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Soluble triggering receptor expressed on myeloid cells 2 (sTREM2) in cerebrospinal fluid (CSF) has been associated with Alzheimer's disease (AD). TREM2 plays a critical role in microglial activation, survival, and phagocytosis; however, the pathophysiological role of sTREM2 in AD is not well understood. Understanding the role of sTREM2 in AD may reveal new pathological mechanisms and lead to the iSoluble triggering receptor expressed on myeloid cells 2 (sTREM2) in cerebrospinal fluid (CSF) has been associated with Alzheimer's disease (AD). TREM2 plays a critical role in microglial activation, survival, and phagocytosis; however, the pathophysiological role of sTREM2 in AD is not well understood. Understanding the role of sTREM2 in AD may reveal new pathological mechanisms and lead to the i

The common patatin-like phospholipase domain-containing protein 3 (PNPLA3) variant I148M predisposes to nonalcoholic liver disease but not its metabolic sequelae. We compared the handling of labeled polyunsaturated fatty acids (PUFAs) and saturated fatty acids (SFA) in vivo in humans and in cells harboring different PNPLA3 genotypes. In 148M homozygous individuals, triglycerides (TGs) in very low-

Background and Objectives: The risk of cerebral palsy (CP) is high in preterm infants and is often accompanied by additional neurodevelopmental comorbidities. The present study describes lifetime prevalence of CP in a population-based prospective cohort of children born extremely preterm, including the type and severity of CP and other comorbidities (ie, developmental delay and/or cognitive impair

Scope: Body weight responds variably to the intake of dairy foods. Genetic variation may contribute to inter-individual variability in associations between body weight and dairy consumption. Methods and results: A genome-wide interaction study to discover genetic variants that account for variation in BMI in the context of low-fat, high-fat and total dairy intake in cross-sectional analysis was co

We performed a genome-wide association study of total hip replacements, based on variants identified through whole-genome sequencing, which included 4,657 Icelandic patients and 207,514 population controls. We discovered two rare signals that strongly associate with osteoarthritis total hip replacement: a missense variant, c.1141G>C (p.Asp369His), in the COMP gene (allelic frequency = 0.026%, P =

New generation sequencing (NGS) genetic testing is a powerful diagnostic tool and is increasingly used in the clinical workup of patients, especially in unusual presentations or where a positive family history suggests heritable disease. This review addresses the NGS technologies Targeted sequencing (TS), Whole exome sequencing (WES), Whole genome sequencing (WGS), and the use of gene panels or ge

In acute myeloid leukemia (AML) FLT3 internal tandem duplication (ITD) and nucleophosmin 1 (NPM1) mutations provide prognostic information with clinical relevance through choice of treatment, but the effect of age and sex on these molecular markers has not been evaluated. The Swedish AML Registry contains data on FLT3-ITD and NPM1 mutations dating to 2007, and 1570 adult patients younger than 75 y

Introduction Given that in developed countries we spend about 65% of our time in private homes (Brasche et al. 2005), understanding the exposures in homes is of outmost importance. Airborne particle concentrations indoors can be affected by particles of indoor and outdoor origins, as well as physico-chemical processes indoors, outdoor infiltration affected by tightness of the building envelope and

Stimuli-responsive microgels have attracted much interest for their use as vehicles for drug delivery or as the building blocks of adaptive materials. Ionic microgel particles, including popular poly(NIPAM-co-acrylic acid), show strong mechanical responsiveness to many external stimuli, including changes in ionic strength or acidity. In this work, we demonstrate that combining multiple ionic stimu

Previous transcriptome-wide association studies (TWAS) have identified breast cancer risk genes by integrating data from expression quantitative loci and genome-wide association studies (GWAS), but analyses of breast cancer subtype-specific associations have been limited. In this study, we conducted a TWAS using gene expression data from GTEx and summary statistics from the hitherto largest GWAS m

OBJECTIVE: Although the causality of the obesity--hypertension association is established, the potential for prevention is not. We hypothesized that weight gain between early adulthood and mid-life is associated with higher mid-life blood pressure.METHODS: We investigated the hypothesis using a large contemporaneous population-based mid-life cohort of men and women aged 50-64 years. Recalled body

Over the past two decades, there has been a sharp rise in the use of prescription opioids. In several countries, most notably the United States, opioid-related harm has been deemed a public health crisis. As surgeons are among the most prolific prescribers of opioids, growing attention is now being paid to the role that opioids play in surgical care. While opioids may sometimes be necessary to pro

Objective Pacemaker (PM) therapy is effective when syncope is associated with bradycardia, but syncope recurrences and fall injuries after PM implantation may occur. We aimed to survey indications and outcomes of PM implantation, following evaluation of unexplained syncope. Methods Among 1666 consecutive unpaced patients investigated in a tertiary syncope unit by carotid-sinus massage (CSM), head-

Halide perovskites have continued to rise as attractive light absorber materials, mainly driven by their potential wide applications in the fields of solar cells, photodetectors, lasers and others. However, Pb-containing perovskites are poisonous and could cause serious potential problems to our environment. Thus, there is a strong desire to develop lead-free perovskites as environmentally friend

Background. Traditional crash-based analysis of road safety at individual sites has its shortcomings due to low numbers and the random nature of crashes at individual sites and the related statistical issues, as well as the under-reporting of crashes and lack of information on contributing factors and the process preceding crashes. To get around the problem, road safety analysis based on surrogateAbstract Background. Traditional crash-based analysis of road safety at individual sites has its shortcomings due to low numbers and the random nature of crashes at individual sites and the related statistical issues, as well as the under-reporting of crashes and lack of information on contributing factors and the process preceding crashes. To get around the problem, road safety analysis based on

The aim of the work presented in this thesis was to improve the management of infections in immunocompromised patients by studying aspects of diagnostics, epidemiology and nosocomial transmission. Infection and rejection are common complications in lung-transplant patients, and early diagnosis and treatment are important for a positive outcome. In a study of lung-transplant patients it was found t

The optical properties of monolayer molybdenum disulfide (MoS2)/Ag nanoparticle (NP) hybrids and their application to surface catalytic reactions were studied by transmission, photoluminescence (PL) and Raman spectroscopies. The local surface plasmon resonance (LSPR) of Ag nanoparticles was tuned to better match the exciton energy of monolayer MoS2. The PL of the hybrids was enhanced by more than

Infantile malignant osteopetrosis (IMO) is a rare, lethal, autosomal recessive disorder characterized by nonfunctional osteoclasts. More than 50% of the patients have mutations in the TCIRG1 gene, encoding for a subunit of the osteoclast proton pump. The aim of this study was to develop a clinically applicable lentiviral vector expressing TCIRG1 to correct osteoclast function in IMO. Two mammalian