We report the identification of a novel mutation at a highly conserved residue within the N-terminal region of spermine synthase (SMS) in a second family with Snyder-Robinson X-linked mental retardation syndrome (OMIM 309583). This missense mutation, p.G56S, greatly reduces SMS activity and leads to severe epilepsy and cognitive impairment. Our findings contribute to a better delineation and ex...

Defect engineering plays an important role in tailoring the electronic transport properties of van der Waals materials. Methods reported so far mainly rely on $e\phantom{\rule{0}{0ex}}x\phantom{\rule{0.333em}{0ex}}s\phantom{\rule{0}{0ex}}i\phantom{\rule{0}{0ex}}t\phantom{\rule{0}{0ex}}u$ defect type and concentration, hindering realization new types device functionalities associated with engine...

background: the aim of this work was to establish how well gel dosimeters performed, as substitutes for brain tissue compared with standard phantom materials such as water, polymethyl-methacrylate (or pmma), a150 plastic and te- liquid phantom material for dosimetry of neutron beams in boron neutron capture therapy. materials and methods: thermal neutron fluence, photon dose and epithermal neut...

The $R(1)$, $R(3)$, and $P(3)$ rovibrational transitions in the (2-0) overtone band of HD molecule are measured Doppler-free saturation using technique NICE-OHMS spectroscopy. For line, hitherto not observed saturation, we report a frequency $203\phantom{\rule{0.16em}{0ex}}821\phantom{\rule{0.16em}{0ex}}936\phantom{\rule{0.16em}{0ex}}805\phantom{\rule{0.16em}{0ex}}(60)$ kHz. dispersive line sha...

Review of
 Darrin W. Snyder Belousek, Marriage, Scripture, and the Church: Theological Discernment on Question of Same-Sex Union (Grand Rapids, MI: Baker, 2021), pp. xxi + 330, ISBN 978-1540961839. £21.99

this book makes abundantly clear the sustained freshness of snyder path-breaking and dauntingly original work, which has long set the agenda for the systematic explanation of foreign policy decisions. thevery thoughtful essays prepared for the present volume demonstrate dramatically the continued centrality of the issues snyder and his associates raised more than 40 years ago. prescient in its ...

BACKGROUND In integrated PET/MR hybrid imaging the evaluation of PET performance characteristics according to the NEMA standard NU 2-2007 is challenging because of incomplete MR-based attenuation correction (AC) for phantom imaging. In this study, a strategy for CT-based AC of the NEMA image quality (IQ) phantom is assessed. The method is systematically evaluated in NEMA IQ phantom measurements...

Using a mail-delivered questionnaire, we surveyed 590 veteran amputees concerning phantom pain, phantom sensation and stump pain. They were selected randomly from a population of 2974 veterans with long-standing limb amputation(s) using a computer random number generator. Eighty-nine percent responded and of these, 55% reported phantom limb pain and 56% stump pain. There was a strong correlatio...