Long-term monitoring of SO2 quiescent degassing from Nyiragongo’s lava lake

The activity of open-vent volcanoes with an active lava-lake, such as Nyiragongo, is characterized by persistent degassing, thus continuous monitoring of the rate, volume and fate of their gas emissions is of great importance to understand their geophysical state and their potential impact. We report results of SO2 emission measurements from Nyiragongo conducted between 2004 and 2012 with a network of ground-based scanning-DOAS (Differential Optical Absorption Spectroscopy) remote sensors. The mean SO2 emission rate is found to be 13 ± 9 kg s−1, similar to that observed in 1959. Daily emission rate has a distribution close to log-normal and presents large inter-day variability, reflecting the dynamics of percolation of magma batches of heterogeneous size distribution and changes in the effective permeability of the lava lake. The degassed S content is found to be between 1000 and 2000 ppm from these measurements and the reported magma flow rates sustaining the lava lake. The inter-annual trend and plume height statistics indicate stability of a quiescently degassing lava lake during the period of study

Common variation in PHACTR1 is associated with susceptibility to cervical artery dissection

Cervical artery dissection (CeAD), a mural hematoma in a carotid or vertebral artery, is a major cause of ischemic stroke in young adults although relatively uncommon in the general population (incidence of 2.6/100,000 per year). Minor cervical traumas, infection, migraine and hypertension are putative risk factors, and inverse associations with obesity and hypercholesterolemia are described. No confirmed genetic susceptibility factors have been identified using candidate gene approaches. We performed genome-wide association studies (GWAS) in 1,393 CeAD cases and 14,416 controls. The rs9349379[G] allele (PHACTR1) was associated with lower CeAD risk (odds ratio (OR) = 0.75, 95% confidence interval (CI) = 0.69-0.82; P = 4.46 × 10(-10)), with confirmation in independent follow-up samples (659 CeAD cases and 2,648 controls; P = 3.91 × 10(-3); combined P = 1.00 × 10(-11)). The rs9349379[G] allele was previously shown to be associated with lower risk of migraine and increased risk of myocardial infarction. Deciphering the mechanisms underlying this pleiotropy might provide important information on the biological underpinnings of these disabling conditions

The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals

To dissect the genetic architecture of blood pressure and assess effects on target-organ damage, we analyzed 128,272 SNPs from targeted and genome-wide arrays in 201,529 individuals of European ancestry and genotypes from an additional 140,886 individuals were used for validation. We identified 66 blood pressure loci, of which 17 were novel and 15 harbored multiple distinct association signals. The 66 index SNPs were enriched for cis-regulatory elements, particularly in vascular endothelial cells, consistent with a primary role in blood pressure control through modulation of vascular tone across multiple tissues. The 66 index SNPs combined in a risk score showed comparable effects in 64,421 individuals of non-European descent. The 66-SNP blood pressure risk score was significantly associated with target-organ damage in multiple tissues, with minor effects in the kidney. Our findings expand current knowledge of blood pressure pathways and highlight tissues beyond the classic renal system in blood pressure regulation

New genetic loci link adipose and insulin biology to body fat distribution.

Body fat distribution is a heritable trait and a well-established predictor of adverse metabolic outcomes, independent of overall adiposity. To increase our understanding of the genetic basis of body fat distribution and its molecular links to cardiometabolic traits, here we conduct genome-wide association meta-analyses of traits related to waist and hip circumferences in up to 224,459 individuals. We identify 49 loci (33 new) associated with waist-to-hip ratio adjusted for body mass index (BMI), and an additional 19 loci newly associated with related waist and hip circumference measures (P < 5 × 10(-8)). In total, 20 of the 49 waist-to-hip ratio adjusted for BMI loci show significant sexual dimorphism, 19 of which display a stronger effect in women. The identified loci were enriched for genes expressed in adipose tissue and for putative regulatory elements in adipocytes. Pathway analyses implicated adipogenesis, angiogenesis, transcriptional regulation and insulin resistance as processes affecting fat distribution, providing insight into potential pathophysiological mechanisms

