃)had significantly reduced hardness and chewiness.The study demonstrated that SS treatment could improve the properties of broken rice flour and enhance the quality of broken rice cakes,especially at 150℃ and 180℃.This study presents a method for improving the quality of broken rice flour and rice cakes using superheated steam treatment,addressing challenges related to poor flour characteristics and suboptimal cake quality.The findings offer technical and theoretical support for enhancing rice cake production,contributing to the comprehensive utilization of rice resources.

Research on the Surface Modification of Pure Zirconium by Electron Beam

In this paper, the changes of surface morphology, microstructure, hardness and corrosion resistance of industrial pure zirconium before and after surface modification by high current pulsed electron beam were discussed. The microstructure evolution and surface morphologies of the samples were characterized by using X-ray diffraction (XRD), optical microscopy (OM), scanning electron microscopy (SEM). The experimental results show that sample by high current pulsed electron beam treatment surface melting, martensitic phase transformation occurred, and volcanic crater morphology and fine microstructure in the remelted layer surface;with the increase of number of pulses, after processing the microhardness of the samples also with the increase, 15-pulsed sample microhardness than the original sample increased by 30.9%. Corrosion resistance of samples was studied with the impedance diagram and polarization curve. The electrochemical results show that corrosion resistance of samples by high current pulsed electron beam treatment presents different degrees of change, the 5-pulsed sample in 1 mol HNO3 solution corrosion of the best, and 15-pulsed sample corrosion resistance is even lower than the original sample. Grain refinement, martensite transformation, dislocation and deformation twins are the main reasons for improving the micro hardness and corrosion resistance of the samples.

数字资本对阅读素养影响的机理阐释:认识、路径与模式

数字阅读影响到数字时代国民阅读素养、国家知识文化力量的提升。文章基于国际学生评估项目2018年调查数据,通过结构方程模型研究数字资本、数字阅读对17个国家参与调查的中学生阅读素养的影响及传导路径,发现数字资本、数字阅读频率对阅读素养有显著的影响;数字阅读频率在数字资本与阅读素养之间起着十分重要的中介作用,但会因国家而改变,存在以韩国为代表的数字阅读完全中介—理智型、以斯洛文尼亚为代表的数字阅读部分削弱—理智型、以法国为代表的数字访问主因—理智型、以新加坡为代表的数字阅读强化—效能型、以爱尔兰为代表的数字阅读部分削弱—效能型、以芬兰为代表的数字能力主因—效能型6种模式。数字资本对阅读素养具有直接增益作用,数字阅读在数字资本对阅读素养的影响过程中具有中介效应,国家的经济社会文化背景对影响机制具有调节作用。

吡非尼酮预防食管癌放射性肺炎的初步探索:逆概率处理加权分析

目的:分析食管癌患者放疗期间预防性使用吡非尼酮对放射性肺炎的影响。方法:回顾性收集2017年11月至2020年1月于福建医科大学附属协和医院接受调强放疗(intensity-modulated radiation therapy,IMRT)的胸段食管癌患者资料,按是否使用吡非尼酮将患者分为吡非尼酮组和对照组,通过逆概率处理加权法(inverse probability of treatment weighting,IPTW)将各协变量在两组人群进行加权处理,分析两组人群2级及3级以上放射性肺炎的发生率。结果:共纳入170例符合要求的病例,其中吡非尼酮组40例,对照组130例。中位随访时间22.6个月,通过对年龄、吡非尼酮用药史、放疗剂量、双肺V_(5)及V_(20)等可能影响放射性肺炎发生的临床因素及肺体积剂量参数等进行IPTW法加权分析,加权后两组基线特征标准化均值差值下降99.72%,两组2级以上、3级以上放射性肺炎发生率分别为3.92%vs.14.73%(P=0.0007)及3.92%vs.10.99%(P=0.0141),差异均有统计学意义。多因素Logistic回归分析发现吡非尼酮用药史(2级P=0.0017,3级P=0.0191)、年龄(2级P=0.0336,3级P=0.0028)、放疗剂量(2级P=0.0119,3级P=0.0031)均与2级和3级以上放射性肺炎相关。吡非尼酮组未发现明显的不良反应。结论:接受IMRT治疗食管癌患者,放疗期间同步使用吡非尼酮可有效降低2级及3级以上放射性肺炎的发生,安全性好,值得开展进一步临床研究证实。

中外合作构建翻转课堂的探索

参与中外合作办学的各方应该利用现代信息技术,将辅导学生学习的活动以及相应的提供给学生的资源,由课中翻向课前和课后两端,拓展教学的时间和空间;将学生受到形式、人员和内容限制的学习,翻转为形式具有针对性、辅导者多样以及内容交融的自主学习。通过这两个核心翻转及其次级翻转,帮助学生在受引、受控的状态下,提高外语能力、掌握专业知识与技能,并能够内化与应用。

