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Background Clinical classification of rare sequence changes identified in the breast cancer susceptibility genes BRCA1 and BRCA2 is essential for appropriate genetic counselling of individuals carrying these variants. We previously showed that variant BRCA1 c.5096G>A p.Arg1699Gln in the BRCA1 transcriptional transactivation domain demonstrated equivocal results from a series of functional assays,
Background: Little is known about how parental gender equality early in their children lives can influence daughters’ decision to use contraceptive pills. Aim:The study aimed at exploring whether maternal working time and paternity leave in Sweden during the first two years of their daughters’ lives is associated with the use of oral contraceptives when they are adolescents or young adults. Materi
PURPOSE. To determine the cellular consequences of retinal detachment in retinoschisin knockout (Rs1-KO) mice, a model for retinoschisin in humans. METHODS. Experimental retinal detachments (RDs) were induced in the right eyes of both Rs1-KO and wild-type (wt) control mice. Immunocytochemistry was performed on retinal tissue at 1, 7, or 28 days after RD with antibodies to anti-GFAP, -neurofilament
Many children and adolescents with hearing impairment struggle to meet school demands. The difficulties can be traced to the characteristics of the hearing impairment, and to adverse consequences on language development, often overlooked in diagnostics and intervention. This thesis investigates the communicative ability of children and adolescents with bilateral sensorineural hearing impairment by
Blood lead concentration (B-Pb), the main biomarker of lead exposure and risk, is curvi-linearily related to exposure. We assessed plasma lead (P-Pb) as a marker for both lead exposure and toxic effects. We examined claims that delta-aminolevulinic acid dehydratase genotype (ALAD) can modify lead toxicity. In 290 lead-exposed and 91 unexposed Chinese workers, we determined P-Pb, B-Pb, urinary lead
Training and communication are essential elements in the implementation of environmental management systems (EMS). This study is based on two main questions: (i) What methods for training and communication will support the implementation of EMS at a university? and, (ii) How did faculty and staff perceive the training and communication activities? The study includes a literature review, a case stu
Background: A breeding colony of IL-10 deficient B6.129P2-Il10(tmICgn/J) mice, kept under conventional conditions, developed an inflammatory bowel-like disease (IBD) with rectal prolapse and blood tinged diarrhoea. No clinical signs of disease were observed at the time of arrival to our animal house. These animals were originally planned to serve as a negative control group in an experimental infe
Falling in old age may have a large impact on daily life. Falls can lead to injuries, reduced mobility and reduced quality of life. The risk of falls increases with age and frailty level. Dizziness is a strong risk factor for falls, and preventing falls and dizziness in older people is essential. The overall aim of this thesis was to investigate risk factors for falls or dizziness and to explore o
Background: HIV-1 is one of the fastest evolving pathogens, and is distinguished by geographic and genetic variants that have been classified into different subtypes and circulating recombinant forms (CRFs). Early in infection the primary coreceptor is CCR5, but during disease course CXCR4-using HIV-1 populations may emerge. This has been correlated with accelerated disease progression in HIV-1 su
Understanding the spatiotemporal distribution of birds is crucial for effective management and conservation of their populations. However, we still have only limited knowledge not only of the wintering destinations of many Iberian breeding migrants but also of aspects as general as the migratory behaviour of the populations of many common avian species that breed in the Iberian highlands. We used
Prediction from time-series data is traditionally accomplished using parametric, or at least structural, methods. For example, after removing trends, arguing that the time-series is an autoregression, and estimating the autoregressive parameters, we may predict future expected values, conditional on the past. In this paper, motivated by long meteorological maximum-temperature time-series, we sugge
The classical pathway complement regulator C4b-binding protein (C4BP) is composed of two polypeptides (alpha- and beta-chains), which form three plasma oligomers with different subunit compositions (alpha(7)beta(1), alpha(7)beta(0), and alpha(6)beta(1)). We show in this article that the C4BP alpha(7)beta(0) isoform (hereafter called C4BP[beta(-)] [C4BP lacking the beta-chain]), overexpressed under
To identify prognostic factors after hepatocellular carcinoma (HCC) recurrence after liver transplantation (LT). We retrospectively reviewed the combined experience at Toronto General Hospital and Hospital Vall d'Hebron managing HCC recurrence after LT (n = 121) between 2000 and 2012. We analyzed prognostic factors by uni- and multi-variate analysis. Median follow-up from LT was 29.5 (range 2-129.
A vast majority of rural dwellings in Ukraine are inefficient from an energy perspective, with a major need for energy-efficient renovations. A lot of these buildings are also having problems with the indoor climate, with poor ventilation combined with indoor combustion of fuel which can cause negative health effects. A large part of Ukrainian households is also suffering from energy poverty which
The brown bears, Ursus arctos L., in the Scandinavian peninsula were distributed in almost all counties before aimed reduction during the 1700-1900s (Swenson et al. 1995). From 1981-2013 the population increased more than five times (Chapron et al. 2014) to about 3000 individuals (Kindberg et al. 2014). The aim of the master thesis was to find the geographical expansion rate in this bear populatio
As Artificial Intelligence (AI) is progressing to take over decision making in different industries, the threat that comes with the use of these systems is also increasing. One major threat is the risk of these systems acting biased, causing discrimination to parts of the population. To tackle the risk of AI systems acting biased it is important to understand how these biases originate in the firs
The presented thesis focuses on dynamics of capital structure decisions of financially constrained and unconstrained firms listed on Stockholm Stock Exchange. It examines the effect of the global financial crisis on the corporate financing decision. The first chapter introduces the topic, discusses its importance and outlines the contribution to the empirical research. The second chapter the relev
The thesis studies the main sustainability challenges of Emmaus Fredriksdal, which is one of the groups of Emmaus International in Sweden. The organisation has its origin in a solidarity movement, which started in Paris after World War II with the purpose to provide support to the homeless and needy. Emmaus Fredriksdal is a young non-profit organisation in change that is becoming particularly acti
