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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.
A power MOSFET-based push–pull configuration nanosecond-pulse generator has been designed, constructed, and characterized to permeabilize cells for biological and medical applications. The generator can deliver pulses with durations ranging from 80 ns up to 1 µs and pulse amplitudes up to 1.4 kV. The unit has been tested for in vitro experiments on a medulloblastoma cell line. Following the exposure of cells to 100, 200, and 300 ns electric field pulses, permeabilization tests were carried out, and viability tests were conducted to verify the performance of the generator. The maximum temperature rise of the biological load was also calculated based on Joule heating energy conservation and experimental validation. Our results indicate that the developed device has good capabilities to achieve well-controlled electro-manipulation in vitro.
Karlsruhe Institute of Technology (KIT) is doing research and development in the field of megawatt-class radio frequency (RF) sources (gyrotrons) for the Electron Cyclotron Resonance Heating (ECRH) systems of the International Thermonuclear Experimental Reactor (ITER) and the DEMOnstration Fusion Power Plant that will follow ITER. In the focus is the development and verification of the European coaxial-cavity gyrotron technology which shall lead to gyrotrons operating at an RF output power significantly larger than 1 MW CW and at an operating frequency above 200 GHz. A major step into that direction is the final verification of the European 170 GHz 2 MW coaxial-cavity pre-prototype at longer pulses up to 1 s. It bases on the upgrade of an already existing highly modular short-pulse (ms-range) pre-prototype. That pre-prototype has shown a world record output power of 2.2 MW already. This paper summarizes briefly the already achieved experimental results using the short-pulse pre-prototype and discusses in detail the design and manufacturing process of the upgrade of the pre-prototype toward longer pulses up to 1 s.
Background:ATP8A2 mutations have only recently been associated with human disease. We present the clinical features from the largest cohort of patients with this disorder reported to date. Methods: An observational study of 9 unreported and 2 previously reported patients with biallelic ATP8A2 mutations was carried out at multiple centres. Results: The mean age of the cohort was 9.4 years old (range: 2.5-28 yrs). All patients demonstrated developmental delay, severe hypotonia and movement disorders: chorea/choreoathetosis (100%), dystonia (27%) or facial dyskinesia (18%). Hypotonia was apparent at birth (70%) or before 6 months old (100%). Optic atrophy was observed in 75% of patients who had a funduscopic examination. MRI of the brain was normal for most patients with a small proportion showing mild cortical atrophy (30%), delayed myelination (20%) and/or hypoplastic optic nerves (20%). Epilepsy was seen in two older patients. Conclusions:ATP8A2 gene mutations have emerged as a cause of a novel phenotype characterized by developmental delay, severe hypotonia and hyperkinetic movement disorders. Optic atrophy is common and may only become apparent in the first few years of life, necessitating repeat ophthalmologic evaluation. Early recognition of the cardinal features of this condition will facilitate diagnosis of this disorder.
The genetic component of Cannabis Use Disorder may overlap with influences acting more generally on early stages of cannabis use. This paper aims to determine the extent to which genetic influences on the development of cannabis abuse/dependence are correlated with those acting on the opportunity to use cannabis and frequency of use.
A cross-sectional study of 3303 Australian twins, measuring age of onset of cannabis use opportunity, lifetime frequency of cannabis use, and lifetime DSM-IV cannabis abuse/dependence. A trivariate Cholesky decomposition estimated additive genetic (A), shared environment (C) and unique environment (E) contributions to the opportunity to use cannabis, the frequency of cannabis use, cannabis abuse/dependence, and the extent of overlap between genetic and environmental factors associated with each phenotype.
Variance components estimates were A = 0.64 [95% confidence interval (CI) 0.58–0.70] and E = 0.36 (95% CI 0.29–0.42) for age of opportunity to use cannabis, A = 0.74 (95% CI 0.66–0.80) and E = 0.26 (95% CI 0.20–0.34) for cannabis use frequency, and A = 0.78 (95% CI 0.65–0.88) and E = 0.22 (95% CI 0.12–0.35) for cannabis abuse/dependence. Opportunity shares 45% of genetic influences with the frequency of use, and only 17% of additive genetic influences are unique to abuse/dependence from those acting on opportunity and frequency.
There are significant genetic contributions to lifetime cannabis abuse/dependence, but a large proportion of this overlaps with influences acting on opportunity and frequency of use. Individuals without drug use opportunity are uninformative, and studies of drug use disorders must incorporate individual exposure to accurately identify aetiology.
