Cerebrofaciothoracic dysplasia: four new patients with a recurrent TMCO1 pathogenic variant.

Biallelic loss of function variants in the TMCO1 gene have been previously demonstrated to result in cerebrofaciothoracic dysplasia (CFTD; MIM #213980). The phenotype of this condition includes severe intellectual disability, as well as distinctive craniofacial features, including brachycephaly, synophrys, arched eyebrows, "cupid's bow" upper lip, and microdontia. In addition, nonspecific skeletal anomalies are common, including bifid ribs, scoliosis, and spinal fusion. Only 19 molecularly confirmed patients have been previously described. Here, we present four patients with CFTD, including three brothers from a Pakistani background and an additional unrelated white Scottish patient. All share the characteristic craniofacial appearance, with severe intellectual disability and skeletal abnormalities. We further define the phenotype with comparison to the published literature, and present images to define the dysmorphic features in a previously unreported ethnic group. All of our patient series are homozygous for the same c.292_293del (p.Ser98*) TMCO1 pathogenic variant, which has been previously reported only in an isolated Amish population. Thus we provide evidence that CFTD may be more common than previously thought. The patients presented here further delineate the phenotypic spectrum of CFTD and provide evidence for a recurrent pathogenic variant in TMCO1

Response of the Jovian thermosphere to a transient ‘pulse’ in solar wind pressure

The importance of the Jovian thermosphere with regard to magnetosphere-ionosphere coupling is often neglected in magnetospheric physics. We present the first study to investigate the response of the Jovian thermosphere to transient variations in solar wind dynamic pressure, using an azimuthally symmetric global circulation model coupled to a simple magnetosphere and fixed auroral conductivity model. In our simulations, the Jovian magnetosphere encounters a solar wind shock or rarefaction region and is subsequently compressed or expanded. We present the ensuing response of the coupling currents, thermospheric flows, heating and cooling terms, and the aurora to these transient events. Transient compressions cause the reversal, with respect to steady state, of magnetosphere-ionosphere coupling currents and momentum transfer between the thermosphere and magnetosphere. They also cause at least a factor of two increase in the Joule heating rate. Ion drag significantly changes the kinetic energy of the thermospheric neutrals depending on whether the magnetosphere is compressed or expanded. Local temperature variations appear between View the MathML source for the compression scenario and View the MathML source for the expansion case. Extended regions of equatorward flow develop in the wake of compression events - we discuss the implications of this behaviour for global energy transport. Both compressions and expansions lead to a View the MathML source increase in the total power dissipated or deposited in the thermosphere. In terms of auroral processes, transient compressions increase main oval UV emission by a factor of ∼4.5 whilst transient expansions increase this main emission by a more modest 37%. Both types of transient event cause shifts in the position of the main oval, of up to 1° latitude

The Fueling and Evolution of AGN: Internal and External Triggers

In this chapter, I review the fueling and evolution of active galactic nuclei (AGN) under the influence of internal and external triggers, namely intrinsic properties of host galaxies (morphological or Hubble type, color, presence of bars and other non-axisymmetric features, etc) and external factors such as environment and interactions. The most daunting challenge in fueling AGN is arguably the angular momentum problem as even matter located at a radius of a few hundred pc must lose more than 99.99 % of its specific angular momentum before it is fit for consumption by a BH. I review mass accretion rates, angular momentum requirements, the effectiveness of different fueling mechanisms, and the growth and mass density of black BHs at different epochs. I discuss connections between the nuclear and larger-scale properties of AGN, both locally and at intermediate redshifts, outlining some recent results from the GEMS and GOODS HST surveys.Comment: Invited Review Chapter to appear in LNP Volume on "AGN Physics on All Scales", Chapter 6, in press. 40 pages, 12 figures. Typo in Eq 5 correcte

Test beam performance measurements for the Phase I upgrade of the CMS pixel detector

A new pixel detector for the CMS experiment was built in order to cope with the instantaneous luminosities anticipated for the Phase I Upgrade of the LHC. The new CMS pixel detector provides four-hit tracking with a reduced material budget as well as new cooling and powering schemes. A new front-end readout chip mitigates buffering and bandwidth limitations, and allows operation at low comparator thresholds. In this paper, comprehensive test beam studies are presented, which have been conducted to verify the design and to quantify the performance of the new detector assemblies in terms of tracking efficiency and spatial resolution. Under optimal conditions, the tracking efficiency is (99.95 ± 0.05) %, while the intrinsic spatial resolutions are (4.80 ± 0.25) μm and (7.99 ± 0.21) μm along the 100 μm and 150 μm pixel pitch, respectively. The findings are compared to a detailed Monte Carlo simulation of the pixel detector and good agreement is found.Peer reviewe

Search for leptophobic Z ' bosons decaying into four-lepton final states in proton-proton collisions at root s=8 TeV

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Search for black holes and other new phenomena in high-multiplicity final states in proton-proton collisions at root s=13 TeV

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Measurements of differential production cross sections for a Z boson in association with jets in pp collisions at root s=8 TeV

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