Finishing the euchromatic sequence of the human genome

The sequence of the human genome encodes the genetic instructions for human physiology, as well as rich information about human evolution. In 2001, the International Human Genome Sequencing Consortium reported a draft sequence of the euchromatic portion of the human genome. Since then, the international collaboration has worked to convert this draft into a genome sequence with high accuracy and nearly complete coverage. Here, we report the result of this finishing process. The current genome sequence (Build 35) contains 2.85 billion nucleotides interrupted by only 341 gaps. It covers ∼99% of the euchromatic genome and is accurate to an error rate of ∼1 event per 100,000 bases. Many of the remaining euchromatic gaps are associated with segmental duplications and will require focused work with new methods. The near-complete sequence, the first for a vertebrate, greatly improves the precision of biological analyses of the human genome including studies of gene number, birth and death. Notably, the human enome seems to encode only 20,000-25,000 protein-coding genes. The genome sequence reported here should serve as a firm foundation for biomedical research in the decades ahead

A genome-wide association search for type 2 diabetes genes in African Americans.

African Americans are disproportionately affected by type 2 diabetes (T2DM) yet few studies have examined T2DM using genome-wide association approaches in this ethnicity. The aim of this study was to identify genes associated with T2DM in the African American population. We performed a Genome Wide Association Study (GWAS) using the Affymetrix 6.0 array in 965 African-American cases with T2DM and end-stage renal disease (T2DM-ESRD) and 1029 population-based controls. The most significant SNPs (n = 550 independent loci) were genotyped in a replication cohort and 122 SNPs (n = 98 independent loci) were further tested through genotyping three additional validation cohorts followed by meta-analysis in all five cohorts totaling 3,132 cases and 3,317 controls. Twelve SNPs had evidence of association in the GWAS (P<0.0071), were directionally consistent in the Replication cohort and were associated with T2DM in subjects without nephropathy (P<0.05). Meta-analysis in all cases and controls revealed a single SNP reaching genome-wide significance (P<2.5×10(-8)). SNP rs7560163 (P = 7.0×10(-9), OR (95% CI) = 0.75 (0.67-0.84)) is located intergenically between RND3 and RBM43. Four additional loci (rs7542900, rs4659485, rs2722769 and rs7107217) were associated with T2DM (P<0.05) and reached more nominal levels of significance (P<2.5×10(-5)) in the overall analysis and may represent novel loci that contribute to T2DM. We have identified novel T2DM-susceptibility variants in the African-American population. Notably, T2DM risk was associated with the major allele and implies an interesting genetic architecture in this population. These results suggest that multiple loci underlie T2DM susceptibility in the African-American population and that these loci are distinct from those identified in other ethnic populations

A step towards increasing the independence of the functionally diverse : Development of storage solution on elektric wheelchairs

