Neurodegenerative diseases (NDDs) are associated with genetic variations including point substitutions, copy number alterations, insertions and deletions. At present, a few genetic variation repositories for some individual NDDs have been created, however, these databases are needed to be integrated and expanded to all the NDDs for systems biological investigation. We here build a relational d

Aims: Subclinical systemic inflammation may contribute to the development of type 2 diabetes, but its association with early progression of glycaemic deterioration in persons without diabetes has not been fully investigated. Our primary aim was to assess longitudinal associations of changes in pro-inflammatory (leukocytes, high-sensitivity C-reactive protein (hsCRP)) and anti-inflammatory (adipone

The detailed characterization of human biology and behaviors is now possible at scale owing to innovations in biomarkers, bioimaging, and wearable technologies; "big data" from electronic medical records, health insurance databases, and other platforms becoming increasingly accessible; and rapidly evolving computational power and bioinformatics methods. Collectively, these advances are creating un

Background: Progression time from islet autoimmunity to clinical type 1 diabetes is highly variable and the extent that genetic factors contribute is unknown. Methods: In 341 islet autoantibody-positive children with the human leucocyte antigen (HLA) DR3/DR4-DQ8 or the HLA DR4-DQ8/DR4-DQ8 genotype from the prospective TEDDY (The Environmental Determinants of Diabetes in the Young) study, we invest

In recent years, there has been an increasing interest in innovation studies towards grand challenges, and in how demand-side policy instruments can supplement traditional supply-side policy measures. To contribute to an improved understanding of how demand-side policy requires new governance responses, this article presents a case study of trialling assisted living technologies to address the gra

Artikeln utreder konsthistorieämnets disciplinära källor vid svenska universitet och lärda verk under 1800-talet.

Purpose: To report five novel genetic variants in seven unrelated consanguineous families with achromatopsia (ACHM). Methods: Patients were examined with multimodal retinal imaging and full-field electroretinography (ffERG). Genetic testing was conducted using next-generation sequencing (NGS). Results: Three novel homozygous variants were detected in CNGA3: a missense c.967G > C (p.Ala323Pro) vari

Artikeln behandlar det arbete som bedrevs på konstmuseerna, med attribution och katalogisering i centrum. Här berörs de värderingar av kopior och original som gradvis ändrades under 1800-talet samt bandet mellan den konsthistoriska utövningen på universiteten och museerna.

Introduction: Survival in patients with cyanotic congenital heart disease (CCHD) has improved dramatically. The result is an ageing population with risk of acquired heart disease. Previous small uncontrolled studies suggested that these patients are protected against the development of atherosclerosis. To test this hypothesis, we sought to determine the prevalence of subclinical atherosclerosis in

Surface–atmosphere energy exchange is strongly ecosystem-specific. At the same time, as the energy balance constitutes responses of an ecosystem to environmental stressors including precipitation, humidity and solar radiation, it results in feedbacks of potential importance for the regional climate. Northern peatlands represent a diverse class of ecosystems that cover nearly 6 × 106 km2 in the Bor

Importance: Targeted alpha therapy attempts to deliver systemic radiation selectively to cancer cells while minimizing systemic toxic effects and may lead to additional treatment options for many cancer types. Observations: Theoretically, the high-energy emission of short-range alpha particles causes complex double-stranded DNA breaks, eliciting cell death. No known resistance mechanism to alpha p

Intermittent fog occurrences supply significant amounts of moisture to plants in the form of fog drip onto the soil surface thereby prompting interest in their statistical behavior at multiple timescales. A comparison of rainfall and fog measurements collected at an inland tropical cloud forest in Kenya and a coastal rangeland in Northern California is presented to explore whether fog occurrences

Coexistence between great tits Parus major and blue tits Cyanistes caeruleus, but also other hole-nesting taxa, constitutes a classic example of species co-occurrence resulting in potential interference and exploitation competition for food and for breeding and roosting sites. However, the spatial and temporal variations in coexistence and its consequences for competition remain poorly understood.

Although conventional computer technology made a huge leap forward in the past decade, a vast number of computational problems remain inaccessible due to their inherently complex nature. One solution to deal with this computational complexity is to highly parallelize computations and to explore new technologies beyond semiconductor computers. Here, we report on initial results leading to a device

Previous in vitro and case–control studies have found an association between the insulin-like growth factor (IGF)-axis and bladder cancer risk. Circulating concentrations of IGF-I have also been found to be associated with an increased risk of several cancer types; however, the relationship between pre-diagnostic circulating IGF-I concentrations and bladder cancer has never been studied prospectiv

Analys av den kulturpolitiska debatt som föregick inrättandet av Bror Hjorths hus i Uppsala 1978. Baseras på mediarapportering, inlägg och uppföljande intervjuer.

A baseflow separation methodology combining the outcomes of the flow–duration curve and the digital filtering algorithms to cope with the restrictions of traditional procedures has been assessed. Using this methodology as well as the monitored and simulated hydro-climatological data, the baseflow annual variations due to climate change and human-induced activities were determined. The outcomes sho

Background. Knowledge on the globally outstanding Amazonian biodiversity and its environmental determinants stems almost exclusively from aboveground organisms, notably plants. In contrast, the environmental factors and habitat preferences that drive diversity patterns for micro-organisms in the ground remain elusive, despite the fact that micro-organisms constitute the overwhelming majority of li