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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.
Sexually reproducing pathogens such as Cyclospora cayetanensis often produce genetically heterogeneous infections where the number of unique sequence types detected at any given locus varies depending on which locus is sequenced. The genotypes assigned to these infections quickly become complex when additional loci are analysed. This genetic heterogeneity confounds the utility of traditional sequence-typing and phylogenetic approaches for aiding epidemiological trace-back, and requires new methods to address this complexity. Here, we describe an ensemble of two similarity-based classification algorithms, including a Bayesian and heuristic component that infer the relatedness of C. cayetanensis infections. The ensemble requires a set of haplotypes as input and assigns arbitrary distances to specimen pairs reflecting their most likely relationships. The approach was applied to data generated from a test cohort of 88 human fecal specimens containing C. cayetanensis, including 30 from patients whose infections were associated with epidemiologically defined outbreak clusters of cyclosporiasis. The ensemble assigned specimens to plausible clusters of genetically related infections despite their complex haplotype composition. These relationships were corroborated by a significant number of epidemiological linkages (P < 0.0001) suggesting the ensemble's utility for aiding epidemiological trace-back investigations of cyclosporiasis.
We observed a bright H II complex, Hubble V in NGC 6822, using the high-resolution near-infrared spectrograph IGRINS (R = 45,000) attached on the 2.7 m telescope at the McDonald Observatory. We carried out a spectral mapping over a 15″ × 18″ region in the H and K bands using a slit-scanning technique. The emission lines Brγ and He i from ionized regions as well as molecular hydrogen lines from photo-dissociation regions (PDRs), were detected. We show three-dimensional maps of the emission lines and discuss the possibility of an expanding hot bubble structure within which many ionized components are around the central stellar cluster.
Pollinator declines coupled with increasing demand for insect pollinated crops have the potential to cause future pollinator shortages for our most nutritious and valuable crops. Ensuring adequate crop pollination may necessitate a shift in pollination management, from one that primarily relies on the managed European honeybee (Apis mellifera L.) to one that integrates alternative pollinators. While a growing body of scientific evidence supports significant contributions made by naturally occurring, native bees for crop pollination, translating research to practice requires buy-in from growers. The intention of agricultural extension is to address grower needs and concerns; however, few studies have assessed grower knowledge, perceptions and attitudes about native pollinators. Here we present findings from questionnaire-based surveys of over 600 apple growers in New York State and Pennsylvania, coupled with ecological data from bee surveys. This hybrid sociological and biological survey allows us to compare grower knowledge and perceptions to an actual pollinator census. While up to 93% of respondents highly valued importance of native bees, 20% growers did not know how much native bees actually contribute to their orchard pollination. Despite the uncertainty, a majority of growers were open to relying on native bees (up to 60% in NY and 67% in PA) and to making low-cost changes to their farm's management that would benefit native pollinators (up to 68 in NY and 85% in PA). Growers consistently underestimated bee diversity, but their estimates corresponded to major bee groups identifiable by lay persons, indicating accurate local knowledge about native bees. Grower reliance on honeybees increased with farm size; because native bee abundance did not measurably decrease with farm size, renting honeybees may be motivated by risk avoidance rather than grower perception of lower native bee activity. Demonstrated effectiveness of native pollinators and clear guidelines for their management were the most important factors influencing grower decision to actively manage orchards for native bees. Our results highlight a pressing need for an active and research-based extension program to support diversification of pollination strategies in the region.
