PURPOSE: Gitelman's syndrome (GS) is an inherited autosomal recessive disorder due to loss of function mutations in the SLC12A3 gene encoding the Na-Cl co-transporter (NCCT), the target of thiazide diuretics. The defective function of the NCCT, which normally is expressed in the apical membrane of the distal convolute tubule in the kidney, leads to mild hypotension, hypokalemia, hyperreninemic hyp

Background Systemic lupus erythematosus (SLE) is a clinically heterogeneous disease in which the risk of disease is influenced by complex genetic and environmental contributions. Alleles of HLA-DRB1, IRF5, and STAT4 are established susceptibility genes; there is strong evidence for the existence of additional risk loci. Methods We genotyped more than 500,000 single-nucleotide polymorphisms (SNPs)

Background: Long-term frozen storage may alter the results of prostate-specific antigen (PSA) measurements, mainly because of degradation of free PSA (fPSA) in vitro. We compared the effects of long-term storage on fPSA, total PSA (tPSA), and complexed PSA (cPSA) in serum vs EDTA-plasma samples. Methods: We measured fPSA and tPSA concentrations in matched pairs of archival serum and EDTA-plasma sa

Probiotics have been hypothesized to affect immunologic responses to environmental exposures by supporting healthy gut microbiota and could therefore theoretically be used to prevent the development of type 1 diabetes mellitus (T1DM)-associated islet autoimmunity.

Wennick A, Hallström I, Lindgren B, Bolin K. Attained education and self-assessed health later in life when diagnosed with diabetes in childhood: a population-based study. Background: Previous studies have reported conflicting findings on academic achievement in children with type 1 diabetes, and generally lower self-assessed health status among respondents with diabetes. Objective: Thus, in this

Are there special ways of exerting influence for small states in a complex multi-actor governance system such as the EU? Intergovernmental theories of European integration emphasize great power nota bene the Franco-German axis, but other observers suggest that smaller member states may actually use the EU institutions to their advantage. Based on literature about small states in international rela

In an organization where the safety level is high and incidents and serious accidents are very rare, a steady erosion of safety awareness and protective measures can occur, especially when productive demands rise. Thus, it is important to continuously identify and monitor aspects in the organization that can affect work performance and safety. In an ongoing joint research project between the LFV G