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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.
Firefighters represent an important population for understanding the consequences of exposure to potentially traumatic stressors.
The researchers were interested in the effects of pre-employment disaster exposure on firefighter recruits’ depression and posttraumatic stress disorder (PTSD) symptoms during the first three years of fire service and hypothesized that: (1) disaster-exposed firefighters would have greater depression and PTSD symptoms than non-exposed overall; and (2) depression and PTSD symptoms would worsen over years in fire service in exposed firefighters, but not in their unexposed counterparts.
In a baseline interview, 35 male firefighter recruits from seven US cities reported lifetime exposure to natural disaster. These disaster-exposed male firefighter recruits were matched on age, city, and education with non-exposed recruits.
A generalized linear mixed model revealed a significant exposure×time interaction (ecoef =1.04; P<.001), such that depression symptoms increased with time for those with pre-employment disaster exposure only. This pattern persisted after controlling for social support from colleagues (ecoefficient=1.05; P<.001), social support from families (ecoefficient=1.04; P=.001), and on-the-job trauma exposure (coefficient=0.06; ecoefficient=1.11; P<.001). Posttraumatic stress disorder symptoms did not vary significantly between exposure groups at baseline (P=.61).
Depression symptoms increased with time for those with pre-employment disaster exposure only, even after controlling for social support. Posttraumatic stress disorder symptoms did not vary between exposure groups.
PenningtonML, CarpenterTP, SynettSJ, TorresVA, TeagueJ, MorissetteSB, KnightJ, KamholzBW, KeaneTM, ZimeringRT, GulliverSB. The Influence of Exposure to Natural Disasters on Depression and PTSD Symptoms among Firefighters. Prehosp Disaster Med. 2018;33(1):102–108.
Body composition of animals may change (a) in response to treatments or (b) as they grow older. Studies on (a) generally model each component of composition separately, without the constraint that predicted components sum to 1 (e.g. Keane et al 1990). Allometric regression is widely used in studies of growth and differentiation (change in component proportions). This frequently involves estimating the parameters of a linear relation
between the logarithm of weight of an organ or part (Wi) and the logarithm of the weight of the whole animal (w). Sometimes the relation is between an organ and a part of the animal that contains the organ as a subcomponent. A similar difficulty as in (a) arises here also. The allometric regression equations can be recast to give predictive models for the composition of the animal at different weights. In this form the model is
As a result of the Agenda 2000 increase in the Special Beef Premium and introduction of a slaughter premium for bulls, there is renewed interest in bull beef production especially from low value Holstein-Friesian calves. To evaluate the economics of such a production system further information is required on responses to supplementary concentrates with silage and duration of the finishing period.
The production of early-weaned lamb is a high cost production system with the major cost being the concentrate consumed by the lamb. However the transformation of concentrate to weight gain is more efficient when the concentrate is fed to the lamb directly rather than fed to the dam and the lamb avails of the mother’s milk. This type of finishing system requires a lamb with a high lean proportion in the carcass, a trait that characterises Texel cross lambs. Molasses, a by-product of the sugar processing industry, is high in soluble carbohydrates and is a common ingredient in commercial animal feed formulations. Inclusion levels in excess of 10% have been reported to cause excessive stickiness of the feed (Ewing, 1997). Molasses based diets increase propionic acid concentrations in sheep (Cortez et al., 1987), which promotes soft carcass fat (Bozzolo et al., 1990). The objective of this experiment was to determine the optimum inclusion rate of molasses in the diet of early-weaned lambs, based on growth rate, lamb cleanliness and carcass characteristics.
Reduced soil fertility and damage from pests and diseases have contributed to a decline in productivity of cocoa (Theobroma cacao L.) smallholdings in Sulawesi, Indonesia over the last decade. In a trial on a marginal, acidic soil in South Sulawesi, young PBC123 cocoa trees were supplied with compost, mineral fertiliser (NPK fertiliser and urea) or dolomite, alone and in combination. After 20 months, the trees supplied with compost were taller, flowered more profusely and had a five-fold higher dry bean yield than other treatments. Treatments had no impact on incidence of cocoa pod borer, Phytophthora pod rot and vascular streak dieback. All of the trees supplied with compost survived, while the control, mineral-fertiliser- and dolomite-treated trees had a mortality rate of 22–45% and symptoms of interveinal necrosis. Leaf concentrations of N, P and K were within the normal range in all treatments. In the control and mineral fertiliser treatments, leaf concentrations of Ca (0.28–0.30%) and Mg (0.11–0.15%) were deficient, but were higher in trees supplied with compost (0.78–1.21% and 0.26–0.29%, respectively). The Mg/K ratio in soil-exchangeable cations and leaves was increased three-fold by the combined compost/dolomite treatment. Supplying mineral fertiliser alone resulted in 3.3 cmol kg−1 exchangeable Al, compared to 2.2 cmol kg−1 in control soils. Since 10 kg tree−1 year−1 compost was supplied, a rate that is not practical on most cocoa smallholder farms, further investigation of cost-effective applications of organic matter in conjunction with appropriate formulations of inorganic fertilisers is recommended.
