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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]

Tremendous progress in the development of single molecule magnets (SMMs) raises the question of their device integration. On this route, understanding the properties of low‐dimensional assemblies of SMMs, in particular in contact with electrodes, is a necessary but difficult step. Here, it is shown that fullerene SMM self‐assembled on metal substrate from solution retains magnetic hysteresis up to 10 K. Fullerene‐SMM DySc2N@C80 and Dy2ScN@C80 are derivatized to introduce a thioacetate group, which is used to graft SMMs on gold. Magnetic properties of grafted SMMs are studied by X‐ray magnetic circular dichroism and compared to the films of nonderivatized fullerenes prepared by sublimation. In self‐assembled films, the magnetic moments of the Dy ions are preferentially aligned parallel to the surface, which is different from the disordered orientation of endohedral clusters in nonfunctionalized fullerenes. Whereas chemical derivatization reduces the blocking temperature of magnetization and narrows the hysteresis of Dy2ScN@C80, for DySc2N@C80 equally broad hysteresis is observed as in the fullerene multilayer. Magnetic bistability in the DySc2N@C80 grafted on gold is sustained up to 10 K. This study demonstrates that self‐assembly of fullerene‐SMM derivatives offers a facile solution‐based procedure for the preparation of functional magnetic sub‐monolayers with excellent SMM performance. [ABSTRACT FROM AUTHOR]

Muscles serve as a critical regulator of locomotion and damping, resulting in changes of soft tissue vibration. However, whether muscle fibre compositions of different individuals will cause different extents of soft tissue vibration during gait is unclear. Therefore, this study investigated the differences in lower extremity vibration frequencies among power-trained and non-power-trained athletes during walking and running. Twelve weightlifting athletes were assigned to the power-trained group and twelve recreational runners were assigned to the non-power-trained group. Accelerometers were used to detect soft tissue compartment vibration frequencies of the rectus femoris (RF) and gastrocnemius medialis (GMS) during walking and running. Results indicated that power-trained athletes, as compared to the non-power-trained, induced significantly (p < 0.05) higher vibration frequencies in their soft tissue compartments during walking and running. This suggests that power-trained athletes, who have higher ratios of fatigable fast-twitch muscle fibres, may have induced higher soft tissue compartment vibration frequencies. As a result, there is a likelihood that power-trained athletes may recruit more fatigable fast-twitch muscle fibres during muscle tuning, causing dysfunctions during prolonged exercises. [ABSTRACT FROM AUTHOR]

Carbon label, which is also known as the carbon footprint label or carbon emission label, is the sum of carbon dioxide emissions generated from each stage in the life cycle of a product. Reports show that human activities increase greenhouse gas concentrations and cause global warming. Carbon-labeling schemes could fill the gap in climate policies by influencing the behavior of consumers toward the purchasing of green products. This finding indicates the significance of developing an internally applicable carbon-labeling policy before releasing international standards. Therefore, this study intends to provide an analytic network process and strength–weakness–opportunity–threat analysis approach to prioritize the carbon-labeling policy in Taiwan. Results indicate that the best policies for implementing carbon labeling in Taiwan include promotion through multiple approaches, aggressive utilization of government resources, intensive participation in international events, and extensive launch of international knowledge. In addition, this article provides guidelines and systemic decision patterns for carbon-labeling implementation to help governments and firms to develop and adjust their strategy for future carbon label implementation. [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]

