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The COllaborative project of Development of Anthropometrical measures in Twins (CODATwins) project is a large international collaborative effort to analyze individual-level phenotype data from twins in multiple cohorts from different environments. The main objective is to study factors that modify genetic and environmental variation of height, body mass index (BMI, kg/m2) and size at birth, and additionally to address other research questions such as long-term consequences of birth size. The project started in 2013 and is open to all twin projects in the world having height and weight measures on twins with information on zygosity. Thus far, 54 twin projects from 24 countries have provided individual-level data. The CODATwins database includes 489,981 twin individuals (228,635 complete twin pairs). Since many twin cohorts have collected longitudinal data, there is a total of 1,049,785 height and weight observations. For many cohorts, we also have information on birth weight and length, own smoking behavior and own or parental education. We found that the heritability estimates of height and BMI systematically changed from infancy to old age. Remarkably, only minor differences in the heritability estimates were found across cultural–geographic regions, measurement time and birth cohort for height and BMI. In addition to genetic epidemiological studies, we looked at associations of height and BMI with education, birth weight and smoking status. Within-family analyses examined differences within same-sex and opposite-sex dizygotic twins in birth size and later development. The CODATwins project demonstrates the feasibility and value of international collaboration to address gene-by-exposure interactions that require large sample sizes and address the effects of different exposures across time, geographical regions and socioeconomic status.
Thermal imaging diagnostics was used as a surface temperature mapping tool to characterize the energy density distribution of a high-intensity pulsed ion beam. This approach was tested on the TEMP-6 accelerator (200–250 kV, 150 ns). The beam composition included carbon ions (85%) and protons, and the energy density in the focus was 5–12 J/cm2. Targets of stainless steel, titanium, brass, copper, and tungsten were examined. Our observations show that the maximum energy density measured with the thermal imaging diagnostics considerably exceeds the ablation threshold of the targets. An analysis of the overheating mechanisms of each target was carried out, including metastable overheating of the target to above its boiling temperature during rapid heating; formation, migration, and the subsequent annealing of fast radiation-induced defects in the target under ion beam irradiation. This expands the range of energy density measurement for this thermal imaging diagnostics from 2–3 J/cm2 up to 10–12 J/cm2 but introduces error into the results of measurement. For a stainless steel target, this error exceeds 15% at an energy density of more than 4 J/cm2. A method of correcting the results of the thermal imaging diagnostics is developed for a pulsed ion beam under conditions of intense ablation of the target material.
Research results of luminescence spectra of noble gases and Ar–Xe, Ar–Kr, and Kr–Xe mixtures under the excitation by products of nuclear reaction in the core of a stationary nuclear reactor with 0.87 × 1014 n/cm2s thermal neutron flux are described in the article. The emission spectra of noble gases are similar to the obtained spectrum under the excitation by the 40Ar+7 ion beam from the DC-60 accelerator. Bands in spectra of the binary mixtures of noble gases are connected with the radiation on heteronuclear ion molecule transitions. The appearance of the lines of alkali metal atoms at the temperature increase of gas chamber is explained by sputtering of the lithium layer via nuclear reaction products as well as ionized and excited particles of the buffer gas.
Hill (Twin Research and Human Genetics, Vol. 21, 2018, 84–88) presented a critique of our recently published paper in Cell Reports entitled ‘Large-Scale Cognitive GWAS Meta-Analysis Reveals Tissue-Specific Neural Expression and Potential Nootropic Drug Targets’ (Lam et al., Cell Reports, Vol. 21, 2017, 2597–2613). Specifically, Hill offered several interrelated comments suggesting potential problems with our use of a new analytic method called Multi-Trait Analysis of GWAS (MTAG) (Turley et al., Nature Genetics, Vol. 50, 2018, 229–237). In this brief article, we respond to each of these concerns. Using empirical data, we conclude that our MTAG results do not suffer from ‘inflation in the FDR [false discovery rate]’, as suggested by Hill (Twin Research and Human Genetics, Vol. 21, 2018, 84–88), and are not ‘more relevant to the genetic contributions to education than they are to the genetic contributions to intelligence’.
