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

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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

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Mental health-related healthcare service utilisation and psychotropic drug dispensation trends in British Columbia during COVID-19 pandemic:a population-based study

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General psychiatry 2023年第1期36卷 50-57页

作者： Moe Zandy Sylvia El Kurdi Hasina Samji Geoff McKee Reka gustafson Kate Smolina BC Centre for Disease Control VancouverBritish ColumbiaCanada Faculty of Health Sciences Simon Fraser UniversityBurnabyBritish ColumbiaCanada School of population and public Health The University of British ColumbiaVancouverBritish ColumbiaCanada BC Children's Hospital Research Institute VancouverBritish ColumbiaCanada

Background The impact of the COVID-19 pandemic on the population’s mental health is vital for informing public health policy and ***,information on mental health-related healthcare service utilisation trends beyond the first year of the pandemic is *** We examined mental health-related healthcare service utilisation patterns and psychotropic drug dispensations in British Columbia,Canada,during the COVID-19 pandemic compared with the prepandemic *** We conducted a retrospective population-based secondary analysis using administrative health data to capture outpatient physician visits,emergency department visits,hospital admissions and psychotropic drug *** examined time trends of mental health-related healthcare service utilisation and psychotropic drug dispensations between January to December 2019(prepandemic period)and January 2020 to December 2021(pandemic period).In addition,we calculated age-standardised rates and rate ratios to compare mental health-related healthcare service utilisation before and during the first two years of the COVID-19 pandemic,stratified by year,sex,age and *** By late 2020,except for emergency department visits,utilisation of healthcare services recovered to prepandemic *** 2019 and 2021,the monthly average rate for overall mental health-related outpatient physician visits,emergency department visits and psychotropic drug dispensations increased significantly by 24%,5%and 8%,*** and statistically significant increases were observed among 10–14 year-olds(44%in outpatient physician visits,30%in emergency department visits,55%in hospital admissions and 35%in psychotropic drug dispensations)and 15–19 year-olds(45%in outpatient physician visits,14%in emergency department visits,18%in hospital admissions and 34%in psychotropic drug dispensations).Additionally,these increases were more prominent among females than males,with some variation for specif

关键词： service consequences Canada

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Introduction:innovative heritage-based post-crisis urban recovery strategies

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Built Heritage 2023年第2期7卷 1-2页

作者： Christer Gustafsson Matthias Ripp Department of Art History Uppsala University(SE)UppsalaSweden Department for cultural heritage RegensburgGermany

Resilience is a concept that has become more and more common during the last *** used in physics and psychology,just recently it has been transferred to the feld of urban planning,urban development and cultural *** purpose of this Special Issue of the international journal Built Heritage is to examine,and discuss,how the concept of resilience can be related to cultural *** understand resilience here in the sense of the SHELTER Resilience defnition which defnes diferent phases before,during and after a disaster or crisis.

关键词： journal disaster heritage

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plaque herniation after stenting the culprit lesion with myocardial bridging in ST elevation myocardial infarction: A case report

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World Journal of Cardiology 2020年第2期12卷 91-96页

作者： Jeffrey Ma Gregory M gustafson Xuming Dai Division of Cardiology Theresa and Eugene M.Lang Center for Research and Education New York Presbyterian–Queens Hospital

BACKGROUND Myocardial bridging(MB)is increasingly recognized to stimulate atherogenesis,which may contribute to an acute coronary *** the coronary segment with MB has been recognized to have an increased risk of in-stent restenosis,stent fracture and coronary *** safety and efficacy of stenting the culprit lesion with overlaying MB in ST elevation myocardial infarction(STEMI)as primary reperfusion therapy has not been *** SUMMARY We reported a patient who presented with inferior STEMI with a culprit lesion of an acute thrombotic occlusion in the right coronary artery and thrombolysis and thrombin inhibition in myocardial infarction 0 *** the stent placement during primary percutaneous coronary intervention,intravascular ultrasound revealed MB overlying the stented segment where heavy atherosclerotic plaque were *** due to the combination of plaque herniation or prolapse caused by MB,as well as local increased inflammation and thrombogenicity,acute stent thrombosis occurred at this region,which led to acute stent *** patient required an emergent repeated cardiac catheterization and placing a second layer of stent to enhance the radial strength and reduce the inter-strut *** plaque herniation or prolapse after stenting a MB segment in STEMI is a potential etiology for acute stent failure.

