Whole exome sequencing and polygenic assessment of a Swedish cohort with severe developmental language disorder.

Developmental language disorder (DLD) overlaps clinically, genetically, and pathologically with other neurodevelopmental disorders (NDD), corroborating the concept of the NDD continuum. There is a lack of studies to understand the whole genetic spectrum in individuals with DLD. Previously, we recruited 61 probands with severe DLD from 59 families and examined 59 of them and their families using microarray genotyping with a 6.8% diagnostic yield. Herein, we investigated 53 of those probands using whole exome sequencing (WES). Additionally, we used polygenic risk scores (PRS) to understand the within family enrichment of neurodevelopmental difficulties and examine the associations between the results of language-related tests in the probands and language-related PRS. We identified clinically significant variants in four probands, resulting in a 7.5% (4/53) molecular diagnostic yield. Those variants were in PAK2, MED13, PLCB4, and TNRC6B. We also prioritized additional variants for future studies for their role in DLD, including high-impact variants in PARD3 and DIP2C. PRS did not explain the aggregation of neurodevelopmental difficulties in these families. We did not detect significant associations between the language-related tests and language-related PRS. Our results support using WES as the first-tier genetic test for DLD as it can identify monogenic DLD forms. Large-scale sequencing studies for DLD are needed to identify new genes and investigate the polygenic contribution to the condition.

Validation of a new assessment of hostile attribution bias in romantic relationships: The Hostile Attributions in Romantic Relationships Test.

While hostile attributional bias (a tendency to interpret others' behaviors as intentionally hostile) is associated with negative outcomes in romantic relationships, no measure has been developed specifically for this context. Here, we describe the development and validation of a self-report questionnaire across three studies, named Hostile Attribution in Romantic Relationships Test. Study 1 introduces the development and preliminary validation (N = 152). Study 2 tests the validity and test-retest stability of the modified version revised based on findings in Study 1 (N = 151). Study 3 reports the translation and validation of a Chinese version (N = 630). The final 9-vignette scale is the first to specifically measure hostile attribution bias in romantic relationships, with good internal reliability, test-retest stability, and convergent validity. Factor analysis reveals a three-factor structure reflecting direct hostile attribution, indirect hostile attribution, and benign attribution to partners' behaviors. Implications regarding couple dynamics and clinical therapeutic interventions are discussed.

Epidemiological features and temporal trends of HIV-negative tuberculosis burden from 1990 to 2019: a retrospective analysis based on the Global Burden of Disease Study 2019.

OBJECTIVE: This study aimed to analyse the burden and temporal trends of tuberculosis (TB) incidence and mortality globally, as well as the association between mortality-to-incidence ratio (MIR) and Socio-Demographic Index (SDI). DESIGN: A retrospective analysis of TB data from 1990 to 2019 was conducted using the Global Burden of Disease Study database. RESULTS: Between 1990 and 2019, there was a declining trend in the global incidence and mortality of TB. High SDI regions experienced a higher declining rate than in low SDI regions during the same period. Nearly half of the new patients occurred in South Asia. In addition, there is a sex-age imbalance in the overall burden of TB, with young males having higher incidence and mortality than females. In terms of the three subtypes of TB, drug-sensitive (DS)-TB accounted for more than 90% of the incidents and deaths and experienced a decline over the past 30 years. However, drug-resistant TB (multidrug-resistant (MDR)-TB and extensively drug-resistant (XDR)-TB) showed an overall increasing trend in age-standardised incidence rates and age-standardised mortality rates, with an inflection point after the year 2000. At the regional level, South Asia and Eastern Europe remained a high burden of drug-resistant TB incidence and mortality. Interestingly, a negative correlation was found between the MIR and SDI for TB, including DS-TB, MDR-TB and XDR-TB. Notably, central sub-Saharan Africa had the highest MIR, which indicated a higher-than-expected burden given its level of sociodemographic development. CONCLUSION: This study provides comprehensive insights into the global burden and temporal trends of TB incidence and mortality, as well as the relationship between MIR and SDI. These findings contribute to our understanding of TB epidemiology and can inform public health strategies for prevention and management.

Global distribution and ecological risk assessment of synthetic musks in the environment.

