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Dinitrophenyl-oxadiazole compounds:Design strategy,synthesis,and properties of a series of new melt-cast explosives
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作者 Bao-long Kuang Ting-wei Wang +6 位作者 Cong Li Mou Sun Qamar-un-Nisa Tariq Chao zhang Zhi-ming Xie Zu-jia Lu jian-guo zhang 《Defence Technology(防务技术)》 SCIE EI CAS CSCD 2024年第5期100-107,共8页
Melt-cast explosives are the most widely used energetic materials in military composite explosives,researchers have been unremittingly exploring high-energy and insensitive melt-cast explosives.In this work,a series o... Melt-cast explosives are the most widely used energetic materials in military composite explosives,researchers have been unremittingly exploring high-energy and insensitive melt-cast explosives.In this work,a series of dinitrophenyl-oxadiazole compounds were designed and prepared.These compounds have an ideal low melting point(80-97℃),good detonation performance(detonation velocity D=6455-6971 m/s,detonation pressure P=18-19 GPa)and extreme insensitive nature(impact sensitivity≥60 J,friction sensitivity>360 N).All these compounds were well characterized by nuclear magnetic resonance,fourier transform infrared spectroscopy,elemental analysis.Compounds 2,3 were unambiguously confirmed by X-ray single crystal diffraction analysis.As a result,their overall properties are superior to traditional melt-cast explosives trinitrotoluene(TNT)and dinitroanisole(DNAN)which may have excellent potential applications in insensitive melt-cast explosives. 展开更多
关键词 Dinitrophenyl-oxadiazole Melt-cast explosive Low sensitivity
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Mental health and insomnia problems in healthcare workers after the COVID-19 pandemic:A multicenter cross-sectional study
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作者 Wei Ding Min-Zhong Wang +8 位作者 Xian-Wei Zeng Zhen-Hua Liu Yao Meng Hui-Ting Hu Yuan zhang Yu-Guang Guan Fan-Gang Meng jian-guo zhang Shu Wang 《World Journal of Psychiatry》 SCIE 2024年第5期704-714,共11页
BACKGROUND Healthcare workers(HCWs)are at increased risk of contracting coronavirus disease 2019(COVID-19)as well as worsening mental health problems and insomnia.These problems can persist for a long period,even afte... BACKGROUND Healthcare workers(HCWs)are at increased risk of contracting coronavirus disease 2019(COVID-19)as well as worsening mental health problems and insomnia.These problems can persist for a long period,even after the pandemic.However,less is known about this topic.AIM To analyze mental health,insomnia problems,and their influencing factors in HCWs after the COVID-19 pandemic.METHODS This multicenter cross-sectional,hospital-based study was conducted from June 1,2023 to June 30,2023,which was a half-year after the end of the COVID-19 emergency.Region-stratified population-based cluster sampling was applied at the provincial level for Chinese HCWs.Symptoms such as anxiety,depression,and insomnia were evaluated by the Generalized Anxiety Disorder-7,Patient Health Questionnaire-9,and Insomnia Severity Index.Factors influencing the symptoms were identified by multivariable logistic regression.RESULTS A total of 2000 participants were invited,for a response rate of 70.6%.A total of 1412 HCWs[618(43.8%)doctors,583(41.3%)nurses and 211(14.9%)nonfrontline],254(18.0%),231(16.4%),and 289(20.5%)had symptoms of anxiety,depression,and insomnia,respectively;severe symptoms were found in 58(4.1%),49(3.5%),and 111(7.9%)of the participants.Nurses,female sex,and hospitalization for COVID-19 were risk factors for anxiety,depression,and insomnia symptoms;moreover,death from family or friends was a risk factor for insomnia symptoms.During the COVID-19 outbreak,most[1086(76.9%)]of the participating HCWs received psychological interventions,while nearly all[994(70.4%)]of them had received public psychological education.Only 102(7.2%)of the HCWs received individual counseling from COVID-19.CONCLUSION Although the mental health and sleep problems of HCWs were relieved after the COVID-19 pandemic,they still faced challenges and greater risks than did the general population.Identifying risk factors would help in providing targeted interventions.In addition,although a major proportion of HCWs have received public psychological education,individual interventions are still insufficient. 展开更多
关键词 COVID-19 Mental health Psychological symptoms INSOMNIA Sleep disorders Cross-sectional study Epidemiological study
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Sex modulates the outcome of subthalamic nucleus deep brain stimulation in patients with Parkinson's disease 被引量:1
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作者 Tian-Shuo Yuan Ying-Chuan Chen +5 位作者 De-Feng Liu Ruo-Yu Ma Xin zhang Ting-Ting Du Guan-Yu Zhu jian-guo zhang 《Neural Regeneration Research》 SCIE CAS CSCD 2023年第4期901-907,共7页
