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Diagnosis of immunodeficiency caused by a purine nucleoside phosphorylase defect by using tandem mass spectrometry on dried blood spots.

Purine nucleoside phosphorylase (PNP) deficiency is a rare form of autosomal recessive combined primary immunodeficiency caused by a enzyme defect leading to the accumulation of inosine, 2'-deoxy-inosine (dIno), guanosine, and 2'-deoxy-guanosine (dGuo) in all cells, especially lymphocytes. Treatments are available and curative for PNP deficiency, but their efficacy depends on the early approach. P

The production, allocation and cycling of carbon in a forest on fertile terra preta soil in eastern Amazonia compared with a forest on adjacent infertile soil

Background: Terra preta do indio or 'dark earth' soils formed as a result of a long-term addition of organic matter by indigenous peoples in Amazonia. Aims: Here we report on the first study of productivity, allocation and carbon cycling from a terra preta plot in eastern Amazonia (Caxiuana, Para, Brazil), and contrast its dynamics with a nearby plot on infertile soil (ferralsols). Methods: We det

Synergism between vascular endothelial growth factor and placental growth factor contributes to angiogenesis and plasma extravasation in pathological conditions

Vascular endothelial growth factor (VEGF) stimulates angiogenesis by activating VEGF receptor-2 (VEGFR-2). The role of its homolog, placental growth factor (PlGF), remains unknown. Both VEGF and PlGF bind to VEGF receptor-1 (VEGFR-1), but it is unknown whether VEGFR-1, which exists as a soluble or a membrane-bound type, is an inert decoy or a signaling receptor for PlGF during angiogenesis. Here,

Artefactual Intelligence: The Development and Use of Cognitively Congenial Artefacts

How can tools help structure tasks to make them cognitively easier to perform? How do artefacts, and our strategies for using them, develop over time in cognitively beneficial ways? These are two of the main questions that are explored in the five papers collected in this thesis. The first paper details an ethnographic study conducted on people cooking in their homes. The study is a first pass ov

Ecosystem services and biodiversity conservation: concepts and a glossary

The RUBICODE project draws on expertise from a range of disciplines to develop and integrate frameworks for assessing the impacts of environmental change on ecosystem service provision, and for rationalising biodiversity conservation in that light. With such diverse expertise and concepts involved, interested parties will not be familiar with all the key terminology. This paper defines the terms a

Using models to guide field experiments : a priori predictions for the CO2 response of a nutrient- and water-limited native Eucalypt woodland

The response of terrestrial ecosystems to rising atmospheric CO2 concentration (Ca), particularly under nutrient-limited conditions, is a major uncertainty in Earth System models. The Eucalyptus Free-Air CO2 Enrichment (EucFACE) experiment, recently established in a nutrient- and water-limited woodland presents a unique opportunity to address this uncertainty, but can best do so if key model uncer

Functional traits as indicators of biodiversity response to land use changes across ecosystems and organisms

Rigorous and widely applicable indicators of biodiversity are needed to monitor the responses of ecosystems to global change and design effective conservation schemes. Among the potential indicators of biodiversity, those based on the functional traits of species and communities are interesting because they can be generalized to similar habitats and can be assessed by relatively rapid field assess

Towards an integrated global framework to assess the impacts of land use and management change on soil carbon : Current capability and future vision

Intergovernmental Panel on Climate Change (IPCC) Tier 1 methodologies commonly underpin project-scale carbon accounting for changes in land use and management and are used in frameworks for Life Cycle Assessment and carbon footprinting of food and energy crops. These methodologies were intended for use at large spatial scales. This can introduce error in predictions at finer spatial scales. There

Impacts of experimentally imposed drought on leaf respiration and morphology in an Amazon rain forest

P>1. The Amazon region may experience increasing moisture limitation over this century. Leaf dark respiration (R) is a key component of the Amazon rain forest carbon (C) cycle, but relatively little is known about its sensitivity to drought. 2. Here, we present measurements of R standardized to 25 degrees C and leaf morphology from different canopy heights over 5 years at a rain forest subject to

Polymer Gels: Modeling the Swelling Behavior

Popular Abstract in Swedish Som man kan se av titeln handlar den här avhandlingen om polyelektrolytgeler. Vad är nu polyelektrolyter och vad är geler? Och vad är de bra till? Polymerer Polymerer är långa molekylkedjor, som förekommer i naturen men som också kan vara gjorda av människan. Några exempel på polymerer i naturen är DNA, som bär på vår genetiska information, stärkelse och cellulosa. NåThis thesis is concerned with the swelling behavior of polyelectrolyte gels. The thesis can be divided into two parts. Part one deals with the modeling and computer simulation of the gel swelling. The second part contains experimental results from the binding of oppositely charged surfactant to a polyacrylate network and a theoretical model for the swelling in the presence of a "skin" around the g

Human Endogenous Retroviruses: Studies on Transcriptional Activity and Genetic Variability.