关键词： Case report ST elevation myocardial infarction Myocardial bridging plaque herniation plaque prolapse Intravascular ultrasound Acute stent thrombosis

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Remodeled structure and reduced contractile responsiveness of ocular ciliary artery in spontaneously hypertensive rats

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International Journal of Ophthalmology(English edition) 2019年第3期12卷 363-368页

作者： Ya-Ru Dong Claire E gustafson Jun Wang Ji-Zhe Cui Takeshi Yoshitomi Department of Ophthalmology the Second Hospital of Jilin University Department of Ophthalmology Akita University School of Medicine Division of Immunology and Rheumatology Department of Medicine Stanford University

AIM: To investigate the alterations in both structure and contractile responsiveness of ocular ciliary artery(OCA) in spontaneously hypertensive rat(SHR).METHODS: In this experiment, 20-week-old male SHR and Wistar Kyoto rat(WKY) were studied. The heart rate(HR), the blood pressure(Bp; the systolic Bp and the diastolic Bp) of rats with an electronic sphygmomanometer were measured. Vascular morphometry and isometric tension measurement were used to investigate the alterations in structure and contractility of ***: A general narrowing of OCAs was observed in SHR compared to the control WYK. In SHR, the media of OCAs were thicker, the luminal diameters were smaller, and the media-to-lumen ratios were higher when compared with WKY(ppinephrine were smaller in SHR compared to control(ppretreated with iberiotoxin, L-NAME, or indomethacin 30 min before norepinephrineinduced contraction. Iberiotoxin(0.1 μmol/L) has not changed the norepinephrine-induced contractions in OCAs from both groups. However, L-NAME(100 μmol/L) increased the vasoconstrictions, the increased extents were similar in SHR and WKY(p>0.05). Indomethacin(10 μmol/L) decreased the contractions induced by norepinephrine in OCAs from WKY(pp>0.05).CONCLUSION: Our results demonstrate that the structure and function of OCAs are altered in hypertension. OCAs from SHR are remodeled with decreased lumen diameter and increased media-to-lumen ratio. Moreover, the contractile responsiveness of OCAs from SHR is diminished due to the disruption of vasoconstrictive effect of prostaglandins.

关键词： remodeled structure contractile responsiveness ocular ciliary artery hypertension spontaneously hypertensive rat

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Extrapolating plot-scale CO_(2) and ozone enrichment experimental results to novel conditions and scales using mechanistic modeling

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Ecological processes 2018年第1期7卷 348-367页

作者： Eric J.gustafson Mark E.Kubiske Brian R.Miranda Yasutomo Hoshika Elena paoletti Institute for Applied Ecosystem Studies Northern Research StationUSDA Forest Service5985 Highway KRhinelanderWIUSA Institute of Sustainable plant protection National Council of ResearchVia Madonna del Piano 1050019 Sesto FiorentinoItaly

