Genetic landscape of autism spectrum disorder in Vietnamese children

Autism spectrum disorder (ASD) is a complex disorder with an unclear aetiology and an estimated global prevalence of 1%. However, studies of ASD in the Vietnamese population are limited. Here, we first conducted whole exome sequencing (WES) of 100 children with ASD and their unaffected parents. Our stringent analysis pipeline was able to detect 18 unique variants (8 de novo and 10 ×-linked, all validated), including 12 newly discovered variants. Interestingly, a notable number of X-linked variants were detected (56%), and all of them were found in affected males but not in affected females. We uncovered 17 genes from our ASD cohort in which CHD8, DYRK1A, GRIN2B, SCN2A, OFD1 and MDB5 have been previously identified as ASD risk genes, suggesting the universal aetiology of ASD for these genes. In addition, we identified six genes that have not been previously reported in any autism database: CHM, ENPP1, IGF1, LAS1L, SYP and TBX22. Gene ontology and phenotype-genotype analysis suggested that variants in IGF1, SYP and LAS1L could plausibly confer risk for ASD. Taken together, this study adds to the genetic heterogeneity of ASD and is the first report elucidating the genetic landscape of ASD in Vietnamese children

UV-Vis spectrophotometry and chemometrics as tools for recognition of the biochemical profiles of organic banana peels (Musa sp.) according to the seasonality in southern Brazil

Banana (Musa sp.) has received wide interest in popular and scientific medicine because of its rich composition in bioactive metabolites, e.g., phenolic compounds, found in interesting concentrations in its peel. Banana peel is a residue that is under-exploited by the industry. Thus, with the intention to give a destination to this by-product towards health care or cosmetics industries, we evaluated its aqueous extract (AE) as a source of bioactive phenolic compounds, aiming at to apply them in future studies of biological activities. For that, in this study samples of banana peels were chemically profiled throughout the year to identify the best harvest time of those biomasses regarding their phenolic composition. In this sense, we used additional information on the chemical heterogeneity of the samples determined by the seasoning, through a set of analytical and climatic data to elaborate chemometric models, supported by bioinformatics tools. Through PCA and HCA analyzes, it was detected that low temperatures; normally observed in winter; strongly modulate the banana metabolism, leading to increased amounts of phenolic compounds, and improving the antioxidant activity of the banana peel AE. The samples collected during the months of winter showed a similar profile and a relatively high concentration of phenolic compounds with potential for future studies of biological activities.CAPES -Coordenação de Aperfeiçoamento de Pessoal de Nível Superior(407323/2013-9)info:eu-repo/semantics/publishedVersio

Performance Analysis of Protograph LDPC Codes over Large-Scale MIMO Channels with Low-Resolution ADCs

© 2013 IEEE. Protograph LDPC (P-LDPC) codes and large-scale multiple-input multiple-output (LS-MIMO) are cornerstones of 5G and future wireless systems, thanks to their powerful error-correcting capability and high spectral efficiency. To alleviate the high complexity in signal detection/decoding that dramatically grows with the number of antennas (in the order of tens or even hundreds), low-resolution analog-to-digital converters (ADCs) and joint detection and decoding using factor graph have recently attracted paramount interest. Unlike high-resolution ADCs, by using a small number of bits to quantize the received signal, low-resolution ADCs help reduce the hardware cost and power consumption of the RF circuit of practical LS-MIMO transceivers. Such a very much desirable reduction comes at the cost of additional quantization noise, introduced by low-resolution ADCs. This work aims to provide a unified framework to analyze the impact of the low-resolution ADCs on the performance of P-LDPC codes in practical LS-MIMO systems. It is worth noting that the previous analytical tools that have been used to evaluate the performance of P-LDPC codes do not account for the quantization noise effect of the low-resolution ADCs and the fact that the covariance of quantization noise depends on the fading channels. This article addresses this shortcoming by first leveraging the additive quantization noise model. We then derive the expression of extrinsic information for the belief-propagation LS-MIMO detector. The mutual information functions, which are the core elements of our proposed protograph extrinsic information transfer (PEXIT) algorithm, are analyzed for LS-MIMO communication systems. Our proposed PEXIT algorithm allows us to analyze and predict the impact of the low-resolution ADCs on the performance of P-LDPC codes, considering various input parameters, including the LS-MIMO configuration, the code rate, and the maximum number of decoding iterations, and the code structure. Based on our extensive analytical and simulation results, we found that the performance of 3-bit and 4-bit ADC systems only have a small gap to that of the unquantized systems. Especially when the 5-bit ADC scheme is applied, the performance loss is negligible. This finding sheds light on the practical design of LS-MIMO systems using P-LDPC codes

Pneumococcal carriage in sub-Saharan Africa--a systematic review.

