Glycerol kinase deficiency (GKD) is an X-linked inborn error of metabolism at the interface of fat and carbohydrate metabolism. We report a male patient with GKD and a novel insertion of TT in exon 5 at position 378 of the GK cDNA (378-379insTT). This resulted in a premature stop codon and 0.8% normal GK activity. The mother is a carrier for this mutation and had gestational diabetes requiring insulin during this pregnancy but not in her previous pregnancy. Given the association between GKD and type 2 diabetes mellitus, it is interesting that the mother had gestational diabetes while carrying an affected fetus. Therefore, GKD is another disease where there may be a maternal-fetal interaction based on genotype. Further investigations may help elucidate the role of GKD in the carrier mother's gestational diabetes. In addition, these studies will provide better-informed counseling to families with GKD regarding the risk to carrier females.

Particle production and correlation functions from Au+Au reactions have been measured as a function of both beam energy (2-10.7AGeV) and impact parameter. These results are used to probe the dynamics of heavy-ion reactions, confront hadronic models over a wide range of conditions and to search for the onset of new phenomena.

This corrects the article DOI: 10.1103/PhysRevLett.119.162501.

Research reactors host a wide range of activities that make use of the intense neutron fluxes generated at these facilities. Recent interest in performing measurements with relatively low event rates, e.g. reactor antineutrino detection, at these facilities necessitates a detailed understanding of background radiation fields. Both reactor-correlated and naturally occurring background sources are potentially important, even at levels well below those of importance for typical activities. Here we describe a comprehensive series of background assessments at three high-power research reactors, including γ-ray, neutron, and muon measurements. For each facility we describe the characteristics and identify the sources of the background fields encountered. The general understanding gained of background production mechanisms and their relationship to facility features will prove valuable for the planning of any sensitive measurement conducted therein.

The charge and magnetic form factors, F_{C} and F_{M}, respectively, of ^{3}He are extracted in the kinematic range 25  fm^{-2}≤Q^{2}≤61  fm^{-2} from elastic electron scattering by detecting ^{3}He recoil nuclei and scattered electrons in coincidence with the two High Resolution Spectrometers of the Hall A Facility at Jefferson Lab. The measurements find evidence for the existence of a second diffraction minimum for the magnetic form factor at Q^{2}=49.3  fm^{-2} and for the charge form factor at Q^{2}=62.0  fm^{-2}. Both minima are predicted to exist in the Q^{2} range accessible by this Jefferson Lab experiment. The data are in qualitative agreement with theoretical calculations based on realistic interactions and accurate methods to solve the three-body nuclear problem.

A meter-long, 23-liter EJ-309 liquid scintillator detector has been constructed to study the light collection and pulse-shape discrimination performance of elongated scintillator cells for the PROSPECT reactor antineutrino experiment. The magnitude and uniformity of light collection and neutron-gamma discrimination power in the energy range of antineutrino inverse beta decay products have been studied using gamma and spontaneous fission calibration sources deployed along the cell axis. We also study neutron-gamma discrimination and light collection abilities for differing PMT and reflector configurations. Key design features for optimizing MeV-scale response and background rejection capabilities are identified.

Measurements of elastic electron scattering data within the past decade have highlighted two-photon exchange contributions as a necessary ingredient in theoretical calculations to precisely evaluate hydrogen elastic scattering cross sections. This correction can modify the cross section at the few percent level. In contrast, dispersive effects can cause significantly larger changes from the Born approximation. The purpose of this experiment is to extract the carbon-12 elastic cross section around the first diffraction minimum, where the Born term contributions to the cross section are small to maximize the sensitivity to dispersive effects. The analysis uses the LEDEX data from the high resolution Jefferson Lab Hall A spectrometers to extract the cross sections near the first diffraction minimum of 12C at beam energies of 362 MeV and 685 MeV. The results are in very good agreement with previous world data, although with less precision. The average deviation from a static nuclear charge distribution expected from linear and quadratic fits indicate a 30.6% contribution of dispersive effects to the cross section at 1 GeV. The magnitude of the dispersive effects near the first diffraction minimum of 12C has been confirmed to be large with a strong energy dependence and could account for a large fraction of the magnitude for the observed quenching of the longitudinal nuclear response. These effects could also be important for nuclei radii extracted from parity-violating asymmetries measured near a diffraction minimum.

The strong interaction is not well understood at low energies or for interactions with low momentum transfer. Chiral perturbation theory gives testable predictions for the nucleonic generalized polarizabilities, which are fundamental quantities describing the nucleon’s response to an external field. We report a measurement of the proton’s generalized spin polarizabilities extracted with a polarized electron beam and a polarized solid ammonia target in the region where chiral perturbation theory is expected to be valid. The investigated structure function g2 characterizes the internal spin structure of the proton. From its moments, we extract the longitudinal–transverse spin polarizability δLT and twist-3 matrix element and polarizability d2¯. Our results provide discriminating power between existing chiral perturbation theory calculations and will help provide a better understanding of this strong quantum chromodynamics regime.

In the original PDF online version of this article, the references 22–26 were missing.These are the missing references.