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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.
X-ray diffraction angles are measured precisely, conveniently, and automatically by a specially designed instrument, the automatic precision X-ray goniometer connected on line to an Elliott 903B data processor. A monitor program controls two such instruments and two diffractometers simultaneously and allows a comprehensive set of experiments to be performed. The sensitivity is such that, when translated into terms of changes in the crystal-lattice parameter, a precision of 1 part in 10,000,000 is being attained, and indications are that absolute measurements are almost as good. The procedures, instrument, and automatic control are described, and the results of performance tests and some applications are given.
Here we present the synthesis of porous platinum–palladium macrobeams templated from high aspect ratio Magnus’ salt needle derivatives. The combination of [PtCl4]2− and/or [PdCl4]2− with [Pt(NH3)4]2+ ions results in salt needles ranging from 15 to 300 µm in length. Electrochemical reduction of the salt templates results in porous macrobeams with a square cross-section. Porous side wall texture and elemental composition was controlled with initial platinum to palladium salt ratio. Macrobeam free-standing films exhibited a specific capacitance up to 11.73 F/g and a solvent accessible surface area of 26.6 m2/g. These salt-templated porous platinum–palladium macrobeams offer a promising material for fuel cell catalysis.
Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) represent a disease continuum with common genetic causes and molecular pathology. We recently identified mutations in the T-cell restricted intracellular antigen-1 (TIA1) protein as a cause of ALS +/− FTD. TIA1 is an RNA-binding protein containing a low complexity domain (LCD) that promotes the assembly of membrane-less organelles, such as stress granules (SG). Whole exome sequencing of two family members with fALS/FTD revealed a novel missense mutation in the TIA1 LCD (P362L). Subsequent screening identified five more TIA1 mutations in six additional ALS patients, but none in controls. All mutation carriers presented with weakness, behavioral abnormalities or language impairments and had a final diagnosis of ALS +/− FTD. Autopsy on five TIA1 mutation carriers showed widespread neurodegeneration with TDP-43 pathology. Round eosinophilic inclusions in lower motor neurons were a consistent feature. Cellular assays revealed abnormal SG dynamics in the presence of TIA1 mutations. In summary, missense mutations in the LCD of TIA1 are a newly recognized cause of ALS/FTD with TDP-43 pathology and strengthen the role of RNA metabolism in the pathogenesis in this disease.
Poor animal performance associated with low digestibility silages results partly from the reduced nutrient yield per unit intake, but also from the associated lower intakes which were presumed to be a consequence of rumen fill effects. Legume silages have a lower average digestibility than grass silages, and yet often have higher intake characteristics. The objective of this work was to compare rumen fill and rumen particle size distribution for animals fed grass silage or legume silage-based diets.
The efficiency of grass nitrogen utilisation for milk production tends to be low, due partly to the slow rate of release of energy in the rumen which reduces the efficiency of capture of rapidly degradable plant proteins by the rumen microbial population. When additional sugars are infused into the rumen, microbial protein production is increased (Rooke et al., 1987). The objective of this study was to assess milk production using a grass variety that has been bred to express elevated water soluble carbohydrate (WSC) concentrations.
Eight multiparous Holstein-Friesian dairy cows in mid lactation (176 days ± s.e. 3.6) were used in a continuous design, zero-grazing experiment. Following covariate measurements taken from all animals on a standard grazing diet, four animals were each offered one of two varieties of perennial ryegrass at ad libitum rate: AberDove, bred to express high WSC concentrations; and AberElan, a commercially available variety, used as a control.
Whether monozygotic (MZ) and dizygotic (DZ) twins differ from each other in a variety of phenotypes is important for genetic twin modeling and for inferences made from twin studies in general. We analyzed whether there were differences in individual, maternal and paternal education between MZ and DZ twins in a large pooled dataset. Information was gathered on individual education for 218,362 adult twins from 27 twin cohorts (53% females; 39% MZ twins), and on maternal and paternal education for 147,315 and 143,056 twins respectively, from 28 twin cohorts (52% females; 38% MZ twins). Together, we had information on individual or parental education from 42 twin cohorts representing 19 countries. The original education classifications were transformed to education years and analyzed using linear regression models. Overall, MZ males had 0.26 (95% CI [0.21, 0.31]) years and MZ females 0.17 (95% CI [0.12, 0.21]) years longer education than DZ twins. The zygosity difference became smaller in more recent birth cohorts for both males and females. Parental education was somewhat longer for fathers of DZ twins in cohorts born in 1990–1999 (0.16 years, 95% CI [0.08, 0.25]) and 2000 or later (0.11 years, 95% CI [0.00, 0.22]), compared with fathers of MZ twins. The results show that the years of both individual and parental education are largely similar in MZ and DZ twins. We suggest that the socio-economic differences between MZ and DZ twins are so small that inferences based upon genetic modeling of twin data are not affected.