Growth of covellite crystal onto azurite surface during sulfurization and its response to flotation behavior

In this work,the growth of copper sulfide crystal onto azurite surfaces during sulfurization and its response to flotation are investigated.Filed emission scanning electron microscopy-energy dispersive X-ray spectroscopy(FESEM) and X-ray diffraction(XRD) studies confirmed that the sulfurization of azurite is not limited to the mineral surface,but rather penetrates into the bulk to form covellite crystal(synCuS),creating favorable conditions for the stable adsorption of xanthate and greatly promoting the azurite flotation.Additionally,as demonstrated by X-ray photoelectron spectroscopy(XPS) and time of flight secondary ion mass spectrometry(TOF-SIMS) analyses,a redox reaction occurred during this process,and Cu(Ⅱ) onto the mineral surface was reduced to Cu(Ⅰ).Correspondingly,reduced S^(2-) was oxidized to(S_(2))^(2-),(S_n)^(-2),and even to deeper oxidation state S~0,(S_(x)O_(y))^(n-) and SO_(4)^(2-).Excess sodium sulfide strengthens copper sulfide to form onto the azurite surface,and provides enough raw material for crystal copper sulfide to grow,resulting in the formation of "flake-like" covellite with a better crystallinity.However,the floatability of azurite decreased dramatically under this condition,because the generated massive colloidal copper sulfide in flotation pulp deteriorates the flotation environment,resulting in a decreased effective adsorption of collector onto azurite surfaces.

Role of ammonium sulfate in sulfurization flotation of azurite:Inhibiting the formation of copper sulfide colloid and its mechanism

In this study,the role of(NH_(4))_(2)SO_(4)during the sulfurization of azurite and its response to flotation were investigated.The flotation results showed that adding(NH_(4))_(2)SO_(4)prior to sulfurization decreased the formation of colloid in flotation pulp,and the floatability of the suppressed azurite caused by excess sodium sulfide was restored.After adding(NH_(4))_(2)SO_(4)prior to sulfurization,the formation of Cu(NH_(3))_(n) ^(2+)intermediate products changed the path of the sulfurization reaction,which slowed the direct impact of HSon the azurite surface.The nucleation rate was reduced,and the growth of copper sulfide crystal was improved.Covellite(syn,CuS)with larger crystal grains was formed on the azurite surface,thereby enhancing the mechanical stability of copper sulfide products onto the mineral surface.Therefore,the generated copper sulfide colloid significantly reduced,ultimately promoting the effective adsorption of xanthate on the azurite surface.

Modulation recognition of communication signals based on SCHKS-SSVM

A novel modulation recognition algorithm is proposed by introducing a Chen-Harker-Kanzow-Smale (CHKS) smooth function into the C-support vector machine deformation algorithm. A set of seven characteristic parameters is selected from a range of parameters of communication signals including instantaneous amplitude, phase, and frequency. And the Newton-Armijo algorithm is utilized to train the proposed algorithm, namely, smooth CHKS smooth support vector machine (SCHKS-SSVM). Compared with the existing algorithms, the proposed algorithm not only solves the non-differentiable problem of the second order objective function, but also reduces the recognition error. It significantly improves the training speed and also saves a large amount of storage space through large-scale sorting problems. The simulation results show that the recognition rate of the algorithm can batch training. Therefore, the proposed algorithm is suitable for solving the problem of high dimension and its recognition can exceed 95% when the signal-to-noise ratio is no less than 10 dB.

Column adsorption of Cu(Ⅱ) by polymer-supported nano-iron oxides in the presence of sulfate: Experimental and mathematical modeling

Polymer-supported hydrous iron oxides(HFOs) are promising for heavy metals removal from aqueous systems.The ubiquitous inorganic ligands, e.g., sulfate, are expected to exert considerable impacts on pollutants removal by these hybrid sorbents. Herein, we obtained a hybrid sorbent HFO-PS by encapsulating nanosized HFO into macroporous polystyrene(PS) resin. Both batch and column sorption experiments of Cu(Ⅱ) by HFO-PS were carried out in the presence of sulfate. Obviously, the presence of sulfate is favorable for Cu(Ⅱ) sorption onto HFO-PS.The performances of column Cu(Ⅱ) removal were fitted and predicted with Adams–Bohart, Clark, Thomas and BDST models. Thomas model is suggested best-fit to predict the breakthrough curves. Besides, a linear correlation is observed between breakthrough time and column length based on BDST model, which might be useful for predicting the breakthrough time for Cu(Ⅱ) removal by HFO-PS.

