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Purpose: To report five novel genetic variants in seven unrelated consanguineous families with achromatopsia (ACHM). Methods: Patients were examined with multimodal retinal imaging and full-field electroretinography (ffERG). Genetic testing was conducted using next-generation sequencing (NGS). Results: Three novel homozygous variants were detected in CNGA3: a missense c.967G > C (p.Ala323Pro) vari
Objective: to ascertain the significant factors that influence women to stop/not stop smoking during pregnancy and the postnatal period. Design: Twenty-four women were interviewed two-three years after delivery with regard to their smoking habits during and after pregnancy. The material was analysed based on a phenomenological approach in order to provide an accurate description of lived experienc
A shift in business thinking from selling products to providing service solutions to customer needs is becoming noticeable. It is driven by increasing competition and the need to identify new profit centres for producers of mature products. This paper identifies a new product group that could be interesting from the product-service system perspective - baby prams. The study presents a new business
The aim of this study is to discuss the production, use, and interpretation of a group of decorative interior textiles during the period 1750–1950 belonging to the County Museum in Halmstad. Questions guiding the investigation are: How did production take place? How were the textiles used in different times and places? How have the textiles been interpreted and what effects have different interpre
The aim was to investigate the influence of age and gender on quality of life (QoL), complaints, and the presence and nature of self-reported diseases in persons aged 75 and older with cancer (n = 150), compared to a matched group without cancer (n = 138). A second aim was to investigate factors associated with poor QoL in people aged 75 and older. QoL was measured with Short Form (SF-12) and Euro
The present study aimed to estimate possible differences in upper body muscular load between male and female house painters performing identical work tasks. Sex-related differences in muscular load may help explain why women, in general, have more musculoskeletal complaints than men. In a laboratory setting, 16 male and 16 female house painters performed nine standardised work tasks common to hous
The aim of this study was to investigate from the perspective of formal carers the care given to people aged 65 and over, who are cared for in their own homes by informal care. Thirty-three district nurses (DNs) and 20 home service assistants in a municipality with 13500 inhabitants (over 65 years old), were interviewed about the location of care recipients and 398 care recipients were located. Mo
OBJECTIVE: Firstly, is the negative psychological effect of obesity also present in the whole population of obese and overweight children? Secondly, what tools could be recommended to measure the psychological effects of obesity? DESIGN: Review. METHODS: Quality of life or self-esteem is often used in evaluating the psychological effects of obesity. Test instruments used have been instruments for
Coagulation factor V (FV) deficiency is characterised by variable bleeding phenotypes and heterogeneous mutations. To add new insights into the FV genotype-phenotype relationship, we characterised the R1698W change in the A3 domain, at the poorly investigated interface with the A2 domain. The FV R1698W mutation was responsible for a markedly reduced expression level (10% of FV-WT) and specific act
OBJECTIVE: People with disabilities find it harder to enter the labour market than people without disabilities and those with a mental illness are, in relation to people with other disabilities, employed at an essentially lower extent. Many are effectively helped by the vocational rehabilitation model Individual Placement and Support (IPS), but there are still many individuals left in undesired un
The Spanish fiscal system underwent profound reforms between 1977 and 1986, in close connection to the transition from dictatorship to democracy. These were meant to bring the country towards the welfare state model of its European neighbours. Some practical results in terms of progressivity and redistribution, however, were not outstanding, and inequality did not significantly decrease after demo
Acute lymphoblastic leukemia (ALL) is the commonest childhood malignancy and is characterized by recurring structural genetic alterations. Previous studies of DNA methylation suggest epigenetic alterations may also be important, but an integrated genome-wide analysis of genetic and epigenetic alterations in ALL has not been performed. We analyzed 137 B-lineage and 30 T-lineage childhood ALL cases
Diversification reduces portfolio risk when assets are imperfectly correlated, yet evidence suggests that correlations rise in turbulent markets and weaken diversification benefits. This thesis examines whether market volatility undermines sector-level diversification in the Nordic equity market and whether any sector remain resilient. Using daily data for ten Nordic sector indices, the analysis a
Objective: The Aim of this study was to investigate older persons experience of nurse-led geriatric clinics. Design: The study was based on a qualitative method. Sample: 12 older persons (75+) were interviewed about their experience of nurse-led geriatric clinics. All participants were Swedish-speaking, varied in age and were patients from five different geriatric clinics within primary healthcare
Digitized workflows are becoming more common in the construction industry where building information modeling, also called BIM, is a common example of this development. The BIM environment enables an unbroken chain of information on a corporate platform. To ensure that the information is correct and that the quality is of sufficient quality, systematic quality controls are carried out. This thesis
The purpose of this thesis is to investigate the needs and preferences of cyclists when it comes to bicycle parking at the residence. Although knowledge of bicycle traffic is growing and the Swedish Transport Administration states that bicycle traffic needs to be emphasized, the importance of bicycle parking is often overlooked, especially in residential areas. This thesis shows that good bicycle
The aim of this essay is to perform a media study of how the identity of” immigrants” is constructed and which discourses about “immigrants” appear in one of the Swedish newspapers, Aftonbladet. With this study, I intend to shed light on how the discourse reflects and affects the broader marginalization in the Swedish society. This research is limited to the time period between January 2015, and D
As online services such as e-commerce and mobile applications keeps growing, the need of optimizing the user experience does as well. By conducting Online Controlled Experiments, companies can get an insight to which features, design choices and implementations that users enjoy the most. This projects explores two areas in relation to Return on Investment (ROI) calculations for Online Controlled E
