This book is just what we needed to gather the knowledge accumulated on Usher syndrome throughout the past fifteen years. The epidemiology and pathophysiology of the disease are discussed in several chapters. The great importance of an early diagnosis of the disease in affected children in order to provide them with appropriate education and therapeutic choices is suitably emphasized. Present ther

The rd1 (retinal degeneration) mouse retina shows degeneration homologous to a form of retinitis pigmentosa with a rapid loss of rod photoreceptors and deficiency of retinal blood vessels. Due to Pde6brd1 gene mutation, β subunit of phosphodiesterase (PDE) of rd1 retina has an inactive PDE which elevates cGMP and Ca2+ ions level. In vitro retinal explants provide a system close to the in vivo situ

Patientsäkerhetslagen från 2014 säger att patienten ska få sakkunnig och omsorgsfull hälso- och sjukvård som är av god kvalitet och står i överensstämmelse med vetenskap och beprövad erfarenhet. Detta krav är på intet sätt nytt, det har formellt funnits sedan 1890-talet och går att spåra betydligt längre tillbaka i tiden. Formuleringen utgör en klassisk svensk begreppsbildning.Idag hittar vi samma

There has been much interest recently in the relationship between economic conditions and mortality, with some studies showing that mortality is pro-cyclical, while others find the opposite. Some suggest that the aggregation level of analysis (e.g. individual vs. regional) matters. We use both individual and aggregated data on a sample of 20-64 year-old Swedish men from 1993 to 2007. Our results s

During the past few decades, the Swedish spatial planning system has experienced numerous problems and challenges. In particular, there have been changes in legislation and an increased neoliberalisation of planning that gives private actors a larger influence over the planning processes in Sweden. In this article, we analyse these changes through the lenses of collaborative and neoliberal planninDuring the past few decades, the Swedish spatial planning system has experienced numerous problems and challenges. In particular, there have been changes in legislation and an increased neoliberalisation of planning that gives private actors a larger influence over the planning processes in Sweden. In this article, we analyse these changes through the lenses of collaborative and neoliberal plannin

Genetic counselling in Sweden may be traced to the eugenics movementin the early twentieth century. A rudimentary form of what we might call geneticcounselling today was practised within the state governed Medical Board in the1940s and 1950s by the scientific advisor Nils von Hofsten. In the 1950s, Jan ArvidBöök, professor of medical genetics at Uppsala University, realised the importanceof studie

Genetisk rådgivning (vägledning) etablerades inom svensk sjukvård under 1960- och 1970-talet. Samtidigt stärktes föreställningen om individens självbestämmande i reproduktiva frågor, en uppfattning som hade börjat formuleras redan under 1950-talet. I artikeln diskuteras hur den genetiska rådgivningen som tidigare baserats på empiriska riskberäkningar under 1960- och 1970-talet fick en delvis annanGenetic counseling was established within the Swedish healthcare system in the 1960s and 1970s. During this period the idea of individual autonomy, which had been introduced into genetic counseling already in the 1950s, was gradually strengthened. The paper discusses the development of medical knowledge and technologies related to heredity during this period, from empi-rical risk calculations to t

Our presentation builds on a research project on the emergence of medical genetics and genetic counselling in Sweden 1940-1980. During our study, we have been able to track some aspects of biological, or eugenic, citizenship throughout this period.In Sweden, a rudimentary form of genetic counselling can be tracked within the context of state-controlled eugenics, namely in some applications of the Our presentation builds on a research project on the emergence of medical genetics and genetic counselling in Sweden 1940-1980. During our study, we have been able to track some aspects of biological, or eugenic, citizenship throughout this period.In Sweden, a rudimentary form of genetic counselling can be tracked within the context of state-controlled eugenics, namely in some applications of the

Interest in human heredity has a long history in Sweden. In the 1920s the Parliament decided on a State institute for race biology and in the 1930s a sterilization legislation that put eugenics into practice was enacted. During the postwar decades both research and the political-medical practices were successively transformed: medical genetics became established and proclaimed as a new research fiInterest in human heredity has a long history in Sweden. In the 1920s the Parliament decided on a State institute for race biology and in the 1930s a sterilization legislation that put eugenics into practice was enacted. During the postwar decades both research and the political-medical practices were successively transformed: medical genetics became established and proclaimed as a new research fi