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MED25基因变异所致Basel-Vanagaite-Smirin-Yosef综合征临床表型及基因变异分析

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中华神经科杂志 2024年第1期57卷 47-53页

作者：罗光金张璇陈潇王丽华赵静丁晓陈军王利江苑爱云侯梅青岛大学附属青岛妇女儿童医院神经康复科青岛266034 青岛大学附属青岛妇女儿童医院儿内科青岛266034 青岛大学附属青岛妇女儿童医院脑电图室青岛266034 青岛大学附属青岛妇女儿童医院影像科青岛266034

目的探讨Basel-Vanagaite-Smirin-Yosef综合征(BVSYS)的临床表型及基因变异情况,提高临床医生对该病的认识。方法收集青岛大学附属青岛妇女儿童医院神经康复科2023年2月收住院的1例BVSYS患儿的临床资料,应用全基因组测序分析患儿的致病... 详细信息

目的探讨Basel-Vanagaite-Smirin-Yosef综合征(BVSYS)的临床表型及基因变异情况,提高临床医生对该病的认识。方法收集青岛大学附属青岛妇女儿童医院神经康复科2023年2月收住院的1例BVSYS患儿的临床资料,应用全基因组测序分析患儿的致病基因,使用Sanger测序验证其家系成员的可疑变异位点,进行临床表型及基因变异分析,并结合相关文献总结BVSYS的临床特点。结果患儿女性,3岁1个月,主要表现为全面性发育迟缓、语言障碍、特殊面容、内斜视、癫痫、肌张力低下、房间隔缺损,头颅磁共振成像提示双侧脑室宽、双侧脑室体后旁异常信号、胼胝体细薄。全基因组测序发现患儿MED25基因存在纯合错义变异c.518(exon5)T>C(***173Thr),Sanger测序结果提示其父母、哥哥均携带上述杂合变异,根据美国医学遗传学与基因组学学会指南评级为可能致病性变异。检索到英文文献6篇共报道22例患者,尚无中国病例报道。结论BVSYS临床罕见。对于不明原因全面性发育迟缓/智力障碍合并颅面、神经、心脏和眼部异常的患者,进行针对性基因检测有助于明确诊断。

关键词：儿童发育障碍智力癫痫 MED25基因 Basel-Vanagaite-Smirin-Yosef综合征

超声龈下刮治联合替硝唑冲洗治疗慢性牙周炎临床疗效及其对龈沟液趋化因子、炎症因子及基质金属蛋白酶影响

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临床军医杂志 2024年第4期52卷 374-377页

作者：唐晓悦闫虹张怡萱曹灿北部战区总医院口腔内科辽宁沈阳110016 中国医科大学辽宁沈阳110001

目的探讨超声龈下刮治联合替硝唑冲洗治疗慢性牙周炎的临床疗效及其对龈沟液趋化因子、炎症因子及基质金属蛋白酶(MMPs)的影响。方法选取北部战区总医院自2018年1月至2019年12月收治的133例慢性牙周炎患者为研究对象。采用随机数字表法... 详细信息

目的探讨超声龈下刮治联合替硝唑冲洗治疗慢性牙周炎的临床疗效及其对龈沟液趋化因子、炎症因子及基质金属蛋白酶(MMPs)的影响。方法选取北部战区总医院自2018年1月至2019年12月收治的133例慢性牙周炎患者为研究对象。采用随机数字表法将患者分为A组(n=67)与B组(n=66)。A组患者采用无菌蒸馏水冲洗治疗,B组患者应用超声龈下刮治联合替硝唑冲洗治疗。分别于治疗前、治疗后1个月,记录并比较两组患者龈沟液趋化因子[CX3C趋化因子配体1(CX3CL1)、核因子kB受体活化因子配体蛋白(RANKL)、骨保护素(OPG)、RANKL/OPG]、炎症因子[肿瘤坏死因子α(TNF-α)、白细胞介素1β(IL-1β)、白细胞介素6(IL-6)、白细胞介素8(IL-8)]、MMPs(MMP-2、MMP-8、MMP-9)、牙周状况[牙齿松动度(TM)、牙周袋探诊深度(PD)、龈沟出血指数(SBI)、菌斑指数(PLI)]。比较两组患者的临床疗效。结果治疗后,两组患者CX3CL1、RANKL、RANKL/OPG、TNF-α、IL-1β、IL-6、IL-8、MMP-2、MMP-8、MMP-9、TM、PD、SBI、PLI均低于治疗前,且B组均低于A组,差异均有统计学意义(P<0.05)。治疗后,两组患者OPG均高于治疗前,且B组高于A组,差异均有统计学意义(P<0.05)。B组患者治疗的总有效率为90.91%(60/66),高于A组的79.10%(53/67),差异有统计学意义(P<0.05)。结论超声龈下刮治联合替硝唑冲洗治疗慢性牙周炎患者疗效确切,可有效改善其牙周状况。

