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Anaemia is a chief determinant of global ill health, contributing to cognitive impairment, growth retardation and impaired physical capacity. To understand further the genetic factors influencing red blood cells, we carried out a genome-wide association study of haemoglobin concentration and related parameters in up to 135,367 individuals. Here we identify 75 independent genetic loci associated wi
Introduction: Respiratory allergic disorders like rhinitis and asthma are common conditions that not only affect target organs, but complicate the daily life of affected children and adolescents. Objectives: The aim of this study was to investigate the QoL (Quality of Life) in children with grass pollen allergy in and out of grass pollen season. Methods: We used the Pediatric Allergic Disea
Ependymal cells in the lateral ventricular wall are considered to be post-mitotic but can give rise to neuroblasts and astrocytes after stroke in adult mice due to insult-induced suppression of Notch signaling. The transcription factor FoxJ1, which has been used to characterize mouse ependymal cells, is also expressed by a subset of astrocytes. Cells expressing FoxJ1, which drives the expression o
The pathogenesis of diabetic retinopathy (DR) remains unclear but hyperglycemia is an established risk factor. Endothelial dysfunction and changes in Ca(2+) signaling have been shown to precede the onset of DR. We recently demonstrated that high extracellular glucose activates the Ca(2+)/calcineurin-dependent transcription factor NFAT in cerebral arteries and aorta, promoting the expression of inf
Variation in transcription factor 7-like 2 (TCF7L2), the strongest genetic risk factor for type 2 diabetes (T2D), may play a role in prostate cancer (PCa) depending on lifestyle factors. The aims of this study were to determine if TCF7L2 rs7903146 is associated with risk of PCa and if the association is modified by lifestyle factors independently of T2D status.
We investigated insulin action (insulin sensitivity index, ISI) and insulin secretion (oral disposition indices, DIo) and studied metabolic, demographic and lifestyle-related risk factors for type 2 diabetes and insulin action, in the largest non-European immigrant group to Sweden, immigrants from Iraq and native Swedes.
Mesenchymal stromal cells (MSC) are multipotent cells that can be isolated from a number of human tissues. In cancer, MSC have been implicated with tumor growth, invasion, metastasis, drug resistance and were even suggested as possible tumor-initiating cells in osteosarcoma (OS). However, MSC from OS and their possible tumor origin have not yet been thoroughly investigated. Therefore, primary OS m
Measurements of the prostate-specific antigen (PSA) levels in blood are widely used as diagnostic, predictive and prognostic marker of prostate disease. The selective detection of molecular forms of PSA can contribute clinically to meaningful enhancements of the conventional PSA-test. As it is plausible that an in-depth search for structural variants of PSA gene products may increase our ability t
Background Plasma triglyceride levels are heritable and are correlated with the risk of coronary heart disease. Sequencing of the protein-coding regions of the human genome (the exome) has the potential to identify rare mutations that have a large effect on phenotype. Methods We sequenced the protein-coding regions of 18,666 genes in each of 3734 participants of European or African ancestry in the
We have previously shown that following severe brain insults, chronic inflammation induced by lipopolysaccharide (LPS) injection, and status epilepticus, new dentate granule cells exhibit changes of excitatory and inhibitory synaptic drive indicating that they may mitigate the abnormal brain function. Major inflammatory changes in the environment encountering the new neurons were a common feature
This work shows a contribution to a long-term study of lead in smelter workers where the objectives were to assess the historical lead (Pb) exposure and to study the relationships between lead concentrations in finger bone (Bone-Pb), whole blood (B-Pb), plasma (P-Pb), urine (U-Pb) and the duration of employment in workers at a secondary lead smelter. Moreover, results were compared with previous s
Event är korta tidsintervall som skiljer längre episoder med stabila oceaniska förhållanden från varandra. När cirkulationen i världshaven tillfälligt stängs av under ett event förändras fauna- och bergartssammansättningen, och även isotopförhållandena. Målet med detta arbete har varit att utröna hur de sensiluriska brachiopoderna reagerade på det globalt kända Lau Event. På Gotland omfattar det lThe impact of the Ludfordian Lau Primo-Secundo Event on brachiopods from Gotland has been investigated. About 12 000 individuals were identified from five samples. The results are supplemented by an extensive literature study. On Gotland, the Lau Event spans the Botvide Mbr (uppermost När Fm, upper Hemse Group) and the Eke Fm. It caused extinctions, faunal, sedimentary and isotopic changes. Conodo
In the beginning of the 1990’s community service was introduced at a couple of Swedish courts as an experiment. It was to be a compliment to probation and together the two were supposed to be considered the equivalent in harshness of a shorter prison sentence. After a few years the experiment was extended to all Swedish courts and by the end of the decade community service was made a permanent par
Background SLE is a systemic autoimmune disease with a large number of common risk gene variants, but several rare gene variants can cause monogenic SLE. The relationship between common and rare variants in SLE is unclear. We therefore investigated the occurrence of rare deleterious variants in patients with childhood-onset SLE (cSLE) and adult-onset SLE (aSLE) and compared the frequency of these
Background: Late effects of polio (LEoP) are defined as new symptoms, for example, muscle weakness, fatigue, and pain, occurring many years after an acute polio infection. These impairments can lead to difficulties performing everyday activities (ie, activity limitations) that can reduce a person's ability to take part in society (ie, perceived participation restrictions). Yet, no study has explor
Objectives: To assess level of degeneration in human knee cartilage and meniscus in donors without clinically-evident knee arthritis, in relation to age and sex. Further, to investigate the association between cartilage and meniscus degeneration. Design: Histological sections of knee cartilage and meniscus from 44 deceased donors (ages 18–85 years) without clinically-evident osteoarthritis or infl
This thesis investigates particle sorting in deterministic lateral displacement (DLD) microfluidic devices, with a focus on how particle size and shape influence sorting behavior. A broad range of synthetic and biological particles were studied, including polystyrene particles, fabricated silicon-based structures, and bacterial samples with diverse physical properties.While DLD has traditionally b
We have previously found using questionnaire/interview data on COVID-19 outcomes, that most subjects with severe alpha-1-antitrypsin deficiency (AATD) exhibit mild COVID-19 infection and those who additionally have COPD are at increased risk of severe COVID-19. We used objective information on COVID-19 outcomes in severe AATD (PiZZ) from the Swedish population and compared the risk of severe COVID
Wetting and dewetting dynamics in aqueous solutions containing amphiphilic compounds involve intricate interactions that influence contact angles and surface tension, with broad implications in materials science and biology. This study explores the dynamics of wetting and dewetting on glass surfaces in aqueous media containing the amphiphilic compound C18OE84, focusing on capillary rise behavior.
Disruptions in gut microbiome are implicated in cardiometabolic disorders and other health outcomes. Antibiotics are known gut microbiome disruptors, but their long-term consequences remain underexplored. Here we combined individual-level data from the Swedish Prescribed Drug Register with fecal metagenomes of 14,979 adults to examine the association between oral antibiotic use over 8 years and gu