There are many documented sex differences in the clinical course,symptom expression profile,and treatment response of Parkinson’s disease,creating additional challenges for patient management.Although subthalamic nuc... There are many documented sex differences in the clinical course,symptom expression profile,and treatment response of Parkinson’s disease,creating additional challenges for patient management.Although subthalamic nucleus deep brain stimulation is an established therapy for Parkinson’s disease,the effects of sex on treatment outcome are still unclear.The aim of this retrospective observational study,was to examine sex differences in motor symptoms,nonmotor symptoms,and quality of life after subthalamic nucleus deep brain stimulation.Outcome measures were evaluated at 1 and 12 months post-operation in 90 patients with Parkinson’s disease undergoing subthalamic nucleus deep brain stimulation aged 63.00±8.01 years(55 men and 35 women).Outcomes of clinical evaluations were compared between sexes via a Student’s t-test and within sex via a paired-sample t-test,and generalized linear models were established to identify factors associated with treatment efficacy and intensity for each sex.We found that subthalamic nucleus deep brain stimulation could improve motor symptoms in men but not women in the on-medication condition at 1 and 12 months post-operation.Restless legs syndrome was alleviated to a greater extent in men than in women.Women demonstrated poorer quality of life at baseline and achieved less improvement of quality of life than men after subthalamic nucleus deep brain stimulation.Furthermore,Hoehn-Yahr stage was positively correlated with the treatment response in men,while levodopa equivalent dose at 12 months post-operation was negatively correlated with motor improvement in women.In conclusion,women received less benefit from subthalamic nucleus deep brain stimulation than men in terms of motor symptoms,non-motor symptoms,and quality of life.We found sex-specific factors,i.e.,Hoehn-Yahr stage and levodopa equivalent dose,that were related to motor improvements.These findings may help to guide subthalamic nucleus deep brain stimulation patient selection,prognosis,and stimulation programming for optimal therapeutic efficacy in Parkinson’s disease. 展开更多
关键词 chronic effect deep brain stimulation generalized linear model initial effect motor symptoms non-motor symptoms Parkinson’s disease quality of life SEX subthalamic nucleus
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Synthesis of energetic coordination polymers based on 4-nitropyrazole by solid-melt crystallization in non-ionization condition
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作者 Ting-wei Wang Shu Bu +4 位作者 Kun Wang Lu zhang Zhen-xin Yi Shun-guan Zhu jian-guo zhang 《Defence Technology(防务技术)》 SCIE EI CAS CSCD 2023年第10期13-22,共10页
Based on the theory of crystallization,a solvent-free solid-liquid phase crystallization method called solid-melt crystallization was designed to prepare energetic coordination polymers.Two target compounds[Cu(NPyz)_(... Based on the theory of crystallization,a solvent-free solid-liquid phase crystallization method called solid-melt crystallization was designed to prepare energetic coordination polymers.Two target compounds[Cu(NPyz)_(4)NO_(3)]·NO_(3)(ECPs-1)and Cu(NPyz)_(4)(ClO_(4))_(2)(ECCs-2)were prepared through programmed heating and cooling by using 4-nitropyrazole(NPyz),(Cu(NO_(3))_(2)·5H_(2)O and Cu(ClO_(4))_(2)·5H_(2)O) as raw materials.In addition,crystallization pre-experiments and annealing experiments also verified the feasibility of the method.Their structures were confirmed by IR,elemental analysis,single-crystal X-ray diffraction and powder X-ray diffraction.The physicochemical properties and sensitivity test results showed that ECCs-2 has better thermal stability(T_(d)=221℃),while ECPs-1 is less sensitive to mechanical stimuli(IS=12 J,FS=240 N).Calculations based on EXPLO5 and the Kamlet-Jacobs equation showed that ECCs-2 has more considerable detonation performance(P=25.2 GPa,D=7.5 km/s).In comparison,the more intuitive results from the HN test,flame test,thermal resistance test and lead plate explosion test revealed that ECCs-2 has an“acceptable”detonation performance.The laser detonation test also showed that ECCs-2 is a promising excellent laser detonation material(E=408 mJ,P=24 W,τ=17 ms). 展开更多
关键词 4-Amino-1 2 5-oxadiazole-3-carbohydrazide Crystallization Coordination polymers Laser Primary explosives
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基于流体包裹体及稳定同位素的河北平泉下金宝金矿床成矿机理(英文)
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作者 张建国 邵拥军 +2 位作者 汪程 刘忠法 熊伊曲 《Transactions of Nonferrous Metals Society of China》 SCIE EI CAS CSCD 2017年第6期1363-1373,共11页
下金宝金矿床位于永安—下营房—毛家沟金多金属成矿带。本文作者以河北下金宝金矿床流体包裹体和稳定同位素为研究对象,分析了本区成矿物质来源、成矿流体来源及其演化,进而探讨本矿床的成矿机理。宏观地质特征和S、Pb同位素示踪结果表... 下金宝金矿床位于永安—下营房—毛家沟金多金属成矿带。本文作者以河北下金宝金矿床流体包裹体和稳定同位素为研究对象,分析了本区成矿物质来源、成矿流体来源及其演化,进而探讨本矿床的成矿机理。宏观地质特征和S、Pb同位素示踪结果表明,本区成矿物质主要由下金宝花岗质岩浆提供,部分来源于围岩。H、O同位素组成特征显示,本区成矿流体来源于岩浆水。流体包裹体特征表明,本区早阶段的成矿流体在演化过程中发生了沸腾作用,导致金的沉淀,中、晚阶段成矿物质沉淀的主导因素为流体的混合作用,而水/岩反应促使金沉淀的现象贯穿成矿的始终。 展开更多
关键词 流体包裹体 稳定同位素 成矿物质来源 成矿机理 下金宝金矿床
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新型冠状病毒肺炎患者临床特征与心肌损伤标志物的变化 被引量:3
