Search results for "35"

showing 10 items of 2413 documents

Lack of phenotypic additive effect of familial defective apolipoprotein B3531 in familial hypercholesterolaemia.

2020

Familial defective apolipoprotein (apo) B (FDB) and familial hypercholesterolaemia (FH) are the two common genetic conditions that cause hypercholesterolaemia. R3531C mutation of the APOB gene is a rare cause of FDB. Individuals with both FDB and FH are rare. A 51-year-old man with hypercholesterolaemia (11.4 mmol/L) and his family were studied. Low-density lipoprotein (LDL) receptor (LDLR) and APOB genes were analysed by direct sequencing. LDL of four subjects were studied in a fibroblast LDL receptor-binding displacement assay. We found a mutation of the LDLR gene (p.Y398X) in the proband and in four other family members: the p.R3531C APOB gene mutation was also found in the proband, his …

ProbandMalemedicine.medical_specialtyApolipoprotein B030204 cardiovascular system & hematologyCompound heterozygosityHyperlipoproteinemia Type II03 medical and health scienceschemistry.chemical_compoundFDB35310302 clinical medicineInternal medicineInternal MedicinemedicineHumans030212 general & internal medicineApolipoproteins Bdouble heterozygotebiologybusiness.industryCholesterolLDL receptornutritional and metabolic diseasesHeterozygote advantageMiddle AgedEndocrinologychemistryItalyReceptors LDLLDL receptorMutation (genetic algorithm)Mutationfamilial hypercholesterolaemiabiology.proteinlipids (amino acids peptides and proteins)businessLipoproteinInternal medicine journalReferences
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The impact of study design and diagnostic approach in a large multi-centre ADHD study: Part 2: Dimensional measures of psychopathology and intelligen…

2011

Contains fulltext : 97437.pdf (Publisher’s version ) (Open Access) BACKGROUND: The International Multi-centre ADHD Genetics (IMAGE) project with 11 participating centres from 7 European countries and Israel has collected a large behavioural and genetic database for present and future research. Behavioural data were collected from 1068 probands with ADHD and 1446 unselected siblings. The aim was to describe and analyse questionnaire data and IQ measures from all probands and siblings. In particular, to investigate the influence of age, gender, family status (proband vs. sibling), informant, and centres on sample homogeneity in psychopathological measures. METHODS: Conners' Questionnaires, St…

ProbandResearch designMale110 012 Social cognition of verbal communicationIntelligencePerception and Actions Mental Health [DCN 1]MedizinSocial Sciencescentre effectsDevelopmental psychology2738 Psychiatry and Mental Health0302 clinical medicinelcsh:PsychiatryMulticenter Studies as Topicsibling designChildATTENTION-DEFICIT/HYPERACTIVITY DISORDERMental DisordersWechsler ScalesWechsler Adult Intelligence Scale10058 Department of Child and Adolescent PsychiatryDiagnostic and Statistical Manual of Mental DisordersPsychiatry and Mental healthPhenotypeConduct disorderResearch DesignRELIABILITYFemaleFamily RelationsPsychologyClinical psychologyPsychopathologyResearch ArticleAdultlcsh:RC435-571DEFICIT HYPERACTIVITY DISORDERTWIN610610 Medicine & health150 000 MR Techniques in Brain Function03 medical and health sciencesmulti-centre studyADHD multi-centre studymedicineCriterion validityAttention deficit hyperactivity disorderHumansADHDGenetic Predisposition to Diseaseddc:610Medizinische Fakultät » Universitätsklinikum Essen » LVR-Klinikum Essen » Klinik für Psychiatrie Psychosomatik und Psychotherapie des Kindes- und JugendaltersSiblingMETAANALYSISFamily HealthPsychiatric Status Rating ScalesCHILD PSYCHIATRIC-PATIENTSSiblingsPARENTmedicine.disease030227 psychiatryAttention Deficit Disorder with HyperactivityCONDUCT DISORDERCRITERION VALIDITY030217 neurology & neurosurgery
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Soil Science Challenges in a New Era: A Transdisciplinary Overview of Relevant Topics

2020

Transdisciplinary approaches that provide holistic views are essential to properly understand soil processes and the importance of soil to society and will be crucial in the future to integrate distinct disciplines into soil studies. A myriad of challenges faces soil science at the beginning of the 2020s. The main aim of this overview is to assess past achievements and current challenges regarding soil threats such as ero-sion and soil contamination related to different United Nations sustainable development goals (SDGs) including (1) sustainable food production, (2) ensure healthy lives and reduce environmental risks (SDG3), (3) ensure water availability (SDG6), and (4) enhanced soil carbo…