Neuroticism, a ‘Big Five’ personality trait, has been associated with sub-clinical traits of both autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD). The objective of the current study was to examine whether causal overlap between ASD and ADHD traits can be accounted for by genetic and environmental risk factors that are shared with neuroticism. We performed twin-based structural equation modeling using self-report data from 12 items of the Neo Five-Factor Inventory Neuroticism domain, 11 Social Responsiveness Scale items, and 12 Adult ADHD Self-Report Scale items obtained from 3,170 young adult Australian individual twins (1,081 complete pairs). Univariate analysis for neuroticism, ASD, and ADHD traits suggested that the most parsimonious models were those with additive genetic and unique environmental components, without sex limitation effects. Heritability of neuroticism, ASD, and ADHD traits, as measured by these methods, was moderate (between 40% and 45% for each respective trait). In a trivariate model, we observed moderate phenotypic (between 0.45 and 0.62), genetic (between 0.56 and 0.71), and unique environmental correlations (between 0.37and 0.55) among neuroticism, ASD, and ADHD traits, with the highest value for the shared genetic influence between neuroticism and self-reported ASD traits (rg = 0.71). Together, our results suggest that in young adults, genetic, and unique environmental risk factors indexed by neuroticism overlap with those that are shared by ASD and ADHD.
The objective of this family-based whole exome sequencing (WES) is to examine genetic variants of autism spectrum disorder (ASD) in Korean population.
The probands with ASD and their biological parents were recruited in this study. We ascertained diagnosis based on DSM-5™ criteria, using Autism Diagnostic Observation Schedule and Autism Diagnostic Interview–Revised. We selected probands with typical phenotypes of ASD both in social interaction/communication and repetitive behaviour/limited interest domains, with intellectual disability (IQ < 70), for attaining homogeneity of the phenotypes. First, we performed WES minimum 50× for 13 probands and high-coverage pooled sequencing for their parents. We performed additional WES for 38 trio families, at least 100× depth. De novo mutations were confirmed by Sanger sequencing. All the sequence reads were mapped onto the human reference genome (hg19 without Y chromosome). Bioinformatics analyses were performed by BWA-MEM, Picard, GATK, and snpEff for variant annotation. We selected de novo mutation candidates from probands, which are neither detected in two pooled samples nor both parents.
Fifty-one subjects with ASD (5 females, 40∼175 months, mean IQ 42) and their families were included in this study. We discovered 109 de novo variants from 46 families. Twenty-nine variants are expected to be amino acid changing, potentially causing deleterious effects. We assume CELSR3, MYH1, ATXN1, IDUA, NFKB1, and C4A/C4B may have adverse effect on central nerve system.
We observed novel de novo variants which are assumed to contribute to development of ASD with typical phenotypes and low intelligence in WES study.
Disclosure of interest
This work has been supported by Healthcare Technology R&D project (No: A120029) by Ministry of Health and Welfare, Republic of Korea.
A radiocarbon (14C) dating technique with accelerator mass spectrometry (AMS) was applied to estimate the year of death and the year of birth of unidentified human remains. Because many of the samples have been preserved in formaldehyde, it was necessary to evaluate the influence of formaldehyde on carbon ages. Samples intentionally preserved in formaldehyde during the known period were measured, and their Δ14C values were compared with results obtained from fresh samples. The influence of formaldehyde on soft tissue was 14 times larger than that on cortical bone. Unfortunately, an effective method for removing the influence of formaldehyde has not yet been found. 14C ages could be obtained only from the samples not preserved in formaldehyde. The years of birth were determined by the ages of the dentin samples, while the years of death were determined by the ages of the bone and soft tissue samples. Multiple sampling from a body provides an advantage in determination of one of two possible ages of a sample obtained using the bomb peak. Victims of the Korean War were ascertained by the year of death. The year of death and the age at death of unidentified bodies were also determined for forensic investigation.
Osteoradionecrosis is a significant complication of head and neck cancer treatment, and its most severe form (grade III) necessitates radical surgery. This study aimed to compare the cost of free-flap reconstructive surgery for grade III osteoradionecrosis and similar non-osteoradionecrosis cases in order to assess the cost burden of osteoradionecrosis treatment.
All patients who underwent free-flap reconstructive surgery for osteoradionecrosis between July 2004 and July 2010 at Auckland City Hospital (19 patients) were identified, and relevant data were collected retrospectively. These patients were matched in terms of age and sex with patients who underwent free-flap reconstructive surgery.