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作者 章晋辉 徐留胜 +2 位作者 郭雨萌 张建国 陶志敏 《医学新知》 CAS 2021年第5期342-349,共8页
目的分析COVID-19患者的临床特征与心肌损伤标志物的变化。方法回顾性收集2020年2月1日至2020年3月15日武汉市江夏区第一人民医院收治的COVID-19患者的临床资料,比较ICU组与非ICU组COVID-19患者在临床症状、实验室检查指标等方面的差异... 目的分析COVID-19患者的临床特征与心肌损伤标志物的变化。方法回顾性收集2020年2月1日至2020年3月15日武汉市江夏区第一人民医院收治的COVID-19患者的临床资料,比较ICU组与非ICU组COVID-19患者在临床症状、实验室检查指标等方面的差异性。结果共纳入135例COVID-19患者,其中ICU组30例,非ICU组105例。ICU组患者在年龄(64.0 vs. 54.0)、基础疾病占比(56.7%vs.27.6%)方面显著高于非ICU组,但两组在性别上的差异无统计学意义。ICU组临床症状发生率普遍略高于非ICU组,但仅在呼吸困难(20.0%vs. 3.8%)方面两组差异达到统计学意义。ICU组在白细胞计数、中性粒细胞百分比、谷丙转氨酶、谷草转氨酶、尿素氮、肌酸激酶同工酶、肌红蛋白、乳酸脱氢酶等指标水平及其异常人数占比方面均显著高于非ICU组。ICU组中,死亡患者在肌钙蛋白T、肌酸激酶同工酶、肌红蛋白标志物水平与异常人数占比方面显著高于存活患者。结论伴有基础疾病的高龄COVID-19患者更易进展为危重症,COVID-19患者心肌损伤标志物水平的异常与患者病情严重程度和预后有一定相关性。 展开更多
关键词 新型冠状病毒 新型冠状病毒肺炎 心肌标志物 血管紧张素转化酶2
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Nitro-tetrazole based high performing explosives:Recent overview of synthesis and energetic properties 被引量:4
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作者 Saira Manzoor Qamar-un-nisa Tariq +1 位作者 Xin Yin jian-guo zhang 《Defence Technology(防务技术)》 SCIE EI CAS CSCD 2021年第6期1995-2010,共16页
Heterocyclic skeleton(Azoles)and different energetic groups containing high performing explosives are highly emerged in recent years to meet the challenging requirements of energetic materials in both military and civ... Heterocyclic skeleton(Azoles)and different energetic groups containing high performing explosives are highly emerged in recent years to meet the challenging requirements of energetic materials in both military and civilian applications with improved performance.For this purpose tetrazole(Azole)is identified as an attractive heterocyclic backbone with energetic functional groups nitro(-NO_(2)),nitrato(-ONO_(2)),nitrimino(-NNO_(2)),and nitramino(eNHeNO_(2))to replace the traditionally used high performing explosives.The tetrazole based compounds having these energetic functional groups demonstrated advanced energetic performance(detonation velocity and pressure),densities,and heat of formation(HOF)and became a potential replacement of traditional energetic compounds such as RDX.This review presents a summary of the recently reported nitro-tetrazole energetic compounds containing poly-nitro,di/mono-nitro,nitrato/nitramino/nitrimino,bridged/bis/di tetrazole and nitro functional groups,describing their preparation methods,advance energetic properties,and further applications as highperforming explosives,especially those reported in the last decade.This review aims to provide a fresh concept for designing nitro-tetrazole based high performing explosives together with major challenges and perspectives. 展开更多
关键词 TETRAZOLE Energetic materials Functional groups HETEROCYCLIC High-performing explosives
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Recent advances on the nitrogen-rich 1,2,4-oxadiazole-azoles-based energetic materials 被引量:1
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作者 Wen-Li Cao Qamar-un-Nisa Tariq +2 位作者 Zhi-Min Li Jun-Qing Yang jian-guo zhang 《Defence Technology(防务技术)》 SCIE EI CAS CSCD 2022年第3期344-367,共24页
This review covers recent advances in the synthesis and energetic performance of nitrogen-rich 1,2,4-oxadiazole-azoles-based energetic materials.These materials comprise of 1,2,4-oxadiazole subunit as a key structural... This review covers recent advances in the synthesis and energetic performance of nitrogen-rich 1,2,4-oxadiazole-azoles-based energetic materials.These materials comprise of 1,2,4-oxadiazole subunit as a key structural motif linked to different nitrogen-rich or nitrogen-oxygen azoles:tetrazole,furazan,furoxan,1,3,4-oxadiazole,pyrazole,and triazole.Particular attention is devoted to the introduction of various energetic groups including nitro,nitramino,azo,azoxy,dinitromethyl,trinitroethyl moieties,and their combination.The physicochemical and available performance parameters including density,decomposition temperature,heat of formation,detonation pressure,detonation velocity,impact sensitivity,and friction sensitivity of typical energetic compounds are also provided and analyzed.Eventually,it was obtained that several screened compounds exhibit superior detonation properties and outstanding insensitivities,which can be classified as a new family of high-performance energetic materials.Additionally,1,2,4-oxadiazole-azoles-based energetic materials still have many thorough works to further exploited and studied,expecting to get very promising insensitive high explosives for practical application and industrialization. 展开更多
关键词 1 2 4-Oxadiazole-azoles Triazole TETRAZOLE FURAZAN Energetic materials FUROXAN
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Recent advances in the synthesis and energetic properties of potassium-based potential green primary explosives 被引量:1
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作者 Qamar-un-Nisa Tariq Saira Manzoor +2 位作者 Maher-un-Nisa Tariq Wen-Li Cao jian-guo zhang 《Defence Technology(防务技术)》 SCIE EI CAS CSCD 2022年第11期1945-1959,共15页