BACKGROUND: Pneumococcal epidemiology varies geographically and few data are available from the African continent. We assess pneumococcal carriage from studies conducted in sub-Saharan Africa (sSA) before and after the pneumococcal conjugate vaccine (PCV) era. METHODS: A search for pneumococcal carriage studies published before 2012 was conducted to describe carriage in sSA. The review also describes pneumococcal serotypes and assesses the impact of vaccination on carriage in this region. RESULTS: Fifty-seven studies were included in this review with the majority (40.3%) from South Africa. There was considerable variability in the prevalence of carriage between studies (I-squared statistic = 99%). Carriage was higher in children and decreased with increasing age, 63.2% (95% CI: 55.6-70.8) in children less than 5 years, 42.6% (95% CI: 29.9-55.4) in children 5-15 years and 28.0% (95% CI: 19.0-37.0) in adults older than 15 years. There was no difference in the prevalence of carriage between males and females in 9/11 studies. Serotypes 19F, 6B, 6A, 14 and 23F were the five most common isolates. A meta-analysis of four randomized trials of PCV vaccination in children aged 9-24 months showed that carriage of vaccine type (VT) serotypes decreased with PCV vaccination; however, overall carriage remained the same because of a concomitant increase in non-vaccine type (NVT) serotypes. CONCLUSION: Pneumococcal carriage is generally high in the African continent, particularly in young children. The five most common serotypes in sSA are among the top seven serotypes that cause invasive pneumococcal disease in children globally. These serotypes are covered by the two PCVs recommended for routine childhood immunization by the WHO. The distribution of serotypes found in the nasopharynx is altered by PCV vaccination

Cr(VI) Removal from Aqueous Solution Using a Magnetite Snail Shell

© 2020, Springer Nature Switzerland AG. In this study, magnetic snail shell (MSS) prepared by impregnating of iron oxide onto snail shell (SS) powder was used for removing Cr(VI) from aqueous solution. Among six different mass ratios of Fe/SS powder studied, the MSS25 produced at a ratio of 25% achieved the highest Cr(VI) adsorption capacity. Batch adsorption experiments were conducted to investigate the adsorption isotherm, kinetics, and mechanism of Cr(VI) onto MSS25. The results illustrated that adsorption of Cr(VI) onto MSS25 reached equilibrium after 150 min at pH 3. The adsorption kinetics could be well described by the pseudo-second order model (R2 = 0.986). The Langmuir model (R2 = 0.971) was the best-fitting model that described the adsorption isotherm of Cr(VI) onto MSS25. The maximum adsorption capacity was 46.08 mg Cr(VI) per gram of MSS25. Ion exchange, electrostatic attraction, and adsorption-coupled reduction were determined as the main adsorption mechanisms of Cr(VI) onto MSS25. The high percentages of CaCO3 and Fe3O4 found in the MSS25 structure made a significant contribution to the Cr(VI) adsorption process

Impact of Seawater Temperature on Coral Reefs in the Context of Climate Change. A Case Study of Cu Lao Cham – Hoi An Biosphere Reserve

Coral reefs are a natural habitat for many species, as well as being of high economic and touristic significance. However, they represent an extremely sensitive ecosystem with a narrow ecological limit: prolonged high temperatures can lead to bleaching, in which corals expel their symbiotic algae and eventually corals will degrade and die. Based on climate change projections from the Blue Communities regional model, using linear regression, exponential regression, polynomial regression, we found that by the decades 2041–2050 and 2051–2060, whether with RCP 4.5 or RCP 8.5, the environmental temperature will change beyond the coral capacity threshold. Of particular concern is RCP 8.5, where the number of weeks per decade in which SST exceeds the threshold of coral reef bleaching is up to 55, compared to 0 at the beginning of the century. As well, the El Niño phenomenon often heats up waters to abnormally high temperatures in Cu Lao Cham and, it is projected to rise even further. Consequently, the combination of climate change and El Niño will cause abnormal increases in the seawater environment beyond the coral resistance threshold, leading to degradation of this internationally important site. Decisive and practical action must be taken to deal with climate change in this part of the world

A Hybrid Neural Network for Graph-Based Human Pose Estimation from 2D Images

© 2013 IEEE. This paper investigates the problem of human pose estimation (HPE) from single 2-dimensional (2D) still images using a convolutional neural network (CNN). The aim was to train the CNN to analyze a 2D input image of a person to determine the person's pose. The CNN output was given in the form of a tree-structured graph of interconnected nodes representing 2D image coordinates of the person's body joints. A new data-driven tree-based model for HPE was validated and compared to the traditional anatomy-based tree-based structures. The effect of the number of nodes in anatomy-based tree-based structures on the accuracy of HPE was examined. The tree-based techniques were compared with non-tree-based methods using a common HPE framework and a benchmark dataset. As a result of this investigation, a new hybrid two-stage approach to the HPE estimation was proposed. In the first stage, a non-tree-based network was used to generate approximate results that were then passed for further refinement to the second, tree-based stage. Experimental results showed that both of the proposed methods, the data-driven tree-based model (TD_26) and the hybrid model (H_26_2B) lead to very similar results, obtaining 1% higher HPE accuracy compared to the benchmark anatomy-based model (TA_26) and 3% higher accuracy compared to the non-tree-based benchmark (NT_26_A). The best overall HPE results were obtained using the anatomy-based benchmark with the number of nodes increased from 26 to 50, which also significantly increased the computational cost

