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AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.
AMPA receptors (AMPARs) are tetrameric ligand-gated channels made up of combinations of GluA1-4 subunits encoded by GRIA1-4 genes. GluA2 has an especially important role because, following post-transcriptional editing at the Q607 site, it renders heteromultimeric AMPARs Ca2+-impermeable, with a linear relationship between current and trans-membrane voltage. Here, we report heterozygous de novo GRIA2 mutations in 28 unrelated patients with intellectual disability (ID) and neurodevelopmental abnormalities including autism spectrum disorder (ASD), Rett syndrome-like features, and seizures or developmental epileptic encephalopathy (DEE). In functional expression studies, mutations lead to a dec…
Long-term monitoring of mrk 501 for its very high energy γ emission and a flare in 2011 october
"As one of the brightest active blazars in both X-ray and very high energy γ -ray bands, Mrk 501, is very useful for" "physics associated with jets from active galactic nuclei. The ARGO-YBJ experiment has monitored Mrk 501 for γ - rays above 0.3 TeV since 2007 November. The largest flare since 2005 was observed from 2011 October and lasted until about 2012 April. In this paper, a detailed analysis of this event is reported. During the brightest γ -ray flaring episodes from 2011 October 17 to November 22, an excess of the event rate over 6σ is detected by ARGO-YBJ in the direction of Mrk 501, corresponding to an increase of the γ -ray flux above 1 TeV by a factor of 6.6 ± 2.2 from its steady…
Prognostic factors and predictors of outcome in children with autism spectrum disorder: the role of the paediatrician.
Abstract Background Autism spectrum disorder is a complex condition with wide variation in type and severity that involves persistent challenges in social interaction, speech and nonverbal communication, restricted/repetitive behaviours and adaptive behaviours. In recent years, research has deepened the study of the predictive factors of optimal outcome, intended as indicators of positive trajectory in children with a previous diagnosis of autism who, after a therapeutic path, show a significant reduction in the “core” symptoms of autism and a positive evolution in social, adaptive, affective, and relational skills. Methods The study included 40 children aged 21 to 66 months, enrolled betwe…
OBSERVATION OF THE TeV GAMMA-RAY SOURCE MGRO J1908+06 WITH ARGO-YBJ
The extended gamma ray source MGRO J1908+06, discovered by the Milagro air shower detector in 2007, has been observed for about 4 years by the ARGO-YBJ experiment at TeV energies, with a statistical significance of 6.2 standard deviations. The peak of the signal is found at a position consistent with the pulsar PSR J1907+0602. Parametrizing the source shape with a two-dimensional Gauss function we estimate an extension \sigma = 0.49 \pm 0.22 degrees, consistent with a previous measurement by the Cherenkov Array H.E.S.S.. The observed energy spectrum is dN/dE = 6.1 \pm 1.4 \times 10^-13 (E/4 TeV)^{-2.54 \pm 0.36} photons cm^-2 s^-1 TeV^-1, in the energy range 1-20 TeV. The measured gamma ray…
Observation of TeV gamma-rays from the unidentified source HESS J1841-055 with the ARGO-YBJ experiment
We report the observation of a very high energy \gamma-ray source, whose position is coincident with HESS J1841-055. This source has been observed for 4.5 years by the ARGO-YBJ experiment from November 2007 to July 2012. Its emission is detected with a statistical significance of 5.3 standard deviations. Parameterizing the source shape with a two-dimensional Gaussian function we estimate an extension \sigma=(0.40(+0.32,-0.22}) degree, consistent with the HESS measurement. The observed energy spectrum is dN/dE =(9.0-+1.6) x 10^{-13}(E/5 TeV)^{-2.32-+0.23} photons cm^{-2} s^{-1} TeV^{-1}, in the energy range 0.9-50 TeV. The integral \gamma-ray flux above 1 TeV is 1.3-+0.4 Crab units, which is…
The impact of the Little ice age on coccolithophores in the central Mediterranea Sea
The Little Ice Age (LIA) is the last episode of a series of Holocene climatic anomalies. There is still little knowledge on the response of the marine environment to the pronounced cooling of the LIA and to the transition towards the 20th century global warming. Here we present decadal-scale coccolithophore data from four short cores recovered from the central Mediterranean Sea (northern Sicily Channel and Tyrrhenian Sea), which on the basis of <sup>210</sup>Pb activity span the last 200–350 years. The lowermost part of the record of one of the cores from the Sicily Channel, Station 407, which extends down to 1650 AD, is characterized by drastic changes in productivity. Specific…
Marinesco-Sjögren syndrome caused by a new SIL1 frameshift mutation
no abstract available
Photo-inhibition of Ab fibrillation mediated by a newly designed fluorinated oxadiazole
Uncontrolled aggregation of amyloid beta peptide (A?) is the main cause of Alzheimer's Disease. Therapeutic approaches of intervention in amyloid diseases include the use of small molecules able to stabilize the soluble A? conformation, or to redirect the amyloidogenic pathway towards non-toxic and non-fibrillar states. Fluorometric measurements revealed that the 3-(4'-trifluoromethylphenyl)-5-(4'-methoxyphenyl)-1,2,4-oxadiazole, when irradiated, is able to interact with monomeric A? peptide readdressing the aggregation pathway toward the formation of amorphous aggregates as evidenced by means of CD, AFM, and SAXS measurements. We hypothesize that this compound, under radiation, forms a rea…
