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预见性护理对介入治疗的主动脉夹层动脉瘤患者的影响分析
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作者 文良平 《中国科技期刊数据库 医药》 2024年第9期0191-0194,共4页
探讨预见性护理在主动脉夹层动脉瘤介入治疗患者中的应用价值。方法 对90例2022.10-2023.10期间我院收治介入治疗主动脉夹层动脉瘤进行调研,分组采用等量数字随机法,对照组/预见组各45例,行常规护理、预见性护理。统计术后7d生理应激指... 探讨预见性护理在主动脉夹层动脉瘤介入治疗患者中的应用价值。方法 对90例2022.10-2023.10期间我院收治介入治疗主动脉夹层动脉瘤进行调研,分组采用等量数字随机法,对照组/预见组各45例,行常规护理、预见性护理。统计术后7d生理应激指标、心理状态评分、不良事件、介入成功率。结果 预见组各项指标优于对照组,P<0.05。结论 预见性护理在介入治疗主动脉夹层动脉瘤患者中的应用,能够对生理应激指标进行调节,调节心理状态,有助于预防不良事件的发生,提升介入治疗成功率,值得普及。 展开更多
关键词 预见性护理 介入治疗 夹层动 脉瘤 生理应激指标 心理状态评分
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主动脉夹层动脉瘤(附8例报告)
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作者 张育君 李崇虹 《广东医学》 CAS CSCD 1990年第5期22-24,共3页
主动脉夹层动脉瘤是血液渗入主动脉壁并分开其中层形成夹层血肿,是内科急症之一。由于起病急、病情复杂,极易误诊为急性心肌梗塞(AMI)和急腹症,常因延误治疗造成死亡。作者近年收集、观察8例,现报告如下。临床资料8例中,男7例,女1例。
关键词 夹层动 脉瘤
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手术中急性动脉导管肺动夹层动脉瘤形成两例报告
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作者 周庆玲 陈忠堂 陈庆伟 《中华医学全科杂志》 2003年第4期5-5,共1页
关键词 手术中 急性脉导管肺夹层动脉瘤 诊断 处理 预防
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Experimental study of motion characteristics of rock slopes with weak intercalation under seismic excitation 被引量:8
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作者 CHEN Zhen-Lin HU Xiao XU Qiang 《Journal of Mountain Science》 SCIE CSCD 2016年第3期546-556,共11页
In order to investigate the effect of a weak intercalation on slope stability, a large-scale shaking table model test was conducted to study the dynamic response of rock slope models with weak intercalation.The dynami... In order to investigate the effect of a weak intercalation on slope stability, a large-scale shaking table model test was conducted to study the dynamic response of rock slope models with weak intercalation.The dynamic response of the prototype slopes were studied in laboratory with the consideration of law of similitude. The initiation failure was observed in the rock slope model with a counter-tilt thin-weak intercalation firstly, not in the slope model with a horizontal thin-weak intercalation. Furthermore, it was interesting that the fracture site is shifted from crest top to the slope surface near the weak intercalation, which is different with the location of failure position in a normal layered slope. We also discussed the effect of the dip angle and the thickness of weak intercalation on the failure mechanism and instability mode of the layered rock slope. From the experimental result, it was noted that the stability of the slope with a counter-tilt weak intercalation could be worse than that of the other slopes under seismic excitation. The findings showed the difference of failure in slopes with a horizontal and counter weak intercalation, and implicated the further evaluation of failure of layered slopes caused by seismic loads. 展开更多
关键词 Counter-tilt Rock slope Weak intercalation Dynamic response Failure mechanism
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Recurrent massive bleeding due to dissecting intramural hematoma of the esophagus: Treatment with therapeutic angiography 被引量:8
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作者 Jaejun Shim Jae Young Jang +6 位作者 Young Hwangbo Seok Ho Dong Joo Hyeong Oh Hyo Jong Kim Byung-Ho Kim Young Woon Chang Rin Chang 《World Journal of Gastroenterology》 SCIE CAS CSCD 2009年第41期5232-5235,共4页
