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Autism genetics: Methodological issues and experimental design

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Science China(Life Sciences) 2015年第10期58卷 946-957页

作者： Roberto SACCO carla LINTAS Antonio M.PERSICO Department of Child Neuropsychiatry and Laboratory of Molecular Psychiatry and Neurogenetics University "Campus Bio-Medico" Department of Experimental Neurosciences I.R.C.C.S."Fondazione Santa Lucia"

Autism is a complex neuropsychiatric disorder of developmental origin, where multiple genetic and environmental factors likely interact resulting in a clinical continuum between "affected" and "unaffected" individuals in the general population. During the last two decades, relevant progress has been made in identifying chromosomal regions and genes in linkage or association with autism, but no single gene has emerged as a major cause of disease in a large number of patients. The purpose of this paper is to discuss specific methodological issues and experimental strategies in autism genetic research, based on fourteen years of experience in patient recruitment and association studies of autism spectrum disorder in Italy.

关键词： autistic disorder endophenotype genetic association genetics pervasive developmental disorders

Experimental Exclusion of Guanaco Grazing Increases Cover, Diversity, Land Function and Plant Recruitment in Patagonia

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Phyton-International Journal of Experimental Botany 2024年第7期93卷 1383-1401页

作者： carla Cepeda Gabriel Oliva Daniela Ferrante INTA Instituto Nacional de Tecnología Agropecuaria Santa Cruz9400Rio GallegosArgentina Universidad Nacional de la Patagonia Austral Santa Cruz9400Rio GallegosArgentina

Semiarid Patagonia represents 25%of the rangeland area in Argentina,and sheep overgrazing has degraded about a third of it in the *** this century,depleted domestic stocks have mostly stabilized,but Guanaco populations have *** native camelids share habitat and diets with sheep,but their effect on vegetation is poorly understood and has long been *** set up an exclusion experiment in Monte León and Cañadón Vaca,a semiarid shrubland grassland in southern Patagonia,currently grazed only by *** baselines were studied in 2016 in twelve plots,and half of them were protected from guanaco ***-six plots were cleared to study *** was reassessed in 2021,and changes were evaluated using a paired *** protected plots,vegetation cover increased,bare soil diminished,and vegetated patches grew in size,but the density of the patch-interpatch arrangement did not ***,measured by richness and the Shan-non-Wiener(SW)index,grew signiﬁ*** recycling increased,as did the Stability and Inﬁltration Land Function indexes,although these last differences were not signiﬁ*** cover under guanaco grazing also increased,mainly due to the growth of dwarf shrubs,a typical tendency in sheep grazing-induced transitions in the *** patches under grazing fragmented,resulting in smaller patches and denser patch struc-tures,while diversity and land function indexes remained *** plants established in cleared plots without guanacos showed higher cover density and individual *** effects are similar to those observed in numerous experimental sheep *** grazing may thus prevent restoration and contribute to the generalized land degradation processes that overgrazing has been causing in Patagonia for over a century.

关键词： Rangelands herbivory biodiversity overgrazing carrying capacity fauna

A biophysical perspective on the unexplored mechanisms driving Parkinson’s disease by amphetamine-like stimulants

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Neural Regeneration Research 2021年第11期16卷 2213-2214页

作者： carla Ferreira Joana Couceiro Sandra Tenreiro Alexandre Quintas Molecular Pathology and Forensic Biochemistry Laboratory Centro de Investigação Interdisciplinar Egas MonizP-2825-084 CaparicaPortugal Laboratório de Ciências Forenses e Psicológicas Egas Moniz Campus Universitário–Quinta da GranjaMonte de CaparicaP-2825-084 CaparicaPortugal Faculty of Medicine of Porto University Al.Prof.Hernâni MonteiroP-4200–319 PortoPortugal iNOVA4Health CEDOCNOVA Medical SchoolNMSUniversidade Nova de Lisboa1169-056 LisboaPortugal

Epidemiological studies have reported an increased risk of Parkinson’s disease(PD)development in amphetamine-type stimulant users during their lifetime(Garwood et al.,2006;Rumpf et al.,2017).Protein inclusions mainly composed of misfolded and aggregatedα-synuclein are the pathological hallmark of PD and other disorders known as *** studies present evidence that amphetamine upregulatesα-synuclein synthesis in substantia *** increment ofα-synuclein levels promotes its aggregation and amyloid fibril formation,increasing reactive oxygen species(ROS),and consequently dopamine oxidation(Wang and Witt,2014),known to be toxic for dopaminergic neurons involved in motor function and limbicmotor *** the years,these damaged cells lose their functionality and may die precociously,depleting the reserve of neural cells necessary for the normal neurological function which contributes to the onset of PD,when a critical number of cells are lost(Garwood et al.,2006).Therefore,the use of amphetamine-type stimulants may be a trigger event in the development of PD and parkinsonism,in conjugation to other risk factors that a given individual may *** the evidence,a previous study suggests that there is not enough data to corroborate the loss of dopamine neurons due to human amphetamine-type stimulant exposure,and consequently its implication in the PD development(Kish et al.,2017).

