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A mutation in TBXT causes congenital vertebral malformations in humans and mice

Journal of Genetics and Genomics 2024年第4期51卷 433-442页

作者： Shuxia Chen Yunping lei Yajun Yang Chennan Liu lele Kuang Li Jin Richard HFinnell Xueyan Yang Hongyan Wang Obstetrics and Gynecology Hospital State Key Laboratory of Genetic Engineering at School of Life SciencesKey Laboratory of Reproduction Regulation of NPFPCInstitute of Reproduction and DevelopmentFudan UniversityShanghai 200438China Shanghai Key Laboratory of Metabolic Remodeling and Health Institute of Metabolism and Integrative BiologyFudan UniversityShanghai 200438China Center for Precision Environmental Health Department of Molecular and Cellular BiologyBaylor College of MedicineHoustonTX 77030USA MOE Key Laboratory of Contemporary Anthropology School of Life SciencesFudan UniversityShanghai 200438China Department of Assisted Reproduction Xinhua HospitalSchool of MedicineShanghai Jiao Tong UniversityShanghai 200092China Children’s Hospital Fudan University399 Wanyuan RoadShanghai 201102China

T-box transcription factor T(TBXT;T)is required for mesodermal formation and axial skeletal development.Although it has been extensively studied in various model organisms,human congenital vertebral malformations(CVMs)involving T are not well established.Here,we report a family with 15 CVM patients distributed across 4 generations.All affected individuals carry a heterozygous mutation,T c.596A>G(p.Q199R),which is not found in unaffected family members,indicating co-segregation of the genotype and phenotype.In vitro assays show that T p.Q199R increases the nucleocytoplasmic ratio and enhances its DNA-binding affinity,but reduces its transcriptional activity compared to the wild-type.To determine the pathogenicity of this mutation in vivo,we generated a Q199R knock-in mouse model that recapitulates the human CVM phenotype.Most heterozygous Q199R mice show subtle kinked or shortened tails,while homozygous mice exhibit tail filaments and severe vertebral deformities.Overall,we show that the Q199R mutation in T causes CVM in humans and mice,providing previously unreported evidence supporting the function of T in the genetic etiology of human CVM.

关键词： Congenital vertebral malformation TBXT T gene Loss-of-function mutation

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Tetracycline removal via adsorption and metal-free catalysis with 3D macroscopic N-doped porous carbon nanosheets:Non-radical mechanism and degradation pathway

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Journal of Environmental Sciences 2022年第1期34卷 351-366页

作者： Yaqian Shen Ke Zhu Dongdong He Jin Huang Hongmei He lele lei Wenjin Chen School of Materials and Energy University of Electronic Science and Technology of ChinaChengdu 611731China

Recently,metal-based carbon materials have been verified to be an effective persulfate activator,but secondary pollution caused by metal leaching is inevitable.Hence,a green metalfree 3D macroscopic N-doped porous carbon nanosheets(NPCN)was synthesized successfully.The obtained NPCN showed high adsorption capacity of tetracycline(TC)and excellent persulfate(PS)activation ability,especially when calcined at 700℃(NPCN-700).The maximum adsorption capacity of NPCN-700 was 121.51 mg/g by H-bonds interactions.Moreover,the adsorption process followed pseudo-second-order kinetics model and Langmuir adsorption isotherm.The large specific surface area(365.27 mg/g)and hierarchical porous structure of NPCN-700 reduced the mass transfer resistance and increased the adsorption capacity.About 96.39%of TC was removed after adding PS.The effective adsorption of the catalyst greatly shortened the time for the target organic molecules to migrate to the catalyst.Moreover,the NPCN-700 demonstrated high reusability with the TC removal rate of 80.23%after 4 cycles.Quenching experiment and electron paramagnetic resonance(EPR)test confirmed the non-radical mechanism dominated by ^(1)O_(2).More importantly,the C=O groups,defects and Graphitic N acted as active sites to generate ^(1)O_(2).Correspondingly,electrochemical measurement revealed the direct electron transfer pathway of TC degradation.Finally,multiple degradation intermediates were recognized by the LC-MS measurement and three possible degradation pathways were proposed.Overall,the prepared NPCN had excellent application prospects for removal of antibiotics due to its remarkable adsorption and catalytic degradation capabilities.