Popular Abstract in Swedish Retrovirus är en stor grupp av virus som infekterar djur och människor och kan ge upphov till olika slags sjukdomar. Hos människa finns tre olika grupper av retrovirus. Det mest kända är HIV (humant immunbrist virus) och infektion av detta leder i många fall till AIDS. Andra mänskliga retrovirus är HTLV, humant T-cells leukemi virus, och humant spumavirus. Förutom dessaEndogenous retroviruses (ERVs) are believed to be remains of germ-line infections that have become fixed in the population. They are involved in pathophysiological conditions, in mechanisms leading to infection protection, and directly in the physiology of the organism by participating in the regulation of cellular gene expression. It has been estimated that human ERVs (HERVs) make up about 0.6% o

Implementation of Industrial Robot Force Control Case Study: High Power Stub Grinding and Deburring

In this paper, the results from a joint industry-academia project in industrial robotic force control are presented. The extension and implementation of an external sensor system for an industrial robot system, which can be used for high-bandwidth force control, are described. Results from two industrial applications using the system are presented, a stub grinding application using a new compliant

Children born preterm : A 19-year perspective

Popular Abstract in Swedish De flesta barn föds efter i genomsnitt 40 fullgångna graviditetsveckor. Cirka 4,2%, dvs vart tjugofemte barn i Sverige föds emellertid för tidigt - prematurt - vilket innebär att barnet föds före 37 fullgångna graviditetsveckor. Att förlossningen startar i förtid kan bero på sjukdomar eller avvikelser hos modern eller fostret, men i många fall är orsaken inte klarlagd. In this longitudinal, prospective study, 39 preterm children, consecutively born before 35 weeks of completed gestation and 23 full-term children were followed up after 19 years. Multifaceted aspects of outcome were evaluated. The results indicate a clear increase in somatic morbidity during growth and young adulthood among the preterms. Psychometric evaluation of cognitive development at age 19 y

Utilisation of antihyperglycaemic drugs in ten European countries: different developments and different levels.

Aims/hypothesis The aim of this study was to compare developments in the utilisation of antihyperglycaemic drugs (AHGDs) in ten European countries. Subhect and methods Data on the yearly utilisation of insulin and oral AHGDs were collected from public registers in Denmark, Finland, Norway, Sweden, Belgium, England, Germany, Italy, Portugal and Spain, and were expressed as defined daily doses per 1

The nutritional quality of an infant food from quinoa and its effect on the plasma level of insulin-like growth factor-1 (IGF-1) in undernourished children.

An infant food product was manufactured by drum drying a pre-cooked slurry of quinoa (Chenopodium quinoa, Willd) flour. The chemical composition shows that the product is a potential source of valuable nutrients, like protein (16%), vitamin E (19 mg/kg), thiamine (0.7 mg/100 g), iron (70 mg/kg), zinc (48 mg/kg) and magnesium (1.8 g/kg), all the values expressed on dry basis, to pre-school children

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Popular Abstract in Swedish Avhandlingen behandlar inlärning av italienska som ett av två modersmål (svenska/italienska) hos tvåspråkiga barn och som andraspråk hos svenska vuxna som lär sig italienska i Italien. Särksilt fokus ligger på ett barn som lär sig italienska som ett av två modersmål i Sverige och vi ställer oss frågan om hans italienska kommer att utvecklas som hos italienska enspråkigaThis thesis deals with the development of the DP (the Determiner Phrase) in bilingual first (2L1) and in adult second (L2) language acquisition of Italian, with a focus on a case study of Italian as a second first language. The thesis suggests that the bilingual children and the Swedish adult learners develop the Italian DP differently. The child acquiring Italian as a second first language develo

Effects of x-ray free-electron laser pulse intensity on the Mn K β 1,3x-ray emission spectrum in photosystem II - A case study for metalloprotein crystals and solutions

In the last ten years, x-ray free-electron lasers (XFELs) have been successfully employed to characterize metalloproteins at room temperature using various techniques including x-ray diffraction, scattering, and spectroscopy. The approach has been to outrun the radiation damage by using femtosecond (fs) x-ray pulses. An example of an important and damage sensitive active metal center is the Mn4CaO

The changing landscape of genetic testing and its impact on clinical and laboratory services and research in Europe

The arrival of new genetic technologies that allow efficient examination of the whole human genome (microarray, next-generation sequencing) will impact upon both laboratories (cytogenetic and molecular genetics in the first instance) and clinical/medical genetic services. The interpretation of analytical results in terms of their clinical relevance and the predicted health status poses a challenge