Spontaneous or traumatic intramural bleeding of the esophagus, which is often associated with overlying mucosal dissection, constitutes a rare spectrum of esophageal injury called dissecting intramural hematoma of the... Spontaneous or traumatic intramural bleeding of the esophagus, which is often associated with overlying mucosal dissection, constitutes a rare spectrum of esophageal injury called dissecting intramural hematoma of the esophagus (DIHE). Chest pain, swallowing diffi culty, and minor hematemesis are common, which resolve spontaneously in most cases. This case report describes a patient with spontaneous DIHE with recurrent massive bleeding which required critical management and highlights a potential role for therapeutic angiography as an alternative to surgery. 展开更多
关键词 ESOPHAGUS Intramural hematoma Therapeutic angiography
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An extensive DeBakey type IIIb aortic dissection with massive right pleural effusion presenting as abdominal pain and acute anemia: particular case report 被引量:3
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作者 Hui-Chun YU Zhen-Qing WANG +6 位作者 Yuan-Yuan HAO Feng-Ping AN Yu-Chuan HU Rui-Bing DENG Peng YU Guang-Bin CUI He LI 《Journal of Geriatric Cardiology》 SCIE CAS CSCD 2015年第3期319-322,共4页
We describe the case of a 79-year-old male presented with sudden onset of abdominal pain and mild breathlessness, and complicated acute progressive anemia with haemoglobin which declined from 120 g/L to 70 g/L within ... We describe the case of a 79-year-old male presented with sudden onset of abdominal pain and mild breathlessness, and complicated acute progressive anemia with haemoglobin which declined from 120 g/L to 70 g/L within five days. An urgent computed tomography an- giography showed acute thoracic aortic dissection, DeBakey type IIIb, a dissecting aneurysm in the proximal descending thoracic aorta start- ing immediately after the origin of the left subclavian artery and extending distally below the renal arteries with evidence of rupture into the right pleural cavity for massive pleural effusion. Plasma D-dimer, brain natriuretic peptide and C reactive protein level were elevated. Our case showed that D-dimer can be used as a 'rule-out' test in patients with suspected aortic dissection. A raised BNP may exert a protective role through anti-inflammatory endothelial actions in the systemic circulation. 展开更多
关键词 Acute aortic dissection ANEMIA D-DIMER The elderly
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Endovascular stent-graft for type B aortic dissection in elderly patients 被引量:1
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作者 Quan-Min Jing Xiao-Zeng Wang +4 位作者 Long-Hui Di Geng Wang Bo Luan Zhi-Dan Gong Ya-Ling Han 《Journal of Geriatric Cardiology》 SCIE CAS CSCD 2009年第4期209-212,共4页
Objective To report the clinical outcome and complications ofendovascular stent-graft treatment for type B aortic dissection in elderly patients, as compared with younger patients in a single medical center. Methods F... Objective To report the clinical outcome and complications ofendovascular stent-graft treatment for type B aortic dissection in elderly patients, as compared with younger patients in a single medical center. Methods From May 2002 to July 2008, endovascular stent-graft implantation was performed in 124 patients with type B aortic dissection at the Department of Cardiology, Shenyang Northern Hospital. Among them, 39 patients were 60 yrs or older (ranging ~om 68 to 81 years) while 85 patients were younger than 60 years old (ranging from 31 to 58 years). Patients were followed up for a mean period of 26 months (ranging from 1 to 78 months). Clinical data were analyzed between the two groups. Results Comparing with the younger group, the elderly group had higher prevalence of coronary artery disease (59.0% vs 24.7%, P=0.001). There was no significant difference of complication rates between the 2 groups (38.5% vs 31.8%, P=0.54). Kaplan-Meier analysis showed a similar 5-year survival rate(80.2% vs 89.6%; Log Rank, P=0.31) between the 2 groups. Conclusions Endovascular stent-graft implantation is safe and effective in the treatment of type B aortic dissection for both elderly and younger patients. The procedure-related complication rate seems independent of age . 展开更多
