10 research outputs found

    New insights into the genetic etiology of Alzheimer's disease and related dementias

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    Characterization of the genetic landscape of Alzheimer's disease (AD) and related dementias (ADD) provides a unique opportunity for a better understanding of the associated pathophysiological processes. We performed a two-stage genome-wide association study totaling 111,326 clinically diagnosed/'proxy' AD cases and 677,663 controls. We found 75 risk loci, of which 42 were new at the time of analysis. Pathway enrichment analyses confirmed the involvement of amyloid/tau pathways and highlighted microglia implication. Gene prioritization in the new loci identified 31 genes that were suggestive of new genetically associated processes, including the tumor necrosis factor alpha pathway through the linear ubiquitin chain assembly complex. We also built a new genetic risk score associated with the risk of future AD/dementia or progression from mild cognitive impairment to AD/dementia. The improvement in prediction led to a 1.6- to 1.9-fold increase in AD risk from the lowest to the highest decile, in addition to effects of age and the APOE ε4 allele

    Weighing up the evidence: The contribution of critical literature reviews to the development of practice

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    Over the past decade there has been increasing awareness of the importance of using sound research evidence to assist clinicians, patients and clients to make informed decisions about aspects of care. The recent drive towards promoting evidence-based healthcare has provided an added impetus, highlighting the important and unique contribution of systematic reviews to this decision-making process. This paper argues that healthcare professionals should also draw on evidence and insights derived from a broader range of research traditions rather than relying on synthesised evidence from randomised controlled trials. The potential of other types of literature is explored

    Standardized Neurocognitive Assessment of Traumatic Brain Injury

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    Mikromekaaninen oskillaattori

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    Tässä diplomityössä tutustuttiin kapasitiivisesti kytketyllä mikromekaanisella resonaattorilla stabiloidun sähkömekaanisen oskillaattorin teoriaan: resonaattorin mekaniikkaan ja vahvistimen elektroniikkaan. Esitetyn teorian pohjalta suunniteltiin ja rakennettiin sähkömekaaninen 500 kHz:n Pierce-oskillaattori. Prototyypin toiminta demonstroitiin mittauksin. Prototyypin mittauksissa todennettiin mikromekaanisen oskillaattorin värähtelytaajuuden ja -amplitudin riippuvuus resonaattorin biasjännitteestä; mittaustulokset olivat ennusteiden mukaiset. Oskillaattorin värähtelytarkkuutta kuvaava vaihekohina mitattiin tarkoitukseen suunnitellulla laitteistolla. Mitattu vaihekohina oli -123dBc@SkHz. Prototyypissä käytettiin palkkiresonaattoria, jonka epälineaarisuuden seurauksena oskillaattorin ulostulo oli säröytynyt. Työssä pohdittiin myös fysikaalisia rajoja palkkiresonaattoriin perustuvan mikromekaanisen oskillaattorin suorituskyvylle

    New insights into the genetic etiology of Alzheimer’s disease and related dementias

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    Characterization of the genetic landscape of Alzheimer’s disease (AD) and related dementias (ADD) provides a unique opportunity for a better understanding of the associated pathophysiological processes. We performed a two-stage genome-wide association study totaling 111,326 clinically diagnosed/‘proxy’ AD cases and 677,663 controls. We found 75 risk loci, of which 42 were new at the time of analysis. Pathway enrichment analyses confirmed the involvement of amyloid/tau pathways and highlighted microglia implication. Gene prioritization in the new loci identified 31 genes that were suggestive of new genetically associated processes, including the tumor necrosis factor alpha pathway through the linear ubiquitin chain assembly complex. We also built a new genetic risk score associated with the risk of future AD/dementia or progression from mild cognitive impairment to AD/dementia. The improvement in prediction led to a 1.6- to 1.9-fold increase in AD risk from the lowest to the highest decile, in addition to effects of age and the APOE ε4 allele. © 2022, The Author(s)

    Packaging for Bio-micro-electro-mechanical Systems (BioMEMS) and Microfluidic Chips

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