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

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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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地表-地下过程耦合的数值水文模型综述

中国科学：地球科学 2024年第5期54卷 1484-1505页

作者：舒乐乐陈昊孟宪红常燕胡立堂王文科束龙仓俞烜 christopher DUFFY 姚莹莹郑东海中国科学院西北生态环境资源研究院冰冻圈科学与冻土工程重点实验室兰州730000 北京师范大学水科学研究院北京100875 长安大学水利与环境学院西安710054 河海大学水文水资源学院南京210098 中国科学院南京土壤研究所土壤与农业可持续发展国家重点实验室南京210008 Pennsylvania State University State CollegePA 16801USA 西安交通大学地球环境科学系西安710054 中国科学院青藏高原研究所北京100101

水文模型是利用数学公式对水文循环过程的描述,是理解自然界水的时空运动和分布规律的重要工具;它不仅可以利用观测数据来验证理论的可靠性与适宜性,还能预测水文变量未来趋势,实现理解自然与预测自然的目的.随着计算方法的快速发展、... 详细信息

水文模型是利用数学公式对水文循环过程的描述,是理解自然界水的时空运动和分布规律的重要工具;它不仅可以利用观测数据来验证理论的可靠性与适宜性,还能预测水文变量未来趋势,实现理解自然与预测自然的目的.随着计算方法的快速发展、观测与试验手段的持续更新,目前基于物理过程的地表-地下过程耦合的数值水文模型快速发展.这种模型以微观尺度的守恒原理和物理公式为基础,利用数值方法将地表和地下水流进行耦合计算,从而模拟流域尺度水文响应过程.由于其物理过程明确、时空分辨率高且利于学科耦合,数值水文模型已成为水文模型发展的前沿和主流方向之一.本文阐述了地表-地下过程耦合数值水文模型的理论基础,从模型框架、数值求解方法、空间表达和耦合算法等方面对比和分析了当前主流数值水文模型,同时与传统水文模型比较,厘清了数值水文模型的优劣势,探讨了未来数值水文模型发展的方向.

关键词：数值水文模型地表-地下过程耦合数值方法水文模型

Comment on: Effect of intubation in patients with functional epiphora after endoscopic dacryocystorhinostomy

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International Journal of Ophthalmology(English edition) 2024年第8期17卷 1576-1576页

作者： Mansooreh Jamshidian-Tehrani Hossein Ghahvehchian christopher J Compton Jeremy D Clark Nicole L West Mohsen Bahmani Kashkouli Department of Ophthalmology Eye Research CenterThe Five Senses Health InstituteRassoul Akram HospitalIran University of Medical SciencesTehran ***Iran Department of Ophthalmology and Visual Sciences University of Louisville School of MedicineLouisville 40202KentuckyUSA

Dear Editor,We read with interest the article by Han et al[1]in which they retrospectively assessed the effect of bicanalicular intubation for functional epiphora after a failed endoscopic dacryocystorhinostomy(DCR).They confirmed the post-DCR“functional obstruction”based on fluorescein dye disappearance(FDDT)and irrigation test[1].

关键词： intubation assessed endoscopic

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

An updated empirical model for ground control in *** coal mines

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International Journal of Mining Science and Technology 2021年第2期31卷 163-174页

作者： christopher Mark Mine Safety and Health Administration PittsburghPA 15217USA

Multiple seam interactions are a major source of ground instability in several *** methods are well suited for this problem,because while the mechanics multiple seam interactions are very complex and poorly understood,many mining case histories are available for *** study makes use of an updated database that includes 356 multiseam case histories,including 67 unsuccessful *** paper describes in detail the process used to design the study,collect the data,conduct the statistical analysis,and develop the quantitative *** model can be used for mine planning in multiple seam situations,and has been made available as a module within the Analysis of Coal Pillar Stability(ACPS)computer program.

关键词： Underground Coal Multiseam Ground control Pillar design Empirical

Acquisition of epithelial plasticity in human chronic liver disease

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四川生理科学杂志 2024年第5期46卷 1143-1143页

作者： christopher Gribben 不详

For many adult human organs,tissue regeneration during chronic disease remains a controversial *** processes are easily observed in animal models,and their underlying mechanisms are becoming well characterized1-4,but technical challenges and ethical aspects are limiting the validation of these results in *** decided to address this difficulty with respect to the *** organ displays the remarkable ability to regenerate after acute injury,although liver regeneration in the context of recurring injury remains to be fully *** we performed single-nucleus RNA sequencing(snRNA-seq)on 47 liver biopsies from patients with different stages of metabolic dysfunction-associated steatotic liver disease to establish a cellular map of the liver during disease *** then combined these single-cell-level data with advanced 3D imaging to reveal profound changes in the liver architecture.