Genetic polymorphisms of apolipoprotein E (APOE) are associated with various health conditions and diseases, such as Alzheimer’s disease, cardiovascular diseases, type 2 diabetes, etc. Hence, genotyping of APOE has broad applications in biomedical research and clinical settings, particularly in the era of precision medicine. The study aimed to develop a convenient and accurate method with flexible throughput to genotype the APOE polymorphisms. A melting curve-based allele-specific PCR method was developed to genotype two single nucleotide polymorphisms (SNPs) of APOE, i.e. rs429358 at codon 112 and rs7412 at codon 158. These two SNPs determine the genotype of APOE2, E3, and E4. PCR-based Sanger sequencing was used as the reference method for APOE genotyping. A 100% concordance rate was obtained in 300 subjects between the melting curve-based allele-specific PCR method and the Sanger sequencing method. This method was applied to a genetic association analysis of APOE and schizophrenia consisting of 711 patients with schizophrenia and 665 control subjects from Taiwan. However, no significant differences in the allele and genotype frequencies were detected between these two groups. Further experiments showed that DNA dissolved from blood collected on Guthrie filter paper and total blood cell lysate without DNA extraction can be used in the melting curve-based allele-specific PCR method. Thus, we suggest that this is a fast, accurate and robust APOE genotyping method with a flexible throughput and suitable for DNA template from different preparations. This convenient method shall meet the different needs of various research and clinical laboratories. [ABSTRACT FROM AUTHOR]

The purpose of this study was to analyse the force output of handle and pedal as well as the electromyography (EMG) of lower extremity in different cycling postures. Bilateral pedalling asymmetry indices of force and EMG were also determined in this study. Twelve healthy cyclists were recruited for this study and tested for force output and EMG during steady state cycling adopting different pedalling and handle bar postures. The standing posture increased the maximal stepping torque (posture 1: 204.2 47.0 Nm; posture 2: 212.5 46.1 Nm; posture 3: 561.5 143.0 Nm; posture 4: 585.5 139.1 Nm), stepping work (posture 1: 655.2 134.6 Nm; posture 2: 673.2 116.3 Nm; posture 3: 1852.3 394.4 Nm; posture 4: 1911.3 432.9 Nm), and handle force (posture 1: 16.6 3.6 N; posture 2: 16.4 3.6 N; posture 3: 26.5 8.2 N; posture 4: 41.4 11.1 N), as well as muscle activation (posture 1: 13.6–25.1%; posture 2: 13.0–23.9%; posture 3: 23.6–61.8%; posture 4: 22.5–65.8%) in the erector spine, rectus femoris, tibialis anterior, and soleus. However, neither a sitting nor a standing riding posture affected the hamstring. The riding asymmetry was detected between the right and left legs only in sitting conditions. When a cyclist changes posture from sitting to standing, the upper and lower extremities are forced to produce more force output because of the shift in body weight. These findings suggest that cyclists can switch between sitting and standing postures during competition to increase cycling efficiency in different situations. Furthermore, coaches and trainers can modify sitting and standing durations to moderate cycling intensity, without concerning unbalanced muscle development. [ABSTRACT FROM AUTHOR]

A new flexible hexakis-fullerene adduct with two bis(pyridin-4-ylmethyl)malonate groups located at trans-1 positions was synthesized. Via reaction with Ag(PF6) under two different conditions, two new 1D coordination polymers were obtained; under a nitrogen atmosphere, the silver ions are connected by argentophilic interactions but under an ambient atmosphere, the silver ions exhibit no interaction between them but coordination to the (H2PO4)− ions. [ABSTRACT FROM AUTHOR]

Ligand substitution reaction of the fullerophosphine PPh 2 ( o -C 6 H 4 )(CH 2 NMeCH)C 60 ( 1 ) with AuCl(SC 4 H 8 ) affords AuCl(PPh 2 ( o -C 6 H 4 )(CH 2 NMeCH)C 60 ) ( 2 ) in good yields. In the presence of AgPF 6 , compound 2 reacts with 1 to produce [Au(PPh 2 ( o -C 6 H 4 )(CH 2 NMeCH)C 60 ) 2 ]PF 6 ( 3 ), where the Au(I) ion is coordinated by two molecules of 1 in a dumbbell-shaped feature. On the other hand, compound 1 undergoes a nucleophilic addition to (AuC CPh) n to generate Au(C CPh)(PPh 2 ( o -C 6 H 4 )(CH 2 NMeCH)C 60 ) ( 4 ). The structures of 2 – 4 have been determined by an X-ray diffraction study. [ABSTRACT FROM AUTHOR]

