Search results for "Edge"

showing 10 items of 3866 documents

WES/WGS Reporting of Mutations from Cardiovascular "Actionable" Genes in Clinical Practice: A Key Role for UMD Knowledgebases in the Era of Big Datab…

2016

International audience; High-throughput next-generation sequencing such as whole-exome and whole-genome sequencing are being rapidly integrated into clinical practice. The use of these techniques leads to the identification of secondary variants for which decisions about the reporting or not to the patient need to be made. The American College of Medical Genetics and Genomics recently published recommendations for the reporting of these variants in clinical practice for 56 "actionable" genes. Among these, seven are involved in Marfan Syndrome And Related Disorders (MSARD) resulting from mutations of the FBN1, TGFBR1 and 2, ACTA2, SMAD3, MYH11 and MYLK genes. Here, we show that mutations col…

0301 basic medicinemedicine.medical_specialtyKnowledge BasesGenomicsmarfan-syndrome[SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics030105 genetics & heredityBiologycomputer.software_genreGenomeExAC03 medical and health sciencesAnnotationincidental findingsGeneticsmedicineHumanspathogenicityGenetic Predisposition to Diseasetgfbr2ExomegenomeESPGenetics (clinical)Exome sequencing[INFO.INFO-BI] Computer Science [cs]/Bioinformatics [q-bio.QM]variantsDatabasethoracic aortic-aneurysmsGenome HumanHigh-Throughput Nucleotide SequencingMYLKGenomicspredictionmutations3. Good healthMarfan syndrome030104 developmental biologydissection[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human geneticsCardiovascular DiseasesMutationMedical geneticsIdentification (biology)LSDB[INFO.INFO-BI]Computer Science [cs]/Bioinformatics [q-bio.QM]computerexome
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Unraveling the thread of uncontrolled immune response in COVID-19 and STEMI: an emerging need for knowledge sharing

2021

The outbreak of severe acute respiratory syndrome coronavirus 2 that first emerged in Wuhan in December 2019 has resulted in the devastating pandemic of coronavirus disease 2019, creating an emerging need for knowledge sharing. Meanwhile, myocardial infarction is and will probably remain the foremost cause of death in the Western world throughout the coming decades. Severe deregulation of the immune system can unnecessarily expand the inflammatory response and participate in target and multiple organ failure, in infection but also in critical illness. Indeed, the course and fate of inflammatory cells observed in severe ST-elevation myocardial infarction (neutrophilia, monocytosis, and lymp…

0301 basic medicinemedicine.medical_specialtyPhysiologyReview030204 cardiovascular system & hematologycoronavirus disease 201903 medical and health sciences0302 clinical medicineImmune systemMonocytosisImmunityPhysiology (medical)PandemicHumansMedicineIntensive care medicineCause of deathInflammationInnate immune systembusiness.industryCOVID-19Acquired immune systemmedicine.diseaseimmunityKnowledge sharingmyocardial infarction030104 developmental biologyImmune SystemST Elevation Myocardial InfarctionCardiology and Cardiovascular MedicinebusinessAmerican Journal of Physiology-Heart and Circulatory Physiology
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Knowledge, Awareness And Perceptions Of Females On Clandestine Abortion In Kintampo North Municipality, Ghana

2016

Clandestine Abortion will continue to be an integral part of human society as long as people continue to accept and engage in sexual activities without being prepared to give birth. Despite the risks (death and other health complication) involved in clandestine abortion, people continue to engage in the act. The central inquiry is; why do people continue to do clandestine abortions despite its associated risk? Do people have knowledge on abortion concerning its legalities and associated risks? This paper thus seeks to clarify the above questions by examining the knowledge, awareness and perceptions of females on abortion, with focus on clandestine abortion in the Kintampo North Municipality…

030219 obstetrics & reproductive medicinePovertyKnowledge awarenessmedia_common.quotation_subjectAbortionCriminologyAbortion law03 medical and health sciences0302 clinical medicinePolitical sciencePerceptionembryonic structures030212 general & internal medicinePublic educationHuman societySocial psychologyreproductive and urinary physiologymedia_commonEuropean Scientific Journal, ESJ
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Interfering with MIF-CD74 signalling on macrophages and dendritic cells with a peptide-based approach restores the immune response against metastatic…