关键词： organs becoming limiting

Landscape of global urban environmental resistome and its association with local socioeconomic and medical status

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Science China(Life Sciences) 2024年第6期67卷 1292-1301页

作者： Jun Wu Yige Hu Michael H Perlin David Danko Jun Lu Manuela Oliveira Johannes Werner Maria M Zambrano Maria A Sierra Olayinka O Osuolale Paweł Łabaj Nicolás Rascovan Nur Hazlin Hazrin-Chong Soojin Jang Haruo Suzuki Marina Nieto-Caballero Bharath Prithiviraj Patrick K H Lee Agnieszka Chmielarczyk Anna Różańska Yongxiang Zhao Lan Wang christopher E Mason Tieliu Shi Center for Bioinformatics and Computational Biology and the Institute of Biomedical SciencesSchool of Life SciencesEast China Normal UniversityShanghai 200241China Department of Biology Program on Disease EvolutionUniversity of LouisvilleLouisville 40292USA Weill Cornell Medicine New York 10065USA The Bin Talal Bin Abdulaziz Alsaud Institute for Computational Biomedicine New York 10065USA Department of Pulmonary Medicine Shanghai Chest HospitalShanghai Jiao Tong UniversityShanghai 200025China i3S-Instituto de Investiga玢o e Inova玢o em Saúde Universidade do PortoPorto 4050-290Portugal Ipatimup-Instituto de Patologia e Imunologia Molecular da Universidade do Porto Porto 4200-465Portugal Departamento de Biologia Faculdade de CiênciasUniversidade do PortoPorto 4050-290Portugal High Performance and Cloud Computing Group Zentrum für Datenverarbeitung(ZDV)Eberhard Karls University of TübingenW鋍hterstra遝7672074TübingenGermany Corporación Corpogen Research Center Bogotá110311Colombia Applied Environmental Metagenomics and Infectious Diseases Research(AEMIDR) Department of Biological SciencesElizade UniversityIlara-Mokin 340271Nigeria Maopolska Centre of Biotechnology Jagiellonian UniversityKraków 30-005Poland Aix-Marseille Université Mediterranean Institute of OceanologyUniversitéde ToulonCNRSIRDUM 110Marseille 83041France Department of Biological Sciences and Biotechnology Faculty of Science and TechnologyUniversiti Kebangsaan Malaysia43600 UKM BangiSelangor Institut Pasteur Korea Seoul 13488Republic of Korea Faculty of Environment and Information Studies Keio UniversityFujisawaKanagawa 252-0882Japan University of Colorado at Boulder CivilEnvironmental and Architectural DepartmentBoulder 80303USA Brooklyn College of the City University of New York Brooklyn 11210USA School of Energy and Environment City University of Hong KongHong Kong 999077China Department of Microbiology Faculty of MedicineJagiellonian UniversityKraków 30-005Poland Biological Targeting Diagnosis and The

Antimicrobial resistance(AMR)poses a critical threat to global health and development,with environmental factors—particularly in urban areas—contributing significantly to the spread of antibiotic resistance genes(ARGs).However,most research to date has been conducted at a local level,leaving significant gaps in our understanding of the global status of antibiotic resistance in urban *** address this issue,we thoroughly analyzed a total of 86,213 ARGs detected within 4,728 metagenome samples,which were collected by the Meta SUB International Consortium involving diverse urban environments in 60 cities of 27 countries,utilizing a deep-learning based *** findings demonstrated the strong geographical specificity of urban environmental resistome,and their correlation with various local socioeconomic and medical *** also identified distinctive evolutionary patterns of ARG-related biosynthetic gene clusters(BGCs)across different countries,and discovered that the urban environment represents a rich source of novel *** study provides a comprehensive overview of the global urban environmental resistome,and fills a significant gap in our knowledge of large-scale urban antibiotic resistome analysis.

关键词： urban environment metagenome antibiotic resistance resistance diversity biosynthetic gene clusters

Coal bursts that occur during development: A rock mechanics enigma

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International Journal of Mining Science and Technology 2018年第1期28卷 35-42页

作者： christopher Mark Safety and Health Administration Pittsburgh 15236USA

Coal bursts are typically associated with highly stressed *** bursts occur during retreat mining(longwall mining or pillar recovery) in highly stressed locations like the tailgate corner of the longwall *** are associated with multiple seam ***, a small but significant percentage of coal bursts have occurred during development or in outby locations unaffected by active *** development bursts have been relatively small, but some have been highly *** theory of coal bursts can be complete if it does not account for this type of *** paper focusses on the development mining coal burst experience in the US, putting it into the context of the entire US coal burst *** first documented development coal burst occurred almost exactly 100 years ago during slope drivage at the Sunnyside Mine in *** subsequently had a long history of bursts, mainly during retreat mining but also during *** Colorado mines have also experienced multiple development ***, but by no means all, of the development bursts in these western US coalfields have been associated with known *** the Central Appalachian coalfields, most development bursts have occurred in multiple seam *** some of these cases, however, there was no retreat mining in either *** paper closes with some lessons from this history, with implications for preventing such events in the future.

