Purine nucleoside phosphorylase (PNP) is an enzyme active in the purine salvage pathway. PNP deficiency caused by autosomal recessive mutations in the PNP gene leads to severe combined immunodeficiency (SCID) and in two thirds of cases also to neurological effects such as developmental delay, ataxia, and motor impairment.PNP deficiency has a poor outcome, and the only curative treatment is allogen

Background: Evidence-based guidelines should in most cases be followed also in the treatment of elderly. Older people are often suboptimally treated with the recommended drugs. Objectives: To describe how well general practitioners adhere to current guidelines in the treatment of elderly with cardiovascular disease and evaluate local education as a tool for improvement. Method: Data was colle

Abstract Objective. The primary aim of this study was to compare the incidence of catheter-associated bacteriuria with a noble metal alloy-coated latex catheter or a non-coated silicone catheter in patients undergoing elective orthopaedic surgery with short-term catheterization. Secondary objectives included identifying risk factors for bacteriuria and catheter-associated urinary tract symptoms. M

We sought to establish the prevalence of lithium-induced end-stage renal disease in two regions of Sweden with 2.7 million inhabitants corresponding to about 30% of the Swedish population. Eighteen patients with lithium-induced end-stage renal disease were identified among the 3369 patients in the general lithium-treated population, representing a sixfold increase in prevalence compared with the g

The purpose of the current paper is to outline how gestures can contribute to the study of some key issues in language development. Specifically, we (1) briefly summarise what is already known about gesture in the domains of first and second language development, and development or changes over the life span more generally; (2) highlight theoretical and empirical issues in these domains where gest

Electric breakdown in transformer oil subjected to a quasi-uniform de electric field has been triggered by a focused laser pulse and prebreakdown discharge phenomena were imaged by the shadowing technique. Extensive data were recorded of the prebreakdown phenomena, such as streamers and gas bubble growth, from the initiation of the laser plasma to the disruptive discharge. The data was used to qua

The report focuses on an evacuation experiment, which was performed within the second work package of the Swedish METRO project. The experiment involved 100 participants, both men and women in the ages 18-66 years, who individually evacuated a smoke-filled rail tunnel of approximately 200 metres length. The main purpose of the experiment was to collect and derive data on human behaviour and moveme