The reaction of the tetrakis[di(ethoxycarbonyl)methano]-C60 (1) with Ru3(CO)12 afforded the first bis-parallel C60–metal cluster complex: parallel-[Ru3(CO)9]2{μ3-η2,η2,η2-C60[C(COOC2H5)2]4}. The two triruthenium groups are found in either a parallel or a tilted orientation relative to each other, as determined by NMR. Only the parallel form was characterized by X-ray crystallography. [ABSTRACT FROM AUTHOR]

Two 65 nm bulk complementary metal-oxide-semiconductor (CMOS) digital application-specific integrated circuit (ASIC) chips were designed, and then tested in a heavy ion accelerator to characterize single-event effects (SEE). Test chip 1 incorporates test structures, and test chip 2 implements an unhardened and a hardened digital signal processing (DSP) core. Our testing results reveal the radiation effects on the low-voltage and high-frequency operations of the ASIC chips. At a low supply voltage of 0.7 V, cross sections increase by a factor of 2 to 5 at low linear energy transfer (LET), while the increase in cross section at high LET is almost negligible, suggesting that the charge conveyed by heavy ion has far exceeded the critical charge and tuning the supply voltage is not effective. Increasing the clock frequency increases the relative importance of single-event transients (SET) compared to single-event upsets (SEU), especially in hardened designs due to their better SEU immunity. The hardened DSP core experiences a factor of 2 increase in cross section when its clock frequency is increased from 100 MHz to 500 MHz. [ABSTRACT FROM PUBLISHER]

Simple Summary: Middle-aged worker bees express higher innate immunity than young worker bees in the whole body of worker bees reared in field hives, the whole body of worker bees reared in a 34 °C incubator, and the abdomen without the digestive tract of worker bees reared in a 34 °C incubator. Worker bees raised in an incubator avoid the infection of pathogens and parasites in field hives. The abdomen without the digestive tract is a simplified sample, preventing RNA from the head, thorax, and digestive tract. The abdomen without the digestive tract of worker bees reared in an incubator can be used in studying the relationship between immunity, aging and longevity. Honey bees (Apis mellifera) can be reared in an incubator to study the mechanisms of aging and longevity; however, whether breeding in an incubator and using the abdomen without the digestive tract influences the expression of immune genes is unclear. In this study, we assayed the immune genes including abaecin, hymenoptaecin, defensin-2, glucose dehydrogenase, phenoloxidase, and lysozyme from the whole body of young and middle-aged worker bees reared in field hives, the whole body of young and middle-aged worker bees reared in a 34 °C incubator, and the abdomen without the digestive tract of young and middle-aged worker bees reared in a 34 °C incubator. The results showed that three groups of middle-aged worker bees have higher immunity than young worker bees. Furthermore, the similarity of immune genes expression in three groups indicated that the abdomen without the digestive tract of honey bees reared in an incubator can be used to study the relationship between immunity and aging and longevity to avoid the interference of pathogens and parasites from field hives. [ABSTRACT FROM AUTHOR]

GABRB3 encoding the β3 subunit of GABAA receptor has been implicated in multiple neuropsychiatric disorders, including substance abuse. Previous studies reported that SNPs at the 5′ regulatory region of GABRB3 could regulate GABRB3 gene expression and associated with childhood absence epilepsy (CAE). The study aimed to investigate whether SNPs at the 5′ regulatory region of GABRB3 were associated with heroin dependence in our population. We first re-sequenced 1.5 kb of the 5′regulatory region of GABRB3 gene to examine the SNP profile in the genomic DNA of 365 control subjects. Then, we conducted a case-control association analysis between 576 subjects with heroin dependence (549 males, 27 females) and 886 controls (472 males, 414 females) by genotyping the rs4906902 as a tag SNP. We also conducted a reporter gene assay to assess the promoter activity of two major haplotypes derived from SNPs at this region. We detected 3 common SNPs (rs4906902, rs8179184 and rs20317) at this region that had strong pair-wise linkage disequilibrium. The C allele of rs4906902 was found to be associated with increased risk of heroin dependence (odds ratio:1.27, p = 0.002). Two major haplotypes (C-A-G and T-G-C) derived from these 3 SNPs accounted for 99% of this sample, and reporter gene activity assay showed that haplotype C-A-G that contained the C allele of the tag SNP rs4906902 had higher activity than haplotype T-G-C. Our data suggest that GABRB3 might be associated with heroin dependence, and increased expression of GABRB3 might contribute to the pathogenesis of heroin dependence. [ABSTRACT FROM AUTHOR]