We aimed to describe the natural history of heavy episodic drinking (HED) and associated harms from adolescence to young adulthood in a large Australian population cohort study.
The Australian Temperament Project consists of mothers and babies (4–8 months) recruited from Infant Welfare Centres and followed every 2 to 4 years until age 28 years. Analyses were based on data from 1156 young people (497 male; 659 female) surveyed repeatedly at ages 16, 18, 20, 24 and 28 years. We used dual processes latent class growth analysis to estimate trajectories of HED and associated harms, employing a piecewise approach to model the hypothesized rise and subsequent fall across adolescence and the late twenties, respectively.
We identified four sex-specific trajectories and observed little evidence of maturing-out across the twenties. In males, a normative pattern of increasing HED across the twenties with little related harm was observed (40% of the male sample). Early and late starter groups that peaked in harms at age 20 years with only minor attenuation in binging thereafter were also observed (6.1% and 35%, respectively). In females, a normative pattern of increasing, but moderate, HED with little related harm was observed (44% of the female sample). Early and late starter groups were also identified (18% and 17%, respectively); however, unlike males, the female late starter group showed a pattern of increasing HED and related harms.
Continued patterns of risky alcohol use and related harms are apparent for both males and females across the twenties.
Predicting recurrent Clostridium difficile infection (rCDI) remains difficult. METHODS. We employed a retrospective cohort design. Granular electronic medical record (EMR) data had been collected from patients hospitalized at 21 Kaiser Permanente Northern California hospitals. The derivation dataset (2007–2013) included data from 9,386 patients who experienced incident CDI (iCDI) and 1,311 who experienced their first CDI recurrences (rCDI). The validation dataset (2014) included data from 1,865 patients who experienced incident CDI and 144 who experienced rCDI. Using multiple techniques, including machine learning, we evaluated more than 150 potential predictors. Our final analyses evaluated 3 models with varying degrees of complexity and 1 previously published model.
Despite having a large multicenter cohort and access to granular EMR data (eg, vital signs, and laboratory test results), none of the models discriminated well (c statistics, 0.591–0.605), had good calibration, or had good explanatory power.
Our ability to predict rCDI remains limited. Given currently available EMR technology, improvements in prediction will require incorporating new variables because currently available data elements lack adequate explanatory power.
Evidence-based psychosocial treatments for schizophrenia founded on Western belief systems and values may not be efficacious in different cultures without adaptation. This systematic review analyses the nature and outcomes of culturally-adapted psychosocial interventions in schizophrenia, examining how interventions have been adapted, their efficacy and what features drive heterogeneity in outcome.
Articles identified by searching electronic databases from inception to 3 March 2016, reference lists and previous reviews were independently screened by two authors for eligible controlled trials. Data on the nature of adaptations was analysed inductively using thematic analyses. Meta-analyses were conducted using random effects models to calculate effect sizes (Hedges’ g) for symptoms.
Forty-six studies with 7828 participants were included, seven adapted for minority populations. Cultural adaptations were grouped into nine themes: language, concepts and illness models, family, communication, content, cultural norms and practices, context and delivery, therapeutic alliance, and treatment goals. Meta-analyses showed significant post-treatment effects in favour of adapted interventions for total symptom severity (n = 2345, g: −0.23, 95% confidence interval (CI) −0.36 to −0.09), positive (n = 1152, g: −0.56, 95% CI −0.86 to −0.26), negative (n = 855, g: −0.39, 95% CI −0.63 to −0.15), and general (n = 525, g: −0.75, CI −1.21 to −0.29) symptoms.
The adaptation process can be described within a framework that serves as a benchmark for development or assessment of future adaptations. Culturally adapted interventions were more efficacious than usual treatment in proportion to the degree of adaptation. There is insufficient evidence to show that adapted interventions are better than non-adapted interventions. Features of context, intervention and design influenced efficacy. Investigating whether adaptation improves efficacy, most importantly amongst ethnic minorities, requires better designed trials with comparisons against unadapted interventions.