关键词： driving increment lifetime

Chronic Diseases of Childhood and the International Classification of Functioning, Disability, and Health: A Systematic Review

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Health 2022年第7期14卷 751-765页

作者： Daniela Koeller Rodrigues Vieira carla Trevisan M. ribeiro Roseane de Lima ribeiro Lara Carolina Januário Cabral Center for Assistive Technology and Health Products National Institute for Women Children and Adolescents Fernandes Figueira Oswaldo Cruz Foundation (IFF-Fiocruz) Rio de Janeiro Brazil

The increase in chronic diseases in childhood highlights the need for a biopsychosocial approach to deal with the complexity of these health conditions. The International Classification of Functioning, Disability, and Health (ICF) results from the need to implement new explanatory evaluative and therapeutic models. Thus, the present systematic review aims to identify published studies on the use of the ICF in chronic childhood diseases. As a secondary objective, to map the themes that have already been studied in the area to support the discussion on the expansion of the use of this classification in health services. The systematic review followed the PRISMA protocol, and the model was the PICO acronym, where Population was children and adolescents with chronic diseases, Intervention/Exposure was evaluation based on ICF concepts, Comparator was any tool, instrument, or intervention, and outcome was direct or indirect use of the ICF. We selected eight articles, five of which used the ICF as a conceptual tool and three as a classification system, divided into the following themes: quality of life, evaluation of patients (without using coding) and mapping the inclusion of the activity’s results and participation in clinical trials. Thus, use of the ICF in clinical practice is still incipient, although it has been recommended in guidelines. Further studies are necessary to expand the number of contributions by the ICF and to develop the necessary approaches for understanding the classification’s use.

关键词： Chronic Diseases International Classification of Functioning Disability and Health Child Adolescent Disabled Children

Thermal transport and phase transitions of zirconia by on-the-fly machine-learned interatomic potentials

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npj Computational Materials 2021年第1期7卷 1426-1434页

作者： carla Verdi Ferenc Karsai Peitao Liu Ryosuke Jinnouchi Georg Kresse University of Vienna Faculty of PhysicsComputational Materials PhysicsKolingasse 14-161090 ViennaAustria VASP Software GmbH Sensengasse 81090 ViennaAustria Toyota Central R&D Labs. Inc.Aichi 480-1192Japan

Machine-learned interatomic potentials enable realistic finite temperature calculations of complex materials properties with firstprinciples *** is not yet clear,however,how accurately they describe anharmonic properties,which are crucial for predicting the lattice thermal conductivity and phase transitions in solids and,thus,shape their technological *** we employ a recently developed on-the-fly learning technique based on molecular dynamics and Bayesian inference in order to generate an interatomic potential capable to describe the thermodynamic properties of zirconia,an important transition metal *** machine-learned potential accurately captures the temperature-induced phase transitions below the melting *** further showcase the predictive power of the potential by calculating the heat transport on the basis of Green–Kubo theory,which allows to account for anharmonic effects to all *** study indicates that machine-learned potentials trained on the fly offer a routine solution for accurate and efficient simulations of the thermodynamic properties of a vast class of anharmonic materials.

关键词： materials transitions harmonic

Resource requirements of an edge-based digital twin service:an experimental study

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Virtual Reality & Intelligent Hardware 2022年第6期4卷 506-520页

作者： Federico MUNGARI Milan GROSHEV carla Fabiana CHIASSERINI Department of Electronics and Telecommunications Politecnico di TorinoTurin 10129Italy Departamento de Ingenieria Telematica Universidad Carlos III de MadridMadrid 28911Spain