2018

ABSTRACTMounting an effective immune response against cancer requires the activation of innate and adaptive immune cells. Metastatic melanoma is the most aggressive form of skin cancer. Immunotherapies that boost the activity of effector T cells have shown a remarkable success in melanoma treatment. Patients, however, can develop resistance to such therapies by mechanisms that include the establishment of an immune suppressive tumour microenvironment. Understanding how metastatic melanoma cells suppress the immune system is vital to develop effective immunotherapies against this disease. In this study, we find that the innate immune cells, macrophages and dendritic cells are suppressed in m…

0303 health sciencesInnate immune systemCD74Effectorbusiness.industrymedicine.medical_treatmentMelanomaanimal diseasesCancerchemical and pharmacologic phenomenaImmunotherapymedicine.diseaseHedgehog signaling pathway3. Good health03 medical and health sciences0302 clinical medicineImmune systemCancer researchmedicinebusiness030304 developmental biology030215 immunology
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How to Write Ethical User Stories? : Impacts of the ECCOLA Method

2021

AbstractArtificial Intelligence (AI) systems are increasing in significance within software services. Unfortunately, these systems are not flawless. Their faults, failures and other systemic issues have emphasized the urgency for consideration of ethical standards and practices in AI engineering. Despite the growing number of studies in AI ethics, comparatively little attention has been placed on how ethical issues can be mitigated in software engineering (SE) practice. Currently understanding is lacking regarding the provision of useful tools that can help companies transform high-level ethical guidelines for AI ethics into the actual workflow of developers. In this paper, we explore the i…

0303 health sciencesKnowledge managementComputer sciencebusiness.industryUser storyControl (management)ohjelmistotuotanto020207 software engineering02 engineering and technologyAi ethicstekoälyeettisyysSystem requirementsketterät menetelmät03 medical and health sciencesWorkflowSoftware0202 electrical engineering electronic engineering information engineeringWeb applicationbusinessohjelmistokehitys030304 developmental biologyAgile software development
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Client’s role and participation in stroke physiotherapy encounters: an observational study

2016

AbstractClient participation is a basic principle in rehabilitation encounters. Coping at home after stroke requires self-confidence and autonomy, which can be enhanced by active collaboration and knowledge sharing. Earlier studies show, however, that clients are not always offered the role of an active participant in physiotherapy practice. A contradiction remains between official rhetoric and clinical practice. The purpose of this study was to investigate the interaction between the client and the physiotherapist in stroke rehabilitation sessions. Eight video-recorded treatment sessions were observed after an educational intervention that focused on client participation. Discourse analysi…

030506 rehabilitationCoping (psychology)medicine.medical_specialtyDiscourse analysismedicine.medical_treatmentmedia_common.quotation_subjectFour discoursesinteractionPhysical Therapy Sports Therapy and Rehabilitation03 medical and health sciences0302 clinical medicinemedicine030212 general & internal medicinediscourse analysista316stroke rehabilitationmedia_commonSelf-efficacyRehabilitationcommunicationta3141Knowledge sharingPhysical therapyObservational study0305 other medical sciencePsychologyself-efficacyAutonomyEuropean Journal of Physiotherapy
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Ensuring Diverse User Experiences and Accessibility While Developing the TeSLA e-Assessment System

2019

The TeSLA project, with its new, innovative approaches for e-assessment, offers a great possibility for increasing the educational equality and making higher education studies available for all. It has been estimated that 10–15% of students in higher education institutions have some disabilities or special educational needs. At online universities or in online programmes, the number is even higher. These numbers emphasise the importance of the universal design for learning as a leading principle while developing the digital learning environments and e-assessment procedures. In this chapter, we describe the key elements of ensuring the accessibility of the TeSLA e-assessment system during th…