Recent studies indicate that early postnatal period is a critical window for gut microbiota manipulation to optimise the immunity and body growth. This study investigated the effects of maternal faecal microbiota orally administered to neonatal piglets after birth on growth performance, selected microbial populations, intestinal permeability and the development of intestinal mucosal immune system. In total, 12 litters of crossbred newborn piglets were selected in this study. Litter size was standardised to 10 piglets. On day 1, 10 piglets in each litter were randomly allotted to the faecal microbiota transplantation (FMT) and control groups. Piglets in the FMT group were orally administrated with 2ml faecal suspension of their nursing sow per day from the age of 1 to 3 days; piglets in the control group were treated with the same dose of a placebo (0.1M potassium phosphate buffer containing 10% glycerol (vol/vol)) inoculant. The experiment lasted 21 days. On days 7, 14 and 21, plasma and faecal samples were collected for the analysis of growth-related hormones and cytokines in plasma and lipocalin-2, secretory immunoglobulin A (sIgA), selected microbiota and short-chain fatty acids (SCFAs) in faeces. Faecal microbiota transplantation increased the average daily gain of piglets during week 3 and the whole experiment period. Compared with the control group, the FMT group had increased concentrations of plasma growth hormone and IGF-1 on days 14 and 21. Faecal microbiota transplantation also reduced the incidence of diarrhoea during weeks 1 and 3 and plasma concentrations of zonulin, endotoxin and diamine oxidase activities in piglets on days 7 and 14. The populations of Lactobacillus spp. and Faecalibacterium prausnitzii and the concentrations of faecal and plasma acetate, butyrate and total SCFAs in FMT group were higher than those in the control group on day 21. Moreover, the FMT piglets have higher concentrations of plasma transforming growth factor-β and immunoglobulin G, and faecal sIgA than the control piglets on day 21. These findings indicate that early intervention with maternal faecal microbiota improves growth performance, decreases intestinal permeability, stimulates sIgA secretion, and modulates gut microbiota composition and metabolism in suckling piglets.
The new mineral saranchinaite, ideally Na2Cu(SO4)2, was found in sublimates of the Saranchinaitovaya fumarole, Naboko Scoria Cone, Tolbachik volcano, Kamchatka, Russia. Its discovery and study has enabled the characterization of the thermal decomposition of kröhnkite and provided an insight into the high-temperature behaviour of other kröhnkite-type materials. Saranchinaite is monoclinic, P21, a = 9.0109(5), b = 15.6355(8), c = 10.1507(5) Å, β = 107.079(2)°, V = 1367.06(12) Å3, Z = 8 and R1 = 0.03. Saranchinaite is a unique mineral in that two of its four independent Cu sites display a very unusual Cu2+ coordination environment with two weak Cu–O bonds of ~2.9–3.0 Å, resulting in [4+1+2] CuO7 polyhedra. Each of the Cu-centred polyhedra shares common corners with SO4 tetrahedra resulting in a [Cu4(SO4)8]8– framework with a complex channel system occupied by Na atoms. Saranchinaite is sensitive to moisture and transforms into kröhnkite within one week when exposed to open air at 87% relative humidity and 25°C. High-temperature X-ray diffraction studies were performed for both kröhnkite (from La Vendida mine, Antofagasta Region, Chile) and saranchinaite. During thermal expansion kröhnkite retains its strongly anisotropic character up to its full dehydration and the formation of saranchinaite at ~200°C, which then transforms back into kröhnkite after exposure to open air. The thermal expansion of saranchinaite is more complex than that of kröhnkite. Saranchinaite is stable up to 475°C with subsequent decomposition into tenorite CuO, thénardite Na2SO4 and unidentified phases.
Little is known about the combined use of benzodiazepines and antidepressants in older psychiatric patients. This study examined the prescription pattern of concurrent benzodiazepines in older adults treated with antidepressants in Asia, and explored its demographic and clinical correlates.
The data of 955 older adults with any type of psychiatric disorders were extracted from the database of the Research on Asian Psychotropic Prescription Patterns for Antidepressants (REAP-AD) project. Demographic and clinical characteristics were recorded using a standardized protocol and data collection procedure. Both univariate and multiple logistic regression analyses were performed.
The proportion of benzodiazepine and antidepressant combination in this cohort was 44.3%. Multiple logistic regression analysis revealed that higher doses of antidepressants, younger age (<65 years), inpatients, public hospital, major comorbid medical conditions, antidepressant types, and country/territory were significantly associated with more frequent co-prescription of benzodiazepines and antidepressants.
Nearly, half of the older adults treated with antidepressants in Asia are prescribed concurrent benzodiazepines. Given the potentially adverse effects of benzodiazepines, the rationale of benzodiazepines and antidepressants co-prescription needs to be revisited.