Permobil AB är ett medicintekniskt företag som bland annat tillverkar elektriska rullstolar. Till dessa rullstolar existerar i nuläget inte en större förvaringslösning som tillåter brukare enkel tillgång till innehållet. Frånvaron av förvaring leder till att improviserade och hemmagjorda lösningar används, vilket i sin tur leder till sekundära problem som exempelvis försämrad stabilitet och trycksår. Projektets mål var därför att skapa en prototyp (inklusive dess 3D-modeller) som tillät upp till 20 liter förvaring med tillgänglighet för brukaren. Projektets övergripande syfte var att öka självständigheten hos Permobils brukare och att öka deras möjlighet till deltagande i vardagsaktiviteter. Givet rådande Covid-19 omständigheter vid tidpunkten för detta arbete så utfördes inga användbarhetstester direkt mot brukare för att minimera smittspridning av viruset. Prototypen avgränsades även till att endast anpassas till Permobils sitssystem Corpus. Designprocessen användes som projektets huvudsakliga utvecklingsmetod där datainsamling bestod av inledande användbarhetstester i syftet att se problem och behov, användarhistorier, en användarresa och en riskanalys. Samtliga delar bidrog till skapandet av en kravspecifikation. I projektets designinriktade delar skapades tre moodboards och två tillfällen hölls med Permobils anställda för att skissa på idéer och lösningsförslag. Koncept som valdes att vidareutvecklades utvärderades genom 3D-modellering samt via skapandet av fysiska prototyper. De fysiska prototyperna funktionstestades mot den elektriska rullstolen för att utvärdera rörelsemönster, begränsningar och infästningsmöjligheter. En slutgiltig prototyp erhölls, där ett mekaniskt system omvandlade en linjär rörelse till en cirkulär. Rörelsen motsvarade 90° och tillät exempelvis väskor och påsar i storleken 20 liter att förflytta sig från den elektriska rullstolens rygg till dess sida. Projektets mål ansågs därför uppfyllda. Inga utmattningstester utfördes på prototypen då det varken var ekonomiskt eller tidsmässigt lönsamt i dess tidiga stadie och ska-krav som existerar på grund av ISO-standarder uppfylldes därför inte. Simuleringar och ytterligare utveckling i aluminium hade också varit nödvändigt för att bekräfta och uppfylla att konstruktionen håller för den önskade maxvikten. Resterande krav ansågs uppfyllda. Då ytterligare tester och förbättringar behövs så kan inte syftet för projektet anses vara uppfyllt, men visionen om en ökad självständighet lever vidare med prototypens vidareutveckling.Permobil AB is a medical technology company that, among other things, manufactures electric wheelchairs. There is currently no major storage solution for these wheelchairs that allows users easy access to the content. The absence of storage leads to the use of improvised and home-made solutions, which in turn leads to secondary problems such as impaired stability and pressure ulcers. The project's goal was therefore to create a prototype (including its 3D models) that allowed up to 20 liters of storage with accessibility for the user. The overall purpose of the project was to increase the independence of Permobil's users and to increase their ability to participate in everyday activities. Given the prevailing Covid-19 circumstances at the time of this work, no usability tests were performed directly on users to minimize the spread of the virus. The prototype was chosen to be adapted only to Permobil's seating system Corpus. The design process was used as the project's main development method where data collection consisted of initial usability tests in order to see problems and needs, user stories, a user journey and a risk analysis. All parts contributed to the creation of a requirements specification. In the design-oriented parts of the project, three mood boards were created and two occasions were held with Permobil's employees to sketch ideas and solution proposals. Concepts chosen to be further developed were evaluated through 3D modeling and the creation of physical prototypes. The physical prototypes were functionally tested against the electric wheelchair to assess movement patterns, limitations and attachment possibilities. A final prototype was obtained, in which a mechanical system converted a linear motion into a circular one. The movement corresponded to 90° and allowed, for example, bags in the size of 20 liters to move from the back of the electric wheelchair to its side. The project's goals were therefore considered achieved. No fatigue tests were performed on the prototype as it was neither economically nor temporally profitable in its early stages and requirements that exist due to ISO standards were therefore not met. Simulations and further development in aluminum are also necessary to confirm and fulfill that the construction holds for the desired maximum weight. The remaining requirements were considered met. As further tests and improvements are needed, the purpose of the project cannot be considered fulfilled. Still, the vision of increased independence lives on with the further development of the prototype

A step towards increasing the independence of the functionally diverse : Development of storage solution on elektric wheelchairs

