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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

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Protecting miners from coal bursts during development above historic mine workings in Harlan County,KY

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International Journal of mining Science and Technology 2021年第1期31卷 111-116页

作者： christopher mark mine Safety and Health Administration PittsburghPA 15236USA

In order to reach a large,untapped reserve of high-quality coal,D8 Cloverlick mine proposed to mine a corridor nearly 600 m deep beneath the Benham Spur of Black mountain,Kentucky’s highest peak.D8 Cloverlick mine was extracting the Owl seam,but the corridor’s route lay approximately 20 m above century-old mine workings in the C–(Darby)*** to the concern,three serious coal bursts had recently occurred in nearby Owl seam *** of the old workings seemed to indicate that the underlying C–seam had been fully ***,two of the coal bursts had occurred above areas where the C–Seam was also shown as mined *** Safety and Health Administration(mSHA)Technical Support therefore investigated the records of past mining to better understand the old mine *** conditions observed in current Owl seam workings were also compared with the maps of the old C–seam *** study concluded that the presence of hazardous underlying remnants could not be ruled *** mitigate the burst risk,D8 Cloverlick mine adopted a strategy of stress probe drilling.A self-propelled coal drill was used to auger 11.5-m-long,small diameter holes in advance of *** each hole was drilled,the cuttings were measured to detect the presence of highly stressed *** the crossing was successfully completed without incident.

关键词： Coal bursts Underground mining Room-and-pillar Destressing

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Bubble Coalescence Heat Transfer During Subcooled Nucleate Pool Boiling

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工程热物理学报 2012年第12期33卷 2171-2175页

作者： Abdoulaye Coulibaly LIN Xipeng Bi Jingliang David m christopher Department of Thermal Engineering Tsinghua University

Bubble coalescence during subcooled nucleate pool boiling was investigated experimentally using constant wall temperature boundary conditions while the wall heat flux was measured at a various locations to understand the effects of coalescence on the heat *** observations showed that the coalesced bubble moved and oscillated on the heater surface with significant heat transfer variations prior to *** observations also showed coalescence with no increase in the heat transfer *** heat flux for boiling with coalescence fluctuated much more than for single bubble boiling due to the vaporization of the liquid layer trapped between the bubbles.

关键词： microheater pool boiling bubble coalescence bubble dynamics

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matrix interactions modulate neurotrophin-mediated neurite outgrowth and pathfinding

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Neural Regeneration Research 2015年第4期10卷 514-517页

作者： christopher m.madl Sarah C.Heilshorn Department of Bioengineering Stanford University Department of materials Science and Engineering Stanford University

Both matrix biochemistry and neurotrophic factors are known to modulate neurite outgrowth and pathifnding; however, the interplay between these two factors is less studied. While previous work has shown that the biochemical identity of the matrix can alter the outgrowth of neurites in response to neurotrophins, the importance of the concentration of cell-adhesive ligands is unknown. Using engineered elastin-like protein matrices, we recently demonstrated a synergistic effect between matrix-bound cell-adhesive ligand density and soluble nerve growth factor treat-ment on neurite outgrowth from dorsal root ganglia. This synergism was mediated by Schwann cell-neurite contact through L1CAm. Cell-adhesive ligand density was also shown to alter the pathifnding behavior of dorsal root ganglion neurites in response to a gradient of nerve growth factor. While more cell-adhesive matrices promoted neurite outgrowth, less cell-adhesive ma-trices promoted more faithful neurite pathifnding. These studies emphasize the importance of considering both matrix biochemistry and neurotrophic factors when designing biomaterials for peripheral nerve regeneration.

关键词： neurotrophic factors cell-adhesive ligands dorsal root ganglia L1CAm nerve growth factor biomaterials elastin-like proteins

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Vascular disease in the older adult

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Journal of Geriatric Cardiology 2016年第9期13卷 727-732页

作者： Andrew P miller christopher m Huff Gary S Roubin Cardio Vascular Associates Birmingham Alabama USA

1 Introduction Among older adults, incidence and prevalence of aortic disease, peripheral arterial disease （PAD）, and venous thromboembolism （VTE） increase as age-related alterations in vascular structure and function are compounded by longer exposure to cardiovascular disease （CVD） risk factors. This review highlights the unique presentations and treatment strategies for aortic dissection, abdominal aortic aneurysm （AAA）, PAD, and VTE in older adults.