A smart and operator independent system to delineate tumours in Positron Emission Tomography scans
Abstract Positron Emission Tomography (PET) imaging has an enormous potential to improve radiation therapy treatment planning offering complementary functional information with respect to other anatomical imaging approaches. The aim of this study is to develop an operator independent, reliable, and clinically feasible system for biological tumour volume delineation from PET images. Under this design hypothesis, we combine several known approaches in an original way to deploy a system with a high level of automation. The proposed system automatically identifies the optimal region of interest around the tumour and performs a slice-by-slice marching local active contour segmentation. It automa…
Mineralogical and chemical variability of fluvial sediments 2. Suspended-load silt (Ganga–Brahmaputra, Bangladesh)
Sediments carried in suspension represent a fundamental part of fluvial transport. Nonetheless, largely because of technical problems, they have been hitherto widely neglected in provenance studies. In order to determine with maximum possible precision the mineralogy of suspended load collected in vertical profiles from water surface to channel bottom of Rivers Ganga and Brahmaputra, we combined Raman spectroscopy with traditional heavy-mineral and X-ray diffraction analyses, carried out separately on low-density and dense fractions of all significant size classes in each sample (multiple-window approach). Suspended load resulted to be a ternary mixture of dominant silt enriched in phyllosi…
Calcareous nannofossil assemblages from the Central Mediterranean Sea over the last four centuries: the impact of the Little Ice Age
Abstract. We present decadal-scale calcareous nannofossil data from four short cores (Station 272, 37° 17' N, 12° 48' E, 226 m depth; St 342, 36° 42' N, 13° 55' E, 858.2 m depth; St 407, 36° 23' N, 14° 27' E, 345.4 m depth; C90-1M, 40° 36' N, 14° 42' E, 103.4 m depth) recovered in the central Mediterranean Sea (northern Sicily Channel and Tyrrhenian Sea), which, on the basis of 210Pb activity span the last 200–350 years. Assemblages are dominated by placoliths, mostly Emiliania huxleyi, while, at least in the Sicily Channel sediments, Florisphaera profunda was an important part of the coccolithophore community. The paleoenvironmental reconstruction, based on ecological preference of species…
High-Intensity Focused Ultrasound- and Radiation Therapy-Induced Immuno-modulation: Comparison and Potential Opportunities
In recent years, high-intensity focused ultrasound (HIFU) has emerged as a new and promising non-invasive and non-ionizing ablative technique for the treatment of localized solid tumors. Extensive pre-clinical and clinical studies have evidenced that, in addition to direct destruction of the primary tumor, HIFU-thermoablation may elicit long-term systemic host anti-tumor immunity. In particular, an important consequence of HIFU treatment includes the release of tumor-associated antigens (TAAs), the secretion of immuno-suppressing factors by cancer cells and the induction of cytotoxic T lymphocyte (CTL) activity. Radiation therapy (RT) is the main treatment modality used for many types of tu…
An enhanced random walk algorithm for delineation of head and neck cancers in PET studies
An algorithm for delineating complex head and neck cancers in positron emission tomography (PET) images is presented in this article. An enhanced random walk (RW) algorithm with automatic seed detection is proposed and used to make the segmentation process feasible in the event of inhomogeneous lesions with bifurcations. In addition, an adaptive probability threshold and a k-means based clustering technique have been integrated in the proposed enhanced RW algorithm. The new threshold is capable of following the intensity changes between adjacent slices along the whole cancer volume, leading to an operator-independent algorithm. Validation experiments were first conducted on phantom studies:…
Electroweak measurements in electron-positron collisions at W-boson-pair energies at LEP
The ALEPH, DELPHI, L3, OPAL collaborations and LEP Electroweak Working Group.-- arXiv:1302.3415
GTVcut for neuro-radiosurgery treatment planning: an MRI brain cancer seeded image segmentation method based on a cellular automata model
Despite of the development of advanced segmentation techniques, achieving accurate and reproducible gross tumor volume (GTV) segmentation results is still an important challenge in neuro-radiosurgery. Nowadays, magnetic resonance imaging (MRI) is the most prominent modality in radiation therapy for soft-tissue anatomical districts. Gamma Knife stereotactic neuro-radiosurgery is a minimally invasive technology for dealing with inaccessible or insufficiently treated tumors with traditional surgery or radiotherapy. During a treatment planning phase, the GTV is generally contoured by experienced neurosurgeons and radiation oncologists using fully manual segmentation procedures on MR images. Unf…