Process (engineering)Climate changeSoil science010501 environmental sciences[SDV.SA.SDS]Life Sciences [q-bio]/Agricultural sciences/Soil study01 natural sciences12. Responsible consumptionrehabilitationsoil and human health11. SustainabilityDuurzaam Bodemgebruiklcsh:Environmental sciences0105 earth and related environmental sciencesGeneral Environmental SciencedegradationSustainable Soil Use2. Zero hungerSustainable developmentlcsh:GE1-350WIMEKsoil modeling04 agricultural and veterinary sciencesbiogeochemical cycles15. Life on landSoil contamination6. Clean waterSoloEnvironmental Systems Analysis13. Climate actionMilieusysteemanalyseGreenhouse gasSoil processes040103 agronomy & agricultureErosion0401 agriculture forestry and fisheriesEnvironmental scienceSoil conservationbiogeochemical cycles; degradation; rehabilitation; soil and human health; soil modeling; Soil researchsoil researchSoil research
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An Early Beginning of Citizen Science: Adolescents Experiencing Urban Energy Usages and Air Pollution

2021

Here, we report on the process and development of high school science projects, which were inspired by a citizen science program focused on urban monitoring. We gathered and discussed two 1980s projects’ data, involving 2600 students, 80 teachers, 15 scientists and 20 stakeholders. We added recent survey data from speaking with the former participants. Our analysis revealed key findings: (1) the process of a student-driven science investigation engages students in the scientific practices; (2) it is important to bring together scientists, teachers and students, reflecting the importance of multi-dimensional learning; and (3) citizen science was born before the 1990s, when the term came into…

Process (engineering)Energy (esotericism)RC435-571010501 environmental sciences01 natural sciencesPediatricsRJ1-5701980’sCitizen scienceComputingMilieux_COMPUTERSANDEDUCATIONPsychologySociology0105 earth and related environmental sciencesPsychiatrySettore ICAR/03 - Ingegneria Sanitaria-Ambientalebusiness.industry05 social sciences050301 educationGeneral MedicinePublic relations1980’STEMscience enthusiastsBF1-990ItalySettore AGR/14 - PedologiaSustainabilitySurvey data collectionbusinessSettore M-GGR/01 - Geografia0503 educationAdolescents
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Are Cities Aware Enough? A Framework for Developing City Awareness to Climate Change

2020

Cities are growing and becoming more complex, and as they continue to do so, their capacity to deal with foreseen and unforeseen challenges derived from climate change has to adapt accordingly. In the last decade, an effort has been made to build city resilience and improve cities' capacity to respond to, recover from and adapt to climate change. However, certain city stakeholders' lack of proactive behavior has resulted in less effective city resilience-building strategies. In this sense, the importance of developing stakeholders&rsquo

Process (engineering)media_common.quotation_subjectGeography Planning and DevelopmentFrameworkCity stakeholderslcsh:TJ807-8300211 other engineering and technologiesDelphi methodcity resiliencelcsh:Renewable energy sourcesClimate change02 engineering and technology010501 environmental sciencesManagement Monitoring Policy and LawAwareness development01 natural sciencesawareness developmentCity resiliencepoliciesframeworkCo-creationClimate changeEnvironmental planningPoliciesVDP::Teknologi: 500::Informasjons- og kommunikasjonsteknologi: 550lcsh:Environmental sciences0105 earth and related environmental sciencesmedia_commonlcsh:GE1-350city stakeholdersRenewable Energy Sustainability and the EnvironmentCo-creationlcsh:Environmental effects of industries and plantsStakeholder021107 urban & regional planningProactivityFocus groupclimate changelcsh:TD194-195BusinessPsychological resilienceco-creation
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Sustainable Development Model for the Automotive Industry

2019

The relationship between sustainability and business has become one of the central debates at the national and international level in both industrialized and emerging countries. A series of existing business models lack some critical aspects. The automotive industry strongly affects economic development, requiring rethinking business models in order to reduce their impact on the environment. An evaluation of the websites of the major automotive industry companies shows they have reported sustainability (through different methods) and present various practices in implementing organizational sustainability (OS). This paper aims to present a new business model for the automotive industry that …

Process managementGeography Planning and DevelopmentAutomotive industrysustainable strategyTJ807-830Management Monitoring Policy and LawBusiness modelTD194-195Renewable energy sourcesShareholderOrganization developmentGE1-350Emerging marketsstakeholderindustrial sustainabilitySustainable developmentcompetitivenessEnvironmental effects of industries and plantsRenewable Energy Sustainability and the Environmentbusiness.industryStakeholdersgdssustainabilityinnovationEnvironmental sciencesSustainabilityBusinessshareholderSustainability
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Business Models Addressing Sustainability Challenges—Towards A New Research Agenda