关键词： Aortic diseases Cardiovascular disease Peripheral arterial disease The elderly

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melanization in living organisms: a perspective of species evolution

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Protein & Cell 2010年第9期1卷 830-841页

作者： christopher J Vavricka Bruce m.Christensen Jianyong Li CAS Key Laboratory of Pathogenic microbiology and Immunology Institute of MicrobiologyChinese Academy of Sciences(CASPMI)Beijing 100101China Department of Pathobiology University of Wisconsin-MadisonMadisonWI 53706USA Department of Biochemistry Virginia TechBlacksburgVA 24061USA

Eumelanin is a heteropolymer that is generally composed of hydroxylated indole residues and plays diverse protective functions in various *** is derived from the amino acid tyrosine and production of melanin is a highly complex oxidative process with a number of steps that can either proceed enzymatically or *** melanin plays important protective roles in many species,during melanization,particularly in steps that can proceed non-enzymatically,many toxic intermediates are produced,including semiquinones,dopaquinone,indole-quinones and moreover,the production of many reactive oxygen *** mitigate the production of reactive species,a number of proteins that regulate the biochemical process of melanization have evolved in various living species,which is closely related to adaptation and physiological *** this communication,we discuss differences between non-enzymatic and enzymatic processes of melanization and the enzymatic regulation of melanization in difference species with an emphasis on differences between mammals and *** between melanization and insect sclerotization is also emphasized which raises some interesting questions about the current models of these pathways.

关键词： melanization melanogenesis sclerotization tanning dopa tyrosinase dopachrome tautomerase

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Cronkhite-Canada Syndrome:an unusual finding of gastro-intestinal adenomatous polyps in a syndrome characterized by hamartomatous polyps

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Gastroenterology Report 2015年第3期3卷 254-257页

作者： christopher m.Flannery John A.Lunn Department of Gastroenterology Loma Linda University Medical CenterLoma LindaCAUSA Department of Gastroenterology Veterans Affairs Loma Linda Healthcare System Loma LindaCAUSA

Cronkhite-Canada syndrome is a rare,hamartomatous polyposis syndrome of unknown *** gastrointestinal polyps,alopecia,onychodystrophy,cutaneous hyperpigmentation,abdominal pain,diarrhea,and complications of weight loss are typical of the *** this report,we describe a pathological finding of colonic adenomatous polyposis as opposed to hamartomatous *** also describe our treatment,long-term therapeutic plan,and the need for further research.

关键词： Cronkhite-Canada syndrome gastro-intestinal adenomatous polyps hamartomatous polyps

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Influence of size effect and boundary conditions on temperature overshooting in nanoscale thermal conduction

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Chinese Science Bulletin 2014年第12期59卷 1334-1339页

作者： Xuefang Li mingtian Xu David m.christopher Key Laboratory for Thermal Science and Power Engineering of ministry of Education Tsinghua University Institute of Thermal Science and Technology Shandong University

The temperature overshooting phenomenon in one-dimensional nanoscale heat conduction in thin films is studied for various boundary *** results show that when ballistic heat transport strongly affects the heat transport process,temperature overshooting is more likely to occur.A sudden increase of temperature on only one surface of a thin film cannot trigger temperature overshooting,while symmetric boundary temperature perturbations lead to the largest temperature *** heat conduction is also studied in a nanoscale *** analytic results show that Fourier’s law may severely underestimate the temperatures in nanofilms as well as in nanoareas when temperature overshooting occurs.