A Dual-Satellite GNSS Positioning Algorithm of High Accuracy in Incomplete Condition

Global navigation satellite system could provide accurate positioning results in signal complete condition. However, the performance is severe when signal denied, especially for the single-mode Bei Dou receiver. This paper proposes a dual-satellite positioning algorithm to promote the positioning performance in the satellite signal gap. The new algorithm utilizes the previous positioning data stored in complete condition to simplify the positioning equations. As the clock bias persists for a short period, this proposed method could work out accurate positioning results by only two visible satellites, without the need of computing the clock bias. Also, the Kalman filtering algorithm is used to smooth the trajectories, and improve the positioning results. During the incomplete period, only two satellites for 30 seconds and three satellites for 60 seconds, the preliminary experiment result shows that, the presented method could provide almost the same positioning results as in complete condition.

改革开放以来中国教育信息化政策育人历程研究——基于政策工具的文本分析

改革开放以来,中国教育信息化得到长足发展,政策体系不断完善,亦成为当前实现中国教育现代化发展的根基与保障。为理清政策视域下中国教育信息化发展之路,基于政策工具、教育领域和培养目标的三维分析框架,对1978—2021年期间38项国家层面的教育信息化政策进行分析。结果显示,改革开放至今的中国教育信息化政策以环境型政策工具使用最为频繁;校内教育一直是主流使用领域,家庭教育政策工具使用较少;领域素养的培养目标被较多提及。据此建议,相关部门需结合教育信息化发展需求,加强需求型政策工具和供给型政策工具的使用;平衡校内外领域的政策工具使用,特别是对家庭教育和校外教育给予一定的政策支持,调动多方力量协同参与;有效调控各教育环境中信息化政策工具的使用,培养目标综合关切学生高阶素养和通用素养。

Fermented soy whey induced changes on intestinal microbiota and metabolic influence in mice

Soy whey(SW)is generated as process waste while preparing soy protein isolates(SPI),and causing severe environmental pollution.Therefore,its value-added utilization is of prime importance for transforming and upgrading traditional industry.This study aims to utilize SW as a substrate for the growth of probiotics and produce a SW based synbiotics.By a series of trials,the effect of the dietary supplementation with this fermented SW(FSW)was analyzed on ICR mice's body weight,metabolites,and intestinal microbiota in 4 weeks.The results showed that,when SW was concentrated 15 times,the count of viable Lactobacillus casei reached 3.4×10^(9) CFU/mL by liquid fermentation method,which was the highest viable cell count among all test strains.In this FSW,the protein,amino acid,total dietary fibre,soluble dietary fibre,and oligosaccharide were 2.10%,1.63%,0.52%,0.51% and 0.79%,respectively.Compared to two control group,the total yields of the short chain fatty acids(SCFAs)were significantly improved(75%-125% at average),while the SCFAs structure was also significantly changed(especially acetic acid and butyrate)in the faeces of mice fed FSW.Meanwhile,FSW dietary addition was associated with the diversity and richness of the intestinal microbiota.Obviously,with mice's body weight loss,Firmicutes/Bacteroides ratio reduced accordingly(<1.21),and the abundance of Akkermansia muciniphila was significantly increased(the maximum amount was about 0.013%).In summary,our results indicated that the dietary supplementation of FSW affected mice's intestinal microbiota and metabolism and improved their health profile.

Supply Chain Commitment Contract Model Based on Uncertainty Theory under Uncertain Market Information

Based on the uncertainty theory, market demand information updating as the background, we study the coordination and optimization problem of three-stage supply chain in this paper. In half a asymmetric market information, participants are risk neutral;under the situation of the manufacturers and wholesalers having twice pre-season decision-making opportunity, wholesalers can be replenished in the season;manufacturers join the lowest supply contract of commitment: manufacturers for exchanging the information that they cannot get directly from the market will promise wholesalers to have a season lowest supply in pre-season. According to this contract, we establish optimization models of manufacturers and wholesalers respectively, and get the optimal strategy of supply chain members by analyzing the supply chain system. Finally, by giving a numerical example and comparing the results with that under random circumstances, the result is reasonable.