Primary explosives are utilized as a reliable initiator for secondary explosives in an extensive range of military and civilian operations. Heavy-metal-based primary explosives are moderate performing, more sensitive,... Primary explosives are utilized as a reliable initiator for secondary explosives in an extensive range of military and civilian operations. Heavy-metal-based primary explosives are moderate performing, more sensitive, and environmentally hazardous, posing a direct and indirect threat to health and safety.Therefore, heavy-metal-based primaries have been replaced by environment-friendly metal-based primary explosives, such as potassium complexes. This review presents not only a summary of the current progress of new-generation potassium-based primary explosives and their methods of preparation, energetic properties, and applications, but also a further comparison with traditional primary explosives. In addition, this work discusses the necessity of heavy metal-free primary explosives and the major challenges faced in replacing traditional primary explosives. 展开更多
关键词 Green primary explosives Heterocyclic compounds SYNTHESIS Energetic properties
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Molecular mechanisms for Haikunshenxi capsule combined with conventional western medicine to improve renal function in patients with diabetic nephropathy 被引量:1
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作者 jian-guo zhang 《Journal of Hainan Medical University》 2017年第6期53-56,共4页
Objective:To study the molecular mechanisms for Haikunshenxi capsule combined with conventional western medicine to improve renal function in patients with diabetic nephropathy. Methods: A total of 146 patients with d... Objective:To study the molecular mechanisms for Haikunshenxi capsule combined with conventional western medicine to improve renal function in patients with diabetic nephropathy. Methods: A total of 146 patients with diabetic nephropathy treated in our hospital between May 2013 and December 2015 were selected as the research subjects and randomly divided into two groups, 73 in each group. The observation group of patients received Haikunshenxi capsule combined with conventional western medicine treatment, and the control group of patients received routine western medicine treatment. 4 weeks after treatment, the renal biochemical indexes, renal fibrosis indexes and oxidative stress indexes in blood and urine were determined.Results:4 weeks after treatment, serum creatinine (Scr), blood urea nitrogen (BUN), cystatin C (CysC), transforming growth factor-β1 (TGF-β1), connective tissue growth factor (CTGF), fibronectin (FN), laminin (LN) and type IV collagen (IV-Col) content in blood of observation group were significantly lower than those of control group (P<0.05), and 24 h urine protein, urine albumin/creatinine ratio (UACR) level as well as alkaline phosphatase (ALP),γ-glutamyl transpeptidase (GGT), malondialdehyde (MDA) and 8-hydroxy-2'-deoxyguanosine (8-OHdG) content in urine of observation group were significantly lower than those of control group (P<0.05) while superoxide dismutase (SOD) and glutathione peroxidase (GSH-Px) content in urine were significantly higher than those of control group (P<0.05).Conclusions:Haikunshenxi capsule combined with conventional western medicine can improve renal function in patients with diabetic nephropathy through the molecular mechanisms of inhibiting renal fibrosis and reducing oxidative stress. 展开更多
关键词 DIABETIC NEPHROPATHY Haikunshenxi CAPSULE RENAL function FIBROSIS OXIDATIVE stress
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Depressed female cynomolgus monkeys(Macaca fascicularis) display a higher second-to-fourth(2D:4D)digit ratio
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作者 Wei Li Ling-Yun Luo +6 位作者 Xun Yang Yong He Bin Lian Chao-Hua Qu Qing-Yuan Wu jian-guo zhang Peng Xie 《Zoological Research》 SCIE CAS CSCD 2019年第3期219-225,共7页
This research aimed to provide evidenee of a relationship between digit ratio and depression status in the cynomolgus monkey(Macaca fascicularis).In stable cyno molgus mon key social groups,we selected 15 depressed mo... This research aimed to provide evidenee of a relationship between digit ratio and depression status in the cynomolgus monkey(Macaca fascicularis).In stable cyno molgus mon key social groups,we selected 15 depressed monkeys based on depressive-like behavioral criteria and 16 normal control mon keys.All animals were video recorded for two weeks,with the duration and frequency of the core depressive behaviors and 58 other behaviors in 12 behavioral categories then evaluated via behavioral analysis.Fin ger len gths from the right and left forelimb hands of both groups were measured by X-ray imagi ng.Fin ger length and digit ratio comparisons between the two groups were con ducted using Stude nt's Mest.In terms of the durati on of each behavior,signifies nt differences emerged in“Huddling”and five other behavioral categories,including Ingestive,Amicable,Parental,Locomotive,and Resting.In addition to the above five behavioral categories,we found that depressed mon keys spent less time in parental and rubbing back and forth behaviors than the control group.Furthermore,the 4th fin gers were significantly Ion ger in the left and right hands in the control group relative to the depressed mon keys.The sec ond?to?fourth(2D:4D)digit ratio in the left and right forelimb hands was significantly lower in the control group tha n that in the depressed group.Our fin dings revealed significant differences in finger lengths and digit ratios between depressed mon keys and healthy controls,which concords with our view that relatively high fetal testosterone exposure may be a protective factor against developing depressive symptoms(or that low fetal testosterone exposure is a risk factor). 展开更多
