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Novel mutation in the ASXL3 gene in a Chinese boy with microcephaly and speech impairment:A case report

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World Journal of Clinical Cases 2020年第24期8卷 6465-6472页

作者： Jin-Rong Li zhuo Huang You lu Qiao-Yun Ji Ming-yan Jiang Fan yang Department of Pediatrics West China Second University HospitalSichuan UniversityChengdu 610041Sichuan ProvinceChina Department of Ministry of Education Key Laboratory of Birth Defects and Related Diseases of Women and Children(Sichuan University)Chengdu 610041Sichuan ProvinceChina

BACKGROUND Bainbridge-Ropers syndrome (BRPS) is a severe disorder characterized by failureto thrive, facial dysmorphism, and severe developmental delay. BRPS is caused bya heterozygous loss-of-function mutation in the ASXL3 gene. Due to limitedknowledge of the disease and lack of specific features, clinical diagnosis of thissyndrome is challenging. With the use of trio-based whole exome sequencing, weidentified a novel ASXL3 mutation in a Chinese boy with BRPS and performed aliterature *** SUMMARY A 3-year-old Chinese boy was referred to our hospital due to progressivepostnatal microcephaly and intellectual disability with severe speech impairmentfor 2 years. His other remarkable clinical features were shown as follows: Facialdysmorphism, feeding difficulties, poor growth, motor delay, and abnormalbehavior. For the proband, regular laboratory tests, blood tandem massspectrometry, urine gas chromatographic mass spectrometry, karyotype, hearingscreening, and brain magnetic resonance imaging were performed, with negativeresults. Therefore, for the proband and his unaffected parents, trio-based wholeexome sequencing and subsequent validation by Sanger sequencing wereperformed. A novel nonsense variant in exon 11 of the ASXL3 gene (c.1795G>T;p.E599*) was detected, present in the patient but absent from his parents. Takinginto account the concordant phenotypic features of our patient with reportedBRPS patients and the detected truncated variant located in the known mutationalcluster region, we confirmed a diagnosis of BRPS for this proband. Therehabilitation treatment seemed to have a mild *** In this case, a novel nonsense mutation (c.1795G>T, p.E599*) in ASXL3 gene wasidentified in a Chinese boy with BRPS. This finding not only contributed to bettergenetic counseling and prenatal diagnosis for this family but also expanded thepathogenic mutation spectrum of ASXL3 gene and provided key information forclinical diagnosis of BRPS.

关键词： Bainbridge-Ropers syndrome ASXL3 mutation Whole-exome sequencing Case report

A novel pathway for the preparation of Mg metal from magnesia

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Journal of Magnesium and Alloys 2022年第10期10卷 2847-2856页

作者： Zhimin Zhang Xuchen lu yan yan State Key Laboratory of Multi-phase Complex systems Institute of Process EngineeringChinese Academy of ScienceHaidian DistrictBeijing 100190PR

High-purity anhydrous magnesium chloride was prepared from magnesia and ammonium *** chlorination process was analyzed and then the critical stages affecting the purity of anhydrous magnesium chloride were *** effect of sample dimension on the above critical stages was investigated *** purity guarantee mechanism of anhydrous magnesium chloride was *** that,magnesium metal was obtained via electrolyzing the anhydrous magnesium chloride-containing molten *** new process for the continuous production of magnesium metal from magnesia was proposed and *** incomplete chlorination reaction and the hydrolysis of anhydrous magnesium chloride are the two critical stages affecting the purity of the anhydrous magnesium *** dimension of the sample can influence reaction process and reaction mechanism,and thus the problems of incomplete chlorination reaction and hydrolysis can be solved *** magnesia content in anhydrous magnesium chloride was below 0.1 wt.%when the ratio of height to diameter of the sample was over *** content of impurities in the magnesium metal obtained met the specifications of the product *** current efficiency was(94.7±1.8)%and the electricity consumption was(9107±97)kW h/t.

