Inherited risk for autism through maternal and paternal lineage

BACKGROUND: Autism spectrum disorder (ASD) is highly familial, with a positively skewed male-to-female ratio that is purported to arise from the so-called female protective effect. A serious implication of a female protective effect is that familial ASD liability would be expected to aggregate asymptomatically in sisters of affected probands, who would incur elevated rates of ASD among their offspring. Currently, there exist no data on second-generation recurrence rates among families affected by ASD. METHODS: We analyzed data from the Swedish National Patient Register and the Multi-Generation Register for a cohort of children born between 2003 and 2012. ASD was ascertained in both the child and parental generations. RESULTS: Among 847,732 children, 13,103 (1.55%) children in the cohort were diagnosed with ASD. Among their maternal/paternal aunts and uncles, 1744 (0.24%) and 1374 (0.18%) were diagnosed with ASD, respectively. Offspring of mothers with a sibling(s) diagnosed with ASD had higher rates of ASD than the general population (relative risk, 3.05; 95% confidence interval, 2.52-3.64), but not more than would be predicted for second-degree relatives within a generation, and only slightly more than was observed for fathers with siblings with ASD (relative risk, 2.08; 95% confidence interval, 1.53-2.67). Models adjusting for temporal trends and for psychiatric history in the parental generation did not alter the results. CONCLUSIONS: These findings establish a robust general estimate of ASD transmission risk for siblings of individuals affected by ASD, the first ever reported. Our findings do not suggest female protective factors as the principal mechanism underlying the male sex bias in ASD

Measuring Water Transport Efficiency in the Yangtze River Economic Zone, China

Water transport, a component of integrated transport systems, is a key strategic resource for achieving sustainable economic and social development, particularly in the Yangtze River Economic Zone (YREZ). Unfortunately, systematic studies on water transport efficiency are not forthcoming. Using Data Envelopment Analysis (DEA) and the Malmquist index as a model framework, this paper measures water transport efficiency in YREZ, conducts spatial analysis to identify the leading factors influencing efficiency, and provides scientific evidence for a macroscopic grasp of water transport development and the optimization of YREZ. The results indicate that water transport technical efficiency (TE) in YREZ is low and in fluctuating decline. Therefore, it has seriously restricted performance and improvements in the service function. Additionally, the spatial pattern of TE has gradually changed from complexity and dispersion to clarity and contiguity with a larger inter-provincial gap. Water transport efficiency has slightly improved through technological change (TECHch), whereas deteriorating pure technical efficiency change (PEch) is the main cause of a TE decrease. According to our findings, decision-makers should consider strengthening intra-port competition and promoting water transport efficiency

Landfill extension developments in Hong Kong : a study of agenda setting and policy dynamics

published_or_final_versionPolitics and Public AdministrationMasterMaster of Public Administratio

Discovery of 90 Type Ia supernovae among 700,000 Sloan spectra: the Type-Ia supernova rate versus galaxy mass and star-formation rate at redshift ~0.1

Using a method to discover and classify supernovae (SNe) in galaxy spectra, we find 90 Type Ia SNe (SNe Ia) and 10 Type II SNe among the ~700,000 galaxy spectra in the Sloan Digital Sky Survey Data Release 7 that have VESPA-derived star-formation histories (SFHs). We use the SN Ia sample to measure SN Ia rates per unit stellar mass. We confirm, at the median redshift of the sample, z = 0.1, the inverse dependence on galaxy mass of the SN Ia rate per unit mass, previously reported by Li et al. (2011b) for a local sample. We further confirm, following Kistler et al. (2011), that this relation can be explained by the combination of galaxy "downsizing" and a power-law delay-time distribution (DTD; the distribution of times that elapse between a hypothetical burst of star formation and the subsequent SN Ia explosions) with an index of -1, inherent to the double-degenerate progenitor scenario. We use the method of Maoz et al. (2011) to recover the DTD by comparing the number of SNe Ia hosted by each galaxy in our sample with the VESPA-derived SFH of the stellar population within the spectral aperture. In this galaxy sample, which is dominated by old and massive galaxies, we recover a "delayed" component to the DTD of 4.5 +/- 0.6 (statistical) +0.3 -0.5 (systematic) X 10^-14 SNe Msun^-1 yr^-1 for delays in the range > 2.4 Gyr. The mass-normalized SN Ia rate, averaged over all masses and redshifts in our galaxy sample, is R(Ia,M,z=0.1) = 0.10 +/- 0.01 (statistical) +/- 0.01 (systematic) SNuM, and the volumetric rate is R(Ia,V,z=0.1) = 0.247 +0.029 -0.026 (statistical) +0.016 -0.031 (systematic) X 10^-4 SNe yr^-1 Mpc^-3. This rate is consistent with the rates and rate evolution from other recent SN Ia surveys, which together also indicate a ~t^-1 DTD.Comment: MNRAS accepted. 20 pages, 12 figures, 5 tables. Revised following referee report. A full version of figure 8 can be found at http://www.astro.tau.ac.il/~orgraur/Graur_SDSS_SNe_full.pd

One-time nitrogen fertilization shifts switchgrass soil microbiomes within a context of larger spatial and temporal variation

