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Genetics as a science has roots in studying phenotypes of relatives, but molecular approaches facilitate direct measurements of genomic variation between individuals. Agricultural and human biomedical research are both emphasizing genotype-based instruments, such as polygenic scores, but unlike in agriculture, there is an emerging consensus that family variables act nearly independently of genotyp
The stable isotope ratios of carbon (δ13C(CH4)) and hydrogen (δ2H(CH4)) in methane (CH4) from atmospheric air samples provide a tracer that can help distinguish the relative contribution of emission sources. These can be continuously measured at atmospheric monitoring stations by optical isotope ratio spectrometer (OIRS) instruments, providing data that is complementary to isotope ratio mass spect
AimTo explore the meaning of lived experiences of women with a hereditary risk of breast cancer who participate in surveillance of their breasts with magnetic resonance imaging.DesignHermeneutic phenomenology.MethodsInterviews on two occasions were made with 14 women in the surveillance programme. The verbatim transcripts were analysed according to van Manen. The analysis was an insightful iterati
Background: Chronic pain in children can significantly impact daily functioning. While interdisciplinary pain rehabilitation is the recommended treatment, it is resource-intensive and limited in availability. Therefore, children with more complex symptoms, classified as High Impact Chronic Pain (HICP), need to be prioritized for interdisciplinary pain rehabilitation. However, HICP in children has
Epigenome-wide studies of pancreatic islets provide valuable insights into type 2 diabetes (T2D) but lack methylomes from individual cell types. Here we show changes to alpha and beta cell-specific methylomes and transcriptomes from people with or without T2D, using whole-genome bisulfite sequencing and RNA sequencing. We discover 22,544 differentially methylated regions annotated to 7,975 genes i
The capacity for birds to adjust their breeding time to variation in spring temperature via plasticity is crucial for insectivorous passerines in temperate areas, particularly in a context of climate disruptions. Recent studies suggested that phenological plasticity varies in response to environmental change via urbanization. We investigated the effects of urbanization on laying date, its phenotyp
Background Insulin resistance is common in adults with obstructive sleep apnoea (OSA), yet the extent to which longitudinal metabolic improvement is driven by OSA phenotype, continuous positive airway pressure (CPAP) treatment, or changes in body weight remains unclear. We examined 1-year changes in insulin resistance across OSA and non-OSA subgroups in the non-diabetic RICCADSA cohort. Methods In
Soluble growth stimulation protein form of interleukin-1 receptor-like 1 (ST2) may signal myocardial stress, and elevated ST2 blood levels are associated with adverse outcomes in adult heart disease. Data on ST2 in children with congenital heart disease (CHD) is limited. This study explored ST2 in newborns and older children with atrial septal defect (ASD), as this represents a common CHD type tha
Genetic mutations associated with brain malformations can lead to a spectrum of severity and it is often difficult to determine whether there are additional pathogenic variants contributing to the phenotype. Here, we present a family affected by a severe brain malformation including bilateral polymicrogyria, hydrocephalus, patchy white matter signal changes, and cerebellar and pontine hypoplasia w
Protein S functions as a cofactor for tissue factor pathway inhibitor (TFPI) and activated protein C (APC). The sex hormone binding globulin (SHBG)-like region of protein S, consisting of two laminin G-like domains (LG1 and LG2), contains the binding site for C4b-binding protein (C4BP) and TFPI. Furthermore, the LG-domains are essential for the TFPI-cofactor function and for expression of full APC
In terrestrial ecosystems, the largest pool of amorphous silica (ASi) is stored in soils and is an important reservoir of biologically active Si for the global biogeochemical cycling of Si. Only limited data are available that quantify the size of this reservoir and often these estimates are made from the physical separation of silt-sized phytoliths, which can underestimate the ASi pool. Soil samp
Background: The Ethiopian epidemic is currently on the wane. However, the situation for infected children is in some ways lagging behind due to low treatment coverage and deficient prevention of mother-to-child transmission. Too few studies have examined HIV infected children presenting to care in low-income countries in general. Considering the presence of local variations in the nature of the ep
The photo-physics and -chemistry of indoles are known to be highly complex and strongly dependent on their precise molecular structure and environment. Combination of spectroscopic analysis with quantum chemical calculations should be a powerful tool to unravel precise excited state deactivation mechanisms. At the same time, combined studies are seldom and likely far from trivial. In this work we
Background: Total hip joint replacement (THR) is a high volume, effective intervention for hip osteoarthritis (OA). However, indications and determinants of outcome remain unclear. The 'EUROHIP consortium' has undertaken a cohort study to investigate these questions. This paper describes the variations in disease severity in this cohort and the relationships between clinical and radiographic sever
Background-beta-Adrenergic stimulation is the main trigger for cardiac events in type 1 long-QT syndrome (LQT1). We evaluated a possible association between ion channel response to beta-adrenergic stimulation and clinical response to beta-blocker therapy according to mutation location. Methods and Results-The study sample comprised 860 patients with genetically confirmed mutations in the KCNQ1 cha
Measurement of haemoglobin (Hb) adducts from acrylamide (AA) and its metabolite glycidamide (GA) is a possibility to improve the exposure assessment in epidemiological studies of AA intake from food. This study aims to clarify the reliability of Hb-adduct measurement from individual single samples for exposure assessment of dietary AA intake. The intra-individual variations of AA- and GA-adduct le
Popular Abstract in Swedish Varje år insjuknar omkring 300 barn i cancer. Förbättrade behandlingsmetoder under de senaste decennierna har lett till att mer än tre av fyra barn idag faktiskt botas från sin sjukdom. Tyvärr drabbas en stor andel av de som överlever sin cancer av så kallade sena komplikationer till följd av den tuffa behandling de har utsatts för. Bland annat har man sett en livslång The etiology of childhood cancer is largely unknown. Approximately 1-10% of all childhood tumors are associated with known cancer predisposition syndromes. However, the contribution may be underestimated due to the failure to detect patients with genetic susceptibility for cancer when relying on known family pattern and anomalies. Growing evidence indicates that patients with genetic susceptibilit
The genetic background may influence methylmercury (MeHg) metabolism and neurotoxicity. ATP binding cassette (ABC) transporters actively transport various xenobiotics across biological membranes.