A new method of electromagnetic sounding in resistive electrical environments has been developed for use in lunar exploration. It is applicable to the study of terrestrial glaciers and ice sheets. A horizontal electric dipole antenna on the ground is used to transmit power at frequencies of 1, 2, 4, 8, 16 and 32 MHz. A set of orthogonal receiving coils is mounted on a vehicle which traverses away from the transmitter. Field strength is recorded as a function of distance. Waves which travel above the surface interfere with waves from the subsurface, generating interference patterns which can be used to determine the dielectric constant, the loss tangent, and depth to reflecting horizons.
The technique was tested on the Athabasca Glacier in western Canada. At 1, 2 and 4 MHz the ice was found to have a dielectric constant of about 3.3, a loss tangent (tan δ) which is roughly inversely proportional to frequency giving values of f tan δ in the range 0.25 to 0.35 (where f is in MHz). These values correspond well with the known properties of ice near 0° C, which is a temperature typical of temperate glaciers. It has been possible to determine the depth of the ice but results are not always consistent with previous seismic and gravity surveys and with drilling. At frequencies of 16 and 32 MHz, scattering is the dominant feature of the results. At 8 MHz there is a transition from clear-cut interference patterns to the scattering patterns. From these findings, we suggest that the Athabasca Glacier has a large number of dielectric scatterers with dimensions less than about 35 m, probably due in large part to crevasses.
We present VLA HI imaging of the blue compact dwarf (BCD) galaxy Haro 2 and a map of its CO(1-0) distribution obtained with the OVRO millimeter array. In addition we obtained NIR JH images with the 2.1m telescope of Mexico's National Optical Observatory (OAN) and derived surface brightness profiles. Combining all these results we find an intriguing picture: the HI reveals that the kinematical major axis lies perpendicular to the photometric major axis. Our observations support the suggestion that this configuration is due to recent capture of an important quantity of gas of external origin.
The Hubble Deep Field (HDF, Williams et al. 1996), recently acquired with the Hubble Space Telescope, is the deepest, most detailed optical view of the Universe. Even though intended primarily for the study of the high-redshift Universe, the HDF provides a unique opportunity to find faint stellar objects in our Galaxy, set constraints on number of low-mass Halo stars, estimate the contribution of baryonic matter to the dark Halo, investigate the nature of microlensing sources, and to calibrate Galactic Structure models. The HDF has been an STScI initiative to provide the deepest exposures yet acquired with HST on a non-proprietary basis. Observations of an ‘anonymous field’ located at l = 125.9°, b = 54.8° were performed on the continuous viewing zone, for a total of 150 orbits (10 consecutive days) in the four HST passbands F300W, F450W, F606W and F814W. These observations reached 5σ magnitude limits (for Galaxies) of roughly (STMAG) 30th mag in all these passbands (except F300W which reaches 27th mag). We have used a novel software detection & classification algorithm to create a sample of point-like objects in the HDF. We have also compared the observed stellar counts to constrain the faint end of the Halo field luminosity function by using a recent Galactic Structure model. The unexpected appearance of a faint-blue group of very compact objects is discussed as well.
The field of variable-star research is so broad that no report of this nature could possibly mention all the papers that have appeared in the last three years. It is hoped, however, that the reviews below include the most important work and identify the most significant trends. This report comprises ten sections on as many different research topics, each written by a different member of Commission 27. In addition there are (in Section 12) three short reports about ongoing activities of the commission. The commission president is very grateful to the authors of the individual contributions who have worked so conscientously.
Epidemiological data regarding group A streptococcal (GAS) infections in South East Asia are scarce with no information from Laos. We characterized emm types, emm clusters and the antibiotic resistance profile of 124 GAS isolates recovered in Laos during 2004–2013. Most strains were recovered from skin and invasive infections (76% and 19%, respectively). Thirty-four emm types were identified as belonging to 12 emm clusters and no novel emm types were identified. No significant differences were observed in the distribution of emm types or emm clusters according to age or site of recovery (skin or invasive infections). There was moderate strain diversity in this country but considerable differences in emm-type distribution between Laos, Thailand and Cambodia. Vaccine coverage was high for the J8 vaccine candidate. The theoretical coverage for the 30-valent vaccine candidate needs further investigation. Antibiotic resistance was moderate to erythromycin and chloramphenicol (8% and 7%, respectively) and low to ofloxacin (<1%).