关键词： Magnesium Electrolysis Anhydrous magnesium chloride Hydrolysis

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双壁波纹钢管混凝土构件短柱轴压力学性能

哈尔滨工业大学学报 2025年第1期57卷 56-64页

作者：路博崔燕方勇王玉银李豪哈尔滨工业大学土木工程学院哈尔滨150090 结构工程灾变与控制教育部重点实验室(哈尔滨工业大学) 哈尔滨150090 深圳市市政设计研究院有限公司广东深圳518029

为改善空心钢筋混凝土柱(HRC)的使用与受力性能,提出一种双壁波纹钢管混凝土(CFDCST)构件。本文共进行了4个大尺寸双壁波纹钢管混凝土短柱与2个空心钢筋混凝土短柱的轴压试验,关键试验参数为试件类型与波纹钢管类型。分析构件的破坏模式... 详细信息

为改善空心钢筋混凝土柱(HRC)的使用与受力性能,提出一种双壁波纹钢管混凝土(CFDCST)构件。本文共进行了4个大尺寸双壁波纹钢管混凝土短柱与2个空心钢筋混凝土短柱的轴压试验,关键试验参数为试件类型与波纹钢管类型。分析构件的破坏模式,对比不同参数下构件的承载力、峰值应变、延性系数等关键力学指标,获得荷载-波纹钢管应变关系曲线以揭示试件的约束机理并验证外波纹钢管类型的影响。试验结果表明:外波纹钢管可为夹层混凝土提供约束作用,且螺旋角越小,外波纹钢管的约束作用越强;内波纹钢管则主要为夹层混凝土内壁提供有效支撑,以保持截面的完整性。名义约束效应系数与空心率相近时,由于咬口滑移影响,大螺旋角双壁波纹钢管混凝土比小螺旋角双壁波纹钢管混凝土的峰值应力、峰值应变与延性系数分别降低15.5%、21.8%与16.7%。在总用钢量相近的情况下,小螺旋角双壁波纹钢管混凝土柱的承载力、峰值应变与延性系数分别比空心钢筋混凝土柱提高10.6%、36.2%与50.0%。基于试验结果,检验了3种典型承载力公式的适用性,并提出了相应设计建议。

关键词：组合结构空心钢筋混凝土波纹钢管双壁构件约束机理

Molecular Cloning, Characterization and Sequence Analysis of KCNQ4 in Large Odorous Frog, Odorrana graminea

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Asian Herpetological Research 2019年第4期10卷 211-218页

作者： Ningning lu Ziwen GU zhuo CHEN Xiaohong CHEN College of Life Sciences Henan Normal University

Acoustic communication is essential for anuran survival and reproduction, and masking background noise can affect the effective acoustic communication. The larger odorous frog(Odorrana graminea) inhabits noise montane streams, and it has shown an ultrasound communication adaptation. However, the molecular mechanism underlying their ultrasonic hearing adaptation remains unknown. To characterize and investigate the molecular characteristics and evolution of the high-frequency hearing-sensitive gene(KCNQ4) in O. graminea, termed as OgKCNQ4, the rapid amplification of cDNA ends(RACE) was performed to amplify the cDNA of OgKCNQ4. Different bioinformatics analyses were used to investigate the molecular characteristics. Multiple nucleotide and amino acid sequence alignment were conducted, and phylogenies were reconstructed under the maximum likelihood and Bayesian approaches. The full-length cDNA of OgKCNQ4 was 2065 bp, and the open reading frame(ORF) was 2046 bp encoding for a putative protein with 681 amino acids. The relative molecular weight of OgKCNQ4 was 76.453 kD and the putative PI was 9.69. Secondary structure prediction analyses suggested 42.29% alpha helixes and 43.76% random coils in OgKCNQ4. Gene homology and Phylogenetic analyses revealed the closest relationship between OgKCNQ4 and KCNQ4 of Nanorana parkeri with 96.9% similarity and 95.0% identity. We first determined the full-length cDNA of OgKCNQ4 and the results here could provide foundations for further study on the evolution of KCNQ4 and its relationship to ultrasonic communication in amphibians.