The treatment cost was 44 per cent higher in osteoradionecrosis patients when compared to non-osteoradionecrosis patients.
The significant financial burden on the health system, and the growing evidence for the effectiveness of pentoxifylline, tocopherol and clodronate, should prompt us to explore this alternative treatment further.
We present recent observation results of Sgr A* at millimeter obtained with VLBI arrays in Korea and Japan.
7 mm monitoring of Sgr A* is part of our AGN large project. The results at 7 epochs during 2013-2014, including high resolution maps, flux density and two-dimensional size measurements are presented. The source shows no significant variation in flux and structure related to the G2 encounter in 2014. According to recent MHD simulations by kawashima et al., flux and magnetic field energy can be expected to increase several years after the encounter; We will keep our monitoring in order to test this prediction.
Astrometric observations of Sgr A* were performed in 2015 at 7 and 3.5 millimeter simultaneously. Source-frequency phase referencing was applied and a combined ”core-shift” of Sgr A* and a nearby calibrator was measured. Future observations and analysis are necessary to determine the core-shift in each source.
To characterize meal patterns across ten European countries participating in the European Prospective Investigation into Cancer and Nutrition (EPIC) calibration study.
Cross-sectional study utilizing dietary data collected through a standardized 24 h diet recall during 1995–2000. Eleven predefined intake occasions across a 24 h period were assessed during the interview. In the present descriptive report, meal patterns were analysed in terms of daily number of intake occasions, the proportion reporting each intake occasion and the energy contributions from each intake occasion.
Twenty-seven centres across ten European countries.
Women (64 %) and men (36 %) aged 35–74 years (n 36 020).
Pronounced differences in meal patterns emerged both across centres within the same country and across different countries, with a trend for fewer intake occasions per day in Mediterranean countries compared with central and northern Europe. Differences were also found for daily energy intake provided by lunch, with 38–43 % for women and 41–45 % for men within Mediterranean countries compared with 16–27 % for women and 20–26 % for men in central and northern European countries. Likewise, a south–north gradient was found for daily energy intake from snacks, with 13–20 % (women) and 10–17 % (men) in Mediterranean countries compared with 24–34 % (women) and 23–35 % (men) in central/northern Europe.
We found distinct differences in meal patterns with marked diversity for intake frequency and lunch and snack consumption between Mediterranean and central/northern European countries. Monitoring of meal patterns across various cultures and populations could provide critical context to the research efforts to characterize relationships between dietary intake and health.
Obsessive–compulsive disorder (OCD) has been associated with abnormal cognitive and emotional functions and these dysfunctions may be dependent on the disruption of dynamic interactions within neuronal circuits associated with emotion regulation. Although several studies have shown the aberrant cognitive–affective processing in OCD patients, little is known about how to characterize effective connectivity of the disrupted neural interactions. In the present study, we applied effective connectivity analysis using dynamic causal modeling to explore the disturbed neural interactions in OCD patients.
A total of 20 patients and 21 matched healthy controls performed a delayed-response working memory task under emotional or non-emotional distraction while undergoing functional magnetic resonance imaging.
During the delay interval under negative emotional distraction, both groups showed similar patterns of activations in the amygdala. However, under negative emotional distraction, the dorsolateral prefrontal cortex (DLPFC) and the orbitofrontal cortex (OFC) exhibited significant differences between groups. Bayesian model averaging indicated that the connection from the DLPFC to the OFC was negatively modulated by negative emotional distraction in patients, when compared with healthy controls (p < 0.05, Bonferroni-corrected).
Exaggerated recruitment of the DLPFC may induce the reduction of top-down prefrontal control input over the OFC, leading to abnormal cortico-cortical interaction. This disrupted cortico-cortical interaction under negative emotional distraction may be responsible for dysfunctions of cognitive and emotional processing in OCD patients and may be a component of the pathophysiology associated with OCD.
