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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.
Cognitive deficits are a core feature of schizophrenia, and impairments in most domains are thought to be stable over the course of the illness. However, cross-sectional evidence indicates that some areas of cognition, such as visuospatial associative memory, may be preserved in the early stages of psychosis, but become impaired in later established illness stages. This longitudinal study investigated change in visuospatial and verbal associative memory following psychosis onset.
In total 95 first-episode psychosis (FEP) patients and 63 healthy controls (HC) were assessed on neuropsychological tests at baseline, with 38 FEP and 22 HCs returning for follow-up assessment at 5–11 years. Visuospatial associative memory was assessed using the Cambridge Neuropsychological Test Automated Battery Visuospatial Paired-Associate Learning task, and verbal associative memory was assessed using Verbal Paired Associates subtest of the Wechsler Memory Scale - Revised.
Visuospatial and verbal associative memory at baseline did not differ significantly between FEP patients and HCs. However, over follow-up, visuospatial associative memory deteriorated significantly for the FEP group, relative to healthy individuals. Conversely, verbal associative memory improved to a similar degree observed in HCs. In the FEP cohort, visuospatial (but not verbal) associative memory ability at baseline was associated with functional outcome at follow-up.
Areas of cognition that develop prior to psychosis onset, such as visuospatial and verbal associative memory, may be preserved early in the illness. Later deterioration in visuospatial memory ability may relate to progressive structural and functional brain abnormalities that occurs following psychosis onset.
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.
Optical components such as lenses, glass windows, and prisms are subject to Fresnel reflection due to the mismatch between the refractive indices of the air and glass. An optical interface layer, i.e., antireflection (AR) layer, is needed to eliminate this unwanted reflection at the air/glass interface. Nanostructured broadband and wide-angle AR structures have been developed using a scalable self-assembly process. Ultra-high performance of the nanostructured AR coatings has been demonstrated on various substrates such as quartz, sapphire, polymer, and other materials typically employed in optical lenses. AR coatings on polycarbonate lead to optical transmittance enhancement from approximately 90% to almost 100% for the entire visible, and part of the near-infrared (NIR), band. The AR coatings have also been demonstrated on curved surfaces. AR coatings on n-BK7 lenses enable ultra-high light transmittance for the entire visible, and most of the NIR, spectrum. Nanostructured oxide layers with step-graded index profiles, deposited onto the optical elements of an optical system, can significantly increase sensitivity, and hence improve the overall performance of the system.
We discuss the role of Configuration Interaction (CI) and the influence of the number of
configurations taken into account in the calculations of nickel and iron spectral
opacities provided by the OPAC international collaboration, including statistical
approaches (SCO, CASSANDRA, STA), detailed accounting (OPAS, LEDCOP, OP, HULLAC-v9) or
hybrid method (SCO-RCG). Opacity calculations are presented for a temperature T of 27.3 eV
and a density of 3.4 mg/cm3, conditions relevant for pulsating stellar
Within the Herschel key project “The Warm And Dense ISM” (WADI) we systematically observe
a number of prominent photon-dominated regions (PDRs) to measure the impact of varying UV
fields on the energy balance, the chemical and dynamical structure of heated molecular
Early results from the SAGE-SMC (Surveying the Agents of Galaxy Evolution in the tidally-disrupted, low-metallicity Small Magellanic Cloud) Spitzer legacy program are presented. These early results concentrate on the SAGE-SMC MIPS observations of the SMC Tail region. This region is the high H i column density portion of the Magellanic Bridge adjacent to the SMC Wing. We detect infrared dust emission and measure the gas-to-dust ratio in the SMC Tail and find it similar to that of the SMC Body. In addition, we find two embedded cluster regions that are resolved into multiple sources at all MIPS wavelengths.
Observations using the HIFI and PACS instruments aboard the Herschel
satellite provide a unique way to study the chemical inventory,
the dynamics, and the energy balance in dense interstellar clouds heated by
UV radiation. We propose a comprehensive observing program to reveal
the details of the interaction of massive young stars with their
parental molecular clouds.
