检索结果-南通市图书馆

Quantifying Kinematic Tremor in an NGLY1-Deficient Individual: A Case Study

Case Reports in Clinical Medicine 2024年第1期13卷 25-36页

作者： Brock Futrell Christopher Alexander Malaya Dacia Martinez Diaz Christian Alfaro Hannah Elizabeth Gustafson Subhalakshmi Chandrasekaran Rhea Mohan Phatak bernhard Suter Charles Shannon Layne Department of Health and Human Performance University of Houston Houston USA Center for Neuromotor and Biomechanics Research University of Houston Houston USA Department of Computer Science and Engineering Texas A&M University College Station USA Blue Bird Circle Rett Center Texas Children’s Hospital Houston USA Baylor College of Medicine Houston USA Center for NeuroEngineering and Cognitive Science University of Houston Houston USA

NGLY1 Deficiency is an autosomal recessive congenital disorder that has been identified in less than 100 individuals. Most individuals with NGLY1 Deficiency display hyperkinetic movement disorders, including choreiform, athetoid, dystonic myoclonic, dyskinetic, and dysmetric movements. Developing a consistent and concise consensus on the classification and evaluation of tremors is essential to forward the research and treatment of tremors. It has also been reported that some individuals with NGLY1 Deficiency demonstrate tremor, but such tremor has never been formally investigated. The primary objective of this study is to determine if an individual with NGLY1 Deficiency demonstrates an identifiable tremor during a series of arm movements and, if so, describe the frequency and power characteristics of that tremor. Arm movement kinematics were obtained using a 16-camera Vicon system, and time series trajectory waveforms for three planes of a marker placed on the hand were developed. Custom MATLAB scripts were utilized to compute Fast Fourier Transformations of the data within the identified waveform segments. A mean frequency of 2.30 Hz (SD = 1.05) with a mean power of 5.02 |P1(f)| (SD = 4.63) suggests that our participant’s kinematic data did display a persistent tremor in both hands across all tasks and movement planes. Analyses of the reaching hand and the non-reaching hand suggest the participant displayed an action tremor in both postural and intention (kinetic) tremors. Future directions should include assessing additional individuals with NGLY1 Deficiency to determine if the tremor is a distinguishable disorder behavior. Additionally, evaluating other anatomical sites, such as the elbow, head, and lower limbs, would provide further insights into the characteristics of this tremor.

关键词： Tremor NGLY Fast Fourier Transformation Reaching Hyperkinetic Movement

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

3-Dimensional Kinematic Comparison of Arm Movements between an Individual with NGLY1 Deficiency and a Neurotypical Individual

引用

Case Reports in Clinical Medicine 2024年第4期13卷 122-146页

作者： Charles S. Layne Christopher A. Malaya Brock Futrell Dacia Martinez Diaz Christian Alfaro Hannah E. Gustafson Subhalakshmi Chandrasekaran Rhea M. Phatak bernhard Suter Department of Health and Human Performance University of Houston Houston TX USA Center for Neuromotor and Biomechanics Research University of Houston Houston TX USA Center for Neuro Engineering and Cognitive Science University of Houston Houston TX USA Department of Computer Science and Engineering Texas A&M University College Station TX USA Blue Bird Circle Rett Center Texas Children&#8217s Hospital Houston TX USA Baylor College of Medicine Houston TX USA

NGLY1 Deficiency is an ultra-rare autosomal recessively inherited disorder. Characteristic symptoms include among others, developmental delays, movement disorders, liver function abnormalities, seizures, and problems with tear formation. Movements are hyperkinetic and may include dysmetric, choreo-athetoid, myoclonic and dystonic movement elements. To date, there have been no quantitative reports describing arm movements of individuals with NGLY1 Deficiency. This report provides quantitative information about a series of arm movements performed by an individual with NGLY1 Deficiency and an aged-matched neurotypical participant. Three categories of arm movements were tested: 1) open ended reaches without specific end point targets;2) goal-directed reaches that included grasping an object;3) picking up small objects from a table placed in front of the participants. Arm movement kinematics were obtained with a camera-based motion analysis system and “initiation” and “maintenance” phases were identified for each movement. The combination of the two phases was labeled as a “complete” movement. Three-dimensional analysis techniques were used to quantify the movements and included hand trajectory pathlength, joint motion area, as well as hand trajectory and joint jerk cost. These techniques were required to fully characterize the movements because the NGLY1 individual was unable to perform movements only in the primary plane of progression instead producing motion across all three planes of movement. The individual with NGLY1 Deficiency was unable to pick up objects from a table or effectively complete movements requiring crossing the midline. The successfully completed movements were analyzed using the above techniques and the results of the two participants were compared statistically. Almost all comparisons revealed significant differences between the two participants, with a notable exception of the 3D initiation area as a percentage of the complete movement. The stati