关键词： Odorrana graminea KCNQ4 cDNA bioinformatics analyses

Flow Injection Chemiluminescence Determination of Puerarin in Pharmaceutical Preparations Using Eosin Y-Fenton System

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Chinese Journal of Chemistry 2011年第6期29卷 1261-1267页

作者： Cai, zhuo Zhang, Xian lu, Dengfeng Gan, Jingni College of Chemistry and Chemical Engineering Guangxi University Nanning Guangxi 530004 China

A novel chemiluminescence （CL） system was established for the determination of puerarin in pharmaceutical preparations. It was shown that a strong CL signal was observed when Eosin Y reacted with the hydroxyl radicals which were generated from Fenton reagent in acidic medium. The CL intensity was decreased significantly when puerarin was added to the reaction system and partially scavenged the hydroxyl radicals in the solution. The extent of decrease in the CL intensity had a good stoichiometrical relationship with puerarin concentration. Based on this, a new method for the determination of puerarin using a flow injection chemiluminescence technique was developed. The experimental parameters that affected the CL intensity were optimized. Under the optimal conditions, the linear range for puerarin concentration was 8.0 × 10^-8--2.0 × 10^-6 mol/L （R = 0.9982） with a detection limit of 7.5 × 10^-9 mol/L （S/N= 3） and the relative standard deviation was method was applied to the determination of puerarin in a 1.7% for 4.0× 10^-7 mol/L puerarin （n= 11）. The proposed puerarin injection with satisfactory results.

关键词： flow injection chemiluminescence Eosin Y puerarin hydroxyl radical

Numerical Forecasting of Icing on Structural Components of Offshore Platforms in Polar Regions

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China Ocean Engineering 2021年第4期35卷 588-597页

作者： BAI Xu SHEN Jie XUE yan-zhuo SHU Yuan-chao School of Naval Architecture&Ocean Engineering Jiangsu University of Science and TechnologyZhenjiang 212003China College of Shipbuilding Engineering Harbin Engineering UniversityHarbin 150001China

The Polar Regions are rich in natural resources but experience an extremely cold *** surfaces of offshore platforms operating in the Polar Regions are prone to *** develop solutions to this problem of surface icing,the influence of both the liquid water concentration of the surrounding atmosphere and the average water droplet diameter on the formation of ice on two major structural components of offshore platforms was analyzed using a combination of Fluent and *** showed that at a wind speed of 7 m/s,as the concentration of liquid water in the air increases from 0.05 to 0.25 g/m3,the amount and thickness of the icing on the surfaces of the two structural components increase *** a wind speed of 7 m/s and when the size of the average water droplet diameter is 20–30(30–35)μm,as the average water droplet diameter increases,the amount and thickness of the icing on the surfaces of the two structural components increase(decrease)gradually.

关键词： offshore platform in cold regions icing numerical analysis icing thermodynamic model icing calculation process

The study on the bottom friction and the breaking coefficient for typhoon waves in radial sand ridges—the Lanshayang Channel as an example

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Acta Oceanologica Sinica 2015年第3期34卷 99-107页

作者： XU zhuo ZHANG Wei lu Peidong CHEN Kefeng College of Harbor Coastal and Offshore Engineering Hohai University The Development Office of yangtze River in Tongzhou District River and Harbor Department Nanjing Hydraulic Research Institute

Owing to the interactions among the complex terrain, bottom materials, and the complicate hydrodynam-ics, typhoon waves show special characteristics as big waves appeared at the high water level （HWL） and small waves emerged at low and middle water levels （LWL and MWL） in radial sand ridges （RSR）. It is as-sumed that the mud damping, sandy bed friction and wave breaking effects have a great influence on the typhoon wave propagation in this area. Under the low wave energy, a mud layer will form and transport into the shallow area, thus the mud damping effects dominate at the LWL and the MWL. And high Collins coef-ficient （c around 1） can be applied to computing the damping effects at the LWL and the MWL. But under the high wave energy, the bottom sediment will be stirred and suspended, and then the damping effects disappear at the HWL. Thus the varying Collins coefficient with the water level method （VCWL） is imple-mented into the SWAN to model the typhoon wave process in the Lanshayang Channel （LSYC） of the RSR, the observed wave data under “Winnie” （“9711”） typhoon was used as validation. The results show that the typhoon wave in the RSR area is able to be simulated by the VCWL method concisely, and a constant wave breaking coefficient （γ） equaling 0.78 is better for the RSR where wide tidal flats and gentle bed slopes exist.