This article contributes to the search for suitable approaches to combat social exclusion faced by disabled people in capitalist wage labour markets. Referring to policy and service examples in Hong Kong, it reviews four social exclusion approaches – the Moral Underclass (MUD), Social Integrationist (SID), Redistributive (RED) and Collective Production (COP) approaches. These approaches are explored in relation to three key issues: (1) the diverse preferences of disabled people; (2) the myth of infeasibility regarding unconventional approaches and (3) the defects of the medical model of disability. The article argues that the MUD and SID approaches are more associated with the medical model of disability and emphasise individual changes. The RED and COP approaches contain more features of the social model of disability and are in favour of social and structural changes. The COP approach stresses the diverse preferences of disabled people and supports innovative services to combat social exclusion.
To study the clinical effect of lens cleaning paper patching on traumatic eardrum perforations.
A total of 122 patients were divided into 2 groups, of which 56 patients were treated with lens cleaning paper patching and 66 acted as controls. The closure rate and healing time were compared between the two groups.
The healing rate of small perforations was 96.4 per cent (27 out of 28) in the patching group and 90 per cent (27 out of 30) in the control group. The difference was not statistically significant (p > 0.05). The healing rate of large perforations was 89.3 per cent (25 out of 28) and 80.6 per cent (29 out of 36) in the two groups, respectively. The difference was statistically significant (p < 0.05). The healing time of large perforations was shorter in the patching group than in the control group (p < 0.01).
Patching with lens cleaning paper under an endoscope can accelerate the closure of large traumatic eardrum perforations.
We apply a novel pre-flare tracking of sunspot groups towards improving the estimation of flare onset time by focusing on the evolution of the 3D magnetic field construction of AR 11429. The 3D magnetic structure is based on potential field extrapolation encompassing a vertical range from the photosphere through the chromosphere and transition region into the low corona. The basis of our proxy measure of activity prediction is the so-called weighted horizontal gradient of magnetic field (WGM) defined between spots of opposite polarities close to the polarity inversion line of an active region. The temporal variation of the distance of the barycenter of the opposite polarities is also found to possess potentially important diagnostic information about the flare onset time estimation as function of height similar to its counterpart introduced initially in an application at the photosphere only in Korsós et al. (2015). We apply the photospheric pre-flare behavioural patterns of sunspot groups to the evolution of their associated 3D-constructed AR 11429 as function of height. We found that at a certain height in the lower solar atmosphere the onset time may be estimated much earlier than at the photosphere or at any other heights. Therefore, we present a tool and recipe that may potentially identify the optimum height for flare prognostic in the solar atmosphere allowing to improve our flare prediction capability and capacity.
The unique phenotypic and genetic aspects of obsessive-compulsive (OCD) and attention-deficit/hyperactivity disorder (ADHD) among individuals with Tourette syndrome (TS) are not well characterized. Here, we examine symptom patterns and heritability of OCD and ADHD in TS families.
OCD and ADHD symptom patterns were examined in TS patients and their family members (N = 3494) using exploratory factor analyses (EFA) for OCD and ADHD symptoms separately, followed by latent class analyses (LCA) of the resulting OCD and ADHD factor sum scores jointly; heritability and clinical relevance of the resulting factors and classes were assessed.
EFA yielded a 2-factor model for ADHD and an 8-factor model for OCD. Both ADHD factors (inattentive and hyperactive/impulsive symptoms) were genetically related to TS, ADHD, and OCD. The doubts, contamination, need for sameness, and superstitions factors were genetically related to OCD, but not ADHD or TS; symmetry/exactness and fear-of-harm were associated with TS and OCD while hoarding was associated with ADHD and OCD. In contrast, aggressive urges were genetically associated with TS, OCD, and ADHD. LCA revealed a three-class solution: few OCD/ADHD symptoms (LC1), OCD & ADHD symptoms (LC2), and symmetry/exactness, hoarding, and ADHD symptoms (LC3). LC2 had the highest psychiatric comorbidity rates (⩾50% for all disorders).
Symmetry/exactness, aggressive urges, fear-of-harm, and hoarding show complex genetic relationships with TS, OCD, and ADHD, and, rather than being specific subtypes of OCD, transcend traditional diagnostic boundaries, perhaps representing an underlying vulnerability (e.g. failure of top-down cognitive control) common to all three disorders.
