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Current psychiatric diagnoses, although heritable, have not been clearly mapped onto distinct underlying pathogenic processes. The same symptoms often occur in multiple disorders, and a substantial proportion of both genetic and environmental risk factors are shared across disorders. However, the relationship between shared symptoms and shared genetic liability is still poorly understood.
Aims
Well-characterised, cross-disorder samples are needed to investigate this matter, but few currently exist. Our aim is to develop procedures to purposely curate and aggregate genotypic and phenotypic data in psychiatric research.
Method
As part of the Cardiff MRC Mental Health Data Pathfinder initiative, we have curated and harmonised phenotypic and genetic information from 15 studies to create a new data repository, DRAGON-Data. To date, DRAGON-Data includes over 45 000 individuals: adults and children with neurodevelopmental or psychiatric diagnoses, affected probands within collected families and individuals who carry a known neurodevelopmental risk copy number variant.
Results
We have processed the available phenotype information to derive core variables that can be reliably analysed across groups. In addition, all data-sets with genotype information have undergone rigorous quality control, imputation, copy number variant calling and polygenic score generation.
Conclusions
DRAGON-Data combines genetic and non-genetic information, and is available as a resource for research across traditional psychiatric diagnostic categories. Algorithms and pipelines used for data harmonisation are currently publicly available for the scientific community, and an appropriate data-sharing protocol will be developed as part of ongoing projects (DATAMIND) in partnership with Health Data Research UK.
Subglacial hydrological systems require innovative technological solutions to access and observe. Wireless sensor platforms can be used to collect and return data, but their performance in deep and fast-moving ice requires quantification. We report experimental results from Cryoegg: a spherical probe that can be deployed into a borehole or moulin and transit through the subglacial hydrological system. The probe measures temperature, pressure and electrical conductivity in situ and returns all data wirelessly via a radio link. We demonstrate Cryoegg's utility in studying englacial channels and moulins, including in situ salt dilution gauging. Cryoegg uses VHF radio to transmit data to a surface receiving array. We demonstrate transmission through up to 1.3 km of cold ice – a significant improvement on the previous design. The wireless transmission uses Wireless M-Bus on 169 MHz; we present a simple radio link budget model for its performance in cold ice and experimentally confirm its validity. Cryoegg has also been tested successfully in temperate ice. The battery capacity should allow measurements to be made every 2 h for more than a year. Future iterations of the radio system will enable Cryoegg to transmit data through up to 2.5 km of ice.
Apophyllite, analcite, chabazite, prehnite and stilbite are described from pectolite-, chlorite-, calcite- and quartz-bearing veins and joint coatings in the late Carboniferous quartz dolerite of the Whin Sill of the northern Pennines. These veins represent the final hydrothermal stages in the sill's emplacement and are not related to the widespread lead-zinc-barium-fluorite mineralization of the northern Pennine orefield. Thermogravimetric studies of apophyllites from the two Whin Sill occurrences reveal that at one locality the minreal is fluorapophyllite, at the other hydroxyapophyllite.
The morphology of englacial drainage networks and their temporal evolution are poorly characterised, particularly within cold ice masses. At present, direct observations of englacial channels are restricted in both spatial and temporal resolution. Through novel use of a terrestrial laser scanning (TLS) system, the interior geometry of an englacial channel in Austre Brøggerbreen, Svalbard, was reconstructed and mapped. Twenty-eight laser scan surveys were conducted in March 2016, capturing the glacier surface around a moulin entrance and the uppermost 122 m reach of the adjoining conduit. The resulting point clouds provide detailed 3-D visualisation of the channel with point accuracy of 6.54 mm, despite low (<60%) overall laser returns as a result of the physical and optical properties of the clean ice, snow, hoar frost and sediment surfaces forming the conduit interior. These point clouds are used to map the conduit morphology, enabling extraction of millimetre-to-centimetre scale geometric measurements. The conduit meanders at a depth of 48 m, with a sinuosity of 2.7, exhibiting teardrop shaped cross-section morphology. This improvement upon traditional surveying techniques demonstrates the potential of TLS as an investigative tool to elucidate the nature of glacier hydrological networks, through reconstruction of channel geometry and wall composition.