Permobil AB är ett medicintekniskt företag som bland annat tillverkar elektriska rullstolar. Till dessa rullstolar existerar i nuläget inte en större förvaringslösning som tillåter brukare enkel tillgång till innehållet. Frånvaron av förvaring leder till att improviserade och hemmagjorda lösningar används, vilket i sin tur leder till sekundära problem som exempelvis försämrad stabilitet och trycksår. Projektets mål var därför att skapa en prototyp (inklusive dess 3D-modeller) som tillät upp till 20 liter förvaring med tillgänglighet för brukaren. Projektets övergripande syfte var att öka självständigheten hos Permobils brukare och att öka deras möjlighet till deltagande i vardagsaktiviteter. Givet rådande Covid-19 omständigheter vid tidpunkten för detta arbete så utfördes inga användbarhetstester direkt mot brukare för att minimera smittspridning av viruset. Prototypen avgränsades även till att endast anpassas till Permobils sitssystem Corpus. Designprocessen användes som projektets huvudsakliga utvecklingsmetod där datainsamling bestod av inledande användbarhetstester i syftet att se problem och behov, användarhistorier, en användarresa och en riskanalys. Samtliga delar bidrog till skapandet av en kravspecifikation. I projektets designinriktade delar skapades tre moodboards och två tillfällen hölls med Permobils anställda för att skissa på idéer och lösningsförslag. Koncept som valdes att vidareutvecklades utvärderades genom 3D-modellering samt via skapandet av fysiska prototyper. De fysiska prototyperna funktionstestades mot den elektriska rullstolen för att utvärdera rörelsemönster, begränsningar och infästningsmöjligheter. En slutgiltig prototyp erhölls, där ett mekaniskt system omvandlade en linjär rörelse till en cirkulär. Rörelsen motsvarade 90° och tillät exempelvis väskor och påsar i storleken 20 liter att förflytta sig från den elektriska rullstolens rygg till dess sida. Projektets mål ansågs därför uppfyllda. Inga utmattningstester utfördes på prototypen då det varken var ekonomiskt eller tidsmässigt lönsamt i dess tidiga stadie och ska-krav som existerar på grund av ISO-standarder uppfylldes därför inte. Simuleringar och ytterligare utveckling i aluminium hade också varit nödvändigt för att bekräfta och uppfylla att konstruktionen håller för den önskade maxvikten. Resterande krav ansågs uppfyllda. Då ytterligare tester och förbättringar behövs så kan inte syftet för projektet anses vara uppfyllt, men visionen om en ökad självständighet lever vidare med prototypens vidareutveckling.Permobil AB is a medical technology company that, among other things, manufactures electric wheelchairs. There is currently no major storage solution for these wheelchairs that allows users easy access to the content. The absence of storage leads to the use of improvised and home-made solutions, which in turn leads to secondary problems such as impaired stability and pressure ulcers. The project's goal was therefore to create a prototype (including its 3D models) that allowed up to 20 liters of storage with accessibility for the user. The overall purpose of the project was to increase the independence of Permobil's users and to increase their ability to participate in everyday activities. Given the prevailing Covid-19 circumstances at the time of this work, no usability tests were performed directly on users to minimize the spread of the virus. The prototype was chosen to be adapted only to Permobil's seating system Corpus. The design process was used as the project's main development method where data collection consisted of initial usability tests in order to see problems and needs, user stories, a user journey and a risk analysis. All parts contributed to the creation of a requirements specification. In the design-oriented parts of the project, three mood boards were created and two occasions were held with Permobil's employees to sketch ideas and solution proposals. Concepts chosen to be further developed were evaluated through 3D modeling and the creation of physical prototypes. The physical prototypes were functionally tested against the electric wheelchair to assess movement patterns, limitations and attachment possibilities. A final prototype was obtained, in which a mechanical system converted a linear motion into a circular one. The movement corresponded to 90° and allowed, for example, bags in the size of 20 liters to move from the back of the electric wheelchair to its side. The project's goals were therefore considered achieved. No fatigue tests were performed on the prototype as it was neither economically nor temporally profitable in its early stages and requirements that exist due to ISO standards were therefore not met. Simulations and further development in aluminum are also necessary to confirm and fulfill that the construction holds for the desired maximum weight. The remaining requirements were considered met. As further tests and improvements are needed, the purpose of the project cannot be considered fulfilled. Still, the vision of increased independence lives on with the further development of the prototype

Language developing methods in four recreation centers : A qualitative study of four teachers´ experiences

Syftet med studien är att undersöka lärare i fritidshems erfarenheter av arbete med flerspråkiga elevers språkutveckling i fritidshem. Forskningsfrågor för studien är: Hur arbetar lärarna i fritidshem med flerspråkiga elevers språkutveckling samt vilka möjligheter och hinder anser lärarna att det finns i arbetet med flerspråkiga elevers språkutveckling. Studien baserades på kvalitativ metod i form av semistrukturerade intervjuer med stöd av en intervjumanual. Fyra lärare i fyra fritidshem på olika skolor har intervjuats. I denna studie har en innehållsanalys använts för bearbetning av insamlad empiriska data. De lärare som intervjuats för studien nämner att fritidshemmet är en bra plats för språkutvecklande arbete. De menar att den fria strukturen och möjligheten att anpassa verksamheten efter elevernas behov är fördelaktig. Lärarna nämner en rad olika verktyg och metoder som främjar lärandet i det språkutvecklande arbetssättet, till exempel bildstöd, högläsning samt arbete med teman och värdegrundsord. Lärarna talar även om ett behov av struktur och tydlighet för eleverna i det språkutvecklande arbetet, där strukturen och tydligheten bistår med att främja elevernas språkutveckling då eleverna känner till upplägget för verksamheten i fritidshemmet. De nämner även utmaningar i arbetet med de flerspråkiga elevernas språkutveckling i form av personalbrist, gruppstorlek, kompetens och behovet av välfungerande samplanering lärarna emellan