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Germline mutations in the tumour suppressor gene CDKN2A occur in 5-20% of familial melanoma cases. A single founder mutation, p.Arg112dup, accounts for the majority of CDKN2A mutations in Swedish carriers. In a national program, carriers of p.Arg112dup mutation have been identified. The aim of this study was to assess cancer risks in p.Arg112dup carriers and their first degree relatives (FDRs) and
The public health impact of population-based mammography screening programs depends on high participation rates. Thus, monitoring participation rates, as well as understanding and considering the factors influencing attendance, is important. With the goal to acquire information on the appropriate level of intervention for increasing screening participation our study aimed to (1) examine whether, o
Popular Abstract in Swedish Dagens vårdsystem står inför många stora utmaningar. Många av dem är relaterade till komplexa vårdbehov hos den allt större andelen sköra äldre personer. Denna andel ökar samtidigt som många vårdorganisationer har krav på sig att minska kostnaderna. Dessa äldre personer har ofta flera sjukdomar samtidigt och de har vanligtvis kontakter med många olika vårdgivare, på fleThe overall aim of this thesis was to investigate healthcare utilisation patterns and to explore the effects of a case management intervention for frail older people on healthcare utilisation and costs in relation to utility. A further aim was to explore the older people’s and case managers’ experiences of the intervention. Study I was a quantitative study comprising ten age cohorts aged between 6
In this paper, we extend the one-dimensional Capon-based magnitude square coherence (MSC) spectral estimator, to form two-dimensional Capon- and APES-based MSC spectral estimators. The resulting estimators are found to yield significantly improved estimates as compared to the typical Welch-based estimator. Furthermore, we introduce a computationally efficient time-updating of the presented MSC est
Background: Allergy and asthma are closely linked. Inhalation of allergen induces an early allergic response (EAR) within the airways of allergic asthmatic subjects, which is followed by a late allergic response (LAR) in approximately 50% of the subjects. The LAR is defined as a drop in forced expiratory volume in 1 second (FEV1) from baseline usually occurring 4-8 hours after exposure and is beli
Background: Exposure to airborne particles has a major impact on global health. The probability of these particles to deposit in the respiratory tract during breathing is essential for their toxic effects. Observations have shown that there is a substantial variability in deposition between subjects, not only due to respiratory diseases, but also among individuals with healthy lungs. The factors d
The tremendous increases in production of plastic materials has led to an accumulation of plastic pollution worldwide. Many studies have addressed the physical effects of large-sized plastics on organisms, whereas few have focused on plastic nanoparticles, despite their distinct chemical, physical and mechanical properties. Hence our understanding of their effects on ecosystem function, behaviour
BACKGROUND The association between neighborhood deprivation and mortality is well established, but knowledge about whether deprivation is best assessed regionally or nationally is scarce. OBJECTIVE The present study aims to examine whether there is a difference in results when using national and county-specific neighborhood deprivation indices and whether the level of urbanization modifies the ass
A hallmark of adult hematopoiesis is the continuous replacement of blood cells with limited lifespans. While active hematopoietic stem cell (HSC) contribution to multilineage hematopoiesis is the foundation of clinical HSC transplantation, recent reports have questioned the physiological contribution of HSCs to normal/steady-state adult hematopoiesis. Here, we use inducible lineage tracing from ge
We herein outline the rationale for a Swedish cohort consortium, aiming to facilitate greater use of Swedish cohorts for world-class research. Coordination of all Swedish prospective population-based cohorts in a common infrastructure would enable more precise research findings and facilitate research on rare exposures and outcomes, leading to better utilization of study participants’ data, better
BACKGROUND: Although rare in the general population, highly penetrant germline mutations in CDKN2A are responsible for 5-40% of melanoma cases reported in melanoma-prone families. We sought to determine whether MELPREDICT was generalizable to a global series of melanoma families and whether performance improvements can be achieved.METHODS: 2,116 familial melanoma cases were ascertained by the inte
Inverse problems are important in quantum mechanics and involve such questions as finding which potential give a certain spectrum or which arrangement of atoms give certain properties to a molecule or solid. Inverse problems are typically very hard to solve and tend to be very compute intense. We here show that neural networks can easily solve inverse problems in quantum mechanics. It is known tha
Background: Approximately 180 mothers are treated in Swedish Intensive Care Units (ICU) due to preeclampsia each year. Although several clinical risk factors are known, prediction of critical disease is challenging. Two scavenger proteins, hemopexin (Hpx) and alpha-1-microglobulin (A1M) have been suggested to be associated with the oxidative stress seen in preeclampsia. The ratio of two other biom
Selective Serotonin Reuptake Inhibitors (SSRIs) may hold therapeutic benefits for people with Alzheimer’s disease (AD). SSRIs may perturb AD progression, or the conversion from MCI to AD, via increased neurogenesis, reduced oxidative stress and/or favourable Amyloid-β Precursor Protein (AβPP) processing. This study used iPSC derived cortical neuronal cells carrying 3 different PSEN1 mutations, to
The composition and carbon nanostructure of soot are important parameters influencing health and climate effects, and the efficacy of soot mitigation technologies. We used laser-vaporization, electron-ionization aerosol mass spectrometry (or SP-AMS) to systematically investigate relationships between aerosol mass spectra, carbon nanostructure (HRTEM), and composition (thermal-optical carbon analys
Background: Circulating biomarkers can facilitate diagnosis and risk stratification for complex conditions such as heart failure (HF). Newer molecular platforms can accelerate biomarker discovery, but they require significant resources for data and sample acquisition. Objectives: The purpose of this study was to test a pragmatic biomarker discovery strategy integrating automated clinical biobanki
Background: To assess whether a prespecified statistical model based on the four kallikrein markers measured in blood—total, free, and intact prostate-specific antigen (PSA), together with human kallikrein-related peptidase 2 (hK2)—or any individual marker measured in pretreatment serum were associated with biochemical recurrence-free (BCR) or metastasis-free survival after radical prostatectomy (
Background: In atopic asthma, chronic Th2-biased inflammation is associated with an increased risk of pneumococcal infection. The anionic phosphoglycoprotein osteopontin (OPN) is highly expressed in asthma and has been ascribed several roles during inflammation. This study aimed to investigate whether OPN affects inflammation and vulnerability to pneumococcal infection in atopic asthma. Methods: H