Carnosine concentration and expression profiles of carnosine related genes in Mytilus after beta-alanine injection

Carnosine and its analogues are histidine-containing dipeptides(HCDs)playing diverse functions in vertebrates.However,the distribution and the metabolism of carnosine in invertebrates are still unknown.In this study,Mytilus coruscus,a shellfish with important economic value in China,was selected for the investigation of HCD content and the expression profiling of carnosine-related genes in various mussel tissues.Quantification of HCD by amino acids analyzer revealed a low concentration of anserine in muscular tissues in Mytilus,indicating the presence of HCD even in an invertebrate.mRNA expression of five carnosine metabolic-related genes was profiled in various tissues,and the results highlighted the relative higher expression level of these genes in muscular tissues.Considering the fact that beta-alanine supplementation can increase the HCD content in vertebrates,a beta-alanine injection was performed and the changes of HCD concentration and the mRNA expression of carnosine related genes were investigated in five mussel tissues.The results revealed the increase of HCD concentration,as well as the up-regulated expression level of related genes,in tested tissues of beta-alanine injected mussels.Transcriptomic analysis for the whole soft tissue of mussel before and after beta-alanine injection were performed,and 3569 differential expression genes(DEGs)were identified in the beta-alanine injected group when compared to their expression levels in the control.These data indicated the complex eff ects of betaalanine on M.coruscus metabolism,and those DEGs enriched in pathways of cancers,muscle contraction,and tyrosine metabolism highlighted the possible functions of beta-alanine in cell proliferation,sports,and melanogenesis,respectively.

Effect of Laser Cladding Al Ni TiC Powder on Microstructure and Properties of Aluminum Alloy

In this paper, Al/Ni/TiC powders were mixed on the surface of A380 aluminum alloy, by selecting appropriate laser parameters;the cladding layer with good adhesion to the substrate was obtained. The microstructure and properties of the cladding layer under different laser parameters were analyzed. The results show that: the phase composition of the cladding layer is mainly composed of TiC, Al, Ni, C and Ti phases. The hardness of the cladding region is up to 173.3 HV, which is about 2.9 times the matrix (–59.1 HV). The corrosion voltage (–1.8 V) of the cladding layer shifted significantly from the corrosion potential (–1.18 V), the corrosion current density increased, the resistance value decreased and the diameter of the capacitor arc decreased;all these phenomena indicate that the corrosion resistance of the cladding layer is decreased.

Reflections on Tools and Methods for Differentiated Assessments of Individual Scientists, Groups of Scientists and Scientific Journals

Requirements for research assessments There are huge differences in mission, emphasis, inherent capability, and targeted utilization of research among scientific institutions. Hence, when it comes to assessments, a one-size-fits-all approach cannot meet the goal(s) of these assessments. Probably even larger differences exist between individuals, research teams and departments.

Discussion on Operation Risk and Management of Food Inspection Organizations

The paper introduced the significance of risk control in food inspection organizations,expounded the risk points of food inspection organizations from the aspects of human,machine,material,law,environment and testing of laboratory operation and gave corresponding risk management measures.This will help food inspection organizations' risk prevention and control to achieve effective management of inspection organizations.

Uncertainty Analysis of Residues of Nitrofuran Metabolites in Chicken Bone

[Objectives] Uncertainty in liquid chromatography-mass spectrometry detection of nitrofuran metabolite residues in chicken bone was analyzed to find out the influencing factors. [Methods] According to relevant theories such as Evaluation and expression of uncertainty in measurement,the uncertainty in the results of nitrofuran metabolites in chicken bone was analyzed and calculated combining with mathematical models. [Results] Under the addition amount of 1. 0 μg/kg,the uncertainty of the four nitrofuran metabolites was as follows: nitrofurazone metabolites C(SEM)= 0. 981 μg/kg,U = 0. 070 μg/kg,k = 2;furazolidone metabolites C(AOZ)= 1. 032 μg/kg,U = 0. 061 μg/kg,k = 2;furaltadone metabolites C(AMOZ)= 1. 068 μg/kg,U = 0. 076 μg/kg,k = 2;furadantin metabolites C(AHD)=1. 007 μg/kg,U = 0. 046 μg/kg,k = 2. [Conclusions]The uncertainty in the measurement process mainly comes from the purity of the standards,the preparation process,the sample weight,the number of repeated measurement and the recovery of spiked sample. The research results are of great significance for reducing uncertainty and improving data accuracy and reliability during actual operation.

The brackish-water bivalve Waagenoperna from the Lower Jurassic Badaowan Formation of the Junggar Basin and its palaeoenvironmental and palaeogeographic significance

The brackish-water bivalve Waagenoperna Tokuyama, 1959 is reported from the Lower Jurassic Badaowan Formation at four localities, along the southern margin and western margin of the Junggar Basin. Taphonomic features recorded in the field indicate that it occurs in autochthonous or parautochthonous assemblages. The autecology of Waagenoperna therefore yields information on the palaeoenvironment of the area. The restriction of Waagenoperna to marine and brackish-water settings suggests that the sea water once reached these areas during the Sinemurian. This paper discusses the palaeogeographic implications and suggests an ingression of the sea water from the west to the western and southern part of the Junggar Basin. Additionally, the two Waagenoperna species collected from the Haojiagou section in the Junggar Basin are taxonomically documented.