We aimed to assess the potential of the characterization of association among weed species as a tool to understand weed occurrence for further supporting long-term management programs. After a sequence of summer crops, which included irrigated rice and sorghum, the experimental area was submitted to subsoiling, limestone was applied, and ryegrass was planted in the winter season. Six months later, an ACCase-inhibitor herbicide was used to select only non-grassweed species. Field survey was carried out on 100 quadrats with 0.5-m width that were randomly sampled. Plant species were organized in 2 × 2 contingency tables. The results of the calculated chi-squares were compared to the respective tables, and results were presented as a paired chi-square matrix. The species–area curve was also obtained. The relative occurrence of species was determined by its frequency and presented as a wordcloud. The network analysis was obtained by using the Fruchterman–Reingold layout. The hypothesis of plant association aiming survival in arable fields was validated. The methodology of plant association based on the chi-square test was applicable to arable fields, where weed species (usually competitor plant types) occur in clusters. From a practical point of view, preference should be given to herbicides that are efficient on most species within a given cluster.
In August 2015, Public Health England detected an outbreak of Shiga toxin-producing Escherichia coli (STEC) serotype O157:H7 caused by contaminated salad leaves in a mixed leaf prepacked salad product from a national retailer. The implicated leaves were cultivated at five different farms and the zoonotic source of the outbreak strain was not determined. In March 2016, additional isolates from new cases were identified that shared a recent common ancestor with the outbreak strain. A case–case study involving the cases identified in 2016 revealed that ovine exposures were associated with illness (n = 16; AOR 8·24; 95% CI 1·55–39·74). By mapping the recent movement of sheep and lambs across the United Kingdom, epidemiological links were established between the cases reporting ovine exposures. Given the close phylogenetic relationship between the outbreak strain and the isolates from cases with ovine exposures, it is plausible that ovine faeces may have contaminated the salad leaves via untreated irrigation water or run-off from fields nearby. Timely and targeted veterinary and environmental sampling should be considered during foodborne outbreaks of STEC, particularly where ready to eat vegetables and salads are implicated.
The characteristics of dairy products depend on both the processing technology and the chemical and microbiological characteristics of milk. The milk properties depend themselves on a number of production factors linked to animals (genetic and physiology) or feeding. Some of these factors, the way animal are fed in particular, are increasingly becoming the focus of consumers’ concern. In particular, grass-based diets are sensitive because grass carries a positive image that can be attractive to some, because it may confer special nutritional characteristics to the products and also because grass feeding is part of the basic link between products and their original land which is important in the case of labelled products (Protected Denomination of Origin [PDO]). The aim of this text is to take stock of the recent studies (Coulon et al., 2004), which have studied the effect of grass on the sensory qualities of cheeses and butter. Other dimensions of quality. i.e., health and nutrition, are not investigated.
Up to now, genetic selection in cattle has been directed in favour of muscle growth, which changes muscle characteristics, and hence meat quality. One key concern, that now needs examination, is to understand the relationships between muscle growth and muscle characteristics related to meat quality. To achieve such a goal, muscles of divergently selected animals were analysed by three complementary approaches: (i) determination of muscle biochemical characteristics, (ii) identification of differentially expressed genes using transcriptomic and proteomic tools, (iii) identification of Single Nucleotide Polymorphisms (SNP) within candidate genes.
The subaqueous margins of calving glaciers have the potential to make significant contributions to glacier mass loss. However, to date, very little is known about the morphology and development of subaqueous margins. A unique combination of sub-bottom profile and bathymetric data collected between 2008 and 2010 in proglacial lakes at Mueller, Hooker and Tasman glaciers in New Zealand’s Southern Alps reveal subaqueous ice ramps extending up to 510 m from the terminus of each glacier. Ice ramp surfaces are undulating and covered with a thick layer (up to 10 m) of unsorted sediment derived from supraglacial and englacial debris, lateral moraines and deltaic deposits. A cyclic calving pattern, relatively stable lake level and the debris cover appear to control the development and maintenance of these ice ramps. High subaerial retreat rates generally correspond to high subaqueous calving rates, although the highest subaerial retreat rates are not associated with the largest ice ramp. Debris mantling the subaqueous ice ramp surfaces insulates the ice from melting and also reduces buoyant forces acting on the terminus. Comparisons with previous studies show that the ice ramps evolve over time with changes in glacier dynamics and water-body properties.
In a comparative study, optical and radio spectra are presented in order to further investigate violent turbulent motions in starburst galaxies. Emission-line, HI and OH profiles of IRAS 10039-3338 exhibit signs of a highly perturbed far-infrared galaxy. Remarkably narrow and distinct OH components are shown in the megamaser spectra. A molecular mass of 1010 MO is deduced from CO observations. The presence of comparable numbers of blue and red-shifted components is apparently not in favor of an outflow interpretation.
