A Functional Human Glycogen Debranching Enzyme Encoded by a Synthetic Gene: Its Implications for Glycogen Storage Disease Type III Management.

Background: Glycogen Storage Disease type III (GSD III) is a metabolic disorder resulting from a deficiency of the Glycogen Debranching Enzyme (GDE), a large monomeric protein (approximately 170 kDa) with cytoplasmic localization and two distinct enzymatic activities: 4-α-glucantransferase and amylo-α-1,6-glucosidase. Mutations in the Agl gene, with consequent deficiency in GDE, lead to the accumulation of abnormal/toxic glycogen with shorter chains (phosphorylase limit dextrin, PLD) in skeletal and/or heart muscle and/or in the liver. Currently, there is no targeted therapy, and available treatments are symptomatic, relying on specific diets.

Comparing the effects of irradiation with protons or photons on neonatal mouse brain: Apoptosis, oncogenesis and hippocampal alterations.

Background And Purpose: Medulloblastoma (MB) is a common primary brain cancer in children. Proton therapy in pediatric MB is intensively studied and widely adopted. Compared to photon, proton radiations offer potential for reduced toxicity due to the characteristic Bragg Peak at the end of their path in tissue.

Unveiling intrinsic material and extrinsic pinning dimensionality in superconductors: Why Fe(Se,Te) is able to mimic YBCO.

Discovery of iron-based superconductors paved the way to a competitor of high-temperature superconductors, easier to produce, better performing in high fields, and promising to be less expensive. Critical parameters are investigated by resistivity measurements as a function of temperature, field, and angle (). This work presents a deep analysis of - phase diagram of PLD-processed Fe(Se,Te) superconducting films, thus revealing material and pinning anisotropy at once.

Synthesis of Photoluminescent 2D Self-Assembled Silver Thiolate Nanoclusters for Sensors and Biomolecule Support.

Silver thiolate nanoclusters (Ag NCs) show distinctive optical properties resulting from their hybrid nature, metallic and molecular, exhibiting size-, structure-, and surface-dependent photoluminescence, thus enabling the exploitation of Ag NCs for potential applications in nanobiotechnology, catalysis, and biomedicine. However, tailoring Ag NCs for specific applications requires achieving long-term stability and may involve modifying surface chemistry, fine-tuning ligand composition, or adding functional groups. In this study, we report the synthesis of novel Ag NCs using 2-ethanephenylthiolate (SR) as a ligand, highlight critical points addressing stability, and characterize their optical and structural properties.

Interfacing Arduino Boards with Optical Sensor Arrays: Overview and Realization of an Accurate Solar Compass.

In this paper, an overview of the potentiality of Arduino boards is presented, together with a description of the Arduino interfacing with light multi-sensors. These sensors can be arranged in linear arrays or in a matrix configuration (CCD or CMOS type cameras) and are equipped with tens, hundreds, or even thousands of elements whose sizes range from a few microns to tens of microns. The use of these sensors requires electronics that have high time accuracy, since they work through regular pulses sent by an external source and, furthermore, have the ability to digitize and store voltage signals precisely and quickly.

Exploration of differentiability in a proton computed tomography simulation framework.

Gradient-based optimization using algorithmic derivatives can be a useful technique to improve engineering designs with respect to a computer-implemented objective function. Likewise, uncertainty quantification through computer simulations can be carried out by means of derivatives of the computer simulation. However, the effectiveness of these techniques depends on how 'well-linearizable' the software is.

In Vivo Radiobiological Investigations with the TOP-IMPLART Proton Beam on a Medulloblastoma Mouse Model.

Protons are now increasingly used to treat pediatric medulloblastoma (MB) patients. We designed and characterized a setup to deliver proton beams for in vivo radiobiology experiments at a TOP-IMPLART facility, a prototype of a proton-therapy linear accelerator developed at the ENEA Frascati Research Center, with the goal of assessing the feasibility of TOP-IMPLART for small animal proton therapy research. Mice bearing Sonic-Hedgehog (Shh)-dependent MB in the flank were irradiated with protons to test whether irradiation could be restricted to a specific depth in the tumor tissue and to compare apoptosis induced by the same dose of protons or photons.

Fast Detection of Different Water Contaminants by Raman Spectroscopy and Surface-Enhanced Raman Spectroscopy.

Fast monitoring of water quality is a fundamental part of environmental management and protection, in particular, the possibility of qualitatively and quantitatively determining its contamination at levels that are dangerous for human health, fauna and flora. Among the techniques currently available, Raman spectroscopy and its variant, Surface-Enhanced Raman Spectroscopy (SERS), have several advantages, including no need for sample preparation, quick and easy operation and the ability to operate on the field. This article describes the application of the Raman and SERS technique to liquid samples contaminated with different classes of substances, including nitrates, phosphates, pesticides and their metabolites.