关键词： typhoon wave radial sand ridges RSR mud damping effects varying Collins coefficient with the water level method wave breaking coefficient

Upper crustal P-wave velocity structure beneath two volcanic areas in northern Iran

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Science China Earth Sciences 2017年第4期60卷 786-795页

作者： lu yan CHEN Ling Key Laboratory of Earth and Planetary Physics Institute of Geology and Geophysics Chinese Academy of Sciences Beijing 100029 China State Key Laboratory of Lithospherie Evolution Institute of Geology and Geophysics Chinese Academy of Sciences Beijing 100029 China Chinese Academy of Sciences Center for Excellence in Tibetan Plateau Earth Sciences Beijing 100101 China

Detailed information about the crustal structure is essential for better understanding the occurrence and mechanisms of earthquakes and *** we present a study of the upper crustal P-wave velocity structure of two seismically and volcanically active areas in northern Iran using the two-dimensional Pg travel time tomography *** imaging results suggest low velocities in the upper crust beneath the Damavand and Sahand-Sabalan volcanic areas in the central and western parts of northern Iran,*** upper crustal low velocities in these two areas roughly coincide with previously imaged low Pn velocity anomalies,suggesting that the Late Cenozoic volcanic activity was probably caused by the upwelling of hot materials from the *** image feature of the Pg velocity structure beneath the Sahand-Sabalan volcanic area further indicates that the hot materials stored in the upper crust beneath Sahand may be larger in size than those stored beneath *** of the Pg velocity images with the earthquake distribution in north Iran suggests that earthquakes mainly occur at moderately low velocity or low to high velocity boundary areas instead of significantly low or high velocity *** anisotropy results show that the Pg wave fast direction is consistent with the GPS direction at high Pg velocity areas and the fast direction is inconsistent with the GPS direction but consistent with the strike direction of faults at low velocity *** new upper crustal structural images provide the basic observation for better understanding of the regional seismicity and volcanism,and link the surface geological phenomena to deep crustal and mantle processes associated with the active tectonics in northern Iran.

关键词： Equatorial ionization anomaly Sudden stratospheric warming Ionosphere

Influence of environmental factors on arsenic accumulation and biotransformation using the aquatic plant species Hydrilla verticillata

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Journal of Environmental Sciences 2020年第4期32卷 244-252页

作者： Yuan Zhao zhuo Zhen Zhenhong Wang Liqing Zeng Changzhou yan Key Laboratory of Urban Environment and Health Fujian Key Laboratory of Watershed EcologyInstitute of Urban EnvironmentChinese Academy of SciencesXiamen 361021China University of Chinese Academy of Sciences Beijing 100049China School of Chemistry and Environment Fujian Province Key Laboratory of Modern Analytical Science and Separation TechnologyMinnan Normal UniversityZhangzhou 363000China

Hydrilla verticillata(waterthyme)has been successfully used for phytoremediation in arsenic(As)contaminated *** evaluate the effects of environmental factors on phytoremediation,this study conducted a series of orthogonal design experiments to determine optimal conditions,including phosphorus(P),nitrogen(N),and arsenate(As(Ⅴ))concentrations and initial pH levels,for As accumulation and biotransformation using this aquatic plant species,while also analyzing As species transformation in culture media after 96-hr *** of variance and the signal-to-noise ratio were used to identify both the effects of these environmental factors and their optimal conditions for this *** indicated that both N and P significantly impacted accumulation,and N was essential in As species *** N and intermediate P levels were critical to As accumulation and biotransformation by ***,while high N and low P levels were beneficial to As species transformation in culture *** highest total arsenic accumulation was(197.2±17.4)μg/g dry weight when As(V)was at level 3(375μg/L),N at level 2(4 mg/L),P at level 1(0.02 mg/L),and pH at level 2(7).Although *** is highly efficient in removing As(Ⅴ)from aquatic environments,its use could be potentially harmful to both humans and the natural environment due to its release of highly toxic *** cost-effective and ecofriendly phytoremediation of As-contaminated water,both N and P are helpful in regulating As accumulation and transformation in plants.

关键词： Phytoremediation Orthogonal design pH Phosphorus Nitrogen