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.
As part of the ongoing development of small unmanned air systems by the University of Southampton, an all laser sintered aircraft has been test flown from the Royal Navy's ice patrol ship HMS Protector to assist with navigating through the Antarctic. These flights were carried out with pre-planned autopilot control with oversight from Andrew Lock, acting as the pilot embarked on HMS Protector. This is the first time the Royal Navy has used unmanned aerial vehicles in this part of the world. In this paper, we set out the trial reports and lessons learnt from this series of test flights.
In order to encouragee broad participation in deliberative forums, it is important to understand how people from politically less powerful groups perceive the deliberative experience and how discussion group composition affects their experiences. Using data from 27 deliberative polls from 2004, we examine how four individual characteristics (sex, age, race, and education) and randomly assigned small group composition predict participants’ attitudes about the deliberative experience. We find evidence that women, young people, non-whites, and those without college degree generally evaluate the experience positively, but find no evidence for the argument that including more people from these groups would lead to more positive deliberation experience for participants from the groups. That is, there is no interaction between minority status and group composition in predicting participants’ evaluation of the deliberation process.
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.
The purpose of this study was to determine whether five subcomponents of children's externalizing behavior showed distinctive patterns of long-term growth and predictive correlates. We examined growth in teachers' ratings of overt aggression, covert aggression, oppositional defiance, impulsivity/inattention, and emotion dysregulation across three developmental periods spanning kindergarten through Grade 8 (ages 5–13 years). We also determined whether three salient background characteristics, family socioeconomic status, child ethnicity, and child gender, differentially predicted growth in discrete categories of child externalizing symptoms across development. Participants were 543 kindergarten-age children (52% male, 81% European American, 17% African American) whose problem behaviors were rated by teachers each successive year of development through Grade 8. Latent growth curve analyses were performed for each component scale, contrasting with overall externalizing, in a piecewise fashion encompassing three developmental periods: kindergarten–Grade 2, Grades 3–5, and Grades 6–8. We found that most subconstructs of externalizing behavior increased significantly across the early school age period relative to middle childhood and early adolescence. However, overt aggression did not show early positive growth, and emotion dysregulation significantly increased across middle childhood. Advantages of using subscales were most clear in relation to illustrating different growth functions between the discrete developmental periods. Moreover, growth in some discrete subcomponents was differentially associated with variations in family socioeconomic status and ethnicity. Our findings strongly affirmed the necessity of adopting a developmental approach to the analysis of growth in children's externalizing behavior and provided unique data concerning similarities and differences in growth between subconstructs of child and adolescent externalizing behavior.
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.
Many conservation interventions seek to change resource users' behaviour through the creation and enforcement of rules. Their success depends on changing the incentives of potential rule-breakers and those who monitor and enforce compliance. Project implementers may use payments to encourage monitoring and sanctions to deter rule breaking but there has been little research to examine the effectiveness of such approaches in promoting compliance with conservation rules. The effects of payments and sanctions on poaching in a hypothetical community-based conservation project were investigated using an individual-based model incorporating individual heterogeneity and a realistic range of behaviours. Individuals could choose to poach, monitor others' behaviour, or ‘cheat’ (claim a fee without actually monitoring behaviour). They could also invest in avoidance to reduce their probability of being detected breaking rules. Community-level outcomes emerged from individuals’ choices and strategic interactions. The model demonstrates that payments and sanctions can interact strongly with one another and that their effects depend on the economic context in which they are applied. Sanctions were more reliable than payments in reducing poaching and, in some circumstances, payments produced perverse effects. It is thus important to consider individual-level heterogeneity and strategic decision-making when designing interventions aimed at changing human behaviour.
The design of wings with morphing capabilities is known to give aerodynamic benefits. These aero-dynamic benefits come from both the use of hinge-less surfaces and the greater adaptability to flight conditions. This paper describes the structural design of a twisting wing to be used for an unmanned air vehicle (UAV) and presents finite element analysis and experiment results. This is part of a research project carried out at the University of Southampton in which one of the goals is to compare different novel wing designs and technologies to determine which one of them gives the best performance. The twisting capability provides roll control without hinged surfaces hence providing aerodynamic improvement. The wing is manufactured using polystyrene foam and is cut out of block of this material using a hot wire machine. In order to link this foam structure to a main spar, ABS plastic inserts were manufactured using a 3D printer. The mechanisms used to actuate the wing are also made from this material. A full scale UAV wing has been manufactured and tested in order to compare with FEA results.