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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 new generation of high power laser facilities will provide laser pulses with extremely high powers of 10 petawatt (PW) and even 100 PW, capable of reaching intensities of
$10^{23}~\text{W}/\text{cm}^{2}$
in the laser focus. These ultra-high intensities are nevertheless lower than the Schwinger intensity
$I_{S}=2.3\times 10^{29}~\text{W}/\text{cm}^{2}$
at which the theory of quantum electrodynamics (QED) predicts that a large part of the energy of the laser photons will be transformed to hard Gamma-ray photons and even to matter, via electron–positron pair production. To enable the investigation of this physics at the intensities achievable with the next generation of high power laser facilities, an approach involving the interaction of two colliding PW laser pulses is being adopted. Theoretical simulations predict strong QED effects with colliding laser pulses of
${\geqslant}10~\text{PW}$
focused to intensities
${\geqslant}10^{22}~\text{W}/\text{cm}^{2}$
.
Diarrhea is a common cause of morbidity and mortality and the incidence of diarrhea in the world has changed little over the past four decades. To assess the prevalence of and healthcare practices for diarrhea, a cross-sectional study was conducted in Pudong, Shanghai, China. In October 2014, a total of 5324 community residents were interviewed. Respondents were asked if they had experienced diarrhea (defined as ⩾3 passages of watery, loose, bloody, or mucoid stools within a 24-h period) in the previous month prior to the interview. The monthly prevalence of diarrhea was 4·1% (95% CI: 3·3–4·8), corresponding to an incidence rate of 0·54 episodes per person-year. The proportion of individuals with diarrhea who sought healthcare was 21·2% (95% CI: 13·4–29·0). Diarrhea continues to impose a considerable burden on the community and healthcare system in Pudong. Young age and travel were identified as predictors of increased diarrhea occurrence.
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.
Method
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.
Results
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).
Conclusions
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 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.
In the past triennium members of the Commission 20 have been very active in studying positions and motions of minor planets, comets and satellites including rings by observational and theoretical investigations, as it is described in this report In fact observers have been producing tremendous amount of astrometric data, much more than we could imagine twenty years ago, when we heard many complains and appeals to observers for needs of more observations, particularly, for minor planets and satellites. Technically, several new devices to detect faint objects and to measure their positions more effectively, have been developed. Theoreticians have faced many interesting and important problems to explain observational facts with several powerful methods developed recently.
Interest in minor planets and comets continued to grow during the triennium, sparked in part by the highly successful 1983 mission of the Infrared Astronomy Satellite (IRAS) as well as by activities associated with the return of P/Halley and the first spacecraft missions to comets. A trial of the Astrometry Network of the International Halley Watch (IHW) on P/Crommelin was quite successful. Yet with an increasing need for precise ephemerides, there continued to be concern for acquisition and timely reporting of astrometric observations of even the best known comets.
The different components of the light of the night sky have their origin in different formations of matter in the universe - encompassing a huge scale of distances ranging from a few kilometers in the earth’s atmosphere to the most distant known galaxies and beyond. Correspondingly, the borderlines to other Commissions are not very well defined and thus material relevant to Commission 21 can also be found in the reports of other Commissions on the following topics: zodiacal light and zodiacal IR emission (Comm. 22, 44), integrated starlight (33, 25), diffuse galactic light (34), extragalactic background light (47), airglow and atmospheric scattered light (50), and space-borne observations of the LONS (44). From the Commission 21 point of view the connecting link between these various fields is the special techniques utilized in the surface photometric measurements and reductions of background radiations which extend over the entire sky. One crucial problem is the separation of the LONS into its several components. The approach for solving this task is to utilize the different spatial distributions and different broad and narrow band spectral properties of each of the LONS component. Thus the successful measurement and separation of one of the LONS components requires a knowledge of the properties of all the other components. This situation has become apparent in recent years as the infrared background radiation database, provided by the Infrared Astronomical Satellite (IRAS), has been analyzed: both the zodiacal and galactic dust emissions have to be analyzed hand in hand, and both these components must be very accurately mastered before any conclusions are possible on the extragalactic component. It is also obvious that very similar problems are encountered in the ultraviolet and infrared wavelength regions as in the more traditional optical domain. Thus the techniques developed in one of these wavelength domains are directly applicable in the others.
