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The SCN5A gene is implicated in many arrhythmogenic and cardiomyopathic processes. We identified a novel SCN5A variant in a family with significant segregation in individuals affected with progressive sinus and atrioventricular nodal disease, atrial arrhythmia, dilated cardiomyopathy, and early sudden cardiac arrest.
A patient pedigree was created following the clinical evaluation of three affected individuals, two monozygotic twins and a paternal half-brother, which lead to the evaluation of a paternal half-sister (four siblings with the same father and three mothers) all of whom experienced varying degrees of atrial arrhythmias, conduction disease, and dilated cardiomyopathy in addition to a paternal history of unexplained death in his 50s with similar autopsy findings. The index male underwent sequencing of 58 genes associated with cardiomyopathies. Sanger sequencing was used to provide data for bases with insufficient coverage and for bases in some known regions of genomic segmental duplications. All clinically significant and novel variants were confirmed by independent Sanger sequencing.
All relatives tested were shown to have the same SCN5A variant of unknown significance (p. Asp197His) and the monozygotic twins shared a co-occurring NEXN (p. Glu575*). Segregation analysis demonstrates likely pathogenic trait for the SCN5A variant with an additional possible role for the NEXN variant in combination.
There is compelling clinical evidence suggesting that the SCN5A variant p. Asp197His may be re-classified as likely pathogenic based on the segregation analysis of our family of interest. Molecular mechanism studies are pending.
We investigate whether the currently available Galactic Cepheid kinematic data can put interesting constraints on large scale low amplitude non-axisymmetry of the Galactic plane rotation pattern. In this connection we address the experimental design problem of where in the Galactic plane additional Cepheids would prove the most useful for the axisymmetric and the non-axisymmetric modeling of the kinematics.
The discovery of the first electromagnetic counterpart to a gravitational wave signal has generated follow-up observations by over 50 facilities world-wide, ushering in the new era of multi-messenger astronomy. In this paper, we present follow-up observations of the gravitational wave event GW170817 and its electromagnetic counterpart SSS17a/DLT17ck (IAU label AT2017gfo) by 14 Australian telescopes and partner observatories as part of Australian-based and Australian-led research programs. We report early- to late-time multi-wavelength observations, including optical imaging and spectroscopy, mid-infrared imaging, radio imaging, and searches for fast radio bursts. Our optical spectra reveal that the transient source emission cooled from approximately 6 400 K to 2 100 K over a 7-d period and produced no significant optical emission lines. The spectral profiles, cooling rate, and photometric light curves are consistent with the expected outburst and subsequent processes of a binary neutron star merger. Star formation in the host galaxy probably ceased at least a Gyr ago, although there is evidence for a galaxy merger. Binary pulsars with short (100 Myr) decay times are therefore unlikely progenitors, but pulsars like PSR B1534+12 with its 2.7 Gyr coalescence time could produce such a merger. The displacement (~2.2 kpc) of the binary star system from the centre of the main galaxy is not unusual for stars in the host galaxy or stars originating in the merging galaxy, and therefore any constraints on the kick velocity imparted to the progenitor are poor.
The Molonglo Observatory Synthesis Telescope (MOST) is an 18000 m2 radio telescope located 40 km from Canberra, Australia. Its operating band (820–851 MHz) is partly allocated to telecommunications, making radio astronomy challenging. We describe how the deployment of new digital receivers, Field Programmable Gate Array-based filterbanks, and server-class computers equipped with 43 Graphics Processing Units, has transformed the telescope into a versatile new instrument (UTMOST) for studying the radio sky on millisecond timescales. UTMOST has 10 times the bandwidth and double the field of view compared to the MOST, and voltage record and playback capability has facilitated rapid implementaton of many new observing modes, most of which operate commensally. UTMOST can simultaneously excise interference, make maps, coherently dedisperse pulsars, and perform real-time searches of coherent fan-beams for dispersed single pulses. UTMOST operates as a robotic facility, deciding how to efficiently target pulsars and how long to stay on source via real-time pulsar folding, while searching for single pulse events. Regular timing of over 300 pulsars has yielded seven pulsar glitches and three Fast Radio Bursts during commissioning. UTMOST demonstrates that if sufficient signal processing is applied to voltage streams, innovative science remains possible even in hostile radio frequency environments.
