Variants Cause Spastic Paraplegia Associated with Cerebral Hypomyelination

Oculodentodigital dysplasia is an autosomal dominant disorder due to variants characterized by dysmorphic features. Neurologic symptoms have been described in some patients but without a clear neuroimaging pattern. To understand the pathophysiology underlying neurologic deficits in oculodentodigital dysplasia, we studied 8 consecutive patients presenting with hereditary spastic paraplegia due to variants. Clinical disease severity was highly variable. Cerebral MR imaging revealed variable white matter abnormalities, consistent with a hypomyelination pattern, and bilateral hypointense signal of the basal ganglia on T2-weighted images and/or magnetic susceptibility sequences, as seen in neurodegeneration with brain iron accumulation diseases. Patients with the more prominent basal ganglia abnormalities were the most disabled ones. This study suggests that -related hereditary spastic paraplegia is a complex neurodegenerative disease affecting both the myelin and the basal ganglia. variants should be considered in patients with hereditary spastic paraplegia presenting with brain hypomyelination, especially if associated with neurodegeneration and a brain iron accumulation pattern

Feasibility of Electrified Propulsion for Ultra-Efficient Commercial Aircraft Final Report

MIT, Aurora Flight Sciences, and USC have collaborated to assess the feasibility of electric, hybridelectric, and turbo-electric propulsion for ultra-efficient commercial transportation. The work has drawn on the team expertise in disciplines related to aircraft design, propulsion-airframe integration, electric machines and systems, engineering system design, and optimization. A parametric trade space analysis has been carried out to assess vehicle performance across a range of transport missions and propulsion architectures to establish how electrified propulsion systems scale. An optimization approach to vehicle conceptual design modeling was taken to enable rapid multidisciplinary design space exploration and sensitivity analysis. The results of the analysis indicate vehicle aero-propulsive integration benefits enabled by electrification are required to offset the increased weight and loss associated with the electric system and achieve enhanced performance; the report describes the conceptual configurations than can offer such enhancements. The main contribution of the present work is the definition of electric vehicle design attributes for potential efficiency improvements at different scales. Based on these results, key areas for future research are identified, and extensions to the trade space analysis suitable for higher fidelity electrified commercial aircraft design and analysis have been developed

Constraints on Titan's middle atmosphere ammonia abundance from Herschel/SPIRE sub-millimetre spectra

Sub-millimetre spectra measured with Herschel's SPIRE Fourier Transform Spectrometer were used to search for ammonia (NH3) in Titan's stratosphere. Observations were taken during 2010 and 2011, just after Titan's northern spring equinox, which occurred in mid-2009. In our analysis we used high spectral resolution data (0.074 cm-1 apodised) from the SPIRE shortwave spectrometer array (SSW), which provided the best possible signal-to-noise ratio for detecting any NH3 emission features. These data have the most sensitivity to NH3 spectral emission of any currently available observations, although despite this we did not detect any significant emission features above the noise. However, we can place an improved 3-sigma upper limit on NH3 abundance of <0.19ppb for altitudes 65-110 km (75 km peak sensitivity), or alternatively a column abundance of <1.23×1015molecules/cm2. These observations provide modest constraint for future photochemical models and are consistent with most current stratospheric predictions. Scaling of photochemical model profiles, in order to fit elevated abundances observed at 1100 km by Cassini's INMS instrument, are for the most part also consistent with our observations. © 2012 Elsevier Ltd

Large Deformation Effects in the N = Z 44Ti Compound Nucleus

The N = Z 44Ti* nucleus has been populated in Fusion Evaporation process at very high excitation energies and angular momenta using two entrance channels with different mass-asymmetry. The deformation effects in the rapidly rotating nuclei have been investigated through the energy distribution of the alpha-particle combined to statistical-model calculations. In the case of low-multiplicity events, the ratio between first particle emitted has been measured and shows significant disagreement with the predictions of the statistical-model. This may explain The large discrepancies observed in proton energy spectra measured in previous experiments performed in the same mass region.Comment: Proceeding of the 10th International Conference on Nuclear Reaction Mechanisms, Varenna Italy, June 9-13 2003. 10 pages, 6 figures, 1 tabl

Specific antibodies to Anopheles gSG6-P1 salivary peptide to assess early childhood exposure to malaria vector bites