关键词 DISSECTION endovascular repair ELDERLY COMPLICATIONS
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Incidence and in-hospital mortality of acute aortic dissection in China: analysis of China Health Insurance Research (CHIRA) Data 2011 被引量:52
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作者 Lei XIA Jing-Hu LI +1 位作者 Kun ZHAO Hai-Yun WU 《Journal of Geriatric Cardiology》 SCIE CAS CSCD 2015年第5期502-506,共5页
Objective Acute aortic dissection (AAD) is a catastrophic event with high early mortality rate, but to date, no data on the incidence of AAD in China's Mainland is available. This study aimed to estimate the inc... Objective Acute aortic dissection (AAD) is a catastrophic event with high early mortality rate, but to date, no data on the incidence of AAD in China's Mainland is available. This study aimed to estimate the incidence of AAD in China and characterize the clinical profile, management and in-hospital outcomes of this vascular event. Methods We used the China Health Insurance Research Data (the CHIRA Data) 2011 which comprises all inpatient hospital records (300,886) during the period of Jan. 1st 2011 to Dec. 31 2011 of 3,335,000 randomly sampled beneficiaries (1,718,500 men and 1,616,500 women) from 25 cities and counties in different economic-geographic regions of China's Mainland. Patients with acute aortic dissection were identified according to International Classification of Disease 10m Revision (ICD-10) of I71.0, The estimated incidence of AAD was calculated using the equation: estimated incidence = 2.0 × (40% × hospital admission rate) + 60% × hospital admission rate. Results The hospital admission rate was 2.0/100,000 (65/3,325,000, 95% CI: 1.2-2.8). The estimated annual incidence of AAD was 2.8/100,000 (95% CI: 1.9-3.6) and was higher in male than in female (3.7 vs. 1.5, P 〈 0.001). The mean age was 58.9 ± 13.4 years. During the mean hospital stay of 23 ±6 days, the overall in-hospital mortality was 13.9% (9/65). Conclusions Our study showed relatively lower but not negligible incidence and in-hospital mortality of AAD in the mainland of China. The mean age of patients with AAD in Chinese was younger than that reported by researches from west countries, while the male to female incidence ratio is similar to those reported by other studies. 展开更多
关键词 Acute aortic dissection China health insurance research Incidence rate
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Delayed asymptomatic progressive aortic dissecting aneurysm in patient with STEMI 被引量:1
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作者 Yun-Seok Song Sang-Hoon Seol +2 位作者 Dong-Kie Kim Ki-Hun Kim Doo-Il Kim 《Journal of Geriatric Cardiology》 SCIE CAS CSCD 2017年第6期425-426,共2页
An 80-year-old woman visited emergency room because of resting chest pain for one hour. She had history of hypertension for 10 years. The blood pressure was 80/50 mmHg and the pulse rate was 51 beats/min. The electroc... An 80-year-old woman visited emergency room because of resting chest pain for one hour. She had history of hypertension for 10 years. The blood pressure was 80/50 mmHg and the pulse rate was 51 beats/min. The electrocardiogram demonstrated Junctional bradycardia and ST elevation in lead Ⅱ, Ⅲ and aVF. Chest X-ray indicated cardiomegaly (Figure 1A). Coronary angiography revealed near total occlusion of proximal right coronary artery (RCA). She underwent percutaneous coronary intervention (PCI) for the RCA lesion successfully. Echocardiography showed hypokinesia of RCA territory (Figure 2A). 展开更多
