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Neurofibromatosis-Noonan syndrome (NFNS) is a rare condition with clinical features of both neurofibromatosis type 1 (NF1) and Noonan syndrome (NS). All three syndromes belong to the RASopathies, which are caused by dysregulation of the RAS-MAPK pathway. The major gene involved in NFNS is NF1, but co-occurring NF1 and PTPN11 mutations in NFNS have been reported. Knowledge about possible involvemen
Water-insoluble films of oppositely charged polyionsurfactant ion complex salts (CS) are readily cast on solid surfaces from ethanolic solutions. The methodology introduces new possibilities to study and utilize more or less hydrated CS. Direct SAXS measurements show that the surface films are water-responsive and change their liquid crystalline structure in response to changes in the water activi
Medulloblastoma is a highly malignant paediatric brain tumour currently treated with a combination of surgery, radiation and chemotherapy, posing a considerable burden of toxicity to the developing child. Genomics has illuminated the extensive intertumoral heterogeneity of medulloblastoma, identifying four distinct molecular subgroups. Group 3 and group 4 subgroup medulloblastomas account for most
Aim: Regression testing practices in industry have to be better understood, both for the industry itself and for the research community. Method: We conducted a qualitative industry survey by i) running a focus group meeting with 15 industry participants and ii) validating the outcome in an on line questionnaire with 32 respondents. Results: Regression testing needs and practices vary greatly betwe
We aimed to investigate the causal effect of circulating uric acid concentrations on type 2 diabetes risk. A Mendelian randomization study was performed using a genetic score with 24 uric acid associated loci. We used data of the EPIC-InterAct case-cohort study, comprising 24,265 individuals of European ancestry from eight European countries. During a mean (SD) follow-up of 10 (4) years, 10,576 ve
We present an update of a search for supersymmetry in final states containing jets, missing transverse momentum, and one isolated electron or muon, using 1.04 fb(-1) of proton-proton collision data at root s =7 TeV recorded by the ATLAS experiment at the LHC in the first half of 2011. The analysis is carried out in four distinct signal regions with either three or four jets and variations on the (
The blade tip region encounters high thermal loads because of the hot gas leakage flows, and it must therefore be cooled to ensure a long durability and safe operation. A common way to cool a blade tip is to design serpentine passages with 180 deg turns under the blade tip-cap inside the turbine blade. Improved internal convective cooling is therefore required to increase the blade tip lifetime. D
The evolution of multicellular organisms represents one of approximately eight major evolutionary transitions that have occurred on earth [1-4]. The major challenge raised by this transition is to explain why single cells should join together and become mutually dependent, in a way that leads to a more complex multicellular life form that can only replicate as a whole. It has been argued that a hi
Introduction. Significant progress has been made in the understanding of physiological and pharmacological mechanisms of human sexual functioning through preclinical research in animal models. Aim. To provide an evidence-based documentation of the experimental models evaluating male and female sexual function for useful clinical translation. Methods. Consensus discussion over the past 18 months le
The Child Feeding Questionnaire (CFQ) assesses parental feeding attitudes, beliefs and practices concerned with child feeding and obesity proneness. While the questionnaire has been developed and primarily used in the U.S., validation studies in other countries are limited. The aim of this study was to examine the psychometric properties of the CFQ among mothers with preschoolers in Sweden and the
In our continuing program to develop Plasmodium falciparum dihydroorotate dehydrogenase (PfDHODH) inhibitors, a series of N-substituted salicylamides were synthesized and their ability to selectively inhibit PfDHODH was examined. The synthetic program was based on 2-hydroxy-N-(2-phenylethyl)benzamide (1) that weakly inhibits both PfDHODH and human DHODH (hDHODH). Structure activity relationships w
Microbially induced sedimentary structures (MISS) in siliciclastic shallow-marine strata occur in the lower and middle Cambrian and the Silurian of southern Sweden. These are typically transparent wrinkle structures with a wide range of morphologies. They are exclusively associated with shoreface to lower shoreface environments, characterized by fine-grained sandstone interbedded with mudstone and
To validate the Swedish Register for Gallstone Surgery and Endoscopic Retrograde Cholangiopancreatography (GallRiks) concerning completeness and correctness of entered data for cholecystectomies and evaluating the effect of repeated audits. It is crucial for any register to obtain a high accuracy in order to be a credible and reliable source for quality evaluation, research, and development.
Capacity improvement of intrasite cooperative MIMO using all three 120 degree-sectors of a base station (BS) site is studied for the first time in a measured urban environment at 2.65GHz. The results show that the mean uplink capacity gain exceeds 40% in as much as 1/4 of the coverage area, relative to the best single-sector link with no cooperation. In addition, a simple simulation model is devel
A high-order accurate, explicit kernel-split, panel-based, Fourier–Nyström discretization scheme is developed for integral equations associated with the Helmholtz equation in axially symmetric domains. Extensive incorporation of analytic information about singular integral kernels and on-the-fly computation of nearly singular quadrature rules allow for very high achievable accuracy, also in the ev
Serotonin (5-HT), an important modulator of both sensory and motor functions in the mammalian spinal cord, originates mainly in the raphe nuclei of the brainstem. However, following complete transection of the spinal cord, small amounts of 5-HT remain detectable below the lesion. It has been suggested, but not proven, that this residual 5-HT is produced by intraspinal 5-HT neurons. Here, we show b
According to our current cosmological model, galaxies like the Milky Way are expected to experience many mergers over their lifetimes. The most massive of the merging galaxies will be dragged towards the disc plane, depositing stars and dark matter into an accreted disc structure. In this work, we utilize the chemodynamical template developed in Ruchti et al. to hunt for accreted stars. We apply t
Introduction: The diagnosis of acute lung injury (ALI) may be more robust if more accurate physiological markers can be identified. Extravascular lung water (EVLW) is one possible marker, and it has been shown to correlate with respiratory function and mortality in patients with sepsis. Whether EVLW confers diagnostic value in a general population with shock, as well as which index performs best,
An integrated study of palynology, Mossbauer spectroscopy, mineralogy and osmium isotopes has led to the detection of the first K-Pg boundary clay layer in a Southern Hemisphere terrestrial setting. The K-Pg boundary layer was independently identified at centimetre resolution by all the above mentioned methods at the marine K-Pg boundary site of mid-Waipara and the terrestrial site of Compressor C
