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A promise of genomics in precision medicine is to provide individualized genetic risk predictions. Polygenic risk scores (PRS), computed by aggregating effects from many genomic variants, have been developed as a useful tool in complex disease research. However, the application of PRS as a tool for predicting an individual's disease susceptibility in a clinical setting is challenging because PRS t
The past years have seen the rise of genomic biobanks and mega-scale meta-analysis of genomic data, which promises to reveal the genetic underpinnings of health and disease. However, the over-representation of Europeans in genomic studies not only limits the global understanding of disease risk but also inhibits viable research into the genomic differences between carriers and patients. Whilst the
Parkinson’s disease (PD) is a complex, progressive neurological condition that impacts daily life and reduces life satisfaction (LS). To achieve and maintain high LS, persons with PD (PwPD) must go through a process of change to adapt to their new life situation. However, our knowledge about this process is very limited. The aim of this study was to investigate the process of change, and the main
In many Gram-positive bacteria, the redox-sensing transcriptional repressor Rex controls central carbon and energy metabolism by sensing the intra cellular balance between the reduced and oxidized forms of nicotinamide adenine dinucleotide; the NADH/NAD+ ratio. Here, we report high-resolution crystal structures and characterization of a Rex ortholog (Gbs1167) in the opportunistic pathogen, Strepto
Translation termination in eukaryotes is governed by the concerted action of eRF1 and eRF3 factors. eRF1 recognizes the stop codon in the A site of the ribosome and promotes nascent peptide chain release, and the GTPase eRF3 facilitates this peptide release via its interaction with eRF1. In addition to its role in termination, eRF3 is involved in normal and nonsense-mediated mRNA decay through its
Purpose: Institutional and commercial web profiles that provide biobibliographic information about researchers are used for promotional purposes but also as information sources. In the latter case, the profiles' (re)presentations of researchers may be used to assess whether a researcher can be trusted. The article introduces a conceptual framework of how trust in researchers may be formed based on
Background: Functional head impulse test (fHIT) tests the ability of the vestibulo-ocular reflex (VOR) to allow visual perception during head movements. Our previous study showed that active head movements to the side with a vestibular lesion generated a dynamic visual performance that were as good as during movements to the intact side. Objective: To examine the differences in eye position during
BACKGROUND: To describe visual field (VF) outcome in three adolescents with damage to the optic radiation and to focus on mechanisms that may compensate the practical functional limitations of VF defects.DESIGN: Descriptive, prospective multi-case study in a hospital setting.PARTICIPANTS: Three teenagers with cerebral visual dysfunction because of damage to the retro-geniculate visual pathways.MET
Efter att ha dominerat angloamerikansk filosofi under 1800-talets sista decennier kom idealismen att förlora sin ställning efter sekelskiftet, då övergången från viktorianska till modernistiska ideal, snabba sociala förändringar, ökad sekularisering och naturvetenskapens dominans tycktes kräva nytt filosofiskt tänkande. Vid andra världskrigets utbrott var idealismen utdöd och ersatt av den analytiAfter having dominated philosophical thought in Britain and the United States during the end of the nineteenth century, idealism was in steady decline by the outbreak of World War I. Its ideas and ideals seemed unsuited to face the transition from Victorianism to modernism and the rapid social changes of the post-war era. Its Anglo-American proponents—who were often liberals—were accused of indire
Nanoparticles in a biological fluid (plasma, or otherwise) associate with a range of biopolymers, especially proteins, organized into the “protein corona” that is associated with the nanoparticle and continuously exchanging with the proteins in the environment. Methodologies to determine the corona and to understand its dependence on nanomaterial properties are likely to become important in bionan
Anomaly detection is the process of identifying unexpected data samples in datasets. Automated anomaly detection is either performed using supervised machine learning models, which require a labelled dataset for their calibration, or unsupervised models, which do not require labels. While academic research has produced a vast array of tools and machine learning models for automated anomaly detecti
Advanced therapies for Parkinson's disease (PD) constitute a broad range of treatments, each presenting specific ethical challenges. Some of these therapies are established and in clinical use, like device-aided therapies, and others, based on advanced therapeutic medicinal products (ATMPs), are still in early stage of clinical trials. This paper focuses on some common ethical issues arising in th
Assignment of the G3m(g) and (b) correlative amino acid residues was performed at the genomic level by direct sequencing of DNA from nine Caucasian individuals. Two oligonucleotide primers were used for subclass-specific enzymatic amplification of a DNA segment comprising a major portion of the second and third constant region domains (CH2 and CH3) fo the human IgG3 heavy chain gene. Comparison of
AimIntraoperative rectal washout is performed to eliminate exfoliated intraluminal cancer cells and thereby decrease the risk of local recurrence. Rectal washout in abdominoperineal resection has not been studied. The aim of this study was to assess the oncological outcome after rectal washout in abdominoperineal resection for rectal cancer and to find evidence as to whether rectal washout should
Background: Community services for Swedish people with intellectual disability (ID) are intended to support self-determination and integrity. Legislation does not allow the use of restrictive or coercive measures. Aim: The aim of this study is to identify the extent of, rationale for, and strategies staff believe would reduce the use of restrictive measures in group homes and daily activities serv
Over the last 50 years, the production and consumption of chicken meat have soared in Bolivia. This paper analyzes the political, economic, and cultural developments that have led to the popularity of chicken meat in this country. It also asks who has benefitted from this success story. The author uses data from one year of multi-sited ethnographic fieldwork in Bolivia in order to give an account
Interactions between cortical areas were studied during the search for verbal associations and reading of words. The functional anatomy and the sequence of involvement of cortical areas during the solution of these tasks have been described previously, in studies using positron emission tomography and multichannel recordings of evoked potentials combined with identification of the locations of dip