关键词 FIN ger length DIGIT ratio Major DEPRESSIVE disorder CYNOMOLGUS MON key
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A novel CRX mutation by whole-exome sequencing in an autosomal dominant cone-rod dystrophy pedigree
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作者 Qin-Kang Lu Na Zhao +9 位作者 Ya-Su Lv Wei-Kun Gong Hui-Yun Wang Qi-Hu Tong Xiao-Ming Lai Rong-Rong Liu Ming-Yan Fang jian-guo zhang Zhen-Fang Du Xian-Ning zhang 《International Journal of Ophthalmology(English edition)》 SCIE CAS 2015年第6期1112-1117,共6页
AIMTo identify the disease-causing gene mutation in a Chinese pedigree with autosomal dominant cone-rod dystrophy (adCORD).METHODSA southern Chinese adCORD pedigree including 9 affected individuals was studied. Whole-... AIMTo identify the disease-causing gene mutation in a Chinese pedigree with autosomal dominant cone-rod dystrophy (adCORD).METHODSA southern Chinese adCORD pedigree including 9 affected individuals was studied. Whole-exome sequencing (WES), coupling the Agilent whole-exome capture system to the Illumina HiSeq 2000 DNA sequencing platform was used to search the specific gene mutation in 3 affected family members and 1 unaffected member. After a suggested variant was found through the data analysis, the putative mutation was validated by Sanger DNA sequencing of samples from all available family members.RESULTSThe results of both WES and Sanger sequencing revealed a novel nonsense mutation c.C766T (p.Q256X) within exon 5 of CRX gene which was pathogenic for adCORD in this family. The mutation could affect photoreceptor-specific gene expression with a dominant-negative effect and resulted in loss of the OTX tail, thus the mutant protein occupies the CRX-binding site in target promoters without establishing an interaction and, consequently, may block transactivation.CONCLUSIONAll modes of Mendelian inheritance in CORD have been observed, and genetic heterogeneity is a hallmark of CORD. Therefore, conventional genetic diagnosis of CORD would be time-consuming and labor-intensive. Our study indicated the robustness and cost-effectiveness of WES in the genetic diagnosis of CORD. 展开更多
关键词 cone-rod dystrophy autosomal dominant cone-rod dystrophy whole-exome sequencing Sanger sequencing CRX gene MUTATION
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Study on Rational Well Spacing Optimization of Low Permeability Gas Reservoir
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作者 jian-guo zhang Yong Wu Fang Ai 《Advances in Materials Physics and Chemistry》 2012年第4期173-176,共4页
The Shanggu gas field is the low porosity and low permeability. Single well controlled reserves, economic limit well spacing and economic rational spacing through different methods are calculated. With the development... The Shanggu gas field is the low porosity and low permeability. Single well controlled reserves, economic limit well spacing and economic rational spacing through different methods are calculated. With the development experience of Su Lige gas field as guidance, the rational spacing of Shanggu gas reservoir is 700m×900m by calculating daily gas production rate and cumulative gas production with different well spacing using numerical simulation method. 展开更多
关键词 Low PERMEABILITY RATIONAL WELL SPACING WELL Pattern Density RESERVOIR NUMERICAL Simulation
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A novel mutation in PRPF31,causative of autosomal dominant retinitis pigmentosa,using the BGISEQ-500 sequencer
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作者 Yu Zheng Hai-Lin Wang +9 位作者 Jian-Kang Li Li Xu Laurent Tellier Xiao-Lin Li Xiao-Yan Huang Wei Li Tong-Tong Niu Huan-Ming Yang jian-guo zhang Dong-Ning Liu 《International Journal of Ophthalmology(English edition)》 SCIE CAS 2018年第1期31-35,共5页