Monte Carlo analyses of the fusion neutron and gamma signals from the chromium self-powered detector.

To test the applicability of self-powered detectors (SPDs) for radiation monitoring in fusion reactor blankets, several irradiation tests have been undertaken with the ad hoc designed Cr-SPD, which presents the novelty of using chromium as the emitter material. This detector was exposed to an intense Co gamma-ray source, and to the 14 MeV neutrons produced by the D-T fusion reaction. Detailed analyses of the measured signals have been done here using a Monte Carlo modeling technique.

In Vitro Propagation of (Isoetaceae): A Key Conservation Challenge for a Critically Endangered Quillwort.

is an aquatic quillwort endemic to Italy. It is one of the rarest quillworts in Europe, and is critically endangered due to restricted range and to the continuous decline of both population and habitat quality. This study aims to develop an optimized protocol to reproduce and grow sporelings.

Hydrogen Absorption in Pd-Ag Systems: A TPD and Electrical Resistivity Study.

Hydrogen retention in Pd-Ag (silver 21 wt. %) thin foil has been tested by means of temperature-programmed desorption (TPD) in the temperature range 25-200 °C and compared to the resistivity measurements for the purpose of explaining the characteristic S-shaped resistivity curve and its minimum observed in the same temperature range. The TPD results indicated that the highest uptake of hydrogen was between 65 °C and 105 °C, with a maximum at ~85 °C.

Phase Inversion in PVDF Films with Enhanced Piezoresponse Through Spin-Coating and Quenching.

In the present work, poly(vinylidene fluoride) (PVDF) films were produced by spin-coating, and applying different conditions of quenching, in order to investigate the dominant mechanism of the β-phase formation. The influence of the polymer/solvent mass ratio of the solution, the rotational speed of the spin-coater and the crystallization temperature of the film on both the β-phase content and the piezoelectric coefficient () were investigated. This study demonstrates that the highest values of are obtained when thinner films, produced with a lower concentration of polymer in the solvent (i.

Study of the effects of 0.15 terahertz radiation on genome integrity of adult fibroblasts.

The applications of Terahertz (THz) technologies have significantly developed in recent years, and the complete understanding of the biological effects of exposure to THz radiation is becoming increasingly important. In a previous study, we found that THz radiation induced genomic damage in fetal fibroblasts. Although these cells demonstrated to be a useful model, exposure of human foetuses to THz radiation is highly improbable.

The role of stoichiometry in superconducting NbSn: electronic and vibrational properties from ab initio calculations.

Using first principles calculations based on density functional theory, the electronic, vibrational and superconducting properties of compounds with different stoichiometry ratios in the A15 phase have been studied. To this purpose, the λ mass enhancement parameter, which determines the superconducting critical temperature through the Allen-Dynes modification of the McMillan formula, has been explicitly calculated in the context of the density functional perturbation theory that allows the calculation of the matrix elements of the electron-phonon interactions at different compositions related to the Sn content. Our results provide a better understanding of the inhomogeneous composition of one of the most widely employed low-temperature superconductors, evidencing the electronic properties and the phonon modes that are responsible for the critical temperature degradation as the Sn concentration is varied.

Biological effects of in vitro THz radiation exposure in human foetal fibroblasts.

In recent years, terahertz (THz) radiation has been widely used in a variety of applications: medical, security, telecommunications and military areas. However, few data are available on the biological effects of this type of electromagnetic radiation and the reported results, using different genetic or cellular assays, are quite discordant. This multidisciplinary study focuses on potential genotoxic and cytotoxic effects, evaluated by several end-points, associated with THz radiation.

Photo-induced gratings in thin color center layers on lithium fluoride.

We study the recording of permanent Bragg gratings on surface-colored lithium fluoride (LiF) crystals by using the interference pattern of a continuous-wave UV argon-ion laser operating at 244 nm. Gratings with spatial periodicity ranging from 400 to 1000 nm are written by using a phase-mask interferometer and are stable for several months after the writing process. Absorption and photoluminescence spectra show the bleaching of primary F and F -aggregate laser-active color centers as a result of the process.

Coloring linens with excimer lasers to simulate the body image of the Turin Shroud.

The body image of the Turin Shroud has not yet been explained by traditional science; so a great interest in a possible mechanism of image formation still exists. We present preliminary results of excimer laser irradiation (wavelength of 308 nm) of a raw linen fabric and of a linen cloth. The permanent coloration of both linens is a threshold effect of the laser beam intensity, and it can be achieved only in a narrow range of irradiation parameters, which are strongly dependent on the pulse width and time sequence of laser shots.