A radiochemical 71Ga−71 Ge experiment to determine the integral flux of neutrinos from the sun has been constructed at the Baksan Neutrino Observatory in the USSR. Measurements have begun with 30 tonnes of gallium. The experiment is being expanded with the addition of another 30 tonnes. The motivation, experimental procedures, and present status of this experiment are presented.
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.
Method
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).
Results
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.
Conclusions
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.
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.
Methods
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.
Results
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.
Conclusions
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.
Alloyed nanorods and hybrid nanostructures composed of CuInS2 and ZnS were synthesized by heating-up and hot-injection procedures. The synthesis starts with the formation of copper sulfide seeds, which are subsequently converted to copper sulfide – copper indium zinc sulfide hybrid nanostructures, by incorporation of indium and zinc ions. The fraction of ZnS within the alloyed material could be controlled by the amount of the Zn precursor in the reaction solution. In reactions with higher zinc precursor concentrations, at longer reaction times L-shaped hybrid nanostructures are formed of CuInS2-ZnS alloy and ZnS. An additional injection of the Zn-precursor into the reaction solution results in the formation of U-shaped hybrid nanostructures.
We report a novel approach for the on-line characterization of nucleation and growth kinetics of lead sulfide (PbS) quantum dots using droplet-based microfluidics. Monodisperse NIR-emitting PbS with optical bandgap between 680 to 1200 nm can be formed rapidly using two reaction schemes at different operating temperatures between 70 and 130°C and the temporal evolution of the absorption and fluorescence spectra are monitored in real-time using a microfluidic platform with an on-line absorption and fluorescence optical system. Therefore, this microfluidic platform is able to provide quantitative information on a millisecond (ms) time frame regarding the size, size distribution, concentration and emission characteristics of the generated nuclei and particles. To our knowledge, this represents the first microfluidic approach for the study of the nucleation and growth in high-temperature colloidal crystallization using in-situ absorption and photoluminescence spectroscopy.
The effects of ion motion on the generation of short-cycle relativistic laser pulses during radiation pressure acceleration are investigated by analytical modeling and particle-in-cell simulations. Studies show that the rear part of the transmitted pulse modulated by ion motion is sharper compared with the case of the electron shutter only. In this study, the ions further modulate the short-cycle pulses transmitted. A 3.9 fs laser pulse with an intensity of
$1.33\times 10^{21}\ {\rm W}\ {\rm cm}^{-2}$
is generated by properly controlling the motions of the electron and ion in the simulations. The short-cycle laser pulse source proposed can be applied in the generation of single attosecond pulses and electron acceleration in a small bubble regime.
Carefully timed tandem microbubbles have been shown to produce directional and targeted membrane poration of individual cells in microfluidic systems, which could be of use in ultrasound-mediated drug and gene delivery. This study aims at contributing to the understanding of the mechanisms at play in such an interaction. The dynamics of single and tandem microbubbles between two parallel plates is studied numerically and analytically. Comparisons are then made between the numerical results and the available experimental results. Numerically, assuming a potential flow, a three-dimensional boundary element method (BEM) is used to describe complex bubble deformations, jet formation, and bubble splitting. Analytically, compressibility and viscous boundary layer effects along the channel walls, neglected in the BEM model, are considered while shape of the bubble is not considered. Comparisons show that energy losses modify the bubble dynamics when the two approaches use identical initial conditions. The initial conditions in the boundary element method can be adjusted to recover the bubble period and maximum bubble volume when in an infinite medium. Using the same conditions enables the method to recover the full dynamics of single and tandem bubbles, including large deformations and fast re-entering jet formation. This method can be used as a design tool for future tandem-bubble sonoporation experiments.
A study of selective area epitaxy (SAE) of GalnP lattice matched to GaAs is presented. The selectively regrown GaInP is used as the emitter of a novel heterojunction bipolar transistor (HBT) device structure. Successful SAE of GalnP on both dark field (mostly covered) and light field (mostly open) SiO2 masks is compared. To characterize the critical regrown heterojunction, diodes and HBTs were fabricated and measured. It is found that a pre-growth pause of either TEGa or PH3 results in forward bias characteristics with low leakage and an ideality factor of ~1.25, indicating low interfacial defect density. Non-self aligned regrown emitter HBTs grown with a dark field mask scheme have been fabricated. Devices with an emitter area of 3x12 μm exhibit small signal current gain up to 80 with an fT and fMAX of 22 GHz and 18 GHz, respectively. To further improve the performance of these devices, a structure with a self-aligned refractory metal base contact and light field regrowth is proposed.