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

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

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