关键词：边界温度过冲现象边界条件纳米级热传导尺寸效应纳米薄膜热传递过程

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Combined analysis of land cover change and NDVI trends in the Northern Eurasian grain belt

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Frontiers of Earth Science 2012年第2期6卷 177-187页

作者： christopher K. WRIGHT Kirsten m. de BEURS Geoffrey m. HENEBRY South Dakota State University Geographic Information Science Center of Excellence (GIScCE) Brookings South Dakota 57007 USA The University of Oklahoma Department of Geography and Environmental Sustainability Norman OK 73019 USA

We present an approach to regional environ- mental monitoring in the Northern Eurasian grain belt combining time series analysis of mODIS normalized difference vegetation index （NDVI） data over the period 2001-2008 and land cover change （LCC） analysis of the 2001 and 2008 mODIS Global Land Cover product （mCD 12Q 1）. NDVI trends were overwhelmingly negative across the grain belt with statistically significant （p ≤0.05） positive trends covering only 1% of the land surface. LCC was dominated by transitions between three classes; cropland, grassland, and a mixed cropland/natural vegeta- tion mosaic. Combining our analyses of NDVI trends and LCC, we found a pattern of agricultural abandonment （cropland to grassland） in the southern range of the grain belt coinciding with statistically significant （p≤0.05） negative NDVI trends and likely driven by regional drought. In the northern range of the grain belt we found an opposite tendency toward agricultural intensification; in this case, represented by LCC from cropland mosaic to pure cropland, and also associated with statistically significant （p≤0.05） negative NDVI trends. Relatively small clusters of statistically significant （p ≤ 0.05） positive NDVI trends corresponding with both localized land abandonment and localized agricultural intensification show that land use decision making is not uniform across the region. Land surface change in the Northern Eurasian grain belt is part of a larger pattern of land cover land use change （LCLUC） in Eastern Europe, Russia, and former territories of the Soviet Union following realignment of socialist land tenure and agricultural markets. Here, we show that a combined analysis of LCC and NDVI trends provides a more complete picture of the complex- ities of LCLUC in the Northern Eurasian grain belt,involving both broader climatic forcing, and narrower anthropogenic impacts, than might be obtained from either analysis alone.

关键词： land cover change mODIS NDVI NorthernEurasian grain belt Kazakhstan Russia time seriesanalysis Ukraine

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Automated Deep Learning Based Cardiovascular Disease Diagnosis Using ECG Signals

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Computer Systems Science & Engineering 2022年第7期42卷 183-199页

作者： S.Karthik m.Santhosh m.S.Kavitha A.christopher Paul Department of Computer Science&Engineering SNS College of TechnologyCoimbatore641035India Department of Information Technology Karpagam Institute of TechnologyCoimbatore641105India

Automated biomedical signal processing becomes an essential process to determine the indicators of diseased *** the same time,latest develop-ments of artiﬁcial intelligence(AI)techniques have the ability to manage and ana-lyzing massive amounts of biomedical datasets results in clinical decisions and real time *** can be employed for medical imaging;however,the 1D biomedical signal recognition process is still needing to be ***(ECG)is one of the widely used 1-dimensional biomedical sig-nals,which is used to diagnose cardiovascular *** assisted diag-nostic modelsﬁnd it difﬁcult to automatically classify the 1D ECG signals owing to time-varying dynamics and diverse proﬁles of ECG *** resolve these issues,this study designs automated deep learning based 1D biomedical ECG sig-nal recognition for cardiovascular disease diagnosis(DLECG-CVD)*** DLECG-CVD model involves different stages of operations such as pre-proces-sing,feature extraction,hyperparameter tuning,and classiﬁ*** the initial stage,data pre-processing takes place to convert the ECG report to valuable data and transform it into a compatible format for further *** addition,deep belief network(DBN)model is applied to derive a set of feature ***,improved swallow swarm optimization(ISSO)algorithm is used for the hyper-parameter tuning of the DBN ***,extreme gradient boosting(XGBoost)classiﬁer is employed to allocate proper class labels to the test ECG *** order to verify the improved diagnostic performance of the DLECG-CVD model,a set of simulations is carried out on the benchmark PTB-XL dataset.A detailed comparative study highlighted the betterment of the DLECG-CVD model interms of accuracy,sensitivity,speciﬁcity,kappa,mathew correlation coefﬁcient,and Hamming loss.

关键词： Biomedical signals 1-dimensional signal electrocardiogram artiﬁcial intelligence deep learning cardiovascular disease decision making

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