Introduction:The Aspen-FACE experiment was an 11-year study of the effect of elevated CO_(2) and ozone(alone and in combination)on the growth of model aspen communities(pure aspen,aspen-birch,and aspen-maple)in the field in northern Wisconsin,*** remains about how these short-term plotlevel responses might play out over broader temporal and spatial scales where climate change,competition,succession,and disturbances interact with tree-level *** this study,we used a new physiologybased approach(pnET-Succession v3.1)within the forest landscape model LANDIS-II to extrapolate the FACE results to broader temporal scales(and ultimately to landscape scale)by mechanistically accounting for the globally changing drivers of temperature,precipitation,CO_(2),and *** added novel algorithms to the model to mechanistically simulate the effects of ozone on photosynthesis through ozone-induced impairment of stomatal control(i.e.,stomatal sluggishness)and damage of photosynthetic capacity at the chloroplast ***:We calibrated the model to empirical observations of competitive interactions on the elevated CO_(2) and O_(3) plots of the Aspen-FACE experiment and successfully validated it on the combined factor *** used the validated model to extend the Aspen-FACE experiment for 80 *** only aspen clones competed,we found that clone 271 always dominated,although the ozone-tolerant clone was co-dominant when ozone was *** all treatments,when aspen clone 216 and birch competed,birch was always dominant or co-dominant,and when clone 216 and maple competed,clone 216 was dominant,although maple was able to grow steadily because of its shade *** also predicted long-term competitive outcomes for novel assemblages of taxa under each treatment and discovered that future composition and dominant taxa depend on treatment,and that short-term trends do not always persist in the long ***:We identified the strengths and weakne

关键词： Scaling Global change Elevated CO_(2) Ozone pollution Aspen-FACE Forest composition Carbon dynamics Forest landscape modeling LANDIS-II pnET-succession

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Intra-procedural arrhythmia during cardiac catheterization: A systematic review of literature

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World Journal of Cardiology 2020年第6期12卷 269-284页

作者： Fatima A Shaik David J Slotwiner Gregory M gustafson Xuming Dai Division of Cardiology New York Presbyterian Queens HospitalFlushingNY 11355United States

BACKGROUND Cardiac catheterization is among the most performed medical procedures in the modern *** were sporadic reports indicating that cardiac arrhythmias are common during cardiac catheterization,and there are risks of developing serious and potentially life-threatening arrhythmias,such as sustained ventricular tachycardia(VT),ventricular fibrillation(VF)and high-grade conduction disturbances such as complete heart block(CHB),requiring immediate ***,there is lack of systematic overview of these *** To systematically review existing literature and gain better understanding of the incidence of cardiac arrhythmias during cardiac catheterization,and their impact on outcomes,as well as potential approaches to minimize this *** We applied a combination of terms potentially used in reports describing various cardiac arrhythmias during common cardiac catheterization procedures to systematically search pubMed,EMBASE and Cochrane databases,as well as references of full-length *** During right heart catheterization(RHC),the incidence of atrial arrhythmias(premature atrial complexes,atrial fibrillation and flutter)was low(pment of a new RBBB at a rate of 0.1%-0.3%in individuals with normal conduction system but up to 6.3%in individuals with pre-existing left bundle branch *** patients may require temporary pacing due to transient *** premature ventricular complexes or non-sustained VT are common during RHC(up to 20%of cases).Sustained ventricular arrhythmias(VT and/or VF)requiring either withdrawal of catheter or cardioversion occurred infrequently(1%-1.3%).During left heart catheterizations(LHC),the incidence of ventricular arrhythmias has declined significantly over the last few decades,from 1.1%historically to 0.1%*** overall reported rate of VT/VF in diagnostic LHC and coronary angiography is 0.8

关键词： Catheterization Coronary angiography percutaneous coronary intervention Ventricular fibrillation Ventricular tachycardia

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Nature＇s Artistic Narrative

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Journal of Literature and Art Studies 2017年第10期7卷 1371-1382页

作者： Lowell gustafson Villanova University Villanova PA USA

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OGRp --Open GNSS Receiver protocol

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Journal of Geodesy and Geomatics Engineering 2016年第2期3卷 1-7页

作者： Dirk Kowalewski Frank Heinen Bo gustafson per gustafson navXperience GmbH Germany Laboratory for Astrophysics Department of Astronomy University of Florida USA Institute for Housing and Urban Research Uppsala University Sweden

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