Synthetic musks, as an alternative product of natural musks, are widely used in almost all fragrances of consumer products, such as perfumes, cosmetics and detergents. During the past few decades, the production of synthetic musks has been increasing year by year, subsequently followed by large concern about their adverse effects on ecosystems and human beings. Until now, several studies have reviewed the latest development of analytical methods of synthetic musks in biological samples and cosmetics products, while there is still lack of a systematic analysis of their global distribution in different environmental media. Thus, this review summarizes the occurrence of synthetic musks in the environment including biota around the world and explores their global distribution patterns. The results show that galaxolide (HHCB), tonalide (AHTN), musk xylene (MX) and musk ketone (MK) are generally the most frequently detected synthetic musks in different samples with HHCB and AHTN being predominant. Higher concentrations of HHCB and AHTN are normally found in western countries compared to Asian countries, indicating more consumptions of these musks in western countries. The persistence, bioaccumulation and toxicity (PBT) of synthetic musks (mainly for polycyclic musks and nitro musks) are also discussed. The risk quotients (RQs) of HHCB, AHTN, MX and MK in most waters and sediments are below 0.1, reflecting a low risk to aqueous and sediment-dwelling species. In some sites, e.g., close to STPs, high risks (RQs>1) are characterized. Currently, limited data are available for macrocyclic musks and alicyclic musks in terms of either occurrence or PBT properties. More studies with an expanded scope of chemical type, geographical distribution and (synergic) toxicological effects especially from a long-term point of view are needed.

Lifestyles and health-related quality of life in Chinese people: a national family study.

BACKGROUND: There were few studies that investigated health-related quality of life (HRQoL) of the general population in China, and many of them reported limitations in sampling. OBJECTIVE: To investigate the relationship between lifestyles and HRQoL in the Chinese population in both individual and family levels. METHOD: Online questionnaires were distributed across China to collect demographic information and participants' HRQoL using EuroQoL 5 Dimension scales. The EuroQoL Group's 5 Dimension scale (EQ-5D) index and EuroQoL Group's visual analog scale (EQ VAS) score were calculated to evaluate the HRQoL. RESULTS: A total of 1305 valid questionnaires were included. Higher HRQoL was found in people with intend to lower oil intake, intend to lower salt intake, intend to lower sugar intake, balanced diet, moderate sports every week, a sport hobby and joining a fitness organization (all p<.05). HRQoL was higher among male (female as reference), healthy weight (unhealthy weight as reference) (both p<.05). Negative correlation was found between HRQoL and clinical medical history and drinking history. Small families (1-2 persons, 83.19 ± 20.14) had poorer HRQoL (EQ VAS score) than big families (≥3 persons, 85.00 ± 17.96, p <.05). CONCLUSION: In China, people with healthy dietary habits, regular sports habits, healthy weight and male groups tended to have better HRQoL. Clinical medical history and drinking history were negatively related to HRQoL. Small families tend to have poorer HRQoL than big families. The finding implicated influence of the number of family members on people's perception of health and provided scientific evidence for the current policies to encourage birth in China. For a better HRQoL, we suggest people live in big families and take measures to lower salt/sugar/oil intake and exercise regularly in daily life.

Global burden of asthma associated with high body mass index from 1990 to 2019.

BACKGROUND: High body mass index (BMI) plays a key role in the progression of asthma and asthma related to high BMI resulted in a high burden of disease globally. OBJECTIVE: To explore the geographic and temporal trends in the global burden of asthma associated with high BMI from 1990 to 2019. METHODS: This is a retrospective analysis with data based on the Global Burden of Disease Study 2019 database. Deaths, disability-adjusted life-years (DALYs), age-standardized mortality rate (ASMR), and age-standardized DALY rate (ASDR) were estimated according to sex, age, and sociodemographic index levels. The estimated annual percentage change was used to evaluate the variation trends of ASMR and ASDR from 1990 to 2019. RESULTS: In 2019, the number of global asthma deaths and DALYs related to high BMI increased by 69.69% and 63.91%, respectively, compared with 1990, among which more deaths and DALYs occurred in women. The corresponding ASMR and ASDR exhibited a slightly decreasing tendency globally. South Asia accounted for the highest number of deaths and DALYs, with India ranking first worldwide in 2019. The number of deaths and DALYs were mainly seen in individuals 60 to 79 years old and 55 to 69 years old, respectively, from 1990 to 2019. The heaviest burden existed in the low-middle sociodemographic index region. CONCLUSION: The global asthma burden associated with obesity increased in absolute value but the standardized burden decreased slightly. Large variations existed in the high BMI-related asthma burdens among sexes, ages, and regions.

Does Overseas Investment Raise Corporate Environmental Protection? Evidence from Chinese A-List Companies.

This paper uses the relevant data of China's listed companies from 2010 to 2018 to test the impact of overseas investment on corporate environmental protection and further examines whether the heterogeneity of the company and the heterogeneity of the host country changes this effect. The research results show that the environmental protection of overseas investment companies is significantly higher than that of other companies. The impact of overseas investment on corporate environmental protection is dynamic, and it only helps improve corporate environmental protection after three years of investment. This article is conducive to causally identifying the logical relationship between overseas investment and corporate environmental protection. The policy significance is that the government can rationally guide companies to invest abroad, and oversea investment will help enhance corporate environmental protection.