关键词： 3D macroscopic N-doped porous carbon nanosheets Tetracycline Adsorption and metal-free catalysis Singlet oxygen

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Fe-N co-doped coral-like hollow carbon shell toward boosting peroxymonosulfate activation for efficient degradation of tetracycline: Singlet oxygen-dominated non-radical pathway

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Journal of Environmental Sciences 2023年第4期126卷 470-482页

作者： Wenjin Chen Jin Huang Yaqian Shen Ke Zhu lele lei Hongmei He Yushi Ai School of Materials and Energy University of Electronic Science and Technology of ChinaChengdu 611731China

Fe-N co-doped coral-like hollow carbon shell (Fe-N-CS) was synthesized via a simply impregnation-pyrolysis method.The Fe-N-CS showed an excellent ability for activating peroxymonosulfate (PMS),which could degrade about 93.74%tetracycline (20 mg/L) in 12 min.The Fe-N-CS/PMS system exhibited a good anti-interference capacity of various pH,inorganic anions,HA and different water qualities.More importantly,the Fe nanoparticles were anchored uniformly in the carbon layer,effectively limiting the metal leaching.The quenching tests and electron spin resonance (ESR) manifested that non-radical singlet oxygen (1O_(2))was the main reactive oxygen species (ROS) for TC degradation.The mechanism study showed that Fe nanoparticles,defect and graphite N played a key role in activating PMS to produce ROS.Moreover,three probable degradation pathways were proposed by using LC-MS measurements.Generally,this work had a new insight for the synthesis of heterogeneous Fe-N-C catalysts in the advanced oxidation process based on PMS.

关键词： Fe-N co-doped Carbon shells Peroxymonosulfate Tetracycline Singlet oxygen

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Dopamine-triggered one-step functionalization of hollow silica nanospheres for simultaneous lubrication and drug release

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Friction 2023年第3期11卷 410-424页

作者： Qiangbing WEI Tian FU lele lei Huan LIU Yixin ZHANG Shuanhong MA Feng ZHOU Key Laboratory of Eco-functional Polymer Materials of the Ministry of Education Key Laboratory of Polymer Materials of Gansu ProvinceCollege of Chemistry and Chemical EngineeringNorthwest Normal UniversityLanzhou 730070China State Key Laboratory of Solid Lubrication Lanzhou Institute of Chemical PhysicsChinese Academy of SciencesLanzhou 730000China Shandong Laboratory of Yantai Advanced Materials and Green Manufacture Yantai 264006China

Osteoarthritis(OA)has been regarded as a lubrication deficiency related joint disease.Combination of both joint lubrication and drug intervention may provide a promising nonsurgical strategy for treatment of OA.Developing novel and simple approaches to fabricate superlubricating nanoparticles with drug release property is highly required.Herein,dopamine triggered one-step polymerization method was employed to fabricate polydopamine/poly(3-sulfopropyl methacrylate potassium salt)(PDA-PSPMA)conjugate coating on hollow silica(h-SiO_(2))nanosphere surfaces to engineer functional nanoparticles(h-SiO_(2)/PDA-PSPMA).The as-prepared h-SiO_(2)/PDA-PSPMA exhibits excellent aqueous lubrication performance on biomaterial substrates as well as natural bovine articular cartilage based on hydration effect of negatively charged PDA-PSPMA coating and"rolling"effect of h-SiO_(2)nanospheres.In vitro drug loading-release experiments demonstrate that PDA-PSPMA coating functionalized h-SiO_(2)nanospheres show high drug-loading and sustained-release capability of an anti-inflammatory drug,diclofenac sodium(DS).Such h-SiO_(2)/PDA-PSPMA nanospheres can be potentially used as a synergistic therapy agent for OA treatment combining by simultaneous joint lubrication anddrugrelease.

关键词： osteoarthritis treatment functionalized nanoparticles injectable biolubricant friction reduction drug release

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Peroxymonosulfate activation by Fe-N-S co-doped tremella-like carbocatalyst for degradation of bisphenol A: Synergistic effect of pyridine N, Fe-Nx, thiophene S

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Journal of Environmental Sciences 2023年第7期129卷 213-228页

作者： Wenjin Chen lele lei Ke Zhu Dongdong He Hongmei He Xiulan Li Yumeng Wang Jin Huang Yushi Ai School of Materials and Energy University of Electronic Science and Technology of ChinaChengdu 611731China Sichuan Province Engineering Technology Research Center of Novel CN Polymeric Materials Chengdu 611731China School of Medicine University of Electronic Science and Technology of ChinaChengdu 611731China

