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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.
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.
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.
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.
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.
Healthcare-associated outbreaks and pseudo-outbreaks of rapidly growing mycobacteria (RGM) are frequently associated with contaminated tap water. A pseudo-outbreak of Mycobacterium chelonae–M. abscessus in patients undergoing bronchoscopy was identified by 2 acute care hospitals. RGM was identified in bronchoscopy specimens of 28 patients, 25 of whom resided in the same skilled nursing facility (SNF). An investigation ruled out bronchoscopy procedures, specimen collection, and scope reprocessing at the hospitals as sources of transmission.
To identify the reservoir for RGM within the SNF and evaluate 2 water system treatments, hyperchlorination and point-of-use (POU) membrane filters, to reduce RGM.
A comparative in situ study of 2 water system treatments to prevent RGM transmission.
An SNF specializing in care of patients requiring ventilator support.
RGM and heterotrophic plate count (HPC) bacteria were examined in facility water before and after hyperchlorination and in a subsequent 24-week assessment of filtered water by colony enumeration on Middlebrook and R2A media.
Mycobacterium chelonae was consistently isolated from the SNF water supply. Hyperchlorination reduced RGM by 1.5 log10 initially, but the population returned to original levels within 90 days. Concentration of HPC bacteria also decreased temporarily. RGM were reduced below detection level in filtered water, a 3-log10 reduction. HPC bacteria were not recovered from newly installed filters, although low quantities were found in water from 2-week-old filters.
POU membrane filters may be a feasible prevention measure for healthcare facilities to limit exposure of sensitive individuals to RGM in potable water systems.
Graded-band-gap CuIn1−xGaxSe2 (CIGS) absorbers with Ga/Ga+In value in the 20%-30% range have a demonstrated efficiency of 18.8%. For CdS-containing devices, the shortcircuit current density (Jsc) has almost reached its expected maximum. However, the open-circuit voltage of CIGS solar cells is limited by the surface microstructure and chemistry. In this work, we examine the microstructural properties and chemistry of CIGS. We also attempted to correlate the above observations and device performance.
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.
Equations for predicting the meat, fat and bone proportions in beef carcasses using the European Union carcass classification scores for conformation and fatness, and hindquarter composition were developed and their accuracy was tested using data from 662 cattle. The animals included bulls, steers and heifers, and comprised of Holstein–Friesian, early- and late-maturing breeds × Holstein–Friesian, early-maturing × early-maturing, late-maturing × early-maturing and genotypes with 0.75 or greater late-maturing ancestry. Bulls, heifers and steers were slaughtered at 15, 20 and 24 months of age, respectively. The diet offered before slaughter includes grass silage only, grass or maize silage plus supplementary concentrates, or concentrates offered ad libitum plus 1 kg of roughage dry matter per head daily. Following the slaughter, carcasses were classified mechanically for conformation and fatness (scale 1 to 15), and the right side of each carcass was dissected into meat, fat and bone. Carcass conformation score ranged from 4.7 to 14.4, 5.4 to 10.9 and 2.0 to 12.0 for bulls, heifers and steers, respectively; the corresponding ranges for fat score were 2.7 to 11.5, 3.2 to 11.3 and 2.8 to 13.3. Prediction equations for carcass meat, fat and bone proportions were developed using multiple regression, with carcass conformation and fat score both included as continuous independent variables. In a separate series of analyses, the independent variable in the model was the proportion of the trait under investigation (meat, fat or bone) in the hindquarter. In both analyses, interactions between the independent variables and gender were tested. The predictive ability of the developed equations was assed using cross-validation on all 662 animals. Carcass classification scores accounted for 0.73, 0.67 and 0.71 of the total variation in carcass meat, fat and bone proportions, respectively, across all 662 animals. The corresponding values using hindquarter meat, fat and bone in the model were 0.93, 0.87 and 0.89, respectively. The bias of the prediction equations when applied across all animals was not different from zero, but bias did exist among some of the genotypes of animals present. In conclusion, carcass classification scores and hindquarter composition are accurate and efficient predictors of carcass meat, fat and bone proportions.
The objective was to determine the relationship of muscular and skeletal scores taken on the live animal and carcass conformation and fat scores with carcass composition and value. Bulls (n = 48) and heifers (n = 37) of 0.75 to 1.0 late-maturing breed genotypes slaughtered at 16 and 20 months of age, respectively, were used. At 8 months of age (weaning) and immediately pre-slaughter, visual muscular scores were recorded for each animal and additionally skeletal scores were recorded pre-slaughter. Carcass weight, kidney and channel fat weight, carcass conformation and fat scores, fat depth over the longissimus dorsi muscle at the 12th (bulls) or 10th (heifers) rib and carcass length were recorded post-slaughter. Each carcass was subsequently dissected into meat, fat and bone using a commercial dissection procedure. Muscular scores taken pre-slaughter showed positive correlations with killing-out rate (r ≈ 0.65), carcass meat proportion (r ≈ 0.60), value (r ≈ 0.55) and conformation score (r ≈ 0.70), and negative correlations with carcass bone (r ≈ −0.60) and fat (r ≈ −0.4) proportions. Corresponding correlations with muscular scores at weaning were lower. Correlations of skeletal scores taken pre-slaughter, carcass length and carcass weight with killing-out rate and the various carcass traits were mainly not significant. Carcass fat depth and kidney and channel fat weight were negatively correlated with carcass meat proportion and value, and positively correlated with fat proportion. Correlations of carcass conformation score were positive (r = 0.50 to 0.68) with killing-out rate, carcass meat proportion and carcass value and negative with bone (r ≈ −0.56) and fat (r ≈ −0.40) proportions. Corresponding correlations with carcass fat score were mainly negative except for carcass fat proportion (r ≈ 0.79). A one-unit (scale 1 to 15) increase in carcass conformation score increased carcass meat proportion by 8.9 and 8.1 g/kg, decreased fat proportion by 4.0 and 2.9 g/kg and decreased bone proportion by 4.9 and 5.2 g/kg in bulls and heifers, respectively. Corresponding values per unit increase in carcass fat score were −11.9 and −9.7 g/kg, 12.4 and 9.9 g/kg, and −0.5 and −0.2 g/kg. Carcass conformation and fat scores explained 0.70 and 0.55 of the total variation in meat yield for bulls and heifers, respectively. It is concluded that live animal muscular scores, and carcass conformation and fat scores, are useful indicators of carcass meat proportion and value.
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.