The aim of this paper is to introduce the software and astronomical web-services developed in frame of the Ukraine Virtual Observatory (UkrVO) and VIrtual Roentgen and Gamma Observatory (VIRGO) to the broad astronomical community. We report briefly on such web-services as the public databases “Sky Maps” of X-ray observations by XMM-Newton, the Earth Orbital Parameters for International Earth Rotation System, and the UkrVO Joint Digitized Archive of astroplates. We refer to such software as the “Multi-Column View”, “Variable Stars Calculator”, “FrameSmooth” for variable star’s research and “Collection Light Technology” (CoLiTec) software for search and discovery of new Solar System bodies.
The Universe is permeated by hot, turbulent, magnetized plasmas. Turbulent plasma is a major constituent of active galactic nuclei, supernova remnants, the intergalactic and interstellar medium, the solar corona, the solar wind and the Earth’s magnetosphere, just to mention a few examples. Energy dissipation of turbulent fluctuations plays a key role in plasma heating and energization, yet we still do not understand the underlying physical mechanisms involved. THOR is a mission designed to answer the questions of how turbulent plasma is heated and particles accelerated, how the dissipated energy is partitioned and how dissipation operates in different regimes of turbulence. THOR is a single-spacecraft mission with an orbit tuned to maximize data return from regions in near-Earth space – magnetosheath, shock, foreshock and pristine solar wind – featuring different kinds of turbulence. Here we summarize the THOR proposal submitted on 15 January 2015 to the ‘Call for a Medium-size mission opportunity in ESAs Science Programme for a launch in 2025 (M4)’. THOR has been selected by European Space Agency (ESA) for the study phase.
Declines in populations of the Critically Endangered Spoon-billed Sandpiper Calidris pygmaeus have been rapid, with the breeding population now perhaps numbering fewer than 120 pairs. The reasons for this decline remain unresolved. Whilst there is evidence that hunting in wintering areas is an important factor, loss of suitable habitat on passage and wintering areas is also of concern. While some key sites for the species are already documented, many of their wintering locations are described here for the first time. Their wintering range primarily stretches from Bangladesh to China. Comprehensive surveys of potential Spoon-billed Sandpiper wintering sites from 2005 to 2013 showed a wide distribution with three key concentrations in Myanmar and Bangladesh, but also regular sites in China, Vietnam and Thailand. The identification of all important non-breeding sites remains of high priority for the conservation of the species. Here, we present the results of field surveys of wintering Spoon-billed Sandpipers that took place in six countries between 2005 and 2013 and present species distribution models which map the potential wintering areas. These include known and currently unrecognised wintering locations. Our maximum entropy model did not identify any new extensive candidate areas within the winter distribution, suggesting that most key sites are already known, but it did identify small sites on the coast of eastern Bangladesh, western Myanmar, and the Guangxi and Guangdong regions of China that may merit further investigation. As no extensive areas of new potential habitat were identified, we suggest that the priorities for the conservation of this species are habitat protection in important wintering and passage areas and reducing hunting pressure on birds at these sites.
Major depressive disorder (MDD) is moderately heritable, however genome-wide association studies (GWAS) for MDD, as well as for related continuous outcomes, have not shown consistent results. Attempts to elucidate the genetic basis of MDD may be hindered by heterogeneity in diagnosis. The Center for Epidemiological Studies Depression (CES-D) scale provides a widely used tool for measuring depressive symptoms clustered in four different domains which can be combined together into a total score but also can be analysed as separate symptom domains.
We performed a meta-analysis of GWAS of the CES-D symptom clusters. We recruited 12 cohorts with the 20- or 10-item CES-D scale (32 528 persons).
One single nucleotide polymorphism (SNP), rs713224, located near the brain-expressed melatonin receptor (MTNR1A) gene, was associated with the somatic complaints domain of depression symptoms, with borderline genome-wide significance (pdiscovery = 3.82 × 10−8). The SNP was analysed in an additional five cohorts comprising the replication sample (6813 persons). However, the association was not consistent among the replication sample (pdiscovery+replication = 1.10 × 10−6) with evidence of heterogeneity.
Despite the effort to harmonize the phenotypes across cohorts and participants, our study is still underpowered to detect consistent association for depression, even by means of symptom classification. On the contrary, the SNP-based heritability and co-heritability estimation results suggest that a very minor part of the variation could be captured by GWAS, explaining the reason of sparse findings.
