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Primary mitochondrial diseases are a heterogeneous group of rare genetic disorders affecting approximately 125 persons per million. Mutations underlying these diseases give rise to biological changes (including decrease in cellular energy production and increase in reactive oxygen species), leading to organ failure, and commonly early morbidity. Mitochondrial diseases often present in early childh
Purpose: The triglyceride-glucose index (TyG index) is a marker of insulin resistance and metabolic dysfunction and has the advantage of being universally available. Although recent evidence suggests the TyG index has relevance to respiratory health, there have been no prospective studies assessing its value as a biomarker for chronic lung diseases. We aim to assess the TyG index as a potential ri
This chapter focuses on challenge and reciprocity in researcher-student collaborative labour (Zigo 2001) in a large multilingual secondary school in Sweden. The school was recruited for a larger longitudinal study of classroom language policy. For the purposes of the present chapter, we analysed ethnographic data to shed light on the well-known challenge of recruiting and retaining students to par
Embedded-cluster models of crystalline solids are important to allow accurate wave function methods to be applicable to solids. The ab-initio model potential method, in which the crystal is divided into three different fragments, one quantum fragment, one ab-initio model potential fragment and one point-charge fragment, has historically been shown to be a viable tool for describing the electronic
Traffic safety is a complex and important research area with the potential to save many lives in the future. Two key problems are considered, namely the gathering of reliable and detailed road user statistics which can be used to estimate the safety of a traffic environment and taking advantage of surveillance infrastructure to guide and assist vehicles in real time, primarily autonomous ones. A c
Background/Aims Sociodemographic factors are associated with perceived overall health status or ‘self-rated health’. However, research using data from the comprehensive population register in Sweden to examine self-rated health in pregnant women is limited. This study aimed to examine sociodemographic factors associated with self-rated health before, during and after pregnancy in low-risk pregnant
Background: High-throughput sequencing often provides a foundation for experimental analyses in the life sciences. For many such methods, an intermediate layer of bioinformatics data analysis is the genomic signal track constructed by short read mapping to a particular genome assembly. There are many software tools to visualize genomic tracks in a web browser or with a stand-alone graphical user i
Background: Existing working heart models for ex vivo functional evaluation of donor hearts often use cardiac afterloads made up of discrete resistive and compliant elements. This approach limits the practicality of independently controlling systolic and diastolic aortic pressure to safely test the heart under multiple loading conditions. We present and investigate a novel afterload concept design
Background: Pathogenic variants in KCNJ13 have been associated with both autosomal dominant Snowflake vitreoretinal degeneration (SVD) and autosomal recessive Leber congenital amaurosis. SVD is characterized by aberrant vitreoretinal interface leading to increased risk of retinal detachment, crystalline retinal snowflake deposits, optic disc abnormalities, early-onset cataract, and cornea guttae.
Soil pH is probably the most important variable explaining bacterial richness and community composition locally as well as globally. In contrast, pH effects on fungi appear to be less pronounced, but also less studied. Here we analyze the community responses of bacteria and fungi in parallel over a local extreme pH gradient ranging from 4 to 8. We established the pH gradient by applying strongly a
Purpose: The purpose of this systematic literature review is to contribute to the knowledge about barriers to change in urban freight systems and to support managed changes toward more sustainable urban freight systems. Method: This paper is based on a systematic review covering 93 peer-reviewed journal articles. The study was designed to advance earlier research in this area by providing a system
Accurate and reliable evaluation of muscle strength in para-athletes is essential for monitoring the effectiveness of strength training and/or rehabilitation programmes, and sport classification. Our aim is to synthesise evidence related to assessing muscle strength in para-athletes. Four databases were searched from January 1990 to July 2021 for observational studies focusing on strength assessme
Objectives: The primary objective was to investigate the utility of blood-basedbiomarkers of amyloid, tau, and neurodegeneration for (i) screening, (ii)enrichment, and (iii) tracking response to treatment in clinical trials of Alzheimer’sdisease.Methods: Longitudinal, participant-level data used in these studies was drawn fromthe Swedish BioFINDER study and the ADNI study. Participants were classi
Radiative transfer (RT) is a key component for investigating atmospheres of planetary bodies. With the 3D nature of exoplanet atmospheres being important in giving rise to their observable properties, accurate and fast 3D methods are required to be developed to meet future multidimensional and temporal data sets. We develop an open-source GPU RT code, gCMCRT, a Monte Carlo RT forward model for gen
BACKGROUND: Streptococcus bovis/equinus complex (SBSEC) comprise several species and subspecies and is a common cause of infective endocarditis (IE). S. gallolyticus subsp. gallolyticus (Sg gallolyticus) accounts for a majority of SBSEC IE, but the risk of IE for other subspecies is largely unknown. We aimed to investigate the clinical presentation of bacteraemia, and proportion of patients with I
