Purpose: To describe genotype and phenotype in a family with autosomal recessive retinitis pigmentosa (arRP) carrying homozygous mutations in the gene for the α-subunit of cyclic guanosine monophosphate (cGMP)-hydrolyzing phosphodiesterase 6 (PDE6A). Moreover, to compare their plasma cGMP levels to controls, exploring the possible role for cGMP in RP diagnostics.Methods: Seven siblings and their p

A variety of factors have been identified as being risk factors for suicidal behaviour. One of them is the handling of stressful events. The aim of the present study was to investigate the coping-strategies used by suicide attempters and comparison groups. 37 pa- tients who had recently made a suicide attempt, 38 suicide attempters at follow up, 20 psychiatric follow up controls, and 19 healthy co

Skogar tillhandahåller en mångfald av produkter och tjänster som alla är kopplade till vattenresurser. Träd behöver vatten för att växa och samtidigt förändrar träd kvalitén och kvantiteten av avrinningen genom modifiering av vatten- och näringsämneskretsloppet. Förståelsen av samspelet mellan skog och vatten är grundläggande för att kunna utvärdera konsekvenserna av naturlig och antropogen påverkForests provide multiple products and services which are all are linked to water resources. Trees need water to grow and, at the same time, they change the quality and the quantity of runoff by modifying water and nutrient cycling. The understanding of the interactions between forest and water is fundamental to assess the consequences of natural and anthropogenic pressures, such as climate change

Solar modulated variations in cosmogenic radionuclide production provide both information on past changes in the activity of the Sun and a global synchronization tool. However, to date the use of cosmogenic radionuclides for these applications is almost exclusively based on 10Be records from ice cores and 14C time-series from tree rings, all including archive-specific limitations. We present the f

Frog breeding phenology in temperate zones is usually compared to progress of spring temperatures at a regional scale. However, local populations may differ substantially in phenology. To understand this, local climate and other aspects must be studied. In this study, breeding phenology of the common frog, Rana temporaria, in a set of ponds in southern Sweden is analyzed. There was within year a v

This paper argues that innovation diffusion is not a rational implementation process, but more accurately portrayed as a highly social process, involving sets of intermediate organizations that contribute to a product’s reputation. Empirically it builds on two case studies, one cultural and one science-based, to demonstrate there are industry differences in where innovations get validated: validat

This thesis contributes to the empirical energy finance literature and consists of three research papers. The common denominator for all papers is the multivariate modelling approach, placing the electricity market at the core and delving into its interdependencies on fundamentally related markets and factors.In the first paper, we focus on the multivariate modelling of the return series of electr

BACKGROUND: Prostate-specific antigen (PSA) screening and concomitant treatment can be implemented in several ways. The authors investigated how the net benefit of PSA screening varies between common practice versus “good practice.”. METHODS: Microsimulation screening analysis (MISCAN) was used to evaluate the effect on quality-adjusted life-years (QALYs) if 4 recommendations were followed: limite