Morphometry has proven to be a useful tool, both for the clinician and horse owners, for evaluating the body condition in equids due to its objectivity, easiness and capacity for detection of important metabolic disturbances. However, limited information is available on the use of morphometric ratios to characterize regional and overall adiposity and much less about their application in different genders, ages and horses with different levels of obesity. The objectives were to evaluate body and neck absolute measurements and ratios; factors affecting them such as the influence of gender, age, appearance of the neck crest and overall body condition and; relationships among these measurements. A total of 154 Andalusian horses classified according to their gender, age, body score status and cresty neck condition were evaluated in this cross-sectional study. Two evaluators assigned a body condition score (BCS, 1 to 9) and a cresty neck score (CNS, 0 to 5) to each horse. Horses were divided into males and females; young (2 to 5 years) and adults (6 to 15 years); obese (BCS⩾7) and non-obese (BCS<7); cresty neck (CNS⩾3) and non-cresty neck horses (CNS<3). Morphometric measurements (cm) included were: height at the withers (HW); body length (BL), girth (GC) and waist (WC) circumferences; neck length (NL); three neck circumferences (NCs), over the first (NC25%), the second (NC50%) and the third part (NC75%) of the NL and neck crest height (NCH). These measurements were also used to calculate the following ratios: GC : HW, WC : HW, GC : BL, WC : BL, NC25% : HW, NC50% : HW, NC75% : HW, NC25% : BL, NC50% : BL, NC75% : BL, NC25% : NL, NC50% : NL, NC75% : NL, NC25% : NCH, NC50% : NCH and NC75% : NCH. The results showed that most of the absolute measurements and ratios were greater than those described in other light breeds. In addition, most neck ratios were higher (P<0.050) in males than in females, however, all body ratios were greater (P<0.001) in females. Among the absolute measurements, WC in obese horses and NC25% and NC75% in cresty neck horses highlighted as higher. Either GC : HW or WC : HW and NC75% : BL were alternative surrogates for the appraisal of overall and regional adiposity in Andalusians. Several interactions were observed between the gender and adiposity scoring systems affecting the morphometric evaluation. This study establishes absolute morphometric measurements and ratios in Andalusian horses. It also highlights the variability of morphometric values and how the outcome of these can be influenced by demographic variables and the breed analyzed. Further studies are necessary to set morphometric reference values in other breeds.
The aim of this paper was to validate an alternative multi-criteria evaluation system to assess animal welfare on farms based on the Welfare Quality® (WQ) project, using an example of welfare assessment of growing pigs. This alternative methodology aimed to be more transparent for stakeholders and more flexible than the methodology proposed by WQ. The WQ assessment protocol for growing pigs was implemented to collect data in different farms in Schleswig-Holstein, Germany. In total, 44 observations were carried out. The aggregation system proposed in the WQ protocol follows a three-step aggregation process. Measures are aggregated into criteria, criteria into principles and principles into an overall assessment. This study focussed on the first two steps of the aggregation. Multi-attribute utility theory (MAUT) was used to produce a value of welfare for each criterion and principle. The utility functions and the aggregation function were constructed in two separated steps. The MACBETH (Measuring Attractiveness by a Categorical-Based Evaluation Technique) method was used for utility function determination and the Choquet integral (CI) was used as an aggregation operator. The WQ decision-makers’ preferences were fitted in order to construct the utility functions and to determine the CI parameters. The validation of the MAUT model was divided into two steps, first, the results of the model were compared with the results of the WQ project at criteria and principle level, and second, a sensitivity analysis of our model was carried out to demonstrate the relative importance of welfare measures in the different steps of the multi-criteria aggregation process. Using the MAUT, similar results were obtained to those obtained when applying the WQ protocol aggregation methods, both at criteria and principle level. Thus, this model could be implemented to produce an overall assessment of animal welfare in the context of the WQ protocol for growing pigs. Furthermore, this methodology could also be used as a framework in order to produce an overall assessment of welfare for other livestock species. Two main findings are obtained from the sensitivity analysis, first, a limited number of measures had a strong influence on improving or worsening the level of welfare at criteria level and second, the MAUT model was not very sensitive to an improvement in or a worsening of single welfare measures at principle level. The use of weighted sums and the conversion of disease measures into ordinal scores should be reconsidered.
Approximately half of the variation in wellbeing measures overlaps with variation in personality traits. Studies of non-human primate pedigrees and human twins suggest that this is due to common genetic influences. We tested whether personality polygenic scores for the NEO Five-Factor Inventory (NEO-FFI) domains and for item response theory (IRT) derived extraversion and neuroticism scores predict variance in wellbeing measures. Polygenic scores were based on published genome-wide association (GWA) results in over 17,000 individuals for the NEO-FFI and in over 63,000 for the IRT extraversion and neuroticism traits. The NEO-FFI polygenic scores were used to predict life satisfaction in 7 cohorts, positive affect in 12 cohorts, and general wellbeing in 1 cohort (maximal N = 46,508). Meta-analysis of these results showed no significant association between NEO-FFI personality polygenic scores and the wellbeing measures. IRT extraversion and neuroticism polygenic scores were used to predict life satisfaction and positive affect in almost 37,000 individuals from UK Biobank. Significant positive associations (effect sizes <0.05%) were observed between the extraversion polygenic score and wellbeing measures, and a negative association was observed between the polygenic neuroticism score and life satisfaction. Furthermore, using GWA data, genetic correlations of -0.49 and -0.55 were estimated between neuroticism with life satisfaction and positive affect, respectively. The moderate genetic correlation between neuroticism and wellbeing is in line with twin research showing that genetic influences on wellbeing are also shared with other independent personality domains.
