Hypermethioninaemia due to methionine adenosyltransferase I/III (MAT I/III) deficiency: diagnosis in an expanded neonatal screening programme

The Expanded Newborn Screening Program (MS/MS) in the region of Galicia (NW Spain) was initiated in 2000 and includes the measurement of methionine levels in dried blood spots. Between June 2000 and June 2007, 140 818 newborns were analysed, and six cases of persistent hypermethioninaemia were detected: one homocystinuria due to cystathionine β-synthase (CβS) deficiency, and five methionine adenosyltransferase I/III (MAT I/III) deficiencies. The five cases of MAT I/III deficiency represent an incidence of 1/28 163 newborns. In these five patients, methionine levels in dried blood spots ranged from 50 to 147 μmol/L. At confirmation of the persistence of the hypermethioninaemia in a subsequent plasma sample, plasma methionine concentrations were moderately elevated in 4 of the 5 patients (mean 256 μmol/L), while total homocysteine (tHcy) was normal; the remaining patient showed plasma methionine of 573 μmol/L and tHcy of 22.8 μmol/L. All five patients were heterozygous for the same dominant mutation, R264H in the MAT1A gene. With a diet not exceeding recommended protein requirements for their age, all patients maintained methionine levels below 300 μmol/L. Currently, with a mean of 2.5 years since diagnosis, the patients are asymptomatic and show developmental quotients within the normal range. Our results show a rather high frequency of hypermethioninaemia due to MAT I/III deficiency in the Galician neonatal population, indicating a need for further studies to evaluate the impact of persistent isolated hypermethioninaemia in neonatal screening programmes

Test results from the 70 MW Tidd PFBC Demonstration Plant

The 70 MWe Tidd PFBC Demonstration Plant in Brilliant, Ohio, the first PFBC demonstration Plant in North America, is in its third year of operation and testing. Operation of the Tidd Plant has provided invaluable experience with the systems required to apply PFBC technology to electric power generation. It has also provided operating data to verify the ability of the PFBC process to achieve a high degree of sulfur removal and low NO[sub x] emissions when burning high-sulfur bituminous coal. This paper provides an update on the operating experience of the Tidd PFBC Demonstration Plant, reviews the lessons teamed with PFBC technology in the start-up and debugging of the PFBC systems, and provides data from the operation and performance tests conducted at the Tidd Plant

Quantum confined acceptors and donors in InSe nanosheets

We report on the radiative recombination of photo-excited carriers bound at native donors and acceptors in exfoliated nanoflakes of nominally undoped rhombohedral gamma-polytype InSe. The binding energies of these states are found to increase with the decrease in flake thickness, L. We model their dependence on L using a two-dimensional hydrogenic model for impurities and show that they are strongly sensitive to the position of the impurities within the nanolayer. (c) 2014 Author(s). All article content, except where otherwise noted, is licensed under a Creative Commons Attribution 3.0 Unported License

The early Neolithic of Iraqi Kurdistan: current research at Bestansur, Shahrizor Plain

Human communities made the transition from hunter-foraging to more sedentary agriculture and herding at multiple locations across Southwest Asia through the Early Neolithic period (ca. 10,000-7000 cal. BC). Societies explored strategies involving increasing management and development of plants, animals, materials, technologies, and ideologies specific to each region whilst sharing some common attributes. Current research in the Eastern Fertile Crescent is contributing new insights into the Early Neolithic transition and the critical role that this region played. The Central Zagros Archaeological Project (CZAP) is investigating this transition in Iraqi Kurdistan, including at the earliest Neolithic settlement so far excavated in the region. In this article, we focus on results from ongoing excavations at the Early Neolithic site of Bestansur on the Shahrizor Plain, Sulaimaniyah province, in order to address key themes in the Neolithic transition

Room temperature electroluminescence from mechanically formed van der Waals III–VI homojunctions and heterojunctions

Room temperature electroluminescence from semiconductor junctions is demonstrated. The junctions are fabricated by the exfoliation and direct mechanical adhesion of InSe and GaSe van der Waals layered crystals. Homojunction diodes formed from layers of p- and n-type InSe exhibit electroluminescence at energies close to the bandgap energy of InSe (Eg= 1.26 eV). In contrast, heterojunction diodes formed by combining layers of p-type GaSe and n-type InSe emit photons at lower energies, which is attributed to the generation of spatially indirect excitons and a staggered valence band lineup for the holes at the GaSe/InSe interface. These results demonstrate the technological potential of mechanically formed heterojunctions and homojunctions of direct-bandgap layered GaSe and InSe compounds with an optical response over an extended wavelength range, from the near-infrared to the visible spectrum

Heteroepitaxial growth of ferromagnetic MnSb(0001) films on Ge/Si(111) virtual substrates

Molecular beam epitaxial growth of ferromagnetic MnSb(0001) has been achieved on high quality, fully relaxed Ge(111)/Si(111) virtual substrates grown by reduced pressure chemical vapor deposition. The epilayers were characterized using reflection high energy electron diffraction, synchrotron hard X-ray diffraction, X-ray photoemission spectroscopy, and magnetometry. The surface reconstructions, magnetic properties, crystalline quality, and strain relaxation behavior of the MnSb films are similar to those of MnSb grown on GaAs(111). In contrast to GaAs substrates, segregation of substrate atoms through the MnSb film does not occur, and alternative polymorphs of MnSb are absent

Quasar accretion disk sizes from continuum reverberation mapping in the DES standard-star fields

Measurements of the physical properties of accretion disks in active galactic nuclei are important for better understanding the growth and evolution of supermassive black holes. We present the accretion disk sizes of 22 quasars from continuum reverberation mapping with data from the Dark Energy Survey (DES) standard star fields and the supernova C fields. We construct continuum lightcurves with the \textit{griz} photometry that span five seasons of DES observations. These data sample the time variability of the quasars with a cadence as short as one day, which corresponds to a rest frame cadence that is a factor of a few higher than most previous work. We derive time lags between bands with both JAVELIN and the interpolated cross-correlation function method, and fit for accretion disk sizes using the JAVELIN Thin Disk model. These new measurements include disks around black holes with masses as small as $\sim10^7$ $M_{\odot}$, which have equivalent sizes at 2500\AA \, as small as $\sim 0.1$ light days in the rest frame. We find that most objects have accretion disk sizes consistent with the prediction of the standard thin disk model when we take disk variability into account. We have also simulated the expected yield of accretion disk measurements under various observational scenarios for the Large Synoptic Survey Telescope Deep Drilling Fields. We find that the number of disk measurements would increase significantly if the default cadence is changed from three days to two days or one day.Comment: 33 pages, 24 figure