AIM: To study the genes responsible for retinitis pigmentosa.METHODS: A total of 15 Chinese families with retinitis pigmentosa, containing 94 sporadically afflicted cases, were recruited. The targeted sequences were... AIM: To study the genes responsible for retinitis pigmentosa.METHODS: A total of 15 Chinese families with retinitis pigmentosa, containing 94 sporadically afflicted cases, were recruited. The targeted sequences were captured using the Target_Eye_365_V3 chip and sequenced using the BGISEQ-500 sequencer, according to the manufacturer's instructions. Data were aligned to UCSC Genome Browser build hg19, using the Burroughs Wheeler Aligner MEM algorithm. Local realignment was performed with the Genome Analysis Toolkit(GATK v.3.3.0) Indel Realigner, and variants were called with the Genome Analysis Toolkit Haplotypecaller, without any use of imputation. Variants were filtered against a panel derived from 1000 Genomes Project, 1000 G_ASN, ESP6500, Ex AC and db SNP138. In all members of Family ONE and Family TWO with available DNA samples, the genetic variant was validated using Sanger sequencing.RESULTS: A novel, pathogenic variant of retinitis pigmentosa, c.357_358 del AA(p.Ser119 Serfs X5) was identified in PRPF31 in 2 of 15 autosomal-dominant retinitis pigmentosa(ADRP) families, as well as in one, sporadic case. Sanger sequencing was performed uponprobands, as well as upon other family members. This novel, pathogenic genotype co-segregated with retinitis pigmentosa phenotype in these two families. CONCLUSION: ADRP is a subtype of retinitis pigmentosa, defined by its genotype, which accounts for 20%-40% of the retinitis pigmentosa patients. Our study thus expands the spectrum of PRPF31 mutations known to occur in ADRP, and provides further demonstration of the applicability of the BGISEQ500 sequencer for genomics research. 展开更多
关键词 retinitis pigmentosa PRPF31 BGISEQ-500
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Unique mutation spectrum of progressive pseudorheumatoid dysplasia in the Chinese population:a retrospective genotype-phenotype analysis of 105 patients
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作者 Wei Wang Si-Hao Gao +10 位作者 Min Weil Lin-Qing Zhong Wei Liu Shan Jian Juan Xiao Cai-Hui zhang jian-guo zhang Xiao-Feng Zeng Wei-Bo Xia Zheng-Qing Qiu Hong-Mei Song 《World Journal of Pediatrics》 SCIE CSCD 2023年第7期674-686,共13页
Background Progressive pseudorheumatoid dysplasia(PPRD)is a rare genetic disease with autosomal recessive inherit-ance.There was a lack of genotype-phenotype correlation data from the Chinese population.This study aim... Background Progressive pseudorheumatoid dysplasia(PPRD)is a rare genetic disease with autosomal recessive inherit-ance.There was a lack of genotype-phenotype correlation data from the Chinese population.This study aimed to identify the genotype and phenotype characteristics of Chinese PPRD patients and to conduct a genotype-phenotype analysis of Chinese PPRD patients.Methods Genetic analysis was performed for suspected PPRD patients from Peking Union Medical College Hospital.Medi-cal records were collected from the electronic medical record system and patient-held portable health records.Published Chinese PPRD cases were gathered from both international and Chinese local databases.We collected demographic infor-mation,genetic variants,clinical manifestations,and imaging characteristics for further analysis.Results We included 105 Chinese PPRD patients in the current study.Thirty-three variants,including nine novels and five hotspot variants,were identified,with 26/33(79%)variants exclusively seen in the Chinese population.Chinese PPRD patients share a phenotype similar to that in international reports.Joint involvement may progress with age(R2=0.2541).Long bone shortening and severe deformities occur in three patients with biallelic null variants,of which at least one vari-ant is located in exon 2.Among hotspot variants,c.624dupA(p.C209Mfs*21)were associated with later onset and more involved joints.Elbow joints were more likely to be affected in patients carrying c.624dupA(p.C209Mfs*21)and c.866dupA(p.S209Efs*13).Shoulder joints are more likely to be involved in patients with biallelic null variants(P=0.027).Conclusions Chinese PPRD patients share a unique mutation spectrum.Among the five hotspot variants,c.624dupA is associated with later onset of disease,more extensive joint involvement,and a tendency to affect elbow joints.Biallelic null variants with at least one variant in exon 2 could be a likely cause of long bone shortening and severe deformities. 展开更多
关键词 CCN6 GENETICS MUTATIONS Progressive pseudorheumatoid dysplasia WISP3
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Research progress on the etiology and pathogenesis of adolescent idiopathic scoliosis 被引量:50
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作者 Yue Peng Sheng-Ru Wang +2 位作者 Gui-Xing Qiu jian-guo zhang Qian-Yu Zhuang 《Chinese Medical Journal》 SCIE CAS CSCD 2020年第4期483-493,共11页
Etiology of adolescent idiopathic scoliosis(AIS),a complicated three-dimensional spinal deformity with early-onset,receives continuous attention but remains unclear.To gain an insight into AIS pathogenesis,this review... Etiology of adolescent idiopathic scoliosis(AIS),a complicated three-dimensional spinal deformity with early-onset,receives continuous attention but remains unclear.To gain an insight into AIS pathogenesis,this review searched PubMed database up to June 2019,using key words or medical subject headings terms including"adolescent idiopathic scoliosis,""scoliosis,""pathogenesis,""etiology,""genetics,""mesenchymal stem cells,"and their combinations,summarized existing literatures and categorized the theories or hypothesis into nine aspects.These aspects include bone marrow mesenchymal stem cell studies,genetic studies,tissue analysis,spine biomechanics measurements,neurologic analysis,hormone studies,biochemical analysis,environmental factor analysis,and lifestyle explorations.These categories could be a guidance for further etiology or treatment researches to gain inspiration. 展开更多