关键词： Coal Underground Ground control Bursts Multiple seam

Prehospital transdermal glyceryl trinitrate for ultra- acute ischaemic stroke: data from the RIGHT- 2 randomised sham- controlled ambulance trial

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Stroke & Vascular Neurology 2024年第1期9卷 38-49,I0035-I0046页

作者： Jason Philip Appleton Lisa J Woodhouse Craig S Anderson Sandeep Ankolekar Lesley Cala Mark Dixon Timothy J England Kailash Krishnan Grant Mair Keith W Muir John Potter christopher I Price Marc Randall Thompson G Robinson Christine Roffe Else C Sandset Jeffrey L Saver Angela Shone Aloysius Niroshan Siriwardena Joanna M Wardlaw Nikola Sprigg Philip M Bath Stroke University Hospitals Birmingham NHS Foundation TrustBirminghamUK Institute of Applied HealthResearch University of Birmingham College of Medical and Dental SciencesBirminghamUK Stroke Trials Unit Mental Health and Clinical NeurosciencesUniversity of NottinghamNottinghamUK Faculty of Medicine The George Institute for Global HealthSydneyNew South WalesAustralia The George Institute China at Peking University Health Science Center BeijingChina Neurology Royal Prince Alfred HospitalSydney Health PartnersSydneyNew South WalesAustralia Department of Neurology King's College Hospital NHS Foundation TrustLondonUK Faculty of Health and Medical Sciences University of Western AustraliaCrawleyWestern AustraliaAustralia East Midlands Ambulance Service NHS Trust NottinghamUK Stroke Queen's Medical CentreNottingham University Hospitals NHS TrustNottinghamUK Centre for Clinical Brain Sciences Dementia Research InstituteUniveristy of EdinburghEdinburghUK Institute of Neurology and Psychology University of GlasgowGlasgowUK Bob Champion Research and Education Building University of East AngliaNorwichUK Institute of Neuroscience Newcastle UniversityNewcastle upon TyneUK Department of Neurology Leeds Teaching Hospitals NHS TrustLeedsUK Department of Cardiovascular Sciences and NIHR Leicester Biomedical Research Centre University of LeicesterLeicesterUK Stroke Research in Stoke Institute for Science and Technology in MedicineKeele UniversityStoke-on TrentUK Department of Neurology Oslo University HospitalOsloNorway Research and Development Norwegian Air Ambulance FoundationOsloNorway Department of Neurology and Comprehensive Stroke Center David Geffen School of MedicineUCLALos AngelesCaliforniaUSA Research and Graduate Services University of NottinghamNottinghamUK Community and Health Research Unit University of LincolnLincolnUK

Background The effect of transdermal glyceryl trinitrate(GTN,a nitrovasodilator)on clinical outcome when administered before hospital admission in suspected stroke patients is ***,we assess the safety and efficacy of GTN in the prespecified subgroup of patients who had an ischaemic stroke within the Rapid Intervention with Glyceryl trinitrate in Hypertensive stroke Trial-2(RIGHT-2).Methods RIGHT-2 was an ambulance-based multicentre sham-controlled blinded-endpoint study with patients randomised within 4hours of *** primary outcome was a shift in scores on the modified Rankin scale(mRS)at day *** outcomes included death;a global analysis(Wei-Lachin test)containing Barthel Index,EuroQol-5D,mRS,telephone interview for cognitive status-modified and Zung depression scale;and neuroimaging-determined‘brain frailty’*** were reported as n(%),mean(SD),median[IQR],adjusted common OR(acOR),mean difference or Mann-Whitney difference(MWD)with 95%*** 597 of 1149(52%)patients had a final diagnosis of ischaemic stroke;age 75(12)years,premorbid mRS>2107(18%),Glasgow Coma Scale 14(2)and time from onset to randomisation 67[45,108]***‘brain frailty’was common:median score 2[2,3](range 0–3).At day 90,GTN did not influence the primary outcome(acOR for increased disability 1.15,95%CI 0.85 to 1.54),death or global analysis(MWD 0.00,95%CI-0.10 to 0.09).In subgroup analyses,there were non-significant interactions suggesting GTN may be associated with more death and dependency in participants randomised within 1hour of symptom onset and in those with more severe *** In patients who had an ischaemic stroke,ultra-acute administration of transdermal GTN in the ambulance did not improve clinical outcomes in a population with more clinical and radiological frailty than seen in previous in-hospital *** IS ALREADY KNOWN ON THIS TOPIC⇒Transdermal glyceryl trinitrate(GTN)was associat-ed with less death and dependency in those w

关键词： Glasgow nitrate random