关键词： NGLY1 Deficiency Developmental Disorders Kinematics 3 Dimensional Analyses

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

Fertility and sexual life of men after their forties and in older age

引用

Asian Journal of Andrology 2001年第1期3卷 1-7页

作者： Wolf-bernhard Schill Department of Dermatoloyg and Andrology Hessian Center of Reprocuctive Medicine Justus Liebig University Giessen Germany

Owing to the demographic development, the aging male will require more consideration in future. In contrast to arapid decline of estradiol during menopause in women, the process of aging in the male is retarded and subject to highindividual variations. Impairment of spermatogenesis is observed as a continuous process occurring over decades. How-ever, only about 50% of men in their eighties show complete loss of fertility. In principle, spermatogenesis may be re-tained well into senescence. Of importance for the individual health condition is the fact that the number of Leydig cellsdeclines with advancing age. Thus, altered sex hormone concentrations in aging men result from both functional distur-bances and a gradual reduction in Leydig cells. Furthermore, an impaired feed-back mechanism of the pituitary-gonadalaxis occurs, with disappearance of the circadian testosterone (T) rhythm. LH and FSH levels are increased, and a re-duced bioavailability of sex hormones is observed. Lower total testosterone concentrations in men over 60 years are ac-companied by clinical signs of reduced virility, such as decreased muscle mass and strength as well as reduced sexualhair growth and libido. An age-related decline in androgen secretion and plasma testosterone levels therefore suggeststhe use of androgen supplementation. However, there is a lack of risk-benefit long-term studies. Increased research inthe male is mandatory to meet the requirements of the aging population. This should include the availability of preciseepidemiological data about the frequency of partial androgen deficiency in aging males (PADAM).(Asian J Androl 2001 Mar; 3: 1-7)

关键词： aging spermatogenesis androgens testosterone supplementation

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

Discussion of sources of error in laser-speckle based systems

引用

Chinese Optics Letters 2011年第7期9卷 41-44页

作者： bernhard G.Zogar Institute for Measurement Technology Johannes Kepler University Altenbergerstraβe 69 4040 Linz Austria

Applying laser-speckle techniques in material sciences as well as in methods to characterize surface con- ditions of specimen has become the method of choice, especially if a non-contacting principle is sought. This is almost always the case for specimen that are small in at least one dimension as for example in the materiM testing of foils, fibres, or micromaterials and certainly also if elevated test-temperatures are preventing standard gauges. This letter discusses in some detail sources of error that are quite often over- looked or not even considered as significant at all, but still carry the potential to introduce uncertainties well above the system design specifications.

关键词： Discussion of sources of error in laser-speckle based systems

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

Continuous Casting of Demanding HSLA Steel Grades for Heavy Plate Application

引用

Journal of Iron and Steel Research International 2011年第S1期18卷 535-540页

作者： bernhard Hoh Process Technology Steel Eichenweg 2546569 HuenxeGermany

Continuous casting has evolved as the most important production process in the steel *** it counts for about 95% of the world’s steel *** to its rising significance,the process technologies have been enhanced in yield,productivity and-in particular quality of semi-finished products has been improved close to the realm of *** optimizing the product quality beyond the present status has to put the whole manufacturing route from hot metal and/or steel melting through refining to continuous casting under integrated *** for the production of HSLA steel grades of the highest standard are clean steel,internal soundness and defect-free slab *** this context a brief look is cast on the recent trend of process technology in casting "thick slabs" for extra-heavy plate production.

关键词： HSLA steel integrated process control clean steel heavy slab surface cracking segregation heavy plate

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

Usage Scenarios for Byte-Addressable Persistent Memory inHigh-Performance and Data Intensive Computing

引用

Journal of Computer Science & Technology 2021年第1期36卷 110-122页

作者： Michèle Weiland bernhard Homölle EPCC The University of EdinburghEdinburgh EH89BTU.K. System Vertrieb Alexander GmbH Paderborn 33106Germany

Byte-addressable persistent memory(B-APM)presents a new opportunity to bridge the performance gap between main memory and *** this paper,we present the usage scenarios for this new technology,based on the capabilities of Intel’s *** outline some of the basic performance characteristics of DCPMM,and explain how it can be configured and used to address the needs of memory and I/O intensive applications in the HPC(high-performance computing)and data intensive *** decision trees are presented to advise on the configuration options for BAPM;their use is illustrated with two *** show that the flexibility of the technology has the potential to be truly disruptive,not only because of the performance improvements it can deliver,but also because it allows systems to cater for wider range of applications on homogeneous hardware.