关键词 SCOLIOSIS PATHOGENESIS ETIOLOGY MESENCHYMAL STEM CELLS
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Treatment of early-onset scoliosis: techniques, indications, and complications 被引量:13
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作者 Yan-Bin zhang jian-guo zhang 《Chinese Medical Journal》 SCIE CAS CSCD 2020年第3期351-357,共7页
The treatments for early-onset scoliosis(EOS)remain great challenges for spine surgeons.This study aimed to comprehensively review the treatments for EOS,especially the advancements made in the last decade.Current stu... The treatments for early-onset scoliosis(EOS)remain great challenges for spine surgeons.This study aimed to comprehensively review the treatments for EOS,especially the advancements made in the last decade.Current studies on EOS were retrieved through a search on PubMed,UpToDate,the Web of Science Core Collection and Scopus were reviewed.The most pertinent information related to the current treatments for EOS was collected.The foci of treatments for EOS have included creating a well-developed thoracic cavity,improving lung volume,and improving pulmonary function.Conservative treatments include bracing,casting,halo-gravity traction,and physiotherapy.Serial casting is the most effective conservative treatment for EOS.Surgical treatments mainly include growth-friendly techniques,which are generally classified into three types according to the amount of correction force applied:distraction-based,compression-based,and growth-guided.The distraction-based systems include traditional or conventional growing rods,magnetically controlled growing rods,and vertical expandable prosthesis titanium ribs.The compression-based systems include vertebral body stapling and tethering.The growth-guided systems include the Shilla system and modern Luque trolley.In addition,some newer techniques have emerged in recent years,such as posterior dynamic deformity correction(ApiFix).For EOS patients presenting with sharp deformities in a long,congenital spinal deformity,a hybrid technique,one-stage posterior osteotomy with short segmental fusion and dual growing rods,may be a good choice.Hemivertebra resection is the gold standard for congenital scoliosis caused by single hemivertebra.Although the patient’s growth potential is preserved in growth-friendly surgeries,a high complication rate should be expected,as well as a prolonged treatment duration and additional costs.Knowledge about EOS and its treatment options is rapidly expanding.Conservative treatments have specific limitations.For curves requiring a surgical intervention,surgical techniques may vary depending on the patients’characteristics,the surgeon’s experience,and the actual state of the country. 展开更多
关键词 EARLY-ONSET SCOLIOSIS TECHNIQUES CONSERVATIVE treament HEMIVERTEBRA resection Fusionless Growth-friendly
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Clinical practice guidelines for sentinel lymph node biopsy in patients with early-stage breast cancer: Chinese Society of Breast Surgery (CSBrS) practice guidelines 2021 被引量:30
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作者 Jing-Ming Ye Bao-Liang Guo +10 位作者 Qian Liu Fei Ma Hong-Jin Liu Qian Wu Ling Xin Yuan-Jia Cheng Hong zhang Shuang zhang Xue-Ning Duan jian-guo zhang Yin-Hua Liu 《Chinese Medical Journal》 SCIE CAS CSCD 2021年第8期886-894,共9页
Axillary lymph node assessment is one of the important indicators in the clinical pathological staging of breast cancer.Studies have shown that sentinel lymph node biopsy(SLNB)has the advantages of fewer complications... Axillary lymph node assessment is one of the important indicators in the clinical pathological staging of breast cancer.Studies have shown that sentinel lymph node biopsy(SLNB)has the advantages of fewer complications and less trauma than conventional axillary lymph node dissection(ALND)/[1] Common mapping methods for SLNB include blue dye,radioisotopes,a combination of blue dye and radioisotopes,and fluorescence imaging. 展开更多
关键词 SURGERY LYMPH BIOPSY
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Clinical information and management status of de novo stage IV breast cancer patients: a Chinese multicenter investigation (CSBrS-002) 被引量:8
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作者 Ang Zheng Bao-Liang Guo +2 位作者 jian-guo zhang Feng Jin Chinese Society of Breast Surgery 《Chinese Medical Journal》 SCIE CAS CSCD 2021年第13期1569-1575,共7页
