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Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder with heterogeneous and complex genetic underpinnings. Our previous microarray gene expression profiling identified significantly different neuregulin-2 gene (NRG2) expression between ASD patients and controls. Thus, we aimed to clarify whether NRG2 is a candidate gene associated with ASD. The study consisted of two stages. First, we used real-time quantitative PCR in 20 ASDs and 20 controls to confirm the microarray gene expression profiling results. The average NRG2 gene expression level in patients with ASD (3.23 ± 2.80) was significantly lower than that in the controls (9.27 ± 4.78, p < 0.001). Next, we conducted resequencing of all the exons of NRG2 in a sample of 349 individuals with ASD, aiming to identify variants of the NRG2 associated with ASD. We identified three variants, including two single nucleotide variants (SNVs), IVS3 + 13A > G (rs889022) and IVS10 + 32T > A (rs182642591), and one small deletion at exon 11 of NRG2 (delGCCCGG, rs933769137). Using data from the Taiwan Biobank as the controls, we found no significant differences in allele frequencies of rs889022 and rs182642591 between two groups. However, there is a significant difference in the genotype and allele frequency distribution of rs933769137 between ASDs and controls (p < 0.0001). The small deletion is located in the EGF-like domain at the C-terminal of the NRG2 precursor protein. Our findings suggest that NRG2 might be a susceptibility gene for ASD. [ABSTRACT FROM AUTHOR]

To better understand the correlation between molecular structure and optical properties such as aggregation‐induced emission (AIE) and mechanochromic luminescence (MCL) emission, two new pyrene‐based derivatives with substitutions at the 4‐ and 5‐positions (1HH) and at the 4‐, 5‐, 9‐, and 10‐positions (2HH) were designed and synthesized. Cyano groups were introduced at the periphery of the synthesized compounds (1HCN, 1OCN, 1BCN, 2HCN, 2OCN, and 2BCN) to investigate the influence of these groups on the emission properties of the pyrene derivatives both in solution and in the solid state. The fluorescence emission performance of these compounds in water/acetone mixtures was simultaneously studied, revealing outstanding aggregation‐induced emission properties. The typical shift in emission maxima to higher values was attributed to J‐aggregate formation in the aggregate state. Careful investigation of the crystal structures demonstrated abundant and intense intermolecular interactions, such as C−H...π and C−H...N hydrogen bonds, contributing to the remarkable mechanochromic luminescence performance of these compounds. The MCL properties of all the compounds were investigated using powder X‐ray diffraction, and the remarkable mechanochromic properties were attributed to J‐aggregate phenomena in the solid state. These results provide valuable insights into the structure‐property relationship of organic MCL materials, guiding the design of efficient organic MCL materials. [ABSTRACT FROM AUTHOR]

Remote sensing technology significantly contributes to fisheries management and marine ecosystem preservation. The development disparities among countries create gaps that hinder sustainable fisheries and ecosystem protection. Assessing progress and efforts across regions and countries is crucial for sustainable development. Effective measurement methods are used to identify shortcomings, guide academic development, and strengthen partnerships. Tracking and highlighting partnership achievements is challenging due to the difficulties in quantification. The objective of this study is to create indicators for evaluating the community of international academic cooperation. We analyzed and examined the trend in national efforts and international partnerships before and after the Sustainable Development Goals (SDGs) were released in 2015 using bibliometric methods and bibliographic information from the Web of Science (WoS). The results show that tracking the progress and evolution of international collaborations in fisheries remote sensing research can be facilitated by employing quantitative indicators that measure international cooperation among coauthors, institutions, and countries. Additionally, the number of partnerships in each country displays a significant relationship with the country's level of national development. A comparison of indicators developed by actors with different orientations can be used as a strategic reference for developing partnerships among countries. Academic research in developing countries that rely heavily on fisheries plays a critical role in preserving life below water (SDG 14). The achievement of this SDG can be enhanced through global partnerships (SDG 17). [ABSTRACT FROM AUTHOR]

Schizophrenia and affective disorder are two major complex mental disorders with high heritability. Evidence shows that rare variants with significant clinical impacts contribute to the genetic liability of these two disorders. Also, rare variants associated with schizophrenia and affective disorders are highly personalized; each patient may carry different variants. We used whole genome sequencing analysis to study the genetic basis of two families with schizophrenia and major depressive disorder. We did not detect de novo, autosomal dominant, or recessive pathogenic or likely pathogenic variants associated with psychiatric disorders in these two families. Nevertheless, we identified multiple rare inherited variants with unknown significance in the probands. In family 1, with singleton schizophrenia, we detected four rare variants in genes implicated in schizophrenia, including p.Arg1627Trp of LAMA2, p.Pro1338Ser of CSMD1, p.Arg691Gly of TLR4, and Arg182X of AGTR2. The p.Arg691Gly of TLR4 was inherited from the father, while the other three were inherited from the mother. In family 2, with two affected sisters diagnosed with major depressive disorder, we detected three rare variants shared by the two sisters in three genes implicated in affective disorders, including p.Ala4551Gly of FAT1, p.Val231Leu of HOMER3, and p.Ile185Met of GPM6B. These three rare variants were assumed to be inherited from their parents. Prompted by these findings, we suggest that these rare inherited variants may interact with each other and lead to psychiatric conditions in these two families. Our observations support the conclusion that inherited rare variants may contribute to the heritability of psychiatric disorders. [ABSTRACT FROM AUTHOR]

Backpacks are commonly worn by many people for multiple purposes. This study investigated the effects of habitual wearing of backpacks on lower limb kinematics and kinetics. Fourteen participants were recruited for analysis. All participants performed four randomly assigned scenarios, including running and walking at speeds of 3.5 and 1.5 m/s, respectively, with and without load carriage. The motion analysis system and force plate were used to investigate the lower limb kinematics and kinetics. A paired sample t-test was performed for statistical measurement with a significance level of α =.05. The results indicated that active force, breaking force, impact peak, loading rate, active peak, maximum braking, hip flexion, and hip range of motion were substantially higher under load carriage conditions than under walking condition, however, time to peak was lower. Conversely, during load carriage running, active force, braking impulse, time to peak, ankle plantarflexion, and ankle range of motion were all higher than those during running. Carrying a backpack weighing 10% of the body weight induced different foot strike patterns at both speeds; during load carriage walking, the hip tended to flex more; whereas, during load carriage running, the ankle tended to flex more. In conclusion, human body seems to adopt different gait strategies during load carriage walking and running. That is, the hip strategy is used during walking, while the ankle strategy is used during running. [ABSTRACT FROM AUTHOR]

Offshore wind power is a valuable renewable energy source. However, the development of offshore wind farms is facing many challenges, including understanding their impacts on ecosystems and society, as well as knowledge gaps in research. In this study, a bibliometric analysis was performed with the aim of providing a comprehensive understanding of current global progress in offshore wind farm research. Three stages of development were considered for the analysis and comparison of research characteristics and outcomes. Based on the total number of scientific publications and the international collaboration ratio (ICR), Europe has been leading research in and the development of offshore wind power since the early 1990s. However, a fast-growing period of offshore wind farm development occurred after 2000, during which Europe and Asia in particular showed increases in ICR. The installation of offshore wind turbines may have non-negligible adverse impacts on marine ecosystems, especially in ecologically vulnerable regions or developing countries. Research and relevant studies should be integrated to investigate and reduce the ecological and environmental damage that results from offshore wind farm development. This paper presents a systematic evaluation of the global developmental trends in offshore wind farm research, which could help to characterize and guide future trends within this field. [ABSTRACT FROM AUTHOR]