检索结果-南通市图书馆

High Prevalence of Genetic Alterations in Infantile-Onset Cardiomyopathy

Congenital Heart Disease 2021年第4期16卷 397-410页

作者： Junsung Park Go Hun Seo Yena Lee Yunha Choi Minji Kang Hyo-Sang Do Young-Hwue Kim Jeong Jin Yu Ellen Ai-Rhan Kim Euiseok Jung Byong Sop Lee jae suk baek Beom Hee Lee Department of Pediatrics Asan Medical CenterUniversity of Ulsan College of MedicineSeoulKorea billion Inc.SeoulKorea Genome Research Center for Birth Defects and Genetic Diseases Asan Institute for Life SciencesAsan Medical CenterSeoulKorea Division of Cardiology Department of PediatricsAsan Medical CenterUniversity of Ulsan College of MedicineSeoulKorea Division of Neonatology Department of PediatricsAsan Medical CenterUniversity of Ulsan College of MedicineSeoulKorea Medical Genetics Center Asan Medical Center Children’s HospitalUniversity of Ulsan College of MedicineSeoulKorea

Background and Method:The genetic cause of infantile-onset cardiomyopathy is rarely ***,we conducted whole exome sequencing(WES)and mitochondrial DNA(mtDNA)sequencing in eight patients with infantile-onset cardiomyopathy to identify genetic ***:Among these patients,two(25%)had dilated cardiomyopathy(DCMP),two(25%)had left ventricular non-compaction(LVNC),and four(50%)had hypertrophic cardiomyopathy(HCMP).Except four patients identified prenatally,the remaining patients presented at a median age of 85.5 *** identified genetic variants in a total of seven(87.5%)patients and mtDNA sequencing in the other ***1 and MYH7 variants were identified in the two patients with DCMP;MYH11 and MYLK2 variants in the two patients with LVNC;HRAS,BRAF,and MYH7 variants in three patients with HCMP;and MT-ND1 variant in one patient with HCMP having high blood lactic acid *** the eight variants,four were classified as pathogenic or likely-pathogenic according to the American College of Medical Genetics(ACMG)guidelines,and the remaining were identified as variants of unknown significance(VUSs).Three pathogenic mutations were de novo,whereas four(likely-pathogenic or VUSs)were inherited from a respective parent,excluding one variant where parental testing was unavailable,questioning whether these inherited variants are *** patients died before 3 months of ***:Genomic studies,such as WES with additional mtDNA sequencing,can identify a genetic variant in high proportions of patients with infantile-onset *** clinical implication of the parentally inherited variant needs to be assessed in a larger patient and family cohort with a longitudinal follow-up.

关键词： Cardiomyopathy whole exome sequencing infantile-onset

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Factors Affecting the Genetic Diagnostic Rate in Congenital Heart Disease

引用

Congenital Heart Disease 2022年第6期17卷 653-673页

作者： Jun Sung Park Go Hun Seo Yunha Choi Soojin Hwang Minji Kang Hyo-Sang Do Young-Hwue Kim Jeong Jin Yu Ellen Ai-Rhan Kim Euiseok Jung Byong Sop Lee jae suk baek Beom Hee Lee Department of Pediatrics Asan Medical CenterUniversity of Ulsan College of MedicineSeoulKorea 3 Billion Inc.SeoulKorea Genome Research Center for Birth Defects and Genetic Diseases Asan Institute for Life SciencesAsan Medical CenterSeoulKorea Division of Cardiology Department of PediatricsAsan Medical CenterUniversity of Ulsan College of MedicineSeoulKorea Division of Neonatology Department of PediatricsAsan Medical CenterUniversity of Ulsan College of MedicineSeoulKorea Medical Genetics Center Asan Medical Center Children’s HospitalUniversity of Ulsan College of MedicineSeoulKorea

Background: Over 400 genes contribute to the development of congenital heart disease (CHD). Additionally,multisystemic manifestations accompanying syndromic CHD pose a higher risk of genetic diseases. This studyinvestigated the diagnostic yield of whole-exome sequencing (WES) in patients with sporadic syndromic CHDand the phenotypic factors affecting the genetic diagnostic rate. Methods: Sixty-four patients with sporadic syndromicCHD aged 0.05), betweenthe groups with and without a diagnostic variant. However, patients with ≥3 extracardiac phenotypes had a significantlyhigher likelihood of having a diagnostic variant than those with ≤2 (38.3% vs. 5.9%, odds ratio = 9.93,95% confidence interval = 1.21–81.44, P = 0.013). Conclusions: The number of extracardiac phenotypes is importantin predicting the possibility of genetic diagnosis. Physicians will be able to select patients with a high probabilityof genetic diagnosis and provide appropriate genetic counseling based on the results of this study.