Background:Although de novo stage IV breast cancer is so far incurable,it has entered an era of individualized treatment and chronic disease management.Based on systemic treatment,whether the surgical resection of pri... Background:Although de novo stage IV breast cancer is so far incurable,it has entered an era of individualized treatment and chronic disease management.Based on systemic treatment,whether the surgical resection of primary or metastatic foci of de novo stage IV breast cancer can bring survival benefits is currently controversial.We aimed to explore the clinicopathological factors and current status of the management of de novo stage IV breast cancer in China to provide a reference for clinical decisions.Methods:Based on the assistance of Chinese Society of Breast Surgery,a retrospective study was conducted to analyze the clinical data of patients with de novo stage IV breast cancer in 33 centers from January 2017 to December 2018.The relationship between basic characteristic(age,menstrual status,family history,reproductive history,pathological type,estrogen receptor[ER]status,progesterone receptor[PR]status,human epidermal growth factor receptor 2[HER2]status,Ki-67 percentage,and molecular subtype),and metastasis sites(lung metastasis,liver metastasis,and bone metastasis)was examined by Pearson Chi-square tests.Results:A total of 468 patients with de novo stage IV breast cancer were enrolled.The median age of the enrolled patients was 51.5 years.The most common pathological type of primary lesion was invasive carcinoma(97.1%).Luminal A,luminal B,HER2 overexpressing,and triple-negative subtypes accounted for 14.3%,51.8%,22.1%,and 11.8% of all cases,respectively.Age,PR status,and HER2 status were correlated with lung metastasis(χ^(2)=6.576,4.117,and 8.643 and P=0.037,0.043,and 0.003,respectively).Pathological type,ER status,PR status,and molecular subtype were correlated with bone metastasis(χ^(2)=5.117,37.511,5.224,and 11.603 and P=0.024,<0.001,0.022,and 0.009,respectively).Age,PR status,HER2 status,Ki-67 percentage,and molecular subtype were correlated with liver metastasis(χ^(2)=11.153,13.378,10.692,21.206,and 17.684 and P=0.004,<0.001,0.001,<0.001,and 0.001,respectively).Combined treatment with paclitaxel and anthracycline was the most common first-line chemotherapy regimen for patients with de novo stage IV breast cancer(51.7%).Overall,91.5% of patients used paclitaxel-containing regimens.Moreover,59.3% of hormone receptor-positive patients underwent endocrine therapy.Conclusions:In 2018,1.07% of patients from all studied centers were diagnosed with de novo stage IV breast cancer.This study indicated that 95.1% of patients received systemic therapy and 54.2% of patients underwent surgical removal of the primary lesion in China. 展开更多
关键词 De novo stage IV breast cancer Metastatic site Systemic therapy Multicenter investigation Chinese Society of Breast Surgery
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Vagus Nerve Stimulation for Pediatric and Adult Patients with Pharmaco-resistant Epilepsy 被引量:13
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作者 Fan-Gang Meng Fu-Min Jia +9 位作者 Xiao-Hui Ren Yan Ge Kai-Liang Wang Yan-Shan Ma Ming Ge Kai zhang Wen-Han HU Xin zhang Wei Hu jian-guo zhang 《Chinese Medical Journal》 SCIE CAS CSCD 2015年第19期2599-2604,共6页
Background:Over past two decades,vagus nerve stimulation (VNS) has been widely used and reported to alleviate seizure frequency worldwide,however,so far,only hundreds of patients with pharmaco-resistant epilepsy (... Background:Over past two decades,vagus nerve stimulation (VNS) has been widely used and reported to alleviate seizure frequency worldwide,however,so far,only hundreds of patients with pharmaco-resistant epilepsy (PRE) have been treated with VNS in China's Mainland.The study aimed to evaluate the effectiveness of VNS for Chinese patients with PRE and compare its relationship with age cohort and gender.Methods:We retrospectively assessed the clinical outcome of 94 patients with PRE,who were treated with VNS at Beijing Fengtai Hospital and Beij ing Tiantan Hospital between November 2008 and April 2014 from our database of 106 consecutive patients.The clinical data analysis was retrospectively examined.Results:Seizure frequency significantly decreased with VNS therapy after intermittent stimulation of the vagus nerve.At last follow-up,we found McHugh classifications of Class Ⅰ in 33 patients (35.1%),Class Ⅱ in 27 patients (28.7%),Class Ⅲ in 20 patients (21.3%),Class Ⅳ in 3 patients (3.2%),and Class Ⅴ in 11 patients (l 1.7%).Notably,8 (8.5%) patients were seizure-free while ≥50% seizure frequency reduction occurred in as many as 60 patients (63.8%).Furthermore,with regard to the modified Engel classification,12 patients (12.8%) were classified as Class Ⅰ,l l patients (11.7%) were classified as Class Ⅱ,37 patients (39.4%) were classified as Class Ⅲ,34 patients (36.2%) were classified as Class Ⅳ.We also found that the factors of gender or age are not associated with clinical outcome.Conclusions:This comparative study confirmed that VNS is a safe,well-tolerated,and effective treatment for Chinese PRE patients.VNS reduced the seizure frequency regardless of age or gender of studied patients. 展开更多
关键词 Epilepsy Surgery Pharmaco-resistant Epilepsy Vagus Nerve Stimulation
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