We discuss in this paper the new science perspectives that a near infrared (NIR) spectropolarimeter
installed on a 4 m class telescope at Dome C in Antartica would offer to the astrophysics
community worldwide, in very diverse research fields such as stellar formation, extra solar
planets, stellar magnetism and activity, asteroseismology, circumstellar environments,
interstellar medium, galactic and extragalactic physics. We also propose an instrument concept
with estimated performances, as well as an example 2-step scenario for the construction of this
We have previously demonstrated that blending biodegradable glycine co-substituted polyphosphazenes with poly(lactide-co-glycolide) (PLAGA) results in novel biomaterials with versatile properties. The study showed that the degradation rate of polyphosphazene/PLAGA blends can be effectively controlled by varying the blend composition while at the same time the degradation products of polyphosphazenes effectively neutralized the acidic degradation products of PLAGA. In the present study, novel blends of hydrophobic, biodegradable polyphosphazene, poly[bis(ethyl alanato) phosphazene] (PNEA) and PLAGA (LA: GA; 85:15) were developed as candidates for bone tissue engineering applications. Two different blend compositions were developed by blending PNEA and PLAGA having weight ratios of 25:75 (Blend-1) and 50:50 (Blend-2) by the mutual solvent technique using dichloromethane as the solvent. The miscibility of the blends was determined using differential scanning calorimetry (DSC), fourier transform-infrared spectroscopy (FT-IR), and scanning electron microscopy (SEM). Surface analysis of the blends by SEM revealed a smooth uniform surface for Blend-1, whereas Blend-2 showed evidence of phase separation. PNEA is not completely miscible with PLAGA, as evidenced from DSC and FT-IR measurements. The osteocompatibilities of Blend-1 and Blend-2 were compared to those of parent polymers by following the adhesion and proliferation of primary rat osteoblast cells on two dimensional (2-D) polymer and blend films over a 21 day period in culture. Blend films showed significantly higher cell numbers on the surface compared to PLAGA and PNEA films.
Background. Intellectual impairments are a recognized feature of tuberous sclerosis complex (TSC), but the frequency and degree of intellectual impairments has not been systematically studied in large epidemiological samples using standardized measures. As such, the form of the IQ distribution (uni- or bi-modal) has not been established and the relationship between IQ and other features (e.g. epilepsy history) is poorly delineated. To address these shortcomings, we assessed the intellectual abilities of a large epidemiological sample of individuals with TSC, drawn from the ‘Wessex’ area of SW England and compared them with the abilities of their unaffected siblings.
Method. Standardized tests were used to estimate the abilities of 108 (56 males, 52 females, median age=25, range=4–75) individuals with TSC and 29 unaffected siblings (14 males, 15 females, median age=18, range=6–55). Seizure history was obtained from informants and medical records.
Results. Estimated IQ was bi-modally distributed: 55·5% had an IQ in the normal range; 14% had mild to severe impairments; and 30·5% had profound disability (IQ<21). Forty-four per cent of the individuals with TSC had an IQ<70. In the subset of normally intelligent individuals with TSC, IQ was normally distributed with a mean of 93·6. This mean was significantly lower than the mean IQ of unaffected siblings (IQ=105·6). All individuals with learning disability had a history of seizures that usually commenced before 12 months of age and that often presented as infantile spasms. Multivariate analyses indicated that a history of seizures as well as a history of infantile spasms was predictive of the degree of intellectual impairment.
Conclusions. Intellectual abilities were bi-modally distributed in a representative sample of individuals with TSC. The likelihood of impairment was associated with a history of seizures, particularly infantile spasms. The genetic and brain basis of these findings requires further investigation.
Lateral epitaxial overgrowth (LEO) technique has recently been used to improve the quality of semiconductor layers grown on a substrate. Previous studies with GaN grown on sapphire showed a significant reduction in dislocation density in LEO layers. The LEO technique uses a thin mask layer to achieve selective epitaxy, allowing vertical and lateral growth through patterned windows. Reduced defect density is expected in laterally grown materials, since no lattice mismatch is involved. In practice, however, the thermal and mismatch stresses often cause dislocations to propagate laterally during LEO, and excessive dislocation activities induced by the stresses also tilt the LEO regions. GaSb-based semiconductors, which are of interest for infrared optoelectronic device applications, have much larger (∼8%) lattice constants than the commonly used GaAs substrate. The LEO technique is therefore of particular interest for its potential to significantly reduce the defect density in GaSb films grown on GaAs substrates.