关键词：慢性牙周炎超声龈下刮治替硝唑冲洗趋化因子炎症因子基质金属蛋白酶

Elaborately tuning the electronic structure of single-atom nickel sites using nickel nanoparticles to markedly enhance the electrochemical reduction of nitrate into ammonia

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能源化学:英文版 2023年第8期83卷 32-42,I0003页

作者： Zichao Xi jiaqian Wang Baocang Liu xuan Xu Peng Jing Rui Gao Jun zhang School of Chemistry and Chemical Engineering&Inner Mongolia Engineering and Technology Research Center for Catalytic Conversion and Utilization of Carbon Resource Molecules Inner Mongolia UniversityHohhot 010020InnerMongoliaChina Inner Mongolia Academy of Science and Technology Hohot 010010Inner MongoliaChina

The electrochemical reduction of nitrate to ammonia(NH3) can be used to recycle nitrogen and offers a decarbonized route for sustainable NH3production,but requires efficient ***,we have rationally designed and fabricated a novel self-supported electrocatalyst comprised of Ni nanoparticles(NiNPs) embedded in Ni single atoms(NiSAs) anchored to nitrogen-doped carbon nanotubes grown on carbon cloth(NiNPs@NiSAs-NCNTs/CC) used for an efficient nitrate reduction reaction(NO3-RR) to produce NH_(3).The electrocatalyst can attain a maximum NH3yield rate of 27.67±1.16 mgNH3h^(-1)cm^(-2)at-1.4 V *** hydrogen electrode(RHE) and nearly 100% Faradic efficiency in the range of-1.2--1.4 V *** in a neutral medium,outperforming the previously reported Ni-based *** experimental analysis and theoretical calculations have demonstrated that the moderate electrondeficient state of NiSAsregulated by NiNPsnot only facilitates the enrichment of NO_(3)^(-),but also benefits the formation of NO3*and decrease in the energy barrier of the rate-limiting step,thus resulting in the enhanced NO3-RR performance.

关键词： Nitratereductionreaction Moderateelectron-deficient state Self-supported electrocatalyst Enrichmentof NO_(3)^(-) Theoreticalcalculations

心肌钠通道Na_(V)1.5在心律失常中的作用

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生理科学进展 2024年第5期55卷 476-481页

作者：王佳琪张峰慧李玥霖胡慧媛中国医科大学中英联合学院中国医科大学药学院药物毒理学教研室沈阳110122

心律失常(cardiac arrhythmias)是世界范围内发病率和死亡率较高的心血管疾病之一,与心脏中离子通道功能破坏以及电信号在心肌细胞的传导异常有关。心肌钠通道Na_(V)1.5(cardiac sodium channel Na_(V)1.5)参与心肌细胞动作电位的启动... 详细信息

心律失常(cardiac arrhythmias)是世界范围内发病率和死亡率较高的心血管疾病之一,与心脏中离子通道功能破坏以及电信号在心肌细胞的传导异常有关。心肌钠通道Na_(V)1.5(cardiac sodium channel Na_(V)1.5)参与心肌细胞动作电位的启动和兴奋的传导,基因突变所致的Na_(V)1.5通道表达和调控异常是心律失常发生的重要生物学基础。本文综合国内外关于Na_(V)1.5通道结构和功能的介绍及通道异常表达时心律失常的研究现状,为心血管药物的研发和临床应用以及药物心脏毒性等的研究提供重要的理论依据。

关键词： Na_(V)1.5通道心律失常基因突变调控

碱熔-标准物质法-电感耦合等离子体原子发射光谱(ICP-AES)法测定硅酸盐岩中10种主量元素

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中国无机分析化学 2024年第3期14卷 292-298页

