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Ontology-based integration and querying of heterogeneous rare disease data sources — POLVAS perspective

The integration of rare disease medical databases belonging to different countries is an important problem, as a large number of observations are required for reliable statistical inference of patient data in order to facilitate clinical research. Such integration of national registry data, which requires harmonization of the heterogeneous data sets into a unified view, is facilitated in the Europ

Heart failure in first- and second-generation immigrants aged 18–54 years in Sweden : A national study

Purpose: We aimed at analysing the risk of congestive heart failure (CHF) among first- and second-generation immigrants in younger age groups. Methods: All individuals aged 18–54 years, n = 3 973 454 in the first-generation study and n = 3 817 560 in the second-generation study, were included. CHF was defined as at least one registered diagnosis in the National Patient Register between 1 January 1

Age at onset as an index of genetic heterogeneity in major psychiatric and substance use disorders

Background Robust clinical indices of etiologic heterogeneity for psychiatric disorders are rare. We investigate whether age at onset (AAO) reflects genetic heterogeneity, utilizing Genetic Risk Ratios (GRR) derived from Family Genetic Risk Scores (FGRS). Methods We examined, in individuals born in Sweden 1940-2003, whether AAO for five primary disorders - drug use disorder (DUD), alcohol use diso

Lower circulating mitochondrial DNA and increased mitokines suggest significant mitochondrial dysfunction in systemic lupus erythematosus with renal involvement

BACKGROUND: SLE is associated with significant morbidity, especially in the case of renal involvement. Mitochondrial dysfunction plays a significant role in SLE and may be assessed by measuring mitochondrial DNA (mtDNA) and cytokines reflecting mitochondrial stress (mitokines). Circulating mtDNA is a promising biomarker in SLE and appears to be reduced in severe SLE. However, measuring circulating

Resonantly Enhanced Optical Trapping of Single Dye-Doped Particles at an Interface

The optical resonance between an absorbing particle and the trapping laser can enhance the radiation force exerted on micro/nanoscale objects. However, the exact mechanism behind this resonance is still elusive. To unravel the phenomenon, we studied the resonance between a single dye-doped polystyrene particle and a 1064 nm trapping laser under specifically designed optical conditions. The dye-dop

Coherent Excitation and Control of Plasmons on Gold Using Two-Dimensional Transition Metal Dichalcogenides

The hybrid combination of two-dimensional (2D) transition metal dichalcogenides (TMDs) and plasmonic materials open up novel means of (ultrafast) optoelectronic applications and manipulation of nanoscale light-matter interaction. However, control of the plasmonic excitations by TMDs themselves has not been investigated. Here, we show that the ultrathin 2D WSe2 crystallites permit nanoscale spatial

Role of the Metal Oxide Electron Acceptor on Gold-Plasmon Hot-Carrier Dynamics and Its Implication to Photocatalysis and Photovoltaics

The recent discovery that metal nanoparticles can generate hot carriers upon light excitation is seen as a breakthrough in the fields of plasmonics and photonics. However, the high expectations for a plasmonic revolution in applications have been dampened by the ultrafast energy dissipation of surface plasmon polariton modes. While research aimed at suppressing loss mechanisms is still pursued, an

Nanoscale Growth Initiation as a Pathway to Improve the Earth-Abundant Absorber Zinc Phosphide

Growth approaches that limit the interface area between layers to nanoscale regions are emerging as a promising pathway to limit the interface defect formation due to mismatching lattice parameters or thermal expansion coefficient. Interfacial defect mitigation is of great interest in photovoltaics as it opens up more material combinations for use in devices. Herein, an overview of the vapor-liqui

Free Carriers versus Self-Trapped Excitons at Different Facets of Ruddlesden-Popper Two-Dimensional Lead Halide Perovskite Single Crystals

The physical origin of sub-band gap photoluminescence in Ruddlesden-Poppers two-dimensional (2D) lead halide perovskites (LHPs) is still under debate. In this paper, we studied the photoluminescence features from two different facets of 2D LHP single crystals: the in-plane facet (IF) containing the 2D inorganic layers and the facet perpendicular to the 2D layers (PF). At the IF, the free carriers

Zero-Dimensional Hybrid Organic-Inorganic Indium Bromide with Blue Emission

Low-dimensional hybrid organic-inorganic metal halides have received increased attention because of their outstanding optical and electronic properties. However, the most studied hybrid compounds contain lead and have long-term stability issues, which must be addressed for their use in practical applications. Here, we report a new zero-dimensional hybrid organic-inorganic halide, RInBr4, featuring