关键词： Heart defects congenital whole-exome sequencing genetic testing phenotype

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Regulation of sleep by astrocytes in the hypothalamic ventrolateral preoptic nucleus

引用

Neural Regeneration Research 2025年第4期20卷 1098-1100页

作者： jae-Hong Kim Ruqayya Afridi Il-Sung Jang Maan Gee Lee Kyoungho suk Brain Korea 21 four KNU Convergence Educational Program of Biomedical Sciences for Creative Future Talents School of MedicineKyungpook National UniversityDaeguRepublic of Korea Department of Pharmacology School of MedicineKyungpook National UniversityDaeguRepublic of Korea Department of Pharmacology School of DentistryKyungpook National UniversityDaeguRepublic of Korea Brain Science&Engineering Institute Kyungpook National UniversityDaeguRepublic of Korea

Astrocytes are functionally dynamic cells that support neurons in multiple ways throughout an organism’s *** astrocytic regulation of neuronal activity has been increasingly recognized in recent *** are now recognized as playing a more complex role than mere bystanders in the central nervous ***,their role in regulating the sleep neurocircuitry is not well *** this perspective,we highlight the role of astrocytes in sleep modulation,with a particular focus on regulatory mechanisms related to the ventrolateral preoptic nucleus(VLPO)of the *** briefly discuss recent literature reporting the role of VLPO astrocytes in regulating sleep-associated behaviors.

关键词： sleep ventrolateral astrocytes

来源：

维普期刊数据库

同方期刊数据库评论

在线全文

学校读者我要写书评

暂无评论

Grade-4 commercially pure titanium with ultrahigh strength achieved by twinning-induced grain refinement through cryogenic deformation

引用

Journal of Materials Science & Technology 2021年第7期66卷 193-201页

作者： Seong-Woo Choi jae sukjeong Jong Woo Won jae Keun Hong Yoon suk Choi Titanium Department.Korea Institute of Materials Science Changwon51508Republic of Korea School of Materials Science and Engineering Pusan National UniversityPusan.46241Republic of Korea Materials and Manufacturing Development Team Doosan Heavy Industries and ConstructionChangwon51711Republic of Korea

The yield strength of commercially pure(CP) Ti of ASTM grade 4, the strongest among all the CP-Ti grades, is too low for structural applications that require high-strength materials. Here, we demonstrate the strengthening of grade-4 CP Ti by cryogenic-temperature rolling(CTR), which enables deformation twinning in grade-4 CP Ti to achieve twinning-induced grain refinement. CTR activated {11.22} twinning and {10.12} twinning, which are the most common twinning systems in pure Ti, whereas room-temperature rolling(RTR) did not activate any twinning system. CTR with imposing an area reduction of just 30% significantly increased the yield strength of the CP Ti to 946 MPa, which is not achievable through typical processes performed at or above room temperature and is comparable to that of commercial Ti-6 Al-4 V. The significant increase in strength was due to microstructural strengthening caused by twinning-induced grain refinement, combined with dislocation accumulation. In contrast to RTR, CTR greatly increased the stress concentration at grain boundaries(GBs), which caused the unusual activation of twinning in the grade-4 CP Ti by facilitating twin nucleation at GBs. The stress concentration increased because CTR activated the slip to a lesser extent compared to RTR, thereby reducing the strain compatibility between neighboring grains. These results will contribute to development of ultrahigh-strength CP Ti and may thereby extend its use to structural applications that require high-strength materials.

关键词： Titanium Twinning Cryogenic deformation Grain refinement Tensile properties

来源：

维普期刊数据库

同方期刊数据库评论

在线全文

学校读者我要写书评

暂无评论

Effect of Ni Contents on the Microstructure and Mechanical Properties of Martensitic Stainless Steel Guide Roll by Centrifugal Casting

引用

Journal of Materials Science & Technology 2008年第3期24卷 343-346页

作者： Villando Thursdiyanto Eun-jae Bae Eung-Ryul baek School of Materials Science and Engineering Yeungnam University

A novel process based on centrifugal casting was developed to produce martensitic stainless steel for guideroll materials. Centrifugal casting provides a lower production cost and less of the thermal cracking defects which normally occur in the overlaid welding process. In this study, the effects of Ni on the microstructure and mechanical properties of martensitic stainless steel were investigated. The results show that the addition of Ni resulted in a decrease in the volume fraction of delta ferrite and an increase in the volume fraction of the retained austenite, respectively. Moreover, a tensile strength of 1600 MPa with an elongation of 4% were obtained after tempering at 500℃ for 2 h. These values were higher than those obtained by using the conventional overlaid process.