Soil microbiome responses to short-term nitrogen (N) inputs remain uncertain when compared with previous research that has focused on long-term fertilization responses. Here, we examined soil bacterial/archaeal and fungal communities pre- and post-N fertilization in an 8 year-old switchgrass field, in which twenty-four plots received N fertilization at three levels (0, 100, and 200 kg N ha-1 as NH4NO3) for the first time since planting. Soils were collected at two depths, 0–5 and 5–15 cm, for DNA extraction and amplicon sequencing of 16S rRNA genes and ITS regions for assessment of microbial community composition. Baseline assessments prior to fertilization revealed no significant pre-existing divergence in either bacterial/archaeal or fungal communities across plots. The one-time N fertilizations increased switchgrass yields and tissue N content, and the added N was nearly completely removed from the soil of fertilized plots by the end of the growing season. Both bacterial/archaeal and fungal communities showed large spatial (by depth) and temporal variation (by season) within each plot, accounting for 17 and 12–22% of the variation as calculated from the Sq. root of PERMANOVA tests for bacterial/archaeal and fungal community composition, respectively. While N fertilization effects accounted for only ~4% of overall variation, some specific microbial groups, including the bacterial genus Pseudonocardia and the fungal genus Archaeorhizomyces, were notably repressed by fertilization at 200 kg N ha-1. Bacterial groups varied with both depth in the soil profile and time of sampling, while temporal variability shaped the fungal community more significantly than vertical heterogeneity in the soil. These results suggest that short-term effects of N fertilization are significant but subtle, and other sources of variation will need to be carefully accounted for study designs including multiple intra-annual sampling dates, rather than one-time “snapshot” analyses that are common in the literature. Continued analyses of these trends over time with fertilization and management are needed to understand how these effects may persist or change over time

Associations with photoreceptor thickness measures in the UK Biobank.

Spectral-domain OCT (SD-OCT) provides high resolution images enabling identification of individual retinal layers. We included 32,923 participants aged 40-69 years old from UK Biobank. Questionnaires, physical examination, and eye examination including SD-OCT imaging were performed. SD OCT measured photoreceptor layer thickness includes photoreceptor layer thickness: inner nuclear layer-retinal pigment epithelium (INL-RPE) and the specific sublayers of the photoreceptor: inner nuclear layer-external limiting membrane (INL-ELM); external limiting membrane-inner segment outer segment (ELM-ISOS); and inner segment outer segment-retinal pigment epithelium (ISOS-RPE). In multivariate regression models, the total average INL-RPE was observed to be thinner in older aged, females, Black ethnicity, smokers, participants with higher systolic blood pressure, more negative refractive error, lower IOPcc and lower corneal hysteresis. The overall INL-ELM, ELM-ISOS and ISOS-RPE thickness was significantly associated with sex and race. Total average of INL-ELM thickness was additionally associated with age and refractive error, while ELM-ISOS was additionally associated with age, smoking status, SBP and refractive error; and ISOS-RPE was additionally associated with smoking status, IOPcc and corneal hysteresis. Hence, we found novel associations of ethnicity, smoking, systolic blood pressure, refraction, IOPcc and corneal hysteresis with photoreceptor thickness

Operation Moonshot: rapid translation of a SARS-CoV-2 targeted peptide immunoaffinity liquid chromatography-tandem mass spectrometry test from research into routine clinical use

OBJECTIVES: During 2020, the UK's Department of Health and Social Care (DHSC) established the Moonshot programme to fund various diagnostic approaches for the detection of SARS-CoV-2, the pathogen behind the COVID-19 pandemic. Mass spectrometry was one of the technologies proposed to increase testing capacity. METHODS: Moonshot funded a multi-phase development programme, bringing together experts from academia, industry and the NHS to develop a state-of-the-art targeted protein assay utilising enrichment and liquid chromatography tandem mass spectrometry (LC-MS/MS) to capture and detect low levels of tryptic peptides derived from SARS-CoV-2 virus. The assay relies on detection of target peptides, ADETQALPQRK (ADE) and AYNVTQAFGR (AYN), derived from the nucleocapsid protein of SARS-CoV-2, measurement of which allowed the specific, sensitive, and robust detection of the virus from nasopharyngeal (NP) swabs. The diagnostic sensitivity and specificity of LC-MS/MS was compared with reverse transcription quantitative real-time polymerase chain reaction (RT-qPCR) via a prospective study. RESULTS: Analysis of NP swabs (n=361) with a median RT-qPCR quantification cycle (Cq) of 27 (range 16.7-39.1) demonstrated diagnostic sensitivity of 92.4% (87.4-95.5), specificity of 97.4% (94.0-98.9) and near total concordance with RT-qPCR (Cohen's Kappa 0.90). Excluding Cq>32 samples, sensitivity was 97.9% (94.1-99.3), specificity 97.4% (94.0-98.9) and Cohen's Kappa 0.95. CONCLUSIONS: This unique collaboration between academia, industry and the NHS enabled development, translation, and validation of a SARS-CoV-2 method in NP swabs to be achieved in 5 months. This pilot provides a model and pipeline for future accelerated development and implementation of LC-MS/MS protein/peptide assays into the routine clinical laboratory