Amyotrophic lateral sclerosis (ALS) among immigrant groups and Swedish-born individuals : a cohort study of all adults 18 years of age and older in Sweden

Background: There is a lack of studies of amyotrophic lateral sclerosis (ALS) in immigrants. Objective: The objective is to study the association between country of birth and incident ALS in first-generation immigrants versus Swedish-born individuals, and in second-generation immigrants versus native Swedes. Methods: Study populations included all adults aged 18 years and older in Sweden, in the f

Elastic, Dynamic Viscoelastic and Model-Derived Fibril-Reinforced Poroelastic Mechanical Properties of Normal and Osteoarthritic Human Femoral Condyle Cartilage

Osteoarthritis (OA) degrades articular cartilage and weakens its function. Modern fibril-reinforced poroelastic (FRPE) computational models can distinguish the mechanical properties of main cartilage constituents, namely collagen, proteoglycans, and fluid, thus, they can precisely characterize the complex mechanical behavior of the tissue. However, these properties are not known for human femoral

Effect of energy bandgap and sacrificial agents of cyclopentadithiophene-based polymers for enhanced photocatalytic hydrogen evolution

A library of donor-acceptor system consisting of cyclopentadithiophene-based polymer photocatalysts have been designed and synthesized. Among all photocatalysts, the active PCPDTBSO achieved hydrogen evolution rates of 24.6 mmol h–1 g–1 with apparent quantum yields of 8.7 % at 500 nm. More importantly, combined the results of photocatalytic efficiency, apparent quantum yield, the time-resolved flu

Excited-state properties of Y-series small molecule semiconductors

The emergence of the Y series small molecule semiconductors, Y6 and its derivatives, have significantly improved the performance of polymer solar cells (PSCs). However, the excited-state properties of these Y-series small molecule semiconductors which are highly important for designing high-performance PSCs, need to be illustrated. In this work, the excited-state properties and electronic structur

Association of phthalate exposure with thyroid function during pregnancy

Background: The extent of thyroid disruptive effects of phthalates during pregnancy remains unclear. Aim: To investigate the association of maternal urinary phthalates with markers of the thyroid system during early pregnancy. Methods: Urinary concentrations of phthalate metabolites and serum concentrations of thyroid stimulating hormone (TSH), free and total thyroxine (FT4 and TT4) and free and t

DNA methylation at GRIN2B partially mediates the association between prenatal bisphenol F exposure and cognitive functions in 7-year-old children in the SELMA study

Background: Accumulating evidence suggests that prenatal chemical exposure triggers epigenetic modifications that could influence health outcomes later in life. In this study, we investigated whether DNA methylation (DNAm) levels at the glutamate ionotropic receptor NMDA type subunit 2B (GRIN2B) gene underlies the association between prenatal exposure to an endocrine disrupting chemical (EDC), bis

Prenatal exposure to bisphenols and cognitive function in children at 7 years of age in the Swedish SELMA study

Background: Experimental evidence demonstrates that exposure to bisphenol A (BPA), and the recently introduced alternatives bisphenol S (BPS) and bisphenol F (BPF) alter normal neurodevelopment. More research is needed to evaluate the associations between exposure to individual BPA alternatives and neurodevelopmental outcomes in humans. Objective: The present study aimed at examining the individua

Double Nanowires for Hybrid Quantum Devices

Parallel 1D semiconductor channels connected by a superconducting strip constitute the core platform in several recent quantum device proposals that rely, for example, on Andreev processes or topological effects. In order to realize these proposals, the actual material systems must have high crystalline purity, and the coupling between the different elements should be controllable in terms of thei

Water enabled self-healing polymeric coating with reduced graphene oxide-reinforcement for sensors

Intrinsic self-healing materials have received significant attention due to the characteristic recovery after damage properties through reversible dynamic covalent and non-covalent interactions. Furthermore, functional recovery with reliable mechanical properties are highly keen as protective coatings, specifically for devices and sensors vulnerable to abrasion in severe environments. Here, we pre

Association of lipid-lowering drugs with COVID-19 outcomes from a Mendelian randomization study

Background: Lipid metabolism plays an important role in viral infections. We aimed to assess the causal effect of lipid-lowering drugs (HMGCR inhibitiors, PCSK9 inhibitiors and NPC1L1 inhibitior) on COVID-19 outcomes using 2-sample Mendelian Randomization (MR) study.Methods: We used two kinds of genetic instruments to proxy the exposure of lipid-lowering drugs, including eQTLs of drugs target gene