The class of radio transients called Fast Radio Bursts (FRBs) encompasses enigmatic single pulses, each unique in its own way, hindering a consensus for their origin. The key to demystifying FRBs lies in discovering many of them in order to identity commonalities – and in real time, in order to find potential counterparts at other wavelengths. The recently upgraded UTMOST in Australia, is undergoing a backend transformation to rise as a fast transient detection machine. The first interferometric detections of FRBs with UTMOST, place their origin beyond the near-field region of the telescope thus ruling out local sources of interference as a possible origin. We have localised these bursts to much better than the ones discovered at the Parkes radio telescope and have plans to upgrade UTMOST to be capable of much better localisation still.
Post-traumatic stress disorder (PTSD) is associated with elevated risk for metabolic syndrome (MetS). However, the direction of this association is not yet established, as most prior studies employed cross-sectional designs. The primary goal of this study was to evaluate bidirectional associations between PTSD and MetS using a longitudinal design.
A total of 1355 male and female veterans of the conflicts in Iraq and Afghanistan underwent PTSD diagnostic assessments and their biometric profiles pertaining to MetS were extracted from the electronic medical record at two time points (spanning ~2.5 years, n = 971 at time 2).
The prevalence of MetS among veterans with PTSD was just under 40% at both time points and was significantly greater than that for veterans without PTSD; the prevalence of MetS among those with PTSD was also elevated relative to age-matched population estimates. Cross-lagged panel models revealed that PTSD severity predicted subsequent increases in MetS severity (β = 0.08, p = 0.002), after controlling for initial MetS severity, but MetS did not predict later PTSD symptoms. Logistic regression results suggested that for every 10 PTSD symptoms endorsed at time 1, the odds of a subsequent MetS diagnosis increased by 56%.
Results highlight the substantial cardiometabolic concerns of young veterans with PTSD and raise the possibility that PTSD may predispose individuals to accelerated aging, in part, manifested clinically as MetS. This demonstrates the need to identify those with PTSD at greatest risk for MetS and to develop interventions that improve both conditions.
Free-form deformation (FFD) is a method first introduced within the graphics industry to enable flexible deformation of geometric models. FFD uses an R3 to R3 mapping of a deformable space to the global Cartesian space to produce the geometry deformation. This method has been extensively used within the design optimisation field as a shape parameterisation technique. Typically it has been used to parameterise analysis meshes, where new design geometries are produced by deforming the original mesh. This method allows a concise set of design variables to be used while maintaining a flexible shape representation. However, if a computer aided design (CAD) model of the resulting geometry is required, reverse engineering techniques would need to be utilised to recreate the model from the deformed mesh. This paper extends the use of FFD within an optimisation routine by using FFD to directly parameterise a CAD geometry. Two methods of linking the FFD methods with the CATIA V5 CAD package are presented. Each CAD integration technique is then critiqued with respect to shape optimisation. Finally the set-up and initialisation of a case study is illustrated. The case study chosen is the aerodynamic optimisation of the wing-fuselage junction of a typical passenger aircraft.
Cu(In, Ga)Se2 (CIGS) solar cells are under investigation for 1-sun and concentrator applications. Design criteria are examined and reveal that only grid design modifications are required. In the special case where cell width dimensions are 4–5 cm, an interdigitated design removes the back contact as a loss mechanism. Processing issues relating to the intrinsic ZnO layer are critical to optimal and reproducible cell performance. 1-sun and 20 sun performance of 17.7% are reported for different cells. The latter represents a 2.9% absolute improvement over the 1-sun control measurement. 20% performance is therefore a realistic goal. CIGS-based cells represent a viable concentrator technology.
To fabricate a high-efficiency polycrystalline thin-film tandem cell, the most critical work is to make a high-efficiency top cell (>15%) with high bandgap (Eg=1.5-1.8 eV) and high transmission (T>70%) in the near-infrared (NIR) wavelength region. The CdTe cell is one of the candidates for the top cell, because CdTe state-of-the-art single-junction devices with efficiencies of more than 16% are available, although its bandgap (1.48 eV) is slightly lower for a top cell in a dual-junction device. In this paper, we focus on the development of an ultra-thin, low-bandgap CuxTe transparent back-contact to produce high-efficiency CdTe cells with high NIR transmission. We have achieved an NREL-confirmed 13.9%-efficient CdTe transparent solar cell with an infrared transmission of ~50% and a CdTe/CIS polycrystalline mechanically stacked thin-film tandem cell with an NREL-confirmed efficiency of 15.3%.