Digital Twin(DT)is a pivotal application under the industrial digital transformation envisaged by the fourth industrial revolution(Industry 4.0).DT defines intelligent and real-time faithful reflections of physical entities such as industrial robots,thus allowing their remote *** on the latest advances in Information and Communication Technologies(ICT),namely Network Function Virtualization(NFV)and Edge-computing,DT can be deployed as an on-demand service in the factories close proximity and offered leveraging radio access ***,with the purpose of achieving the well-known scalability,flexibility,availability and performance guarantees benefits foreseen by the latest ICT,it is steadily required to experimentally profile and assess DT as a Service(DTaaS)***,the dependencies between the resources claimed by the service and the relative demand and work loads require to be *** this work,an Edge-based Digital Twin solution for remote control of robotic arms is deployed in an experimental testbed where,in compliance with the NFV paradigm,the service has been segmented in virtual network *** research has primarily the objective to evaluate the entanglement among overall service performance and VNFs resource requirements,and the number of robots consuming the service *** profiles show the most critical DT features to be the inverse kinematics and trajectory ***,the same analysis has been carried out as a function of the industrial processes,namely based on the commands imposed on the robots,and particularly of their ion-level,resulting in a novel trade-off between computing and time resources requirements and trajectory *** derived results provide crucial insights for the design of network service scaling and resource orchestration fra-meworks dealing with DTaaS ***,we empirically prove LTE shortage to accommodate the minimum DT latency requirements.

关键词： Digital twin Edge NFV Testbed Performance evaluation

Neurorestoration from medicinal plants:an opportunity to treat painful neuropathies

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Neural Regeneration Research 2017年第3期12卷 403-404页

作者： Lorenzo Di Cesare Mannelli carla Ghelardini Department of Neuroscience PsychologyDrug Research and Child Health-NEUROFARBA-Pharmacology and Toxicology SectionUniversity of FlorenceFlorenceItaly

Neuropathic pain originates from damages to the somatosensory nervous system（IASP-International Association for the Study of Pain-taxonomy）.Lesions（traumas,compression,iatrogenic and pharmacological causes）or dise... 详细信息

关键词： Neurorestoration from medicinal plants:an opportunity to treat painful neuropathies EFSA

Interaction between Helicobacter pylori infection, nonsteroidal anti-inflammatory drugs and/or low-dose aspirin use: Old question new insights

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World Journal of Gastroenterology 2014年第28期20卷 9439-9450页

作者： Carlos Sostres carla Jerusalen Gargallo Angel Lanas Service Department of Digestive Diseases University Hospital Lozano Blesa Digestive Diseases Department Aragon Health Sciences Institute CIBERehd University of Zaragoza (Zaragoza)

Previous reports clearly demonstrated that Helicobacter pylori(***)infection,nonsteroidal anti-inflammatory drugs(NSAID)or low dose aspirin(ASA)use significantly and independently increased the risk for the development of peptic ulcer ***,the presence of *** infection associated with low dose ASA and/or NSAID use in the same patient is becoming more frequent and therefore the potential interaction between these factors and the consequences of it has important *** NSAID intake in the presence of *** infection may further increase the risk of peptic ulcer carried by the presence of only one risk factor is still a matter of *** on the interaction between the two risk factors yielded conflicting data and no consensus has been reached in the last *** addition,the interaction between *** infection and low-dose ASA remains even more *** real clinical practice,we can find different clinical scenarios involving these three factors associated with the presence of different gastrointestinal and cardiovascular risk *** huge variety of possible combinations greatly hinder the decision making process of physicians.

关键词： Nonsteroidal anti-inflammatory drugs Low dose aspirin Helicobacter pylori infection Helicobacter pylori eradication Peptic ulcer disease

On the wavelet analysis of cutting forces for chatter identification in milling

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Advances in Manufacturing 2017年第2期5卷 130-142页

作者： Cesar Giovanni Cabrera Anna carla Araujo Daniel Alves Castello Department of Mechanical Engineering UniversidadeFederal do Rio de Janeiro Rio de Janeiro Brazil

Chatter vibrations in machining operations affect surface finishing and tool behaviour, particularly in the end-milling of aluminum parts for the aerospace industry. This paper presents a methodological approach to identify chatter vibrations during manufacturing processes. It relies on wavelet analyses of cutting force signals during milling operations. The cutting-force signal is first decomposed into an approximation/trend sub-signal and detailed subsignals, and it is then re-composed using modified subsignals to reduce measurement noise and strengthen the reference peak forces. The reconstruction of the cuttingforce signal is performed using a wavelet denoising pro- cedure based on a hard-thresholding method. Four experimental configurations were set with specific cutting parameters using a workpiece specifically designed to allow experiments with varying depths of cut. The experimental results indicate that resultant force peaks （after applying the threshold to the detailed sub-signals） are related to the presence of chatter, based on the increased correlation of such peaks and the surface roughness profiles, thereby reinforcing the applicability of the proposed method. The results can be used to control the online occurrence of chatter in end-milling processes, as the method does not depend on the knowledge of cutting geometry nor dynamic parameters.

关键词： Cutting force End milling Chatter Waveletfilter