The reactions of [(μ-H)3Re3(CO)11(NCMe)] with Sc2@C82- C3 v(8), Sc2C2@C80- C2 v(5), Sc2O@C82- Cs(6), C86- C2(17), and C86- Cs(16) have been carried out to produce face-capping cluster complexes. The Re3 triangles are found to bind to the sumanene-type hexagons on the fullerene surface regiospecifically. In contrast, Sc3N@C78- D3 h(5) and Sc3N@C80- Ih show no reactivity toward [(μ-H)3Re3(CO)11(NCMe)], probably due to electronic and steric factors. These complexes can be easily purified by using HPLC. Carbonylation of each complex releases the corresponding higher fullerene or endohedral metallofullerene in pure form. Remarkably, the C86- C2(17) and C86- Cs(16) isomers were successively separated through Re3 cluster complexation/decomplexation. This unique bonding feature may provide an attractive general strategy to purify as yet unresolved fullerene mixtures. [ABSTRACT FROM AUTHOR]

This study employs a content analysis approach to analyze the Websites of four major science centers in Taiwan. The aim is to determine if their Websites meet the criteria of 'Evaluating Science WWW Resources' established by North Carolina State University. The criteria consist of five categories and 29 items. The five categories are: Science Content Issues, Navigation, Website Design, Performance, and Multimedia Issues. The results of this study indicate that the Websites of the four science centers mostly conformed to the criteria, and their e-resources are sufficient for the general public. However, several recommendations are proposed based from the results. In Science Content Issues, a description about the responsible authors including their credentials, emails, and biographical information should be added so that the content can be validated by scientists or professional educators. In Multimedia Issues, Web 2.0 social networks may be added to allow users to share information in real time. [ABSTRACT FROM AUTHOR]

Rare mutations associated with schizophrenia (SZ) and bipolar disorder (BD) usually have high clinical penetrance; however, they are highly heterogeneous and personalized. Identifying rare mutations is instrumental in making the molecular diagnosis, understanding the pathogenesis, and providing genetic counseling for the affected individuals and families. We conducted whole-genome sequencing analysis in two multiplex families with the dominant inheritance of SZ and BD. We detected a G327E mutation of SCN9A and an A654V mutation of DPP4 cosegregating with SZ and BD in one three-generation multiplex family. We also identified three mutations cosegregating with SZ and BD in another two-generation multiplex family, including L711S of SCN9A, M4554I of ABCA13, and P159L of SYT14. These five missense mutations were rare and deleterious. Mutations of SCN9A have initially been reported to cause congenital insensitivity to pain and neuropathic pain syndromes. Further studies showed that rare mutations of SCN9A were associated with seizure and autism spectrum disorders. Our findings suggest that SZ and BD might also be part of the clinical phenotype spectra of SCN9A mutations. Our study also indicates the oligogenic involvement in SZ and BD and supports the multiple-hit model of SZ and BD. [ABSTRACT FROM AUTHOR]

