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Mutation analysis of SLC7A9 in cystinuria patients in Sweden

Cystinuria is an autosomal recessive disorder characterized by increased urinary excretion of cystine and dibasic amino acids, which cause recurrent stone formation in affected individuals. Three subtypes of cystinuria have been described (type I, II, and III): type I is caused by mutations in the SLC3A1 gene, whereas nontype I (II and III) has been associated with SLC7A9 mutations. Of the 53 pati

Older people in Sweden with various degrees of present quality of life: their health, social support, everyday activities and sense of coherence.

Public health policies in most European countries are concerned with how to keep older people living independently with a qualitatively good life in the community as long as possible. However, knowledge about what may characterise those seemingly 'healthy' older people is sparse. The aim of the study was to investigate the characteristics of a sample of people (75+) reporting various degrees of Qu

On the use of student data in efficiency analysis - Technical efficiency in Swedish upper secondary school

While individual data form the base for much empirical analysis in education, this is not the case for analysis of technical efficiency. In this paper, efficiency is estimated using individual data which is then aggregated to larger groups of students. Using an individual approach to technical efficiency makes it possible to carry out studies on a wide range of student constellations; e.g. entire

Paternal and maternal age as risk factors for psychosis: findings from Denmark, Sweden and Australia

Background: While the association between increased maternal age and congenital disorders has long been recognized, the offspring of older fathers are also at increased risk of congenital disorders related to DNA errors during spermatogenesis. Recent studies have drawn attention to an association between increased paternal age and increased risk of schizophrenia. The aim of the current study was t

Lactase persistence and ovarian carcinoma risk in Finland, Poland and Sweden

Ovarian carcinoma is the fourth most common cause of cancer death in women. The cause and pathogenesis of this disease has remained obscure. Galactose, the hydrolyzing product of the milk sugar lactose, has been hypothesized to be toxic to ovarian epithelial cells and consumption of dairy products and lactase persistence has been suggested to be a risk factor for ovarian carcinoma. In adults, down

Vitamin D receptor 3 ' haplotypes are unequally expressed in primary human bone cells and associated with increased fracture risk: The MrOS study in Sweden and Hong kong

The VDR is a prime candidate gene for osteoporosis. Here, we studied three common VDR haplotypes in relation to bone phenotypes in 5014 participants of the global MrOS Study. We also studied the relative expression of the haplotypes in human bone cells. One haplotype was associated with increased fracture risk and differently expressed in primary human bone cells. Introduction: Vitamin D plays an