关键词 DELAYED Dissecting aneurysm STEMI
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Clinical features of aortic dissection associated with Takayasu's arteritis 被引量:2
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作者 Xue-Ping WU Ping ZHU 《Journal of Geriatric Cardiology》 SCIE CAS CSCD 2017年第7期485-487,共3页
Takayasu's arteritis (TA) is a chronic and nonspecific in- flammatory vessel disease that involves the aorta and its major branches. TA results in stenosis, occlusion or aneu- rysmal degeneration of large arteries ... Takayasu's arteritis (TA) is a chronic and nonspecific in- flammatory vessel disease that involves the aorta and its major branches. TA results in stenosis, occlusion or aneu- rysmal degeneration of large arteries pathologically. Al- though TA is an unusual disease, it is more commonly ob- served to occur in Asian females compared to the general population worldwide. Aortic dissection is a very rare com- plication of TA, and only a limited number of TA cases presenting with aortic dissection have been published so far. 展开更多
关键词 Aortic dissection CT Takayasu's arteritis
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Experimental Vibration Analysis of a Cracked Laminated Glass Beam with Bolted Joint
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作者 Mehmet Yetmez Serhat Aktas Ismail Gundogdu Enes Gur Emre Karaul Yagizcan Ulusoy Hamza Erdogan 《Journal of Civil Engineering and Architecture》 2014年第11期1431-1437,共7页
In this study, in order to determine the very early load transfer behavior in the bolted joint connection, experimental dynamic analysis of different laminated glass beams including two surface cracks is considered. F... In this study, in order to determine the very early load transfer behavior in the bolted joint connection, experimental dynamic analysis of different laminated glass beams including two surface cracks is considered. For this purpose, both three different plastic interlayers (i.e., three types of polyvinyl butyral--PVB) and three different glass-lamina thicknesses are taken into account. Effects of the plastic interlayer, thickness of the glass-lamina, number of surface cracks and their locations on the vibration characteristics/structural performances are examined experimentally. Vibration tests are performed to present free vibration characteristics of the laminated glass beams under clamped-free boundary conditions. Experimental dynamic analysis consists of six parts: (I) vibration analysis with no-crack and no-hole with a bolted joint; (I1) vibration analysis with a surface crack and no-hole with a bolted joint; (III) vibration analysis with two surface cracks and no-hole with a bolted joint; (IV) vibration analysis with no-crack and a hole with a bolted joint; (V) vibration analysis with a surface crack and a hole with a bolted joint; (VI) vibration analysis with two surface cracks and a hole with a bolted joint. For these experimental steps, an impact hammer with a force transducer is used to excite the uncracked or cracked composite beams through the selected points. After the excitation, the responses are obtained by an accelerometer. The vibration measurements are completed using a microprocessor-based data acquisition system and nCode GlyphWorks software. Results are given in tabular and graphical forms. 展开更多
关键词 VIBRATION laminated glass beam PVB CRACK thickness effect.