关键词： Centrifugal casting Martensitic stainless steel Delta ferrite Mechanical properties

来源：

维普期刊数据库

同方期刊数据库评论

在线全文

学校读者我要写书评

暂无评论

Improvement of uniformity in cultivation environment and crop growth rate by hybrid control of air flow devices

引用

Journal of Central South University 2015年第12期22卷 4702-4708页

作者： baek Min-Seon KWON Sook-Youn LIM jae-Hyun Department of Computer Science and Engineering Kongju National University Green Energy Technology Research Center Kongju National University

A complete control type plant factory has high efficiency in terms of cultivation area by constructing vertical multiple layered cultivation ***,it has a problem of irregular crop growth due to temperature deviation at upper and lower beds and increases in energy consumption by a prolonged cultivation *** this work,air flow rate inside a facility was improved by a hybrid control of air flow devices like air conditioning and air circulation fan with an established wireless sensor network to minimize temperature deviations between upper and lower beds and to promote crop *** performance of proposed system was verified with an experimental environment or Case A wherein air conditioning device was operated without a control algorithm and Case B wherein air conditioning and circulation fans were alternatively operated based on the hybrid control *** planting leafy vegetables under each experimental condition,crops were cultivated for 21 *** a result,Case B wherein AC(air conditioning) and ACF(air-circulation fan) were alternatively operated based on the hybrid control algorithm showed that fresh mass,number of leaves,and leaf length for the crops grown were increased by 40.6%,41.1%,and 11.1%,respectively,compared to Case A.

关键词： air flow devices hybrid control cultivation environment uniformity growth rate

来源：

维普期刊数据库

同方期刊数据库评论

在线全文

学校读者我要写书评

暂无评论

Microstructure comparison of ZK60 alloy under casting,twin roll casting and hot compression

引用

Transactions of Nonferrous Metals Society of China 2010年第5期20卷 763-768页

作者：王守仁王敏 KANG suk-bong CHO jae-hyung School of Mechanical Engineering University of Ji'nan School of Materials Science and Engineering Shandong University Korea Institute of Materials Science 66 Sangnam-dongChangwon 641010Korea

The microstructures of ZK60 alloy under conventional direct as-casting (DC),twin roll casting (TRC) and twin roll casting followed by hot compression (TRC-HC) were analyzed by optical morphology (OM),electron backscatter diffraction (EBSD) and X-ray diffraction (XRD).The deformation condition of hot compression is 350 ℃,0.1 s?*** microstructural evolution under TRC-HC deformation followed by annealing at different temperatures and time was *** results show that TRC provides more modified microstructure compared with *** are found in TRC processing;dynamic recrystallization (DRX),shear bands and twins are found in TRC-HC.A short annealing time has little effect on hardness,while during a long time annealing,it is found that low annealing temperatures increase the micro-hardness and high temperature decreases it.

关键词： microstructural evolution anneal dynamic recrystallization static recrystallization twin-roll casting hot compression magnesium alloy ZK60

来源：

维普期刊数据库

同方期刊数据库评论

在线全文

学校读者我要写书评

暂无评论

Map-based control method for vehicle stability enhancement

引用

Journal of Central South University 2015年第1期22卷 114-120页

作者： Moon-Young Yoon Seung-Hwan baek Kwang-suk Boo Heung-Seob Kim Graduate school of Mechanical Engineering Inje University 607 High Safety Vehicle Core Technology Research Center Inje University 607

This work proposes a map-based control method to improve a vehicle's lateral stability, and the performance of the proposed method is compared with that of the conventional model-referenced control method. Model-referenced control uses the sliding mode method to determine the compensated yaw moment; in contrast, the proposed map-based control uses the compensated yaw moment map acquired by vehicle stability analysis. The vehicle stability region is calculated by a topological method based on the trajectory reversal method. A 2-DOF vehicle model and Pacejka's tire model are used to evaluate the proposed map-based control method. The properties of model-referenced control and map-based control are compared under various road conditions and driving inputs. Model-referenced control uses a control input to satisfy the linear reference model, and it generates unnecessary tire lateral forces that may lead to worse performance than an uncontrolled vehicle with step steering input on a road with a low friction coefficient. However, map-based control determines a compensated yaw moment to maintain the vehicle within the stability region,so the typical responses of vehicle enable to converge rapidly. The simulation results with sine and step steering show that map-based control provides better the tracking responsibility and control performance than model-referenced control.