作者：李佳谢小敏刘俊玲高婧黄文静张雷长江大学地球科学学院实验中心武汉430000 长江大学资源与环境学院武汉430000 长江大学地球科学学院武汉430000

硅酸盐岩元素的准确测定是其地球化学分析研究的基础,其主量元素含量通常可以采用电感耦合等离子体原子发射光谱(ICP-AES)法测定,但其测定方法的系统性研究相对缺乏,尤其是样品前处理和基体干扰的有效消除两方面。前处理过程中,考察不... 详细信息

硅酸盐岩元素的准确测定是其地球化学分析研究的基础,其主量元素含量通常可以采用电感耦合等离子体原子发射光谱(ICP-AES)法测定,但其测定方法的系统性研究相对缺乏,尤其是样品前处理和基体干扰的有效消除两方面。前处理过程中,考察不同熔剂用量对硅酸盐岩样品的分解能力,发现当熔剂与样品比例达到6∶1后,熔珠为纯色透明,经稀硝酸提取后溶液澄清,确定了硅酸盐岩前处理时熔剂与样品的最佳配比。测定过程中,通过考察基体匹配法和标准物质法两种基体干扰消除方法对测定结果的影响,发现当采用与岩性一致或者接近的标准物质绘制校准工作曲线时,基体干扰消除效果更好,更适用于测定硅酸盐岩10种主量元素含量。据此,建立了硅酸盐岩经偏硼酸锂熔融,稀硝酸振荡提取处理,以标准物质法绘制校准工作曲线,采用ICP-AES法同时测定SiO_(2)、Fe_(2)O_(3)、Al_(2)O_(3)、CaO、K_(2)O、MgO、Na_(2)O、TiO_(2)、P_(2)O_(5)、MnO 10种成分含量的方法。对岩石标准物质GBW07107进行分析测定,方法的相对标准偏差(RSD)为0.17%~0.75%,方法检出限为0.001%~0.016%,满足硅酸盐岩样品元素定量分析的要求,而且操作简单快速,环境污染小,适用于大批量样品分析。

关键词：硅酸盐岩主量元素电感耦合等离子体原子发射光谱法偏硼酸锂碱熔基体干扰消除

Potential of six-transmembrane epithelial antigen of the prostate 4 as a prognostic marker for colorectal cancer

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World Journal of Gastrointestinal Oncology 2022年第9期14卷 1675-1688页

作者： Ze-xuan Fang Chun-Lan Li Wen-jia Chen Hua-Tao Wu Jing Liu Guangdong Provincial Key Laboratory for Diagnosis and Treatment of Breast Cancer Cancer Hospital of Shantou University Medical CollegeShantou 515041Guangdong ProvinceChina Department of General Surgery The First Affiliated Hospital of Shantou University Medical CollegeShantou 515041Guangdong ProvinceChina

BACKGROUND Immune cells play a role in the regulation of tumor cell behavior, and accumulating evidence supports their significance in predicting outcomes and therapeutic efficacy in colorectal cancers(CRC). Human six-transmembrane epithelial antigen of the prostate(STEAP) proteins have been recognized and utilized as promising targets for cell-and antibody-based immunotherapy. One STEAP family member, STEAP4, is expected to be an attractive biomarker for the immunotherapy of prostate and breast cancer. However, the immunotherapeutic role of STEAP4 for colorectal carcinomas has not been *** To explore the expression pattern of STEAPs in CRC and their relationship with immune infiltration, and investigate the potential utilization of STEAPs as novel prognostic indicators in colorectal *** The expression level of STEAPs in CRC was evaluated using various openresource databases and online tools to explore the expression characteristics and prognostic significance of STEAPs, as well as their correlation with immunerelated biomarkers, such as immune infiltration. Immunohistochemical(IHC) experiments were subsequently performed to verify the database *** The levels of STEAPs in CRC were inconsistent. The expression of STEAPs 1-3 in CRC was not significantly different from that in normal tissues. However,STEAP4 mRNA levels were significantly lower in CRC than in normal tissue and were positively correlated with immune-related biomarkers, such as immune cell infiltration, immune stimulation, major histocompatibility complex levels, and chemokines. Interestingly, the expression of STEAP4 in microsatellite instability-high CRC subtype was higher than that in microsatellite stability subtype. IHC staining was performed on colon cancer tissue samples and showed that high expression of STEAP4 in adjacent tissues positively correlated with immune-related biomarkers, including MLH1, MLH6, and PMS2, but negatively correlated with programm

关键词： Six-transmembrane epithelial antigen of the prostate Colorectal cancer Immunotherapy Target Survival

