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Functional characterisation of mutations in the ligand-binding domain of the androgen receptor gene in patients with androgen insensitivity syndrome

Five mutations in the ligand-binding domain of the androgen receptor gene were identified in patients with complete (A765T, C784Y, R831X and M895T) or partial (R830G) androgen insensitivity, A765T and R831X have been reported previously whereas the other three mutations are novel. Receptors carrying these mutations were transiently expressed in COS-1 cells, and androgen binding and capacity to tra

The N680S variant in the follicle-stimulating hormone receptor gene identifies hyperresponders to controlled ovarian stimulation

OBJECTIVE: To study if the follicle-stimulating hormone receptor (FSHR) variant asparagine/serine in amino acid 680 (N680S) can predict hypersensitivity to gonadotropins in women undergoing assisted reproduction.PATIENTS AND METHODS: In this retrospective study, 586 women undergoing their first in-vitro fertilisation treatment were enroled, and their FSHR N680S genetic variant was analysed. The ma

Novel roles of complement in systemic lupus erythematosus - Hypothesis for a pathogenetic vicious circle

We propose that impaired complement function enhances a pathogenetic vicious circle in SLE. In this process, induction and clearance of apoptotic cells is central. Apoptosis could be triggered by various etiological factors, such as infection, UV light, and drug reactions. Clearance of apoptotic material is reduced when complement function is impaired. Apoptosis leads to increased exposure of nucl

Selective antibody reactivity with peptides from human endogenous retroviruses and nonviral poly(amino acids) in patients with systemic lupus erythematosus

Objective. To investigate antibody responses to a broad panel of peptides derived from human endogenous retroviruses (HERVs) among unselected patients with systemic lupus erythematosus (SLE). Methods. In sera obtained from 69 patients with SLE and healthy blood donors, immunoassay was used to measure levels of antibody against synthetic peptides derived from HERVs, exogenous retroviruses, and nonv

MetaDL: Analysing Datalog in Datalog

Datalog has emerged as a powerful tool for expressing staticprogram analyses. Program analysis researchers have builtnontrivial code bases in Datalog, but tool support for workingwith Datalog itself has been lacking. In this paper, weintroduce MetaDL, a language extension to Datalog thatenables source-level Datalog program analysis within Datalog.We describe several program analyses implemented in

Editor's Choice-Is the pre-hospital ECG after out-of-hospital cardiac arrest accurate for the diagnosis of ST-elevation myocardial infarction?

BACKGROUND: Current guidelines recommend that comatose out-of-hospital cardiac arrest patients with ST-segment elevations (STEs) following return of spontaneous circulation (ROSC) should be referred for an acute coronary angiography. We sought to investigate the diagnostic value of the pre-hospital ROSC-ECG in predicting ST-elevation myocardial infarction (STEMI).METHOD: ROSC-ECGs of 145 comatose

Diabetic patients with acute coronary syndromes in contemporary European registries : Characteristics and outcomes

Aims Among patients with acute coronary syndromes (ACS), those with diabetes mellitus (DM) are at particularly high risk of recurrent cardiovascular events and premature death. We aimed to provide a descriptive overview of unadjusted analyses of patient characteristics, ACS management, and outcomes up to 1 year after hospital admission for an ACS/index-ACS event, in patients with DM in contemporar

StanceXplore: Visualization for the Interactive Exploration of Stance in Social Media

The use of interactive visualization techniques in Digital Humanities research can be a useful addition when traditional automated machine learning techniques face difficulties, as is often the case with the exploration of large volumes of dynamic—and in many cases, noisy and conflicting—textual data from social media. Recently, the field of stance analysis has been moving from a predominantly bin

Miraklet Indien och dess baksida

Tio skandinaviska forskare med livslång erfarenhet av studier och forskning om Indien har skrivit originalartiklar kring sina specialområden såsom ekonomi, politik, kvinnofrågor, sociala förhållanden, kultur och religion. Boken söker sig under ytan av gängse Indienbilder och försöker förstå det moderna Indien i ett historiskt perspektiv som en del av en dynamik där också framtiden avtecknar sig.

Det man ser och inte ’ser’ - Indiens miljöutmaningar

Miljön hotas av förgiftning av luft, vatten och jordar. Industriutveckling och gruvdrift förstör miljön, liksom användningen av kol och bensin i de ständigt ökande transporter. Indiens möjligheter att komma till rätta med detta.