Background: The estimates of risk of malaria in early childhood are imprecise given the current entomologic and parasitological tools. Thus, the utility of anti-Anopheles salivary gSG6-P1 peptide antibody responses in measuring exposure to Anopheles bites during early infancy has been assessed. Methods: Anti-gSG6-P1 IgG and IgM levels were evaluated in 133 infants (in Benin) at three (M3), six (M6), nine (M9) and 12 (M12) months of age. Specific IgG levels were also assessed in their respective umbilical cord blood (IUCB) and maternal blood (MPB). Results: At M3, 93.98 and 41.35% of infants had anti-gSG6-P1 IgG and IgM Ab, respectively. Specific median IgG and IgM levels gradually increased between M3 and M6 (p < 0.0001 and p < 0.001), M6-M9 (p < 0.0001 and p = 0.085) and M9-M12 (p = 0.002 and p = 0.03). These levels were positively associated with the Plasmodium falciparum infection intensity (p = 0.006 and 0.003), and inversely with the use of insecticide-treated bed nets (p = 0.003 and 0.3). Levels of specific IgG in the MPB were positively correlated to those in the IUCB (R = 0.73; p < 0.0001) and those at M3 (R = 0.34; p < 0.0001). Conclusion: The exposure level to Anopheles bites, and then the risk of malaria infection, can be evaluated in young infants by assessing anti-gSG6-P1 IgM and IgG responses before and after 6-months of age, respectively. This tool can be useful in epidemiological evaluation and surveillance of malaria risk during the first year of life

Deformation of the N=Z nucleus 76Sr using beta-decay studies

A novel method of deducing the deformation of the N=Z nucleus 76Sr is presented. It is based on the comparison of the experimental Gamow-Teller strength distribution B(GT) from its beta decay with the results of QRPA calculations. This method confirms previous indications of the strong prolate deformation of this nucleus in a totally independent way. The measurement has been carried out with a large Total Absorption gamma Spectrometer, "Lucrecia", newly installed at CERN-ISOLDE.Comment: Accepted in Phys. Rev. Letter

Binary reaction decays from 24Mg+12C

Charged particle and gamma decays in 24Mg* are investigated for excitation energies where quasimolecular resonances appear in 12C+12C collisions. Various theoretical predictions for the occurence of superdeformed and hyperdeformed bands associated with resonance structures with low spin are discussed within the measured 24Mg* excitation energy region. The inverse kinematics reaction 24Mg+12C is studied at E_lab(24Mg) = 130 MeV, an energy which enables the population of 24Mg states decaying into 12C+12C resonant break-up states. Exclusive data were collected with the Binary Reaction Spectrometer in coincidence with EUROBALL IV installed at the VIVITRON Tandem facility at Strasbourg. Specific structures with large deformation were selectively populated in binary reactions and their associated gamma decays studied. Coincident events associated with inelastic and alpha-transfer channels have been selected by choosing the excitation energy or the entry point via the two-body Q-values. The analysis of the binary reaction channels is presented with a particular emphasis on 24Mg-gamma, 20Ne-gamma and 16O-gamma coincidences. New information (spin and branching ratios) is deduced on high-energy states in 24Mg and 16O, respectively.Comment: 27 pages, 8 figures, 1 tabl

Clusters in Light Nuclei

A great deal of research work has been undertaken in the alpha-clustering study since the pioneering discovery, half a century ago, of 12C+12C molecular resonances. Our knowledge of the field of the physics of nuclear molecules has increased considerably and nuclear clustering remains one of the most fruitful domains of nuclear physics, facing some of the greatest challenges and opportunities in the years ahead. In this work, the occurence of "exotic" shapes in light N=Z alpha-like nuclei is investigated. Various approaches of superdeformed and hyperdeformed bands associated with quasimolecular resonant structures are presented. Results on clustering aspects are also discussed for light neutron-rich Oxygen isotopes.Comment: 12 pages, 5 figures. Invited Talk presented by C. Beck at the Zakopane Conference on Nuclear Physics "Extremes of the Nuclear Landscape" XLV in the series of Zakopane Schools of Physics - International Symposium - Zakopane, Poland, August 30 - September 5, 2010.To be publihed in Acta Physica Polonica B42 no 3, March 201

IFE Plant Technology Overview and contribution to HiPER proposal

HiPER is the European Project for Laser Fusion that has been able to join 26 institutions and signed under formal government agreement by 6 countries inside the ESFRI Program of the European Union (EU). The project is already extended by EU for two years more (until 2013) after its first preparatory phase from 2008. A large work has been developed in different areas to arrive to a design of repetitive operation of Laser Fusion Reactor, and decisions are envisioned in the next phase of Technology Development or Risk Reduction for Engineering or Power Plant facilities (or both). Chamber design has been very much completed for Engineering phase and starting of preliminary options for Reactor Power Plant have been established and review here