2020

From just another buzzword a few decades ago, sustainability has become a hot topic on strategists&rsquo

Process managementGeography Planning and Developmentlcsh:TJ807-830lcsh:Renewable energy sourcesContext (language use)010501 environmental sciencesManagement Monitoring Policy and LawBusiness modelsustainability of businessbusiness ethics01 natural sciencesbibliometric analysis0502 economics and businessprofitabilitylcsh:Environmental sciences0105 earth and related environmental scienceslcsh:GE1-350Renewable Energy Sustainability and the Environmentlcsh:Environmental effects of industries and plants05 social sciencessustainabilityVariety (cybernetics)Transformative learninglcsh:TD194-195Conceptual frameworkbusiness modelSustainabilitystrategic performanceProfitability indexBusinessperformance assessmentBusiness ethicscomplexity050203 business & managementintegrative approachSustainability
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Negotiation mechanisms for capacity allocation in distributed enterprises

2003

Abstract The paper proposes an agent based approach for the capacity allocation in distributed enterprises, characterized by complex and articulated organizations and by geographically distributed production capacities contended by many product families. In such a scenario the process of allocating the production capacity to the single customer order is one the major bottlenecks of the production planning activity as far as many organizational decisional levels are involved and market turbulence implies a continuous retuning of the capacity allocation plan. A high grade of reactiveness is needed. Agent based approaches and negotiation models, by decentralizing the decisional control and sim…

Process managementKnowledge managementComputer scienceProcess (engineering)business.industryMechanical Engineeringmedia_common.quotation_subjectComputer aided planningControl (management)Settore ING-IND/35 - Ingegneria Economico-GestionaleDecentralizationIndustrial and Manufacturing EngineeringNegotiationProduction planningmulti-agent systemProduction (economics)IDEF3distributed manufacturingbusinessRepresentation (mathematics)Settore ING-IND/16 - Tecnologie E Sistemi Di Lavorazionemedia_common
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Exploring the opportunities and challenges of european design policy to enable innovation. The case of designscapes project

2020

Design policy for innovation and prosperity has been acknowledged and adopted globally. Existing literature on design policy usually adopts a top-down perspective to analyse the components of the design innovation system and ignores the practical needs of practitioners. Our study aims to explore potential opportunities and challenges of design policies for design-enabled innovation from a bottom-up perspective. We firstly discussed the enabling role of design in the context of design as input, output and process of innovation with emphasis on design-enabled innovation conception

Process managementProcess (engineering)media_common.quotation_subjectGeography Planning and Developmentdesign0211 other engineering and technologiesTJ807-830Context (language use)02 engineering and technologyManagement Monitoring Policy and LawTD194-195:CIENCIAS ECONÓMICAS [UNESCO]Renewable energy sourcesdesign-enabled innovation0502 economics and businessProduction (economics)GE1-350Designscapes projectSWOT analysis021106 design practice & managementmedia_commonEnvironmental effects of industries and plantsRenewable Energy Sustainability and the Environment05 social sciencesPerspective (graphical)factorsCapacity buildingUNESCO::CIENCIAS ECONÓMICASSWOT analysisEnvironmental sciencesEuropeIdentification (information)design policyswot analysisBusinessProsperityeurope050203 business & management
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Value co-creation process and measurement in 4.0 SMEs: An exploratory research in a B2B marketing innovation context

2021

The purpose of this exploratory research is to contribute to the lack of empirical research exploring techniques and protocols that can be used to measure the level of value obtained from using these technologies in the various marketing processes and in a business-to-business (B2B) context. By doing so, firms operating in fast changing dynamic environments can develop the right means to continuously adapt, integrate, reconfigure, and redeploy resources and capabilities to become more competitive and disruptive in their offerings. The phenomenon of interest is described by applying a case study qualitative approach to three 4.0 companies which use virtual reality (VR)/augmented reality (AR)…

Process managementStandardizationProcess (engineering)Computer science05 social sciencesExploratory researchContext (language use)Virtual realityGeneral Business Management and AccountingB2Blcsh:Political institutions and public administration (General)value co-creationcase studyEmpirical researchmarketing innovationddc:3500502 economics and business4.0 industryCo-creationlcsh:JF20-2112050211 marketingAugmented reality050203 business & management
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