A possible mechanism of mineral responses to elevated atmospheric CO_2 in rice grains

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Journal of Integrative Agriculture 2015年第1期14卷 50-57页

作者： GUO jia zhang Ming-qian WANG Xiao-wen zhang Wei-jian Institute of Wetland Research Chinese Academy of Forestry Institute of Applied Ecology Nanjing Agricultural University Technology Center of China Tobacco Fujian Industrial Co. Ltd Chinese Academy of Engineering Institute of Crop Sciences Chinese Academy of Agricultural Sciences/Key Laboratory of Crop EcologyPhysiology & ProductionMinistry of Agriculture

Increasing attentions have been paid to mineral concentration decrease in milled rice grains caused by CO2 enrichment, but the mechanisms still remain unclear. Therefore, mineral （Ca, Mg, Fe, Zn and Mn） translocation in plant-soil system with a FACE （Free-air CO2 enrichment） experiment were investigated in Eastern China after 4-yr operation. Results mainly showed that：（1） elevated CO2 significantly increased the biomass of stem and panicle by 21.9 and 24.0%, respectively, but did not affect the leaf biomass. （2） Elevated CO2 significantly increased the contents of Ca, Mg, Fe, Zn, and Mn in panicle by 61.2, 28.9, 87.0, 36.7, and 66.0%, respectively, and in stem by 13.2, 21.3, 47.2, 91.8, and 25.2%, respectively, but did not affect them in leaf. （3） Elevated CO2 had positive effects on the weight ratio of mineral/biomass in stem and panicle. Our results suggest that elevated CO2 can favor the translocation of Ca, Mg, Fe, Zn, and Mn from soil to stem and panicle. The CO2-led mineral decline in milled rice grains may mainly attribute to the CO2-1ed unbalanced stimulations on the translocations of minerals and carbohydrates from vegetative parts （e.g., leaf, stem, branch and husk） to the grains.

关键词： climate change free-air CO2 enrichment (FACE) hidden hunger nutritional quality paddy field rice

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航空发动机燃油和控制系统的研究进展

内燃机与配件 2024年第17期 130-132页

作者：贾慧曹芸张清宇中国航发南方工业有限公司湖南株洲412000

本文旨在研究航空发动机燃油和控制系统的最新进展。从全数字化控制系统、自适应控制算法、神经网络控制技术以及故障诊断与容错控制策略等方面,介绍了该领域中的创新和改进。接着,对国内外研究进展进行了比较分析,总结了存在的问题和... 详细信息

本文旨在研究航空发动机燃油和控制系统的最新进展。从全数字化控制系统、自适应控制算法、神经网络控制技术以及故障诊断与容错控制策略等方面,介绍了该领域中的创新和改进。接着,对国内外研究进展进行了比较分析,总结了存在的问题和挑战。

关键词：航空发动机燃油系统控制系统

Stable Isotope Studies of Crop Carbon and Water Relations:A Review

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Agricultural Sciences in China 2009年第5期8卷 578-590页

作者： zhang Cong-zhi zhang jia-bao ZHAO Bing-zi zhang Hui HUANG Ping State Experimental Station of Agro-Ecosystem in Fengqiu/State Key Laboratory of Soil and Sustainable Agriculture Institute of Soil Science Chinese Academy of Sciences Nanjing 210008 P.R.China Graduate School of the Chinese Academy of Sciences Beijing 100049 P.R.China

Crop carbon and water relations research is important in the studies of water saving agriculture, breeding program, and energy and material cycles in soil plant atmosphere continuum （SPAC）. The purpose of this paper is to review the current state of knowledge on stable isotopes of carbon, oxygen, and hydrogen in the research of crop carbon and water relations, such as carbon isotope discrimination （△^13C） during carbon fixation process by photosynthesis, application of △^13C in crop water use efficiency （WUE） and breeding programs, oxygen isotope enrichment during leaf water transpiration, CO2 fixation by photosynthesis and release by respiration, application of hydrogen isotope composition （619） and oxygen isotope composition （6180） for determination of water source used by a crop, stable isotope coupling Keeling plot for investigating the carbon and water flux in ecosystem, energy and material cycle in SPAC and correlative integrative models on stable isotope. These aspects contain most of the stable isotope researches on crop carbon and water relations which have been widely explored internationally while less referred in China. Based on the reviewed literatures, some needs for future research are suggested.

关键词： carbon fixation crop review stable isotopes water relations