Of the 45 haemophilia-B patients registered at the haemophilia centre in Malmo, Sweden, 24 are the sole members of their families to be affected, and in 13 of these 24 cases, ascendant relatives are available for study. Detection of the gene defect showed the mutation to be de novo in the proband in 3 of these 13 cases, and inherited from a carrier mother in the remaining 10 cases. All 10 carrier

The aim of this study was to define the origin of mutation in sporadic cases of severe haemophilia A. The series was composed of 31 families with sporadic severe haemophilia A in the geographical catchment area of the Malmo haemophilia centre. The mutation was characterized in 29/31 families: inversion type 1 (n = 11), inversion type 2 (n = 3), other inversion (n= 1), small or partial deletion (n

Extracellular vesicles (ECVs), including microparticles and exosomes, are submicrometer membrane vesicles released by diverse cell types upon activation or stress. Circulating ECVs are potential reservoirs of disease biomarkers, and the complexity of these vesicles is significantly lower compared to their source, blood plasma, which makes ECV-based biomarker studies more promising. Proteomic profi

We have tried to calculate the free energy for the binding of six small ligands to two variants of the octa-acid deep cavitand host in the SAMPL5 blind challenge. We employed structures minimised with dispersion-corrected density-functional theory with small basis sets and energies were calculated using large basis sets. Solvation energies were calculated with continuum methods and thermostatistic

Will democracy improve the distribution of economic welfare? Do dictatorships leave long-run legacies behind? In this paper we explore four Ibero-American countries with some common historical traits, but also different contexts: Spain, Portugal, Brazil, and Chile. The two Iberian nations suffered long periods of autocratic regime in the 20th Century, while our south American cases had relatively

After the tax reform undertaken in Spain between 1977 and 1986, the practical results in terms of progressivity and redistribution were not outstanding. Inequality did not significantly decrease after the transition to democracy, as political economy literature would suggest. In recent times, the system has shown its incapacity to sustain European-level welfare services. But why?This paper analyse

We propose that moral behaviour of artificial agents could (and should) be intrinsically grounded in their own sensory-motor experiences. Such an ability depends critically on seven types of competencies. First, intrinsic morality should be grounded in the internal values of the robot arising from its physiology and embodiment. Second, the moral principles of robots should develop through their in

Spaces in the brain can refer either to psychological spaces, which are derived from similarity judgments, or to neurocognitive spaces, which are based on the activities of neural structures. We want to show how psychological spaces naturally emerge from the underlying neural spaces by dimension reductions that preserve similarity structures and the relevant categorizations. Some neuronal represen

BackgroundThe magnitude of multimodal enhancement in the brain is believed to depend on the stimulus intensity and timing. Such an effect has been found in many species, but has not been previously investigated in insects.ResultsWe investigated the responses to multimodal stimuli consisting of an odour and a colour in the antennal lobe and mushroom body of the moth Manduca sexta. The mushroom body

We present a system-level connectionist model of pupil control that includes brain regions be- lieved to influence the size of the pupil. These include parts of the sympathetic and parasym- pathetic nervous system together with the hypothalamus, amygdala, locus coeruleus, and the cerebellum. Computer simulations show that the model is able to reproduce a number of important aspects of how the pupi

Raw municipal wastewater from a full-scale wastewater treatment plant was physicochemically pretreated in a large pilot-scale system comprising coagulation, flocculation, microsieve and microfiltration operated in various configurations. The produced microsieve filtrates and microfiltration permeates were then concentrated using forward osmosis (FO). Aquaporin InsideTM FO membranes were used for b

Objective: To test whether plasma tau is altered in Alzheimer disease (AD) and whether it is related to changes in cognition, CSF biomarkers of AD pathology (including β-amyloid [Aβ] and tau), brain atrophy, and brain metabolism. Methods: This was a study of plasma tau in prospectively followed patients with AD (n 179), patients with mild cognitive impairment (n 195), and cognitive healthy control

Changes in soil moisture are likely to contribute to future changes in latent heat flux and various characteristics of daily precipitation. Such contributions during the second half of the twenty-first century are assessed using the simulations from the GLACE-CMIP5 experiment, applying a linear regression analysis to determine the magnitude of these contributions. As characteristics of daily preci

Previous studies have suggested that a high intake of sugar-sweetened beverages is positively associated with the risk of a coronary event. However, a few studies have examined the association between sucrose (the most common extrinsic sugar in Sweden) and incident coronary events. The objective of the present study was to examine the associations between sucrose intake and coronary event risk and

In this contribution, a thermodynamically consistent and mathematically canonical modelling framework for the investigation of the cyclic thermomechanical behaviour of Nickel-Titanium shape memory alloy wires is developed. Particular focus is placed on the self-heating of the material subjected to multiple load cycles. The relatively high load rates necessitates the consideration of inertia terms,

Parents react differently after their child is diagnosed with type 1 diabetes, both at onset and longitudinally. The aim of this study was to describe and compare the disease impact on parents, in terms of health-related quality of life (HRQOL), parents’ satisfaction with the care received, and the child´s experience of diabetes-specific family support 2 years after the child’s diagnosis. A furthe

Background: Mild traumatic brain injury (TBI) is associated with substantial costs due to over-triage of patients to computed tomography (CT) scanning, despite validated decision rules. Serum biomarker S100B has shown promise for safely omitting CT scans but the economic impact from clinical use has never been reported. In 2007, S100B was adapted into the existing Scandinavian management guideline

The adiabatic film-cooling effectiveness on a thermal barrier coating surface is investigated numerically. A film-cooling hole with an inclination angle of 35° is placed upstream the deposition configuration. The depositions are arranged on the external wall with three different positions. For no-mist models, the cooling performances downstream the wall are investigated for the blowing ratios of 0