Sustainable Development of African Countries: Minding Public Life, Education, and Welfare.

Sustainable development (SD) has increasingly played a key background role in government policymaking across the world, especially for the least developed countries in Africa. Therefore, the purpose of our research is to study the SD of African countries in public life, education, and welfare, and then to help policy makers better monitor the status of sustainable development and formulate development policies in these aspects. We firstly propose a new method to assess the SD in public life, education, and welfare. Then we assess the SD status in 51 African countries as well as other countries in the world. After that, we also make a comparison between African countries and the countries in other continents.

Assessment of Bidirectional Relationships Between Polycystic Ovary Syndrome and Periodontitis: Insights From a Mendelian Randomization Analysis.

BACKGROUND: Observational studies have indicated an association between polycystic ovary syndrome (PCOS) and periodontitis, but it is unclear whether the association is cofounded or causal. We conducted a two-sample Mendelian randomization (MR) study to investigate the bidirectional relationship between genetically predicted PCOS and periodontitis. METHODS: From two genome-wide association studies we selected 13 and 7 single nucleotide polymorphisms associated with PCOS and periodontitis, respectively, as instrumental variables. We utilized publicly shared summary-level statistics from European-ancestry cohorts. To explore the causal effect of PCOS on periodontitis, 12,289 cases of periodontitis and 22,326 controls were incorporated, while 4,890 cases of PCOS and 20,405 controls in the reverse MR. Inverse-variance weighted method was employed in the primary MR analysis and multiple sensitivity analyses were implemented. RESULTS: Genetically determined PCOS was not causally associated with risk of periodontitis (odds ratio 0.97; 95% confidence interval 0.88-1.06; P = 0.50) per one-unit increase in the log-odds ratio of periodontitis. Similarly, no causal effect of periodontitis on PCOS was shown with the odds ratio for PCOS was 1.17 (95% confidence interval 0.91-1.49; P = 0.21) per one-unit increase in the log-odds ratio of periodontitis. Consistent results were yielded via additional MR methods. Sensitivity analyses demonstrated no presence of horizontal pleiotropy or heterogeneity. CONCLUSION: The bidirectional MR study couldn't provide convincing evidence for the causal relationship between genetic liability to PCOS and periodontitis in the Europeans. Triangulating evidence across further observational and genetic-epidemiological studies is necessary.

Assessment of causal effects of physical activity on neurodegenerative diseases: A Mendelian randomization study.

BACKGROUND: Physical activity has been hypothesized to play a protective role in neurodegenerative diseases. However, effect estimates previously derived from observational studies were prone to confounding or reverse causation. METHODS: We performed a two-sample Mendelian randomization (MR) analysis to explore the causal association of accelerometer-measured physical activity with 3 common neurodegenerative diseases: Alzheimer's disease (AD), Parkinson's disease (PD), and amyotrophic lateral sclerosis (ALS). We selected genetic instrumental variants reaching genome-wide significance (p < 5 × 10-8) from 2 largest meta-analyses of about 91,100 UK Biobank participants. Summary statistics for AD, PD, and ALS were retrieved from the up-to-date studies in European ancestry led by the international consortia. The random-effect, inverse-variance weighted MR was employed as the primary method, while MR pleiotropy residual sum and outlier (MR-PRESSO), weighted median, and MR-Egger were implemented as sensitivity tests. All statistical analyses were performed using the R programming language (Version 3.6.1; R Foundation for Statistical Computing, Vienna, Austria). RESULTS: Primary MR analysis and replication analysis utilized 5 and 8 instrumental variables, which explained 0.2% and 0.4% variance in physical activity, respectively. In each set, one variant at 17q21 was significantly associated with PD, and MR sensitivity analyses indicated them it as an outlier and source of heterogeneity and pleiotropy. Primary results with the removal of outlier variants suggested odds ratios (ORs) of neurodegenerative diseases per unit increase in objectively measured physical activity were 1.52 for AD (95% confidence interval (95%CI): 0.88-2.63, p = 0.13) and 3.35 for PD (95%CI: 1.32-8.48, p = 0.01), while inconsistent results were shown in the replication set for AD (OR = 1.06, 95%CI: 1.01-1.12, p = 0.02) and PD (OR = 0.99, 95%CI: 0.88-0.12, p = 0.97). Similarly, the beneficial effect of physical activity on ALS (OR = 0.51, 95%CI: 0.29-0.91, p = 0.02) was not confirmed in the replication analysis (OR = 0.96, 95%CI: 0.91-1.02, p = 0.22). CONCLUSION: Genetically predicted physical activity was not robustly associated with risk of neurodegenerative disorders. Triangulating evidence across other studies is necessary in order to elucidate whether enhancing physical activity is an effective approach in preventing the onset of AD, PD, or ALS.