关键词： model-referenced control map-based control vehicle stability yaw moment

来源：

维普期刊数据库

同方期刊数据库评论

在线全文

学校读者我要写书评

暂无评论

Synthesis of a Rod-rod Diblock Copolymer, Poly (3-hexylthiophene)-block-poly(furfuryl isocyanate), through the Anionic Polymerization with an Oxyanionic Macroinitiator

引用

Chinese Journal of Polymer Science 2019年第9期37卷 866-874页

作者： Chang-Geun Chae Joonkeun Min In-Gyu Bak jae-suk Lee School of Materials Science and Engineering Gwangju Institute of Science and Technology (GIST)

A rod-rod diblock copolymer (diBCP), poly(3-hexylthiophene)-block-poly(furfuryl isocyanate)(P3HT-b-PFIC), was synthesized through the anionic polymerization with an oxyanionic macroinitiator of P3HT. The properties of the diBCP (molecular weight, dispersity, composition, thermal stability, UV-visible absorption, and thin film morphology) were determined by various analytical methods. P3HT-b-PFIC was blended with C60 in a toluene solution to prepare a thin film of binary electron donor/acceptor system. Such blending enabled partial conjugation of the two components by the Diels-Alder reaction between furan and C60 at 60℃ for 3 h;the mixture was then spin-cast as a thin film, and annealed at 250℃ for 24 h. Tapping-mode atomic force microscopy (AFM) revealed that P3HT and C60 domains had nanoscale interfaces without a large phase segregation. This result indicated that the microphase separation of C60-functionalized P3HT-b-PFIC preserved even at high temperature provided free C60 molecules with channels to diffuse on the sides of P3HT domain, thus preventing the macroscopic crystallization of free C60 through the interfacial stabilization.

关键词： Rod-rod diblock copolymer Poly(3-hexylthiophene)-block-poly(furfuryl isocyanate) C60 Diels-Alder reaction Nanoscale interfaces

来源：

维普期刊数据库

同方期刊数据库评论

在线全文

学校读者我要写书评

暂无评论

Modeling and Hardware-in-the-Loop System Realization of Electric Machine Drives-A Review

引用

CES Transactions on Electrical Machines and Systems 2021年第3期5卷 194-201页

作者： jae suk Lee Gilsu Choi the Jeonbuk National University JeonjuJeonbukKorea Inha University IncheonKorea

This paper presents a state-of-the-art review in modeling approach of hardware in the loop simulation(HILS)realization of electric machine drives using commercial real time *** implementation using digital signal processors(DSPs)and field programmable gate array(FPGA)for electric machine drives has been investigated but those methods have drawbacks such as complexity in development and *** various HILS implementation approaches,more efficient development and verification for electric machine drives can be achieved through use of commercial real time *** well as implementation of the HILS,accurate modeling of a control target system plays an important ***,modeling trend in electric machine drives for HILS implementation is needed to be *** paper provides a background of HILS and commercially available real time machines and characteristics of each real time machine are ***,recent trends and progress of permanent magnet synchronous machines(PMSMs)modeling are presented for providing more accurate HILS implementation approaches in this paper.

关键词： Hardware-in-the-loop machine modeling permanent magnet synchronous machine(PMSM) model based design

来源：

维普期刊数据库

同方期刊数据库评论

在线全文

学校读者我要写书评

暂无评论

欢迎您,

建议与咨询留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

时间限定

文献类型

馆藏选择

核心期刊

语言

文献类型

帮助

文字说明：

检索规则说明：

检索范例：

分类表

所选分类

限定检索结果

文献类型

馆藏范围

日期分布

学科分类号

主题

机构

作者

语言

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

请选择保存的检索档案：

请选择收藏分类：

通借通还

欢迎您,

建议与咨询 留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

时间限定

文献类型

馆藏选择

核心期刊

语言

文献类型

帮助

文字说明：

检索规则说明：

检索范例：

分类表

所选分类

限定检索结果

文献类型

馆藏范围

日期分布

学科分类号

主题

机构

作者

语言

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

请选择保存的检索档案： 新增检索档案 确定 取消

请选择收藏分类： 新增自定义分类 确定 取消

通借通还

建议与咨询留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

请选择保存的检索档案：

请选择收藏分类：