Glen’s flow law is a well-established general law for steady-state glacier ice deformation, and many laboratory tests and field measurements have been undertaken which have shown the generality of the law to be correct. In Nature, ice deformation is the response of the glacier/ice sheet to the applied self-weight stress of the ice mass (i.e. ice thickness, gravity and ice density) which produces a stress gradient within the ice column. Detailed experimental analyses of ice samples in the laboratory have until now only been undertaken using uniform stress fields in uniaxial or triaxial tests. Obviously the best method for investigating ice in the laboratory would be if stress gradients similar to those found in Nature could be replicated. In the following paper we describe the physical modelling of two (laboratory-prepared) isotropic, polycrystalline ice models (0.75 × 0.25 × 0.18 m) at enhanced gravity levels (80g) in a geotechnical beam centrifuge. Steel plate was placed on top of the ice model, replicating an overburden of approximately 36 m of ice (at 80g). Thus we were able to model the deformation of the lower 14 m of an ice mass approximately 50 m thick. Models are confined laterally by the Perspex strongbox walls, preventing lateral extension within the sample during testing. Models are unconfined on their downslope ends, rendering longitudinal stresses negligible. Deformation can therefore be treated as simple shear. Samples are instrumented with displacement markers and thermocouples. Values for A and n in the flow law derived from the experiments are reasonable and indicate the potential of this method for ice-deformation studies.
A task group of the JCPDS—International Center for Diffraction Data (ICDD) was established with the charge of investigating the use of silver behenate, CH3(CH2)20COO·Ag, as a possible low-angle calibration standard for powder diffraction applications. Utilizing several data collection and analysis techniques, long-period spacing (d001) values with a range of 58.219–58.480 Å were obtained. Using the same collected data and one data analysis refinement calculation method resulted in dm values with a range of 58.303–58.425 Å. Data collected using a silicon internal standard and the same singular data analysis calculation method provided d001 values with a range of 58.363–58.381 Å.
Simultaneous use of neutron diffraction and attenuation based transmission Bragg edge imaging for strain measurements is demonstrated in this paper using the pulse neutron source at Los Alamos National Laboratory. Cylindrical samples made from ferritic steel have been subjected to in-situ elastic loading in tension and torsion. Lattice strains were investigated for both deformation modes by time-of-flight (TOF) neutron diffraction using two detector banks at 2θ of ±90°. At the same time, the transmitted portion of the neutron beam was recorded with the goal to analyze the position and shape of the Bragg edges, using a novel time/energy resolved Microchannel Plate (MCP) detector with pixel size of 55 µm and a 28x28 mm2 field of view. Lattice strains obtained using neutron diffraction indicate that the deformation path (tension versus torsion) has important effect on their evolution and related results are summarized.
The emphasis of this paper is to explain the aspects of the experimental setup and data interpretation associated with neutron Bragg edge transmission technique for obtaining through-thickness averaged strain measurements. Implications of using transmission imaging based strain mapping for samples subjected to deformation under tensile loading (where stress at a given cross-section is constant) versus torsional loading (where stress varies linearly from center to outer radius) are discussed. In the case of samples subjected to tensile loading, analysis of the Bragg edge shifts provides the strain value in the direction of the transmitted beam. Thus, three strain components are measured simultaneously when performing Bragg edge imaging in addition to diffraction using two detector banks. For specimens subjected to pure shear by torsion, the Bragg edge transmission technique cannot readily provide quantitative strain information as the mid-point of the Bragg edge does not shift uniformly due to external loading, but results in a broadening of the Bragg edge. Such information can be used to describe the variation of strain distribution along the transmitted beam direction. Spatially resolved Bragg edge maps will be very helpful to detect d-spacing inhomogeneities within the illuminated volume, which may remain undetected when using diffraction only measurements.