Bisphenol A(BPA)has received increasing attention due to its long-term industrial application and persistence in environmental pollution.Iron-based carbon catalyst activation of peroxymonosulfate(PMS)shows a good prospect for effective elimination of recalcitrant contaminants in water.Herein,considering the problem about the leaching of iron ions and the optimization of heteroatoms doping,the iron,nitrogen and sulfur co-doped tremellalike carbon catalyst(Fe-NS@C)was rationally designed using very little iron,S-C_(3)N_(4) and low-cost chitosan(CS)via the impregnation-calcination method.The as-prepared Fe-NS@C exhibited excellent performance for complete removal of BPA(20 mg/L)by activating PMS with the high kinetic constant(1.492 min^(−1))in 15 min.Besides,the Fe-NS@C/PMS system not only possessed wide pH adaptation and high resistance to environmental interference,but also maintained an excellent degradation efficiency on different pollutants.Impressively,increased S-C_(3)N_(4) doping amount modulated the contents of different N species in Fe-NS@C,and the catalytic activity of Fe-NS@C-1-x was visibly enhanced with increasing SC_(3)N_(4) contents,verifying pyridine N and Fe-Nx as main active sites in the system.Meanwhile,thiophene sulfur(C-S-C)as active sites played an auxiliary role.Furthermore,quenching experiment,EPR analysis and electrochemical test proved that surface-bound radicals(·OH and SO_(4)^(·−))and non-radical pathways worked in the BPA degradation(the former played a dominant role).Finally,possible BPA degradation route were proposed.This work provided a promising way to synthesize the novel Fe,N and S co-doping carbon catalyst for degrading organic pollutants with low metal leaching and high catalytic ability.

关键词： Iron,Nitrogen and sulfur co-doped Peroxymonosulfate Bisphenol A Pyridine N Fe-N_(x)sites Thiophene S

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基于最大重叠离散小波变换和深度学习的光伏功率预测

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太阳能学报 2024年第5期45卷 576-583页

作者：马乐乐孔小兵郭磊刘源延刘向杰华北电力大学控制与计算机工程学院北京102206

针对光伏功率时间序列的非平稳特性,提出一种基于最大重叠离散小波变换(MODWT)和长短期记忆网络(LSTM)的光伏功率组合预测模型。利用皮尔逊相关系数确定影响光伏功率的重要气象因素,基于MODWT算法对历史光伏功率序列进行分解,将选取的... 详细信息

针对光伏功率时间序列的非平稳特性,提出一种基于最大重叠离散小波变换(MODWT)和长短期记忆网络(LSTM)的光伏功率组合预测模型。利用皮尔逊相关系数确定影响光伏功率的重要气象因素,基于MODWT算法对历史光伏功率序列进行分解,将选取的气象因素与分解得到的平稳子序列共同构成各个LSTM网络输入,通过汇总重构每个LSTM网络的子序列预测结果得到最终的光伏功率预测结果。从理论层面分析所建立的MODWT算法的完全重构性,并基于李雅普诺夫稳定性定理推导保证预测网络收敛的学习率范围。仿真对比结果显示,所提出的光伏功率预测模型在预测精度和鲁棒性方面具有明显优势。

关键词：光伏功率预测长短期记忆网络非平稳时间序列分解预测网络收敛性

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Study on the freezing–thawing deformation of consolidated soils under high pressure

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Research in Cold and Arid Regions 2017年第1期9卷 29-37页

作者： DaYan Wang Wei Ma lele lei lele leiState Key Laboratory of Frozen Soil Engineering Northwest Institute of Eco-Environment and ResourcesChinese Academy of SciencesLanzhouGansu 730000China

The freezing-thawing deformation behaviors of consolidated soils under high pressure have been investigated in a high-pressure-low-temperature （HPLT） Kq consolidation apparatus with a small strain sensor. The tests cover a variety of frozen soil temperatures ranging from -2℃ to -10 ℃, and a series of applied pressures ranging from 1 MPa to 5 MPa. The test results show that, for the consolidated soils under high pressure, their freezing-thawing deformation was caused by the realignment and the deformation of soil particles, the phase change of water, and the water redistribution in the soil. As for the deformation produced by thermal expansion and contraction,it is about 0.04-0.05 mm, accounting for only about 7%~9% of the total deformation. Taking the freezing-thawing deformation produced by temperature disturbance as a creep deformation, the creep models of the developing soil deformation will be determined by the soil＇s final temperature, i.e., the desired temperature. For the soils under a desired temperature between -2℃ and -5℃, the freezing-thawing de-formation develops according to a non-attenuation creep model; but for the soils with a desired temperature lower than -5℃, a full attenuation creep model is followed. The applied pressure and soil type also have a significant influence on the maximum freezing deformation. Generally, the greater the desired pressure applied, the less the maximum deformation is; and the loess freezing deformation is larger than that of sand.

关键词： freezing-thawing deformation artificial ground freezing K0 consolidation high pressure

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Hierarchical Self-Assembly of Organic-Inorganic Hybrid Nanosheets to Construct Tubular Superstructures for Photocatalytic Degradation

Hierarchical Self-Assembly of Organic-Inorganic Hybrid Nanos...

