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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
Chronic obstructive pulmonary disease (COPD) independently associates with an increased risk of coronary artery disease (CAD), but it has not been fully investigated whether this co-morbidity involves shared pathophysiological mechanisms. To identify potential common pathways across the two diseases, we tested all recently published single nucleotide polymorphisms (SNPs) associated with human lung
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
Background: We previously reported significant associations between genetic variants in insulin receptor substrate 1 (IRS1) and breast cancer risk in women carrying BRCA1 mutations. The objectives of this study were to investigate whether the IRS1 variants modified ovarian cancer risk and were associated with breast cancer risk in a larger cohort of BRCA1 and BRCA2 mutation carriers. Methods: IRS1
The aim of this present study was to examine duration of breastfeeding in relation to the risk of different subgroups of breast cancer. A prospective cohort, The Malmö Diet and Cancer study, including 14092 parous women, were followed during a mean of 10.2 years and a total of 424 incident breast cancers were diagnosed.
Precise regulation of β-cell function is crucial for maintaining blood glucose homeostasis. Pax6 is an essential regulator of β-cell-specific factors like insulin and Glut2. Studies in the developing eye suggest that Pax6 interacts with Mitf to regulate pigment cell differentiation. Here, we show that Mitf, like Pax6, is expressed in all pancreatic endocrine cells during mouse postnatal developmen
Recent findings show that human fibroblasts can be directly programmed into functional neurons without passing via a proliferative stem cell intermediate. These findings open up the possibility of generating subtype-specific neurons of human origin for therapeutic use from fetal cell, from patients themselves, or from matched donors. In this study, we present an improved system for direct neural c
Obesity is globally prevalent and highly heritable, but its underlying genetic factors remain largely elusive. To identify genetic loci for obesity susceptibility, we examined associations between body mass index and similar to 2.8 million SNPs in up to 123,865 individuals with targeted follow up of 42 SNPs in up to 125,931 additional individuals. We confirmed 14 known obesity susceptibility loci
The incretin - glucose-dependent insulinotropic polypeptide (GIP) - and the pro-inflammatory cytokine osteopontin are known to have important roles in the regulation of adipose tissue functions. In this work we show that GIP stimulates lipogenesis and osteopontin expression in primary adipocytes. The GIP-induced increase in osteopontin expression was inhibited by the NFAT (the transcription factor
It is still unclear whether carbohydrate consumption is associated with cardiovascular disease (CVD) risk. Genetic susceptibility might modify the associations between dietary intakes and disease risk.
Background and Purpose-In a genome-wide association study and subsequent case-control studies, the single-nucleotide polymorphism rs12425791 on chromosome 12p13 was reported to be associated with ischemic stroke, but this could not be validated in a recent well-powered study. We therefore investigated whether an association between ischemic stroke and rs12425791 could be detected in 3 different ca
The insulin-like growth factor (IGF) pathway has been implicated as risk modifier in premenopausal breast cancer. In this study, associations between single nucleotide polymorphisms (SNPs) and diplotypes in the IGFBP1 and IGFBP3 genes and circulating IGFBP-3 levels, BRCA family status and breast cancer among women from high-risk breast cancer families were investigated. Nine IGFBP1 and IGFBP3 SNPs
Denna uppsats undersöker hur systemet för ersättning av rättegångskostnader i förvaltningsprocessen förhåller sig till rätten till en rättvis rättegång. Denna uppsats undersöker också vilka möjligheter som finns för att få ersättning för rättegångskostnader i förvaltningsprocessen genom en separat skadeståndsta-lan i allmän domstol. För att svara på frågeställningarna tillämpas rättsdogmatisk metoThis thesis examines the system for reimbursing legal costs in the administra-tive law proceedings and how it relates to the right to a fair trial. It also inves-tigates the possibilities for obtaining reimbursement of legal costs in adminis-trative proceedings through a separate damages claim in a general court. To address the research questions, a legal dogmatic method is applied, with a signif
Ett vattenskyddsområde vad är det egentligen? Jo, runt om i Sverige finns det idag områden med speciella förhållanden som är skapade för att skydda vårt grundvatten. Dessa områden har speciella regler som måste följas. Reglerna är enormt viktiga och reglerar bland annat lantbruken inom dessa områden gällande hantering och användning av kemikalier. Olika dispenser för användningen finns även inom oThis study investigates the relationship between the use of pesticides within Ängelholm Municipality’s largest water protection area and the levels of these substances in the drink-ing water. With a growing population and modern lifestyle, society has developed a de-pendency on continuous food production, which in turn has led to increased use of pesti-cides to ensure stable harvesters. This can h
The construction of heterojunctions between catalysts and cocatalysts is a widely recognized strategy to enhance catalytic activity. The precise placement of cocatalysts is widely understood to optimize charge transfer pathways and catalytic active sites. In this study, we demonstrate that site-selective decoration on an anisotropic catalyst, achieved by modulating solvent polarity and precursor r
In inflammatory bowel disease (IBD) the pathogenetic process is characterized by dysbiosis, increased permeability, translocation, and immune activation. The aim of the present study was to assess the presence of viable bacteria in the blood of patients with IBD and to correlate the findings with clinical characteristics. The study included 28 patients with Crohn’s disease (CD) (median age 38 year
Background and objective: We established prognostic nomograms incorporating prostate-specific membrane antigen (PSMA) positron emission tomography (PET) parameters standardised by Prostate Cancer Molecular Imaging Standardized Evaluation (PROMISE; PPP1). Here, we develop an updated PPP2 risk score from a large international multicentre registry study. Methods: We included 6128 prostate cancer pati
Problem och syfte: Den här uppsatsen skall undersöka några av företeelserna som har betydelse för ett skapande av en europeisk identitet och ett "gemensamt" Europa. Diskussionen om Europa som gemensam institution handlar oftast om ekonomiska svårigheter, sällan diskuteras t.ex. historiska, normativa, och kulturella mellanmänskliga och mellanstatliga dilemman i större sammanhang. Frågan j
Begreppet adaptation to the adverse effects of climate change är relativt nytt in internationell miljörätt. Begreppet adaptation är inte definierat i UNFCCC. Den här uppsatsen analyserar adaptation i ljuset av begreppet reparation i internationell sedvanerätt. Uppsatsen undersöker vad begreppen adaptation och reparation har gemensamt. Kan adaptation i UNFCCC ses som en möjlig utveckling eller förlThe concept of adaptation to the adverse effects of climate change is relatively recent in international environmental law. Adaptation is not defined in the UNFCCC. This paper attempts to address adaptation in the UNFCCC from the perspective of reparation under customary international law. It investigates what the concepts of adaptation and reparation have in common. Could adaptation in the UNFCCC