The aim of this paper was to present an alternative multi-criteria evaluation model to assess animal welfare on farms based on the Welfare Quality® (WQ) project, using an example of welfare assessment of growing pigs. The WQ assessment protocol follows a three-step aggregation process. Measures are aggregated into criteria, criteria into principles and principles into an overall assessment. This study focussed on the first step of the aggregation. Multi-attribute utility theory (MAUT) was used to produce a value of welfare for each criterion. The utility functions and the aggregation function were constructed in two separated steps. The Measuring Attractiveness by a Categorical Based Evaluation Technique (MACBETH) method was used for utility function determination and the Choquet Integral (CI) was used as an aggregation operator. The WQ decision-makers’ preferences were fitted in order to construct the utility functions and to determine the CI parameters. The methods were tested with generated data sets for farms of growing pigs. Using the MAUT, similar results were obtained to the ones obtained applying the WQ protocol aggregation methods. It can be concluded that due to the use of an interactive approach such as MACBETH, this alternative methodology is more transparent and more flexible than the methodology proposed by WQ, which allows the possibility to modify the model according, for instance, to new scientific knowledge.
We describe an X-ray polarimeter which will be flown on the SPECTRUM-X-Gamma mission. The instrument exploits three distinct physical processes to measure polarization: Bragg reflection from a graphite crystal, Thomson scattering from a metallic lithium target, and photoemission from a Cesium Iodide photocathode. These three processes allow polarization measurements over an energy band of 0.3 keV to 12 keV. The polarimeter will make possible sensitive measurements of several hundred known X-ray sources. X-ray polarization measurements will allow us to constrain the geometry of gas flow in X-ray binaries, identify nonthermal emission in supernova remnants, test current models for X-ray emission in radio pulsars, determine the radiation mechanisms in active galactic nuclei, and search for inertial frame dragging (Lense-Thirring effect) around the putative black hole in Cygnus X-1.
We analyzed birth order differences in means and variances of height and body mass index (BMI) in monozygotic (MZ) and dizygotic (DZ) twins from infancy to old age. The data were derived from the international CODATwins database. The total number of height and BMI measures from 0.5 to 79.5 years of age was 397,466. As expected, first-born twins had greater birth weight than second-born twins. With respect to height, first-born twins were slightly taller than second-born twins in childhood. After adjusting the results for birth weight, the birth order differences decreased and were no longer statistically significant. First-born twins had greater BMI than the second-born twins over childhood and adolescence. After adjusting the results for birth weight, birth order was still associated with BMI until 12 years of age. No interaction effect between birth order and zygosity was found. Only limited evidence was found that birth order influenced variances of height or BMI. The results were similar among boys and girls and also in MZ and DZ twins. Overall, the differences in height and BMI between first- and second-born twins were modest even in early childhood, while adjustment for birth weight reduced the birth order differences but did not remove them for BMI.
Glass-ceramics of eutectic composition in the wollastonite [W, CaO⋅SiO2]- tricalcium phosphate [TCP, β-Ca3(PO4)2] binary system were synthesized by using the glass-crystallization method. The parent glass was crystalized at 800-1300 °C for 0.5-5 h. The in vitro bioactivity of the synthesized glass-ceramics was tested in Kokubo’s Simulated Body Fluid (SBF) for 7-21 days, at pH = 7.4 and 37 °C. All materials were characterized by X-Ray Diffraction (XRD) and Scanning Electron Microscopy (SEM/EDS). The results showed that metastable Apatite phase [Ap, Ca10(PO4)6O], plus W and TCP phases expected according to the binary phase diagram, were formed. Ap was the first phase formed at 900 °C/0.5 h, which was followed by formation of W phase at 900 °C/2 h and of TCP phase at 1200 °C/0.5 h. The relative proportion of the formed crystalline phases was a function of heat treatment temperature and time. A eutectic microstructure was obtained for the materials heat-treated at 1300 °C for 2 or 5 h. All glass-ceramics showed the formation of a hydroxyapatite (HAp)-like layer during the in vitro bioactivity tests. After 21 days of soaking in SBF, the samples treated at 1300 °C/5 h showed a behavior similar to that typically shown by Bioeutectic® material, while the materials heat-treated at lower temperatures tended to form denser HAp-like layers, with similar thicknesses but with higher Ca/P molar ratios.