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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…
Grafting of Hindered Phenol Groups onto Ethylene/α-Olefin Copolymer by Nitroxide Radical Coupling
The covalent immobilization of hindered phenol groups, with potential antioxidant activity, onto an ethylene/α-olefin (EOC) copolymer was carried out by the nitroxide radical coupling (NRC) reaction performed in the melt with a peroxide and the 3,5-di-tert-butyl-4-hydroxybenzoyl-2,2,6,6-tetramethylpiperidine-1-oxyl radical (BHB-T). Functionalized EOC (EOC-g-(BHB-T)) was exposed to photo- and thermo-oxidation. By comparison with some model compounds bearing the (2,2,6,6-tetramethylpiperidin-1-yl)oxyl (TEMPO) moiety or the hindered phenol unit, it was observed that the grafted BHB-T could effectively help the stabilization of the polymer matrix both under photo- and thermo-oxidation. In addit…
Lotus spp: biotechnological strategies to improve the bioeconomy of lowlands in the Salado River Basin (Argentina)
The Salado River Basin region is the most important livestock breeding area in Argentina, wherethe Lotus species has been traditionally cultivated as forages. Nearly 60% of their land surface is dominated by salt-affected soils with severe constraints for crop cultivation. In order to cope with that limitation, farmers have utilized species such as non-native L. tenuis (ex- Lotus glaber), which shows a very good adaptation. As a result, inter-seeding of L. tenuis has been proposed as a strategy of choice for improving forage production in marginal areas. The increase in soil quality by these means is achieved by an increment of the organic matter content, improvement of soil fertility as we…
Validation study of Italian version of inventory for déjà vu experiences assessment (I-IDEA): A screening tool to detect déjà vu phenomenon in Italian healthy individuals
The Inventory Déjà Vu Experiences Assessment (IDEA) is the only screening instrument proposed to evaluate the Déjà vu (DV) experience. Here, we intended to validate the Italian version of IDEA (I-IDEA) and at the same time to investigate the incidence and subjective qualities of the DV phenomenon in healthy Italian adult individuals on basis of an Italian multicentre observational study. In this study, we report normative data on the I-IDEA, collected on a sample of 542 Italian healthy subjects aging between 18-70 years (average age: 40) with a formal educational from 1-19 years. From September 2013 to March 2016, we recruited 542 healthy volunteers from 10 outpatient neurological clinics i…
MBE growth and properties of low-density InAs/GaAs quantum dot structures.
We present the results of a comprehensive study carried out on morphological, structural and optical properties of InAs/GaAs quantum dot structures grown by Molecular Beam Epitaxy. InAs quantum dots were deposited at low growth rate and high growth temperature and were capped with InGaAs upper confining layers. Owing to these particular design and growth parameters, quantum dot densities are in the order of 4-5x109 cm-2 with emission wavelengths ranging from 1.20 to 1.33 µm at 10 K, features that make these structures interesting for single-photon operation at telecom wavelength. High resolution structural techniques show that In content and composition profiles in the structures depend on …
La gestione dell'emergenza covid-19. Il caso dell'Azienda unità sanitaria locale di Modena
La pandemia covid-19, emergenza di sanità pubblica di rilevanza internazionale, ha imposto agli enti sanitari di prendere delle decisioni in tempi brevi, e di riallocare le risorse in modo adeguato. Gli interventi non farmaceutici, quali ad esempio il confinamento, sono stati accompagnati da sostanziali riorganizzazioni dei servizi, delle aree fisiche e dei processi, al fine di garantire assistenza a un crescente numero di pazienti covid. Materiali e metodi. L'articolo utilizza una metodologia basata su un caso di studio relativo all'Azienda unità sanitaria locale (Ausl) di Modena. Molteplici fonti informative sono state utilizzate al fine di raccogliere, triangolare e verificare i dati. Ri…
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…
Effect of temperature–bias annealing on the hysteresis and subthreshold behavior of multilayer MoS2 transistors
The transfer characteristics (ID-VG) of multilayers MoS2 transistors with a SiO2/Si backgate and Ni source/drain contacts have been measured on as-prepared devices and after annealing at different temperatures (T-ann from 150 degrees C to 200 degrees C) under a positive bias ramp (V-G from 0 V to + 20 V). Larger T-ann resulted in a reduced hysteresis of the ID-VG curves (from similar to 11 V in the as-prepared sample to similar to 2.5 V after Tann at 200 degrees C). The field effect mobility (similar to 30 cm(2) V-1 s(-1)) remained almost unchanged after the annealing. On the contrary, the subthreshold characteristics changed from the common n-type behaviour in the as-prepared device to the…
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…
Mediterranean Neogene planktonic foraminifer biozonation and biochronology
Abstract Planktonic foraminifera are widely used for biostratigraphy and correlation of Mediterranean Neogene marine sediments, and are a fundamental component in the astronomical tuning of the Neogene Time Scale. Recent developments in high-resolution studies, focused on the astronomical calibration of cyclically marine sediments cropping out in land-based sections and recovered from deep-sea successions, increased the accuracy of stratigraphic ranges of planktonic foraminiferal species improving the biostratigraphic resolution and biochronology. The large amount of data on planktonic foraminifera obtained through quantitative/semiquantitative analyses, published in the recent years, allow…
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…