We present an autonomous visual landmark recognition and pose estimation algorithm designed for use in navigation of spacecraft around small asteroids. Landmarks are selected as generic points on the asteroid surface that produce strong Harris corners in an image under a wide range in viewing and illumination conditions; no particular type of morphological feature is required. The set of landmarks is triangulated to obtain a tightly fitting mesh representing an optimal low resolution model of the natural asteroid shape, which is used onboard to determine the visibility of each landmark and enables the algorithm to work with highly concave bodies. The shape model is also used to estimate the centre of brightness of the asteroid and eliminate large translation errors prior to the main landmark recognition stage. The algorithm works by refining an initial estimate of the spacecraft position and orientation. Tests with real and synthetic images show good performance under realistic noise conditions. Using simulated images, the median landmark recognition error is 2m, and the error on the spacecraft position in the asteroid body frame is reduced from 45m to 21m at a range of 2km from the surface. With real images the translation error at 8km to the surface increases from 107m to 119m, due mainly to the larger range and lack of sensitivity to translations along the camera boresight. The median number of landmarks detected in the simulated and real images is 59 and 44 respectively. This algorithm was partly developed and tested during industrial studies for the European Space Agency’s Marco Polo-R asteroid sample return mission.
Obsessive-compulsive disorder (OCD) is a chronic, relapsing mental illness. Selective serotonin reuptake inhibitors block serotonin transporters (SERTs) and are the mainstay of treatment for OCD. SERT abnormalities are reported in drug-free patients with OCD, but it is not known what happens to SERT levels during treatment. This is important as alterations in SERT levels in patients under treatment could underlie poor response, or relapse during or after treatment. The aim of the present study was first to validate a novel approach to measuring SERT levels in people taking treatment and then to investigate SERT binding potential (BP) using [11C]DASB PET in patients with OCD currently treated with escitalopram in comparison with healthy controls.
Twelve patients and age- and sex-matched healthy controls were enrolled. The patients and healthy controls underwent serial PET scans after administration of escitalopram and blood samples for drug concentrations were collected simultaneously with the scans. Drug-free BPs were obtained by using an inhibitory Emax model we developed previously.
The inhibitory Emax model was able to accurately predict drug-free SERT BP in people taking drug treatment. The drug-free BP in patients with OCD currently treated with escitalopram was significantly different from those in healthy volunteers [Cohen's d = 0.03 (caudate), 1.16 (putamen), 1.46 (thalamus), −5.67 (dorsal raphe nucleus)].
This result extends previous findings showing SERT abnormalities in drug-free patients with OCD by indicating that altered SERT availability is seen in OCD despite treatment. This could account for poor response and the high risk of relapse in OCD.
Attention deficit hyperactivity disorder (ADHD) is a common, highly heritable psychiatric disorder. Additionally, environmental factors such as perinatal stress and early adversities contribute to the occurrence and severity of ADHD. Recently, DNA methylation has emerged as a mechanism that potentially mediates gene–environmental interaction effects in the aetiology and phenomenology of psychiatric disorders. Here, we investigated whether serotonin transporter gene (SLC6A4) methylation patterns were associated with clinical characteristics and regional cortical thickness in children with ADHD.
In 102 children with ADHD (age 6–15 years), the methylation status of the SLC6A4 promoter was measured. Brain magnetic resonance imaging was obtained and ADHD symptoms were evaluated.
A higher methylation status of the SLC6A4 promoter was significantly associated with worse clinical presentations (more hyperactive-impulsive symptoms and more commission errors). Additionally, a negative correlation was observed between SLC6A4 methylation levels and cortical thickness values in the right occipito-temproral regions.
Our results suggest that the SLC6A4 methylation status may be associated with certain symptoms of ADHD, such as behavioural disinhibition, and related brain changes. Future studies that use a larger sample size and a control group are required to corroborate these results.