An observational study of neuropsychological outcomes at preschool age of tiered lowered oxygen (O2) saturation targets in extremely preterm neonates. We studied 111 three-year-olds born <28 weeks’ gestational age. Fifty-nine participants born in 2009–2010 during a time-limited quality improvement initiative each received three-tiered stratification of oxygen rates (83–93% until age 32 weeks, 85–95% until age 35 weeks, and 95% after age 35 weeks), the TieredO2 group. Comparisons were made with 52 participants born in 2007–2008 when pre-initiative saturation targets were non-tiered at 89–100%, the Non-tieredO2 group. Neuropsychological domains included general intellectual, executive, attention, language, visuoperceptual, visual-motor, and fine and gross motor functioning. Descriptive and inferential analyses were conducted. Group comparisons were not statistically significant. Descriptively, the TieredO2 group had better general intellectual, executive function, visual-motor, and motor performance and the Non-tieredO2 group had better language performance. Cohen’s d and confidence intervals around d were in similar direction and magnitude across measures. A large effect size was found for recall of digits-forward in participants born at 23 and 24 weeks’ gestation, d=0.99 and 1.46, respectively. Better TieredO2 outcomes in all domains except language suggests that the tiered oxygen saturation target method is not harmful and merits further investigation through further studies. Benefit in auditory attention appeared greatest in those born at 23 and 24 weeks. Participants in the tiered oxygen saturation group also had fewer ventilation days and a lower incidence of bronchopulmonary dysplasia, perhaps explanatory for these neuropsychological outcomes at age 3. (JINS, 2015, 21, 322–331)
A trend toward greater body size in dizygotic (DZ) than in monozygotic (MZ) twins has been suggested by some but not all studies, and this difference may also vary by age. We analyzed zygosity differences in mean values and variances of height and body mass index (BMI) among male and female twins from infancy to old age. Data were derived from an international database of 54 twin cohorts participating in the COllaborative project of Development of Anthropometrical measures in Twins (CODATwins), and included 842,951 height and BMI measurements from twins aged 1 to 102 years. The results showed that DZ twins were consistently taller than MZ twins, with differences of up to 2.0 cm in childhood and adolescence and up to 0.9 cm in adulthood. Similarly, a greater mean BMI of up to 0.3 kg/m2 in childhood and adolescence and up to 0.2 kg/m2 in adulthood was observed in DZ twins, although the pattern was less consistent. DZ twins presented up to 1.7% greater height and 1.9% greater BMI than MZ twins; these percentage differences were largest in middle and late childhood and decreased with age in both sexes. The variance of height was similar in MZ and DZ twins at most ages. In contrast, the variance of BMI was significantly higher in DZ than in MZ twins, particularly in childhood. In conclusion, DZ twins were generally taller and had greater BMI than MZ twins, but the differences decreased with age in both sexes.
We have developed a new method for controlling the size, crystallinity, and polydispersity of 100–2000 nm tetrafluoride phosphor particles. Five polyol-based deep eutectic solvents (DESs) were downselected out of a set of more than 130 candidates. We analyzed their benefits in synthesizing phosphor matrix particles of β-NaYF4, β-NaYbF4, and β-NaGdF4. We produced green (λmax = 540 nm) and blue/UV (λmax = 450 nm) upconverting phosphors in DES using Yb,Er and Yb,Tm codopants, respectively. The blue/UV phosphor reaction was scaled the up to 25 L, yielding nearly 400 g of high-quality, bright photoluminescent, β-phase product under mild conditions. We conclude that polyol-based DES systems offer a uniquely specialized and useful toolkit for phosphor synthesis.
For over 100 years, the genetics of human anthropometric traits has attracted scientific interest. In particular, height and body mass index (BMI, calculated as kg/m2) have been under intensive genetic research. However, it is still largely unknown whether and how heritability estimates vary between human populations. Opportunities to address this question have increased recently because of the establishment of many new twin cohorts and the increasing accumulation of data in established twin cohorts. We started a new research project to analyze systematically (1) the variation of heritability estimates of height, BMI and their trajectories over the life course between birth cohorts, ethnicities and countries, and (2) to study the effects of birth-related factors, education and smoking on these anthropometric traits and whether these effects vary between twin cohorts. We identified 67 twin projects, including both monozygotic (MZ) and dizygotic (DZ) twins, using various sources. We asked for individual level data on height and weight including repeated measurements, birth related traits, background variables, education and smoking. By the end of 2014, 48 projects participated. Together, we have 893,458 height and weight measures (52% females) from 434,723 twin individuals, including 201,192 complete twin pairs (40% monozygotic, 40% same-sex dizygotic and 20% opposite-sex dizygotic) representing 22 countries. This project demonstrates that large-scale international twin studies are feasible and can promote the use of existing data for novel research purposes.