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第十届新型太阳能材料科学与技术学术研讨会

作者： lele lei Zhenhuan Lu College of Chemistry and Bioengineering Guilin University of Technology

The fabrication of hybrid assemblies into highly ordered functional materials remains a major challenge.Here,two carbazole derivatives equipped with an alkyl thiol,and Brsubstituted(CZBr) or unsubstituted(CZH),were designed.These molecules were hybridized with an SnS nanosheet,and an organic-induced multi-step self-assembly approach was successfully applied in the CZBr and SnS systems.First,the CZBr was anchored on SnS nanosheets via the alkyl thiols’ chemical bonding.Then,the strong π-π interaction of CZBr drove the hybrid nanosheets to stack as superstructures.The nanoflower morphology of SnS could thus be converted to a nanotube of SnS-CZBr hybrid material.Due to this unique structure,the as-prepared organic–inorganic hybrid materials exhibit excellent efficiency for the photocatalytic degradation of methyl orange(MO).The best degradation effect of SnS-CZBr after one hour of illumination was 93.48%;the value was 53.78% for SnS.The photocatalysts described here are a class of organic-driven hierarchical self-assembly organic–inorganic hybrid semiconductor materials.

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胸腰椎骨折伤椎承载能力评分系统的建立及临床应用

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中华骨与关节外科杂志 2024年第1期17卷 44-49页

作者：孙乐乐石磊曹杰王康康梁成民蚌埠医学院附属阜阳医院(阜阳市人民医院)骨科安徽阜阳236000

目的:针对胸腰椎损伤严重程度评分系统(TLICS)评分<4分的胸腰椎骨折提出一种伤椎承载能力评分系统(TFBCSS),并评估其信度及临床疗效。方法:回顾性分析2018年12月至2022年12月收治的TLICS评分<4分的胸腰椎骨折患者,结合患者性别、年龄、... 详细信息

目的:针对胸腰椎损伤严重程度评分系统(TLICS)评分<4分的胸腰椎骨折提出一种伤椎承载能力评分系统(TFBCSS),并评估其信度及临床疗效。方法:回顾性分析2018年12月至2022年12月收治的TLICS评分<4分的胸腰椎骨折患者,结合患者性别、年龄、体重指数(BMI)、伤椎形态学改变建立TFBCSS,选取5名脊柱外科医师(2名主任医师,3名住院医师)根据影像学特征及患者性别、年龄、BMI对骨折赋分评估,对评分系统进行信度检验,以组内相关系数(ICC)评估该评分系统的可重复性和可靠性。根据TFBCSS总分值(T)不同分为T<4分的保守治疗组和T≥4分的手术治疗组,依据局部后凸角、伤椎前缘椎体高度、疼痛视觉模拟评分(VAS)、Oswestry功能障碍指数(ODI)随访观察治疗效果。结果:回顾性纳入120例,其中保守治疗组45例,手术治疗组75例,随访时间为12~30个月,平均(18.6±4.6)个月,5名医师对TFBCSS的可重复性ICC分别为保守治疗组平均0.892,手术治疗组平均0.883,可信度ICC分别为保守治疗组平均0.891,手术治疗组平均0.885。两组患者术后的局部后凸角、伤椎前缘椎体高度、VAS评分、ODI末次随访时均较术前显著改善(P均<0.001)。结论:TFBCSS可以用于指导TLICS评分<4分的胸腰椎骨折患者的临床治疗,且具有较强的可重复性和一致性。

关键词：胸腰椎骨折胸腰椎损伤严重程度评分系统

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^(125)I粒子植入联合其他方案治疗不可切除胰腺癌的研究进展

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中国医师杂志 2024年第2期26卷 301-305页

作者：黄文鹏武思彤宋乐乐杨琦康磊北京大学第一医院核医学科北京100034 北京大学第一医院介入血管外科北京100034

胰腺癌是常见的消化系统恶性肿瘤,预后较差,约80%的患者诊断时已丧失手术切除机会。在不同的治疗方案中,放射性^(125)I粒子植入可以改善不可切除胰腺癌患者的生活质量,并有望提高其生存率。本文综述了^(125)I粒子植入治疗联合化疗、冷... 详细信息

胰腺癌是常见的消化系统恶性肿瘤,预后较差,约80%的患者诊断时已丧失手术切除机会。在不同的治疗方案中,放射性^(125)I粒子植入可以改善不可切除胰腺癌患者的生活质量,并有望提高其生存率。本文综述了^(125)I粒子植入治疗联合化疗、冷冻疗法、腔内照射、支架置入、射频消融、纳米刀、旁路手术在不可切除胰腺癌患者中的临床应用,使其更好地在临床上推广。同时有必要制定统一的剂量标准和规范指南,使其更安全、更广泛地服务于临床实践。

关键词：胰腺肿瘤碘放射性同位素近距离放射疗法

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