Recent studies have suggested that untreated coeliac disease is associated with lower total cholesterol than in the general population while the effect of treatment with a gluten-free diet on the cholesterol profile of clinically apparent coeliac disease is not known. We measured the cholesterol profile at diagnosis, and compared this with Health Survey for England figures, and again following 12 months treatment with a gluten-free diet in 100 consecutive adults with coeliac disease attending the Royal Hallamshire Hospital, Sheffield, UK. The mean total cholesterol was 4·84 (sd 1·2) mmol/l in adults (mean age 51 (sd 16) years) newly diagnosed with coeliac disease. At diagnosis of coeliac disease, men had 21 % lower and women had 9 % lower mean total cholesterol in comparison to the general population (difference in age-adjusted mean total cholesterol − 1·09 mmol/l (95 % CI − 0·97, − 1·21); − 0·46 mmol/l (95 % CI − 0·24, − 0·68), respectively). There was no change in mean total cholesterol following treatment. However, there was a small but statistically significant increase of 0·12 mmol/l (95 % CI 0·05, 0·18) in the mean HDL-cholesterol. Total cholesterol was lower at diagnosis in coeliac patients than in the general population and did not increase with 1 year of a gluten-free diet while HDL-cholesterol increased following treatment. Any increase in risk of IHD or stroke in people with coeliac disease is unlikely due to an adverse cholesterol profile either before diagnosis or after treatment with a gluten-free diet.
Commission 53 on Extrasolar Planets was created at the 2006 Prague General Assembly of the IAU, in recognition of the outburst of astronomical progress in the field of extrasolar planet discovery, characterization, and theoretical work that has occurred since the discovery of the pulsar planets in 1992 and the discovery of the first planet in orbit around a solar-type star in 1995. Commission 53 is the logical successor to the IAU Working Group on Extrasolar Planets WG-ESP, which ended its six years of existence in August 2006. The founding president of Commission 53 is Michael Mayor, in honor of his seminal contributions to this new field of astronomy. The vice-president is Alan Boss, the former chair of the WG-ESP, and the members of the Commission 53 Organizing Committee are the other former members of the WG-ESP.
Despite being widely recognized as a significant public health problem there are surprisingly few contemporary data available on the incidence of pneumonia in the UK. We conducted a general population-based cohort study to determine the incidence of pneumonia in general practice in the United Kingdom. Data were obtained from The Health Improvement Network (THIN) – a computerized, longitudinal, general practice database. Recorded diagnoses of pneumonia between 1991 and 2003 were used to calculate the incidence of pneumonia stratified by year, sex, age group and deprivation score. The overall incidence of pneumonia was 233/100 000 person-years [95% confidence interval (CI) 231–235] and this rate was stable between 1991 and 2003. The incidence of pneumonia was slightly lower in females compared to males [age-adjusted incidence rate ratio (IRR) 0·88, 95% CI 0·86–0·89]. Pneumonia was most common in children aged <4 years and adults aged >65 years. There was an increased incidence of pneumonia with higher levels of socioeconomic disadvantage such that people living in the most deprived areas of the United Kingdom were 28% more likely to get pneumonia than those in the least deprived areas (age- and gender-adjusted IRR 1·28, 95% CI 1·24–1·32). In conclusion, pneumonia is an important public health problem and the incidence of pneumonia is higher in people at the extremes of age, men and people living in socially deprived areas.
The Working Group on Extrasolar Planets (hereafter the WGESP) was created at a meeting of the IAU Executive Council in 1999 as a Working Group of IAU Division III and was renewed for three more years at the IAU General Assembly in 2003. The charge of the WGESP is to act as a focal point for international research on extrasolar planets. The membership of the WGESP has remained unchanged for the last three years.
Circulating testosterone levels were measured at 195, 318 and 437 days of age in 76 male garter snakes (Thamnophis sirtalis) born to 26 wild-caught females. Testosterone levels increased significantly with increasing mass at all three ages and differed significantly among families at 318 and 437 days. ‘Full-sib’ estimates of heritability were near one at 318 and 437 days but these estimates may be inflated by maternal effects, dominance and epistasis. Evidence of heritable variation in circulating testosterone levels suggests that the evolution of traits affected by this hormone (reproductive, territorial and agonistic behaviour; body size and shape) might be mediated through changes in this hormonal control mechanism.