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Gene mutations and inhibitor formation in patients with hemophilia B

The nature of the mutation in the factor IX gene is an important factor in determining whether a patient with hemophilia B will develop an inhibitor. In a series of 62 Swedish families with hemophilia B, including 30 with the severe form, approximately one third of the families exhibiting deletions or nonsense mutations contained one member who developed an inhibitor. The risk for inhibitor develo

Haemoglobin Koln as de novo mutations in Sweden : Diagnosis by PCR and specific enzymatic cleavage

Three independent cases of chronic haemolytic anaemia in Sweden have recently been demonstrated to be due to the unstable haemoglobin variant Hb Koln. The patients, all of whom have partially compensated chronic haemolytic anaemia, presented with aggravated haemolysis during acute infections in childhood. In one case, acute B19 parvovirus infection induced an aplastic crisis. The substitutions all

InAs/GaSb vertical nanowire TFETs on Si for digital and analogue applications

Vertical InAs/GaSb nanowire TFETs with diameters of 20 nm and 25 nm have been fabricated and characterized. The influence of diameter, gate-placement, and nanowire numbers have been studied. The best device shows a subthreshold swing of 68 mV/dec at VDS = 0.3 V and 26 μA/μm at VDS = 0.3 V and VGS = 0.5 V. It achieves a self-gain larger than 100 with high transconductance efficiency.

Labor pains in the early days of the Nobel Committee for Chemistry

Human activities have been marred for ages by conflicts of interest. This is no less true in the field of science. In the early years of the Nobel Prizes, little attention was focused on this aspect, but awareness steadily grew. In particular, this concerned Swedes nominated for Nobel Prizes, who were most likely themselves members of the Royal Swedish Academy of Sciences, but whose fellows at the

Ideology, politics and war violence as sources of forced migrations

The symbolic order of discourse of ideology actually enables the existence and reproduction of violence. Mass crimes on civilians may become normalized and widely accepted if perpetrators of violence who exert violence and those who implicitly and explicitly support it believe that exertion of violence on others is justified by belief in some symbolic higher order. Many current examples of justifi

Aldehyde dehydrogenase and estrogen receptor define a hierarchy of cellular differentiation in the normal human mammary epithelium

INTRODUCTION: Although estrogen and progesterone play a key role in normal mammary development and in breast cancer, the potential for proliferation and lineage differentiation as well as origin of cells that express the estrogen receptor (ER) in normal breast epithelium are not known. Some evidence suggests that normal human mammary stem/progenitor cells are ER-, but the identity of these cells a

Disparities in pharmacotherapy for alcohol use disorder in the context of universal health care : A Swedish register study

Background and aims: Pharmacotherapy can be an important part of the continuum of care for alcohol use disorder (AUD). The Swedish universal health-care system emphasizes provision of care to marginalized groups. The primary aim was to test associations of neighborhood deprivation and disadvantaged social status with receipt of AUD pharmacotherapy in this context. Design: Data from linked populati

Sulfur isotope signatures for rapid colonization of an impact crater by thermophilic microbes

In the 23-km-diameter Haughton impact structure, Canadian High Arctic, in sulfate-rich bedrock, widespread hydrothermal sulfide mineralization occurred in breccias formed during the impact. The sulfides exhibit extreme sulfur isotopic fractionation relative to the original sulfate, requiring microbial sulfate reduction by thermophiles throughout the crater. This evidence of widespread microbial ac

Rapid heating of carbonaceous matter by igneous intrusions in carbon-rich shale, Isle of Skye, Scotland : An analogue for heating of carbon in impact craters?

The response of organic matter to high-temperature events is important to astrobiology, as it governs the survival of carbon during several processes that may be critical to the origin and spread of life. Impact cratering is a widespread high-temperature process. The behaviour of carbon during impact events is not well understood. But there is the potential to examine other examples of the respons

Petrographic criteria for fluid mobility of graphitic carbon in terrestrial and extraterrestrial samples

Graphitic carbon is a widespread precipitate in terrestrial and extraterrestrial samples. However it has a range of possible origins, which can be difficult to distinguish, including the in situ alteration of organic matter, thermal alteration of hydrocarbons, and precipitation from C-O-H fluids. Petrographic characteristics help to understand the origin of the graphite, including relationships wi

At the Cross Section of Thrombotic Microangiopathy and Atypical Hemolytic Uremic Syndrome : A Narrative Review of Differential Diagnostics and a Problematization of Nomenclature

Complement-mediated atypical hemolytic uremic syndrome (aHUS) is a rare disease associated with high mortality and morbidity. Renal biopsies often indicate thrombotic microangiopathy (TMA). The condition is caused by an excessive activation of the alternative pathway leading to depositions of membrane attack complexes (MAC) on host cells. It may depend on mutations in complement components and reg

Stakeholder involvement in strategic adaptation planning : Transdisciplinarity and co-production at stake?

To address increasing climatic variability and extremes, cities are gradually forced to develop climate change adaptation strategies that can ensure a continuous and transformative adaptation process. There is widespread consensus that the sustainable establishment of such strategies requires transdisciplinary approaches, that is, the involvement of internal and external stakeholders (state, civil

Fumarate decreases edema volume and improves functional outcome after experimental stroke

Background Oxidative stress and inflammation exacerbate tissue damage in the brain after ischemic stroke. Dimethyl-fumarate (DMF) and its metabolite monomethyl-fumarate (MMF) are known to stimulate anti-oxidant pathways and modulate inflammatory responses. Considering these dual effects of fumarates, we examined the effect of MMF treatment after ischemic stroke in mice. Methods Permanent middle ce

Sampling of State Space Systems with Several Time Delays

This article solves the problem of how to obtain a zero-order hold sampled version of a state space system containing several time delays at arbitrary positions. No assumption is made on commensurability of the time delays. It is shown that the condition for obtaining a finite dimensional sampled system for all sampling periods is that there are 'no signal loops' around any of the time delays. A s

Resting-state fMRI correlations : From link-wise unreliability to whole brain stability

The functional architecture of spontaneous BOLD fluctuations has been characterized in detail by numerous studies, demonstrating its potential relevance as a biomarker. However, the systematic investigation of its consistency is still in its infancy. Here, we analyze within- and between-subject variability and test-retest reliability of resting-state functional connectivity (FC) in a unique data s

Prophylactic infusion regimens in the management of hemophilia

To summarize, prophylactic treatment of hemophilia begun at an early age has been gaining acceptance as the optimal therapeutic option in an increasing number of hemophilia centers in the developed world in recent years. In all too many parts of the world, however, this option must be viewed as a long-range goal in hemophilia care, since national economic resources are insufficient for regular pro

A demonstration of an affinity between pyrite and organic matter in a hydrothermal setting

One of the key-principles of the iron-sulphur world theory is to bring organic molecules close enough to interact with each other, using the surface of pyrite as a substrate in a hydrothermal setting. The present paper explores the relationship of pyrite and organic matter in a hydrothermal setting from the geological record; in hydrothermal calcite veins from Carboniferous limestones in central I