In May 2000, public health authorities in Dublin, Ireland, identified a cluster of unexplained severe illness among injecting drug users (IDUs). Similar clusters were also reported in Scotland and England. Concurrent investigations were undertaken to identify the aetiology and source of the illnesses. In Dublin, 22 IDUs were identified with injection-site inflammation resulting in hospitalization or death; eight (36%) died. Common clinical findings among patients with severe systemic symptoms included leukaemoid reaction and cardiogenic shock. Seventeen (77%) patients reported injecting heroin intramuscularly in the 2 weeks before illness. Of 11 patients with adequate specimens available for testing, two (18%) were positive by 16S rDNA PCR for Clostridium novyi. Clinical and laboratory findings suggested that histotoxic Clostridia caused a subset of infections in these related clusters. Empiric treatment for infections among IDUs was optimized for anaerobic organisms, and outreach led to increased enrolment in methadone treatment in Dublin. Many unique legal, medical, and public health challenges were encountered during the investigation of this outbreak.
It is difficult to accurately identify Mycosphaerella species associated with leaf diseases of Eucalyptus based on morphological characters, as there is considerable overlap between very similar species and subspecies, and isolation from the host is not easy. Thus, a PCR and RFLP assay based on the ITS region of nr DNA was developed for the rapid detection and differentiation of M. nubilosa, M. cryptica and two non-sporing unidentified Mycosphaerella species isolated from the foliage of trees in resistant and susceptible families of E. globulus in a seed orchard at Kinglake West, Victoria, Australia. The M. nubilosa primer pair MNF/MNR was highly specific. A PCR-RFLP system based on the primer pair MCF/MCR, coupled with two restriction enzymes (DdeI and Tru1I), differentiated M. cryptica, M. nubilosa, M. tasmaniensis and M. aff. vespa. One of the unidentified field-isolated Mycosphaerella species was identified as M. grandis on the basis of ITS sequence data while the other species remains unidentified. A PCR-RFLP system based on the primer pair U1F/U1R, coupled with the restriction enzyme StyI, differentiated between the two unidentified species. Unexpectedly, unlike isolation and culture studies, these assays detected M. nubilosa, M. cryptica and M. grandis in all single lesions examined on both juvenile and adult leaves, and on both highly resistant and highly susceptible E. globulus trees at this site.
We present some significant results of collisional excitation X-ray laser experiments in plasmas produced by a laser. We studied the amplification in Ne- and Ni-like ions by varying both the nature and the thickness of targets, the irradiation, and the wavelength of the driving laser. Some potentially interesting scalings as a function of the atomic number of the lasing element are demonstrated in the Ne-like system. An order-of-magnitude increase in gain in the Ni-like experiments was determined.
In the paper a probabilistic coupling between the M/G/1 processor sharing queue and the M/M/1 feedback queue, with general feedback probabilities, is established. This coupling is then used to prove the almost sure convergence of sojourn times in the feedback model to sojourn times in the M/G/1 processor sharing queue. Using the theory of regenerative processes it follows that for stable queues the stationary distribution of the sojourn time in the feedback model converges in law to the corresponding distribution in the processor sharing model. The results do not depend on Poisson arrival times, but are also valid for general arrival processes.
Recent advances in X-ray laser research have significantly increased the possibilities for X-ray laser applications. In this paper, we report the first demonstration of pointing and focusing of a soft X-ray laser beam. A LLNL selenium soft X-ray laser at 206 and 209 Å was used in these experiments. Two state of the art 76 mm diameter multilayer mirrors were used to collimate and refocus the laser onto a set of cross hairs which were constructed from 100 μm diameter wires. The cross hairs were located 4.6 m from the X-ray laser source. Results show that the laser can be pointed to within 75 μrad and focused to a 235 μm diameter spot. It is expected that eventually spot sizes near 100 μm and flux levels of 100J/cm2 at X-ray irradiances up to 1012W/cm2 can be provided to a remote application, using a similar beam relaying system.
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