030506 rehabilitationKnowledge managementHigher educationkoulutusteknologiaoppiminenComputer sciencearviointimenetelmätstudent with special educational needs and disabilities (SEND student)luottamuksellisuus03 medical and health sciencesTeSLA ProjectvammaisuusUser experience designerityisopetusverkko-opiskeluuser experienceetäopetusComputingMilieux_COMPUTERSANDEDUCATIONerityiskasvatusverkkoarviointiTeSLA-projektiDigital learninge-assessmentetäopiskeluspecial educational needskäytettävyysbusiness.industry4. Education05 social sciences050301 educationUniversal Design for LearningUsabilityaccessibilityusabilityE-assessmente-arviointidisabilitysaavutettavuusKey (cryptography)Special educational needskäyttäjäkokemus0305 other medical sciencebusiness0503 educationarviointi
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Me, Myself and I - Supporting People with Intellectual Disabilities Towards Self-determination

2020

The transition into work is challenging for people with intellectual disabilities (ID) and there are few digital services that support this process. The transition involves several organizations and professionals that need to collaborate and coordinate their documentation and their initiatives. This prototype paper describes a self-reflective career tool designed to support young adults with ID towards self-determination and transitions into work. The users are supported through features such as mapping of interests, skills and abilities, goal setting and progress overview. The prototype of the self-reflective career tool has been evaluated formatively and is continuously redesigned and fur…

030506 rehabilitationWorking lifeKnowledge managementProcess (engineering)business.industrymedia_common.quotation_subject05 social sciences050301 educationmedicine.diseaseReflexive pronoun03 medical and health sciencesDocumentationSelf-determinationWork (electrical)Intellectual disabilitymedicine0305 other medical sciencebusinessPsychology0503 educationGoal settingmedia_common
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Learning about students in co-teaching teams

2021

Teachers are facing increasingly diverse classrooms globally. To support all students efficiently, teachers need to know their students. Drawing from the literature of teacher learning and inclusive education, we explored how teachers learn to know their students in a co-teaching context. Analysis of interviews and diaries of five co-teaching teams showed that teachers learned about their students in a co-taught classroom by observing students and by obtaining knowledge from and co-constructing knowledge with their co-teaching partner. Moreover, teachers’ learning led to shared responsibility for the student and a better understanding of student diversity. Thus, sharing knowledge of student…

030506 rehabilitationinclusive educationteacher knowledgeEducation03 medical and health sciencesArts and Humanities (miscellaneous)erityisopetusNeed to knowteacher learningComputingMilieux_COMPUTERSANDEDUCATIONMathematics educationCo-teachingopettaja-oppilassuhdestudents05 social sciences050301 educationTeacher learningco-teachingopettajatoppilaat516 Educational sciencesyhteisopettajuus0305 other medical sciencePsychology0503 educationinkluusioInternational Journal of Inclusive Education
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Rate of concurrent augmented auditory feedback in postural control learning in adolescents

2020

Introduction: The main objective of this study was to determine the rate of auditory concurrent feedback that best enhanced the learning of a continuous postural task in adolescents. Material and methods: A sample of thirty adolescents (13 to 14-years old) was used, who were assigned to three groups: i) control group (CG); ii) 100% auditory feedback group and iii) 67% auditory feedback group. The subjects performed a pre-test, practice, post-test and a retention (24 hours after the practice). In the postural control task subjects were instructed to remain on a seesaw (unstable in anteroposterior position) and keeping it as level as possible. Results: The results demonstrated that concurrent…

030506 rehabilitationmedicine.medical_specialtyAuditory feedbackgenetic structuresPhysiologybusiness.industryPhysical Therapy Sports Therapy and RehabilitationAudiologybehavioral disciplines and activitiesPostural controlTask (project management)03 medical and health sciences0302 clinical medicineKnowledge of resultsPhysiology (medical)MedicineOrthopedics and Sports Medicine0305 other medical sciencebusinessMotor learningpsychological phenomena and processes030217 neurology & neurosurgeryBalance (ability)Movement & Sport Sciences - Science & Motricité
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