CNV and nervous system diseases - what's new?

Several new genomic disorders caused by copy number variation (CNV) of genes whose dosage is critical for the physiological function of the nervous system have been recently identified. Dup(7)(q11.23) patients carry duplications of the genomic region deleted in Williams-Beuren syndrome, they are characterized by prominent speech delay. The phenotypes of Potocki-Lupski syndrome and MECP2 duplication syndrome were neuropsychologically examined in detail, which revealed autism as an endophenotype and a prominent behavioral feature of these disorders. Tandem duplication of LMNB1 was reported to cause adult-onset autosomal dominant leukodystrophy. PAFAH1B1/LIS1 and YWHAE, which were deleted in isolated lissencephaly (PAFAH1B1/LIS1 alone) and Miller-Dieker syndrome (both genes), were found to be duplicated in patients with developmental delay. Finally, two novel microdeletion syndromes affecting 17q21.31 and 15q13.3, as well as their reciprocal duplications, were also identified. In this review, we provide an overview of the phenotypic manifestation of these syndromes and the rearrangements causing them. Copyright (C) 2009 S. Karger AG, Base

Single-Particle Tunneling in Doped Graphene-Insulator-Graphene Junctions

The characteristics of tunnel junctions formed between n- and p-doped graphene are investigated theoretically. The single-particle tunnel current that flows between the two-dimensional electronic states of the graphene (2D-2D tunneling) is evaluated. At a voltage bias such that the Dirac points of the two electrodes are aligned, a large resonant current peak is produced. The magnitude and width of this peak is computed, and its use for devices is discussed. The influence of both rotational alignment of the graphene electrodes and structural perfection of the graphene is discussed.Comment: 23 pages, 9 figures; added Section II(E) and associated figures, and made other minor typographical correction

On the masses of black-holes in radio-loud quasars

The central black-hole masses of a sample of radio-loud quasars are estimated by using the data of $H_{\beta}$ line-width and the optical continuum luminosity. The vast majority of the quasars in this sample have black-hole masses larger than $10^{8} M_{\odot}$, while a few quasars may contain relatively smaller black-holes. We found a significant anti-correlation between the radio-loudness and the central black-hole mass. It might imply that the jet formation is governed by the black-hole mass.Comment: 5 pages, two figures are added, accepted by MNRAS Letter

Observer-based Fault Detection and Diagnosis for Mechanical Transmission Systems with Sensorless Variable Speed Drives

Observer based approaches are commonly embedded in sensorless variable speed drives for the purpose of speed control. It estimates system variables to produce errors or residual signals in conjunction with corresponding measurements. The residual signals then are relied to tune control parameters to maintain operational performance even if there are considerable disturbances such as noises and component faults. Obviously, this control strategy outcomes robust control performances. However, it may produce adverse consequences to the system when faults progress to high severity. To prevent the occurrences of such consequences, this research proposes the utilisation of residual signals as detection features to raise alerts for incipient faults. Based on a gear transmission system with a sensorless variable speed drive (VSD), observers for speed, flux and torque are developed for examining their residuals under two mechanical faults: tooth breakage with different degrees of severities and shortage of lubricant at different levels are investigated. It shows that power residual signals can be based on to indicate different faults, showing that the observer based approaches are effective for monitoring VSD based mechanical systems. Moreover, it also shows that these two types fault can be separated based on the dynamic components in the voltage signals