Social capital, policy fairness, and subjective life satisfaction of earthquake survivors in Wenchuan, China: a longitudinal study based on post-earthquake survey data.

BACKGROUND: Existing research has rarely examined an earthquake's sustained impact and the trajectory of the earthquake survivors' life satisfaction over time. This study aims to analyze longitudinal changes in life satisfaction of Wenchuan earthquake survivors and the impact of social capital and government relief policy. METHODS: This research applied a hierarchical linear model to longitudinal survey data collected after the earthquake. The survey was divided into three waves and was collected from Deyang City and Mianyang City of Sichuan Province. A random sampling method was used; a sample of 225 participants had valid responses over three waves of the survey. RESULTS: This study found that a survivor's social capital and the perception of the fairness of government relief policy have a significant effect on the trajectory of life satisfaction post-disaster. First, the initial life satisfaction of those with high social capital was significantly higher than of those with low social capital, whilst survivors with high social capital had a lower rate of change in life satisfaction. Second, one year after the earthquake, those who felt government policy was unfair had a lower life satisfaction than those who felt it was fair. However, from the first year to the fourth year after the disaster, survivors who believed that the government policy was unfair experienced a higher rate of change in life satisfaction than those who did not. Third, the fairness of government relief policy moderates the relationship between survivors' social capital and changes in life satisfaction. A fair policy of relief can reduce the negative impact of the lack of individual social capital on life satisfaction. CONCLUSIONS: Survivors reconstruct life satisfaction through their social network and the perception of the fairness of the government's post-disaster relief policy. Therefore, to promote the improvement of life satisfaction of survivors, it is necessary to cultivate social capital and ensure fairness of the relief policy.

Facile biosensors for rapid detection of COVID-19.

Currently the world is being challenged by a public health emergency caused by the coronavirus pandemic (COVID-19). Extensive efforts in testing for coronavirus infection, combined with isolating infected cases and quarantining those in contact, have proven successful in bringing the epidemic under control. Rapid and facile screening of this disease is in high demand. This review summarises recent advances in strategies reported by international researchers and engineers concerning how to tackle COVID-19 via rapid testing, mainly through nucleic acid- and antibody- testing. The roles of biosensors as powerful analytical tools are emphasized for the detection of viral RNAs, surface antigens, whole viral particles, antibodies and other potential biomarkers in human specimen. We critically review in depth newly developed biosensing methods especially for in-field and point-of-care detection of SARS-CoV-2. Additionally, this review describes possible future strategies for virus rapid detection. It helps researchers working on novel sensor technologies to tailor their technologies in a way to address the challenge for effective detection of COVID-19.

Reactor performance and economic evaluation of anaerobic co-digestion of dairy manure with corn stover and tomato residues under liquid, hemi-solid, and solid state conditions.

Anaerobic co-digestion of tomato residues, dairy manure, and corn stover at ratios of 20:48:32, 40:36:24, and 60:24:16 (volatile solid basis) were compared for liquid anaerobic digestion (L-AD), hemi-solid state AD (HSS-AD), and solid state AD (SS-AD) systems. The highest methane yield (353.5 L/kg-VSadded) and volumetric methane productivity (24.5 m3methane/m3reactor volume) were both obtained with 20% tomato residues addition under L-AD and HSS-AD conditions, respectively. Total solid and feedstock mixing ratio affected the degradation of protein and lipids during AD, but not cellulose and hemicellulose. Economic analysis results indicated that capital and labor costs have the dominant effect on total investment. SS-AD of tomato residues, dairy manure, and corn stover at ratios of 20:48:32 (VS basis) has the highest net present value (2.6 million US$) and shortest payback period (10.1 year), which indicated SS-AD was financially attractive under analysis conditions.

Can we increase organ donation by reducing the disincentives? An experimental analysis.

Our research utilizes the experimental economics laboratory to investigate the impact that reducing disincentives has on organ donation. The experiment consists of four treatments across different levels of donation related costs, which reflect the disincentives associated with being an organ donor. Our experimental results indicate that sizable increases in the organ donation rate are achievable if we reduce the level of disincentives present. The largest observed donation rates arise when a financial return is offered for being an organ donor, which is prohibited under the National Organ Transplant Act (NOTA), but nearly 80% of the gains observed under the positive financial incentives can be achieved if all of the disincentives are eliminated.