Interfacial dislocations (IDs) and half-loop arrays (HLAs) present in the
epilayers of 4H-SiC crystal are known to have a deleterious effect on device
performance. Synchrotron X-ray Topography studies carried out on n-type 4H-SiC
offcut wafers before and after epitaxial growth show that in many cases BPD
segments in the substrate are responsible for creating IDs and HLAs during CVD
growth. This paper reviews the behaviors of BPDs in the substrate during the
epitaxial growth in different cases: (1) screw-oriented BPD segments
intersecting the surface replicate directly through the interface during the
epitaxial growth and take part in stress relaxation process by creating IDs and
HLAs (Matthews-Blakeslee model  ); (2) non-screw oriented BPD half loop
intersecting the surface glides towards and replicates through the interface,
while the intersection points convert to threading edge dislocations (TEDs) and
pin the half loop, leaving straight screw segments in the epilayer and then
create IDs and HLAs; (3) edge oriented short BPD segments well below the surface
get dragged towards the interface during epitaxial growth, leaving two long
screw segments in their wake, some of which replicate through the interface and
create IDs and HLAs. The driving force for the BPDs to glide toward the
interface is thermal stress and driving force for the relaxation process to
occur is the lattice parameter difference at growth temperature which results
from the doping concentration difference between the substrate and epilayer.
The optimal perioperative feeding strategies for neonates with CHD are unknown. In the present study, we describe the current feeding practices across a multi-institutional cohort.
Inclusion criteria for this study were as follows: all neonates undergoing cardiac surgery admitted to the cardiac ICU for ⩾24 hours preoperatively between October, 2013 and July, 2014 in the Pediatric Cardiac Critical Care Consortium registry.
The cohort included 251 patients from eight centres. The most common diagnoses included the following: hypoplastic left heart syndrome (17%), coarctation/aortic arch hypoplasia (18%), and transposition of the great arteries (22%); 14% of the patients were <37weeks of gestational age. The median total hospital length of stay was 21 days (interquartile range (IQR) 14–35) and overall mortality was 8%. Preoperative feeding occurred in 133 (53%) patients. The overall preoperative feeding rates across centres ranged from 29 to 79%. Postoperative feeds started on median day 2 (IQR 1–4); for patients with hypoplastic left heart syndrome postoperative feeds started on median day 4. Postoperative feeds were initiated in 89 (35%) patients before extubation (range across centres: 21–61%). The median cardiac ICU discharge feeding volume was 108 cc/kg/day, varying across centres. The mean discharge weight was 280 g above birth weight, ranging from +100 to 430 g across centres. A total of 110 (44%) patients had discharge feeding tubes, ranging from 6 to 80% across centres, and 40/110 patients had gastrostomy/enterostomy tubes placed. In addition, eight (3.2%) patients developed necrotising enterocolitis – three preoperatively and five postoperatively.
In this cohort, neonatal feeding practices and outcomes appear to vary across diagnostic groups and institutions. Only half of the patients received preoperative enteral nutrition; almost half had discharge feeding tubes. Multi-institutional collaboration is necessary to determine feeding strategies associated with best clinical outcomes.
Transcatheter pulmonary valve implantation is usually performed from a femoral venous – transfemoral – approach, but this may not be the optimal vascular access option in some patients. This study aimed to determine which group of patients might benefit from an internal jugular – transjugular – approach for transcatheter pulmonary valve implantation.
This multicentre retrospective study included all patients who underwent attempted transcatheter pulmonary valve placement in the right ventricular outflow tract between April 2010 and June 2012 at two large congenital heart centres. Patients were divided into two groups based on venous access site – transfemoral or transjugular. Patient characteristics, procedural outcomes, and complications were compared between groups.
Of 81 patients meeting the inclusion criteria (median age 16.4 years), the transjugular approach was used in 14 patients (17%). The transjugular group was younger (median age 11.9 versus 17.3 years), had lower body surface area (mean 1.33 versus 1.61 m2), more often had moderate or greater tricuspid regurgitation (29% versus 7%), and had a higher ratio of right ventricle-to-systemic systolic pressure (mean 82.4 versus 64.7). Patients requiring a transjugular approach after an unsuccessful transfemoral approach had longer fluoroscopic times and procedure duration.
The transjugular approach for transcatheter pulmonary valve implantation is used infrequently but is more often used in younger and smaller patients. Technical limitations from a transfemoral approach may be anticipated if there is moderate or greater tricuspid regurgitation or higher right ventricular pressures. In these patients, a transjugular approach should be considered early.