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Numerical simulation of three interior double-layer bulkhead structures
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作者 许俊祥 《Journal of Measurement Science and Instrumentation》 CAS CSCD 2017年第2期195-198,共4页
When anti-ship missiles penetrate into the ship armor, fragments and shock waves caused by explosion will severely destroy the personnel and equipment on the ships. In this study, three double-layer bulkheads with dif... When anti-ship missiles penetrate into the ship armor, fragments and shock waves caused by explosion will severely destroy the personnel and equipment on the ships. In this study, three double-layer bulkheads with different interior sandwich structures were investigated, including X and hexagonal combined sandwich structure, cross-type honeycomb sandwich struc-ture and cell growth type honeycomb sandwich structure. The penetration processes of three different bulkhead structures were simulated by software ANSYS/LS-DYNA. The simulation shows that the double-layer bulkhead with cross-type honeycomb sandwich structure is the most suitable. Finally, the dynamic response characteristics of the cross-type sandwich bulkhead structure are analyzed. 展开更多
关键词 cross-type sandwich structure forging fragments dynamic response ship armor anti-ship missile
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Variation of cavity gas pressure in slopes with weak intercalation under seismic load
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作者 WANG Xiao-qun CHEN Zhen-lin +1 位作者 ZHOU Zhou SHEN Man 《Journal of Mountain Science》 SCIE CSCD 2016年第2期352-360,共9页
This study discussed how cavity gas pressure affects the stability of rock mass with fractures under well controlled laboratory experiments.Suddenly-created void space created and the induced gas pressures have been t... This study discussed how cavity gas pressure affects the stability of rock mass with fractures under well controlled laboratory experiments.Suddenly-created void space created and the induced gas pressures have been the focus of active researches because they are associated with fast movement of large-scale landslides.A shaking table experiment was set up to mimic weak-intercalated rock slope under seismic loads.Excessive cavity gas pressure would be produced in weak spots upon a sudden vibration load.The drastically elevated gas pressure is believed to be responsible for the creation of cavities surrounding the tension fracture.With dissipation of the excessive cavity gas pressure,the fractures are in unbounded closed-state.This observation explains that the slope body would be split and loosened under several aftershocks,and with the expanding of the cracks,the slope failure eventually occurred.The research of the mechanism of cavity gas pressure could provide a novel insight into the formation mechanism of landslides under seismic load and has implications for the disaster prevention and control theory for the slope stability evaluation. 展开更多
关键词 LANDSLIDE FRACTURE Deformation Weak intercalation Cavity gas pressure
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Induction of thoracic aortic dissection: a mini-review of β-aminopropionitrile-related mouse models 被引量:8
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作者 Hai-qiong ZHENG Jia-bing RONG +3 位作者 Fei-ming YE Yin-chuan XU Hong S.LU Jian-an WANG 《Journal of Zhejiang University-Science B(Biomedicine & Biotechnology)》 SCIE CAS CSCD 2020年第8期603-610,共8页
Thoracic aortic dissection(TAD)is one of the most lethal aortic diseases due to its acute onset,rapid progress,and high rate of aortic rupture.The pathogenesis of TAD is not completely understood.In this mini-review,w... Thoracic aortic dissection(TAD)is one of the most lethal aortic diseases due to its acute onset,rapid progress,and high rate of aortic rupture.The pathogenesis of TAD is not completely understood.In this mini-review,we introduce three emerging experimental mouse TAD models usingβ-aminopropionitrile(BAPN)alone,BAPN for a prolonged duration(four weeks)and then with added infusion of angiotensinⅡ(AngⅡ),or co-administration of BAPN and AngⅡchronically.We aim to provide insights into appropriate application of these three mouse models,thereby enhancing the understanding of the molecular mechanisms of TAD. 展开更多
关键词 Thoracic aortic dissection(TAD) β-Aminopropionitrile(BAPN) AngiotensinⅡ(AngⅡ) Mouse model HYPERTENSION
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Free vibration analysis of a pre-twisted sandwich blade with thermal barrier coatings layers 被引量:8
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作者 CAO DongXing LIU BingYi +1 位作者 YAO MingHui ZHANG Wei 《Science China(Technological Sciences)》 SCIE EI CAS CSCD 2017年第11期1747-1761,共15页