Upholding integrity: The influence of executives’ backgrounds on corporate information environment

Motivated by the roles of corporate management in shaping corporate decisions and the importance of stock liquidity in financial markets, we examine whether trust in management influences the liquidity costs of the firm that they manage. Using manually collected propriety data from several datasets, this study documents that firms led by ex-military CEOs are associated with higher stock market liquidity than firms run by non-military CEOs. Military CEOs influence stock liquidity by improving their firms’ information environment and reducing performance volatility. Firms led by military CEOs have higher social capital, higher levels of voluntary disclosure, fewer stock price delays, and lower levels of informed trading. In addition, firms run by military CEOs have lower costs of capital and default risk. Overall, consistent with behavioral consistency theory, our findings highlight the importance of executives’ early-life experience in reducing information frictions, fostering trust, and improving secondary market quality. “I think of all the time I spent in the military and in law enforcement and the many times I saw someone do the right thing because it was the right thing to do. The essence of integrity is what you do in and of yourself — you must be true to yourself.” ---Patrick O'Toole, Director & Executive Vice President, HealthMarkets Insurance Agency.fals

Aerobic co-composting degradation of highly PCDD/F-contaminated field soil. A study of bacterial community

© 2018 Elsevier B.V. This study investigated bacterial communities during aerobic food waste co-composting degradation of highly PCDD/F-contaminated field soil. The total initial toxic equivalent quantity (TEQ) of the soil was 16,004 ng-TEQ kg −1 dry weight. After 42-day composting and bioactivity-enhanced monitored natural attenuation (MNA), the final compost product's TEQ reduced to 1916 ng-TEQ kg −1 dry weight (approximately 75% degradation) with a degradation rate of 136.33 ng-TEQ kg −1 day −1 . Variations in bacterial communities and PCDD/F degraders were identified by next-generation sequencing (NGS). Thermophilic conditions of the co-composting process resulted in fewer observed bacteria and PCDD/F concentrations. Numerous organic compound degraders were identified by NGS, supporting the conclusion that PCDD/Fs were degraded during food waste co-composting. Bacterial communities of the composting process were defined by four phyla (Proteobacteria, Actinobacteria, Bacteroidetes and Firmicutes). At the genus level, Bacillus (Firmicutes) emerged as the most dominant phylotype. Further studies on specific roles of these bacterial strains are needed, especially for the thermophiles which contributed to the high degradation rate of the co-co-composting treatment's first 14 days

Visual impairment is associated with physical and mental comorbidities in older adults:a cross-sectional study

Background<p></p> Visual impairment is common in older people and the presence of additional health conditions can compromise health and rehabilitation outcomes. A small number of studies have suggested that comorbities are common in visual impairment; however, those studies have relied on self-report and have assessed a relatively limited number of comorbid conditions.<p></p> Methods<p></p> We conducted a cross-sectional analysis of a dataset of 291,169 registered patients (65-years-old and over) within 314 primary care practices in Scotland, UK. Visual impairment was identified using Read Code ever recorded for blindness and/or low vision (within electronic medical records). Prevalence, odds ratios (from prevalence rates standardised by stratifying individuals by age groups (65 to 69 years; 70 to 74; 75 to 79; 80 to 84; and 85 and over), gender and deprivation quintiles) and 95% confidence intervals (95% CI) of 37 individual chronic physical/mental health conditions and total number of conditions were calculated and compared for those with visual impairment to those without.<p></p> Results<p></p> Twenty seven of the 29 physical health conditions and all eight mental health conditions were significantly more likely to be recorded for individuals with visual impairment compared to individuals without visual impairment, after standardising for age, gender and social deprivation. Individuals with visual impairment were also significantly more likely to have more comorbidities (for example, five or more conditions (odds ratio (OR) 2.05 95% CI 1.94 to 2.18)).<p></p> Conclusions<p></p> Patients aged 65 years and older with visual impairment have a broad range of physical and mental health comorbidities compared to those of the same age without visual impairment, and are more likely to have multiple comorbidities. This has important implications for clinical practice and for the future design of integrated services to meet the complex needs of patients with visual impairment, for example, embedding depression and hearing screening within eye care services