关键词： byte-addressable data intensive memory intensive persistent

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

Remarks on the rank properties of formal CR maps Dedicated to Professor Sheng GONG on the occasion of his 75th birthday

引用

Science China Mathematics 2006年第11期49卷 1477-1490页

作者： LAMEL bernhard MIR Nordine Universitt Wien Fakultt für Mathematik Nordbergstrasse 15A-1090 Wiensterreich Université de Rouen Laboratoire de Mathématiques Rapha■l Salem UMR 6085 CNRSAvenue de I'UniversitéB.P. 1276801 Saint Etienne du RouvrayFrance

We prove several new transversality results for formal CR maps between formal real hypersurfaces in complex space. Both cases of finite and infinite type hypersurfaces are tackled in this note.

关键词： formal CR map, CR-transversality.

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

Harmonic Analysis for Real Spherical Spaces

引用

Acta Mathematica Sinica,English Series 2018年第3期34卷 341-370页

作者： bernhard KROTZ Henrik SCHLICHTKRULL Universitat Paderborn Institut fiir MathematikWarburger Strafle 10033098 PaderbornGermany University of Copenhagen Department of MathematicsUniversitetsparken 5DK-2100 Copenhagen ODenmark

We give an introduction to basic harmonic analysis and representation theory for homogeneous spaces Z = G/H attached to a real reductive Lie group G. A special emphasis is made to the case where Z is real spherical.

关键词： Real spherical spaces harmonic analysis homogeneous spaces representation theory

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

GUN4 Is Required for Posttranslational Control of Plant Tetrapyrrole Biosynthesis

引用

Molecular Plant 2009年第6期2卷 1198-1210页

作者： Enrico Peter bernhard Grimm Institute of Biology/Plant Physiology Humboldt University Philippstr. 13 Building 12 D 10115 Berlin Germany

In aerobic photosynthetic organisms, GUN4 binds the chlorophyll intermediates protoporphyrin and Mg protoporphyrin, stimulates Mg chelatase activity, and is implicated in plastidic retrograde signaling. GUN4 expression is most abundant in young and greening tissues and parallels the activity of 5-aminolevulinic acid （ALA） ALA and Mg porphyrin biosynthesis during photoperiodic growth. We explored function and mode of action of GUN4 using GUN4- deficient and overexpressing plants. GUN4 overexpression leads to a general activation of the enzymes of chlorophyll biosynthesis. During photoperiodic growth GUN4 deficiency prevents ALA synthesis and chlorophyll accumulation. All these metabolic changes do not correlate with altered gene expression or changes of protein abundance in tetrapyrrole biosynthesis. While ALA feeding fails to compensate GUN4 deficiency during light-dark growth, this approach results in chlorophyll accumulation under continuous dim light. A new model defines the involvement of GUN4 in posttranslational regulation of ALA and Mg porphyrin synthesis, to sustain chlorophyll synthesis, namely under varying environmental conditions.

关键词： Tetrapyrrole biosynthesis chlorophyll Mg porphyrin branch photo-oxidation chloroplasts

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

Understanding the Interactions between Climate Change,Landscape Evolution,Surface Processes and Tectonics in the Earth System:What Can the Studies of Chinese Deserts Contribute?

引用

Acta Geologica Sinica(English Edition) 2016年第4期90卷 1444-1454页

作者： YANG Xiaoping bernhard EITEL Key Laboratory of Cenozoic Geology and Environment Institute of Geology and GeophysicsChinese Academy of Sciences Geographisches Institut Universit?t Heidelberg

Due to large deserts on Earth surface a thorough understanding of climate change, landscape evolution and geomorphological processes having occurred in deserts is crucial for Earth System Science. The landscapes in deserts are, however, diverse and different over the globe with regard to their geomorphological nature, human activities and geological histories. In the last decades a great number of efforts have been put to the investigation of the initial timing of the occurrence of arid climate, e. g. in northwestern China. Silty sediments in the downwind directions have been used to deduce the histories of deserts. In general, there is a lack of knowledge about processes and landscapes in Chinese drylands between the initial Miocene silt sedimentation at desert margins and the late Quaternary multiple occurrences of wetter climate with assumed large lakes in many of the deserts in northern China. The geomorphological concept of three primary triggering factors, i.e., the sediment supply, sediment availability and transport capacity of wind, and additionally the underground geology need to be fully considered for a better understanding of the environmental histories of sand seas which should not be viewed as equivalent for deserts because sand seas cover between 〈 1% and ca. 45% of the desert areas in various continents dependent on a complex interaction between various processes of both exogenous and endogenous origins.

关键词： desert sand sea earth surface process global change Quaternary geology geomorphology

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：