A rotating cantilever sandwich-plate model with a pre-twisted and pre-set angle has been developed to investigate the vibrational behavior of an aero-engine turbine blade with thermal barrier coating(TBC) layers. The ... A rotating cantilever sandwich-plate model with a pre-twisted and pre-set angle has been developed to investigate the vibrational behavior of an aero-engine turbine blade with thermal barrier coating(TBC) layers. The classic von Karman plate theory and the first-order shear deformation theory are applied to derive the energy equations of the rotating TBC blade, in which the geometric shapes, the work ambient temperature, and the TBC material properties are considered. The Chebyshev-Ritz method is used to obtain the nature frequency of the rotating TBC blade. For static frequency and modal analysis, the finite-element method(FEM)is also applied to compare and validate the results from the Chebyshev-Ritz method. A good agreement is found among these kinds of methods. For dynamic frequency, the results are analyzed in detail concerning the influence of system parameters such as the thickness of the TBC layer, the working temperature, and the pre-twisted and pre-set angle. Finally, the Campbell diagram is demonstrated to analyze the resonance property of the cantilever sandwich TBC blade model. 展开更多
关键词 thermal barrier coating blade sandwich plate frequency Chebyshev polynomials
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Thermodynamic analysis of a space station remote manipulator with a harmonic drive that considers an integrated thermal protection layer. 被引量:8
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作者 ZHAO JieLiang YAN ShaoZe +2 位作者 WU JiaNing MA Wei HAN ZengYao 《Science China(Technological Sciences)》 SCIE EI CAS CSCD 2015年第11期1884-1893,共10页
To eliminate anomalies and improve the performance of a space station remote manipulator(SSRM) used in a dynamically changeable thermal environment, we analyze the thermodynamic behavior of an SSRM that considers an i... To eliminate anomalies and improve the performance of a space station remote manipulator(SSRM) used in a dynamically changeable thermal environment, we analyze the thermodynamic behavior of an SSRM that considers an integrated thermal protection system(ITPS). Solar radiative heat gain and loss become equally significant as conductive heat transfers through the interior of the SSRM on orbit. A thermodynamic model of the SSRM with a sandwich ITPS structure is established on the coupling between harmonic drive and changeable thermal environment. A motion precision is proposed to evaluate thermodynamic behavior under continuously changeable thermal circumstances. Simulation results indicate that the ITPS with a corrugated sandwich structure reduces the maximum amplitude of angular position errors to 41.6%, which helps improve the motion precision of the SSRM. The feasible regions for the SSRM in the Low Earth Orbit(LEO) and Geostationary Earth Orbit(GEO) are analyzed, which shows that the proportion of feasible region in LEO is significantly larger than that in GEO. 展开更多
关键词 Space station remote manipulator integrated thermal protection system thermal analysis harmonic drive dynamic behavior
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Asymptomatic traumatic common carotid artery dissection
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作者 Feriyde Callskan Tur Ersin Aksay Ozge Duman Attila 《Chinese Journal of Traumatology》 CAS CSCD 2015年第1期44-45,共2页
Common carotid artery (CCA) dissection is a rare emergency condition. Early diagnosis of these cases is important to prevent the ischemic emergencies. We presented a CCA dissection case, who was admitted to the hosp... Common carotid artery (CCA) dissection is a rare emergency condition. Early diagnosis of these cases is important to prevent the ischemic emergencies. We presented a CCA dissection case, who was admitted to the hospital after taken out from under rubble with satisfactory outcome. 展开更多
关键词 Common carotid artery EMERGENCY OUTCOME
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Pentacene thin film transistor with low threshold voltage and high mobility by inserting a thin metal phthalocyanines interlayer 被引量:1
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作者 LI Yi LIU Qi +3 位作者 WANG XiZhang SEKITANI Tsuyoshi SOMEYA Takao HU Zheng 《Science China(Technological Sciences)》 SCIE EI CAS 2012年第2期417-420,共4页
