Identification of compound heterozygous variants in the noncoding RNU4ATAC gene in a Chinese family with two successive foetuses with severe microcephaly

Background: Whole-exome sequencing (WES) over the last few years has been increasingly employed for clinical diagnosis. However, one caveat with its use is that it inevitably fails to detect disease-causative variants that occur within noncoding RNA genes. Our experience in identifying pathogenic variants in the noncoding RNU4ATAC gene, in a Chinese family where two successive foetuses had been affected by severe microcephaly, is a case in point. These foetuses exhibited remarkably similar phenotypes in terms of their microcephaly and brain abnormalities; however, the paucity of other characteristic phenotypic features had made a precise diagnosis impossible. Given that no external causative factors had been reported/identified during the pregnancies, we sought a genetic cause for the phenotype in the proband, the second affected foetus. Results: A search for chromosomal abnormalities and pathogenic copy number variants proved negative. WES was also negative. These initial failures prompted us to consider the potential role of RNU4ATAC, a noncoding gene implicated in microcephalic osteodysplastic primordial dwarfism type-1 (MOPD1), a severe autosomal recessive disease characterised by dwarfism, severe microcephaly and neurological abnormalities. Subsequent targeted sequencing of RNU4ATAC resulted in the identification of compound heterozygous variants, one being the most frequently reported MOPD1-causative mutation (51G>A), whereas the other was a novel 29T>A variant. Four distinct lines of evidence (allele frequency in normal populations, evolutionary conservation of the affected nucleotide, occurrence within a known mutational hotspot for MOPD1-causative variants and predicted effect on RNA secondary structure) allowed us to conclude that 29T>A is a new causative variant for MOPD1. Conclusions: Our findings highlight the limitations of WES in failing to detect variants within noncoding RNA genes and provide support for a role for whole-genome sequencing as a first-tier genetic test in paediatric medicine. Additionally, the identification of a novel RNU4ATAC variant within the mutational hotspot for MOPD1-causative variants further strengthens the critical role of the 5′ stem-loop structure of U4atac in health and disease. Finally, this analysis enabled us to provide prenatal diagnosis and genetic counselling for the mother’s third pregnancy, the first report of its kind in the context of inherited RNU4ATAC variants

Performance Research on Heat Pump Using Blends of R744 with Eco-friendly Working Fluid

In order to protect the environment and save energy, new refrigerants with zero ozone depleting potential, low global warming potential have been investigated by more and more researches to substitute HCFCs/ HFCs for eco-friendly workin

A novel planarization method based on photoinduced confined chemical etching

National Science Foundation of China [91023043, 21021002, 91023006]A photoinduced confined chemical etching system based on TiO2 nanotube arrays is developed for the planarization of the copper surface, which is proved to be a prospective stress-free chemical planarization method for metals and semiconductors

Using 137Cs to study spatial patterns of soil erosion and soil organic carbon (SOC) in an agricultural catchment of the typical black soil region, Northeast China

Understanding the spatial pattern of soil organic carbon (SOC) is of great importance because of global environmental concerns. Soil erosion and its subsequent redistribution contribute significantly to the redistribution of SOC in agricultural ecosystems. This study investigated the relationships between 137Cs and SOC over an agricultural landscape, and SOC redistribution was conducted for an agricultural catchment of the black soil region in Northeast China. The spatial patterns of 137Cs and SOC were greatly affected by the established shelterbelts and the developed ephemeral gullies. 137Cs were significantly correlated with SOC when 137Cs were 2000 Bq m-2, while no relation was observed between them when 137Cs were 2000 Bq m-2. Factors other than soil erosion such as vegetative productivity, mineralization of SOC, landscape position and management induced their spatial difference of 137Cs and SOC. Using 137Cs technique to directly study SOC dynamics must be cautious in the black soils. The net SOC loss rate across the entire catchment during 1954-2010 was 92.8 kg ha-1 yr-1, with around 42% of the eroded SOC being redeposited within the catchment. Such information can help guide shelterbelt establishment or other land management to reduce SOC loss in the agricultural ecosystems. 2012 Elsevier Ltd

Immunomodulatory Effects of Robinia pseudoacacia Polysaccharides on Live Vaccine against Infectious Bronchitis in Immunosuppressive Chickens

In order to investigate the immunomodulatory effect of Robinia pseudoacacia Polysaccharides (RPPS) on vaccine against Infectious Bronchitis (IB) in immunosuppressive chickens, the artificial leukemia chicken model was established and then the IB live vaccine (H120 strain) was immunized. The immunomodulatory efficacy of RPPS was determined by the antibody titer, the lymphocyte transformation rate in peripheral blood, the CD4+ and CD8+ T lymphocyte levels in peripheral blood, and the cytokine levels in the serum. The results showed that RPPS could not only enhance the immune effect of IB live vaccine but also improve the immunity of immunosuppressive chickens. Thus, the function of RPPS immunopotentiator could be further developed

All-Organic Multilayer Coatings for Advanced Poly(lactic acid) Films with High Oxygen Barrier and Excellent Antifogging Properties

Poly(lactic acid) (PLA) has been increasingly employed as a promising packaging material. Unfortunately, PLA film suffers low oxygen barrier and poor antifogging issues, which extremely restrict its practical applications. Despite some progress, to date it remains a challenge to construct a biodegradable, transparent, highly oxygen-barriered and antifogging coating for the PLA film via a facile approach. Here, we report a facile construction of biodegradable and all-organic coating with high transparency via hydrogen-bonded layer-by-layer assembly of poly(vinyl alcohol) (PVA) and tannic acid (TA). With the presence of 20 bilayers of PVA and TA, the oxygen permeability is reduced to 0.52 × 10–16 cm3·cm/[cm2·s·Pa], approximately 450 times lower than that of PLA film. Moreover, fogging issue for PLA film can be effectively addressed only with five bilayers of PVA and TA. These improvements are attributed to the hydrogen-bonding interactions and polyphenol groups within the multilayer coating. This work may provide a facile strategy for the design of biodegradable and highly transparent coating for the high oxygen barrier and antifogging applications by using organic molecules as building blocks

Enrichment characteristics of Potetial risk elements in the black soil region of Northeast China

Heavy metals in topsoil mainly originate from the natural geological background and human activities, and once the soil is contaminated with heavy metals, it is difficult to restore it to its original natural state. Therefore, it is important to assess the level of influence of heavy metals in soil to provide information for agricultural production. To clarify the intensity of anthropogenic impact on the soil environment in the black soils region (BSR), we used the geochemical data of 0–20cm topsoil (anthropogenic impact depth) and 150–180cm subsoil(natural background) to analyze the topsoil heavy metal enrichment coefficient for cadmium, mercury, lead, arsenic, zinc, nickel, copper, chromium, and their spatial distribution characteristics in BSR . The analysis showed that the heavy metal enrichment coefficients of lead, arsenic, zinc, nickel, copper and chromium are basically less than 2.0 in BSR, and there are only localized points with enrichment coefficients of greater than 2.0. Cadmium and mercury are more obviously enriched in the black soils area, and the enrichment areas are mainly distributed south of Harbin. The mercury enrichment area is distributed in a north–eastward strip along Shenyang, Changchun, and Harbin, and the cadmium enrichment areas are mainly distributed south of Changchun, with a continuous distribution to Tieling City. the enrichment of heavy metals in the topsoil is closely related to the population density by comparing spatial distribution patterns of the geological background, topography and land use, and the obvious enrichment areas for heavy metals are located in and around cities, especially in industrial cities and their surrounding areas. The enrichment depth of 40 cm is further evidence that the heavy metals in topsoil mainly originate from human activities

TL-Net: A Novel Network for Transmission Line Scenes Classification

With the development of unmanned aerial vehicle (UAV) control technology, one of the recent trends in this research domain is to utilize UAVs to perform non-contact transmission line inspection. The RGB camera mounted on UAVs collects large numbers of images during the transmission line inspection, but most of them contain no critical components of transmission lines. Hence, it is a momentous task to adopt image classification algorithms to distinguish key images from all aerial images. In this work, we propose a novel classification method to remove redundant data and retain informative images. A novel transmission line scene dataset, namely TLS_dataset, is built to evaluate the classification performance of networks. Then, we propose a novel convolutional neural network (CNN), namely TL-Net, to classify transmission line scenes. In comparison to other typical deep learning networks, TL-Nets gain better classification accuracy and less memory consumption. The experimental results show that TL-Net101 gains 99.68% test accuracy on the TLS_dataset

Cerebrospinal Fluid Biomarkers in Multiple System Atrophy Relative to Parkinson’s Disease: A Meta-Analysis

Objective. To investigate the differences of candidate cerebrospinal fluid (CSF) biomarkers associated with multiple system atrophy (MSA) and Parkinson’s disease (PD). Method. Here, a systematic review and meta-analysis were conducted on studies related to CSF biomarkers associated with MSA and PD obtained from PubMed, Web of Science, Embase, and Cochrane databases. Data were pooled where appropriate and used to calculate standardized mean differences (SMDs) with 95% confidence intervals (CI). Heterogeneity was assessed using the I2 statistic while Egger’s test was used to test for existing publication bias. Results. MSA patients had higher CSF t-tau (SMD=0.41, 95% CI: 0.10 to 0.72) and YKL-40 (SMD=0.63, 95% CI 0.12 to1.15) as well as DJ-1 (SMD=1.05, 95% CI 0.67 to 1.42) levels than PD patients, while CSF p-tau (SMD=−0.17, 95% CI, -0.31 to -0.02) and Aβ-42 (SMD=−0.33, 95% CI, -0.55 to -0.12) levels in MSA patients were lower than those in PD patients. There were no differences in CSF’s GFAP and Flt3 ligand levels in both MSA and PD patients. Conclusion. The study revealed the differences in CSF biomarker levels between MSA and PD cohorts that can be further explored to clinically distinguish MSA from PD