We herein report the effective performance enhancement of the pentacene-based organic thin film transistors with silicon di- oxide dielectric by inserting a thin metal phthalocyanines interlayer between Au source/drai... We herein report the effective performance enhancement of the pentacene-based organic thin film transistors with silicon di- oxide dielectric by inserting a thin metal phthalocyanines interlayer between Au source/drain electrodes and the pentacene active layer. The threshold voltage decreased remarkably from ca. -20 V to a few volts (below -7.6 V) while the mobility in- creased 1.5-3 times after the insertion of the interlayer of only ca. 2 nm, which could be attributed to the reduction of the car- tier injection barrier. The results suggest a simple and effective way to achieve low-threshold-voltage pentacene-based organic thin film transistors with high mobility on silicon dioxide dielectric. 展开更多
关键词 low threshold voltage and high mobility pentacene-based organic thin film transistors metal phthalocyanines INTERLAYER
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Dynamic modeling and H_∞ independent modal space vibration control of laminate plates 被引量:1
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作者 RONG Bao RUI XiaoTing +1 位作者 WANG GuoPing YANG FuFeng 《Science China(Physics,Mechanics & Astronomy)》 SCIE EI CAS 2011年第9期1638-1650,共13页
In this paper, combining the transfer matrix method and the finite element method, the modified finite element transfer matrix method is presented for high efficient dynamic modeling of laminated plates. Then, by cons... In this paper, combining the transfer matrix method and the finite element method, the modified finite element transfer matrix method is presented for high efficient dynamic modeling of laminated plates. Then, by constructing the modal filter and the disturbance force observer, and using the feedback and feedforward approaches, the H ∞ independent modal space control strategy is designed for active vibration control of laminate plates subjected to arbitrary, immeasurable disturbance forces. Compared with ordinary dynamic modeling and control methods of laminated plate structures, the proposed method has the low memory requirement, high computational efficiency and robust control performance. Formulations as well as some numerical examples are given to validate the method and the control performance. 展开更多
关键词 transfer matrix method finite element laminated plate active vibration control H~ control
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Variants of genes encoding collagens and matrix metalloproteinase system increased the risk of aortic dissection 被引量:5
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作者 Zongzhe Li Chengming Zhou +8 位作者 Lun Tan Peng Chen Yanyan Cao Chenze Li Xianqing Li Jiangtao Yan Hesong Zeng Dao-Wu Wang Dao-Wen Wang 《Science China(Life Sciences)》 SCIE CAS CSCD 2017年第1期57-65,共9页
Aortic dissection (AD) is a devastating, heterogeneous condition of aorta. The homeostasis between collagens and matrix metalloproteases (MMPs)/tissue inhibitors of MMPs (TIMPs) system in the extracellular matri... Aortic dissection (AD) is a devastating, heterogeneous condition of aorta. The homeostasis between collagens and matrix metalloproteases (MMPs)/tissue inhibitors of MMPs (TIMPs) system in the extracellular matrix plays an important role for structure and functions of aorta. However, our knowledge on association between variants of genes in this system and pathogenesis of AD is very limited. We analyzed all yet known coding human genes of collagens (45 genes), MMPs/TIMPs (27 genes) in 702 sporadic AD patients and in 163 matched healthy controls, by using massively targeted next-generation and Sanger sequencing. To define the pathogenesis of potential disease-causing candidate genes, we performed transcriptome sequencing and pedigree co-segregation analysis in some genes and generated Col5a2 knockout rats. We identified 257 pathogenic or likely pathogenic variants which involved 88.89% (64/72) genes in collagens-MMPs/TIMPs system and accounted for 31.05% (218/702) sporadic AD patients. In them, 84.86% patients (185/218) carried one variant, 12.84% two variants and 2.30% more than two variants. Importantly, we identified 52 novel probablY pathogenic loss-of-function (LOF) variants (20 nonsense, 16 frameshift, 14 splice sites, one stop-loss, one initiation codon) in 11.06% (50/452) AD patients, which were absent in 163 controls (P=2.5-10-5). Transcriptome sequencing revealed that identified variants induced dyshomeostasis in expression of collagens-TIMPs/MMPs systems. The Col5a2-/- rats manifested growth retardation and aortic dysplasia. Our study provides a first comprehensive map of genetic alterations in collagens-MMPs/TIMPs system in sporadic AD patients and suggests that variants of these genes contribute largely to AD pathogenesis. 展开更多
关键词 aortic dissection COLLAGEN matrix metalloproteinase next-generation sequencing genetic diagnosis
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