Schizophrenia is a complex genetic disorder involving many common variants with modest effects and rare mutations with high penetrance. Rare mutations associated with schizophrenia are highly heterogeneous and private for affected individuals and families. Identifying such mutations can help establish the molecular diagnosis, elucidate the pathogenesis, and provide helpful genetic counseling for affected patients and families. We performed a whole-exome sequencing analysis to search for rare pathogenic mutations co-segregating with schizophrenia transmitted in a dominant inheritance in a two-generation multiplex family. We identified a rare missense mutation H1574R (Histidine1574Arginine, rs199796552) of KMT2C (lysine methyltransferase 2C) co-segregating with affected members in this family. The mutation is a novel deleterious mutation of KMT2C, not reported before in the literature. The KMT2C encodes a histone 3 lysine 4 (H3K4)-specific methyltransferase and involves epigenetic regulation of brain gene expression. Mutations of KMT2C have been found in neurodevelopmental disorders, such as Kleefstra syndrome, intellectual disability, and autism spectrum disorders. Our finding suggests that schizophrenia might be one of the clinical phenotype spectra of KMT2C mutations, and KMT2C might be a novel risk gene for schizophrenia. Nevertheless, the co-segregation of this mutation with schizophrenia in this family might also be due to chance; functional assays of this mutation are needed to address this issue. [ABSTRACT FROM AUTHOR]

Schizophrenia and bipolar disorder are severe mental disorders with a major component of genetic factors in their etiology. Rare mutations play a significant role in these two disorders, and they are highly heterogeneous and personalized. Identification of personalized mutations is essential for the establishment of molecular diagnosis, providing insight into pathogenesis and guiding the personalized treatment for each affected patient. We conducted whole-genome sequencing analysis of families with schizophrenia and bipolar disorder to search for their genetic underpinnings. This report identified a rare missense mutation Arg1087Gln of BSN (bassoon presynaptic cytomatrix protein) co-segregating with schizophrenia in a family with multiple affected members. Furthermore, we identified the rare missense mutation Ser1535Leu of PCLO (piccolo presynaptic cytomatrix protein) in two sisters with bipolar disorder and another rare missense mutation, His5142Arg in PCLO, in a patient with schizophrenia. These three missense mutations were very rare and were predicted to be pathogenic. The BSN and PCLO genes encode two structurally related proteins of the presynaptic cytomatrix at the active zone that regulates neurotransmission at the presynaptic neuronal terminal. Our findings suggest the involvement of the presynaptic matrix in the pathogenesis of schizophrenia and bipolar disorder, and BSN and PCLO are the risk genes for schizophrenia and bipolar disorder. [ABSTRACT FROM AUTHOR]

Abstract: The characteristics of the Cu-rich Cu(In,Ga)Se2 (CIGS) films prepared by one-step sputtering process from a single quaternary target have been studied. The influences of working pressure, substrate temperature, Mo back contact, and KCN treatment on the properties of CIGS films were investigated. Target stability has been in-situ monitored by using optical emission spectroscopy. Obvious compositional change due to the KCN effect was observed, while only slight variation was caused by working pressure. We found the preferred orientation and crystallinity of one-step sputtered CIGS films were affected by the working pressure and substrate temperature when CIGS were directly deposited on the glass substrates. However, for the device fabrication, Mo back contacts dominated the growth behavior of CIGS films and induced better crystallinity with larger CIGS grain sizes. To explore the electrical properties of CIGS films on Mo back contacts, we developed a simple two-point probe measurement to examine the conductive channels within CIGS films before the device fabrication. Finally, one-step sputtered CIGS devices showed the efficiency of more than 8% at the working pressure of 0.4–2.7Pa with KCN treatment. [Copyright &y& Elsevier]

Designing a real-time video-streaming system involves the challenges of, network congestion and bandwidth fluctuations, lowering the video quality. In this paper, a realtime video-streaming system is designed and implemented for scalable video coding (SVC) with an adaptive control scheme, containing macro- and micro-control, to resolve the bandwidth fluctuation and network congestion. Under macro-control, the server allocates appropriated video-streaming of SVC for heterogeneous clients based on terminal capacity and network conditions. Under micro-control, the server changes the video frame rate based on video bit rates and network bandwidth. The streaming system with the adaptive control scheme is implemented to improve the peak signal noise ratio (PSNR) by 4.01 % to 10.89 % of the Foreman and Stefan videos. [ABSTRACT FROM AUTHOR]

Abstract: One-step fabrication of the chalcopyrite Cu(In,Ga)Se2 (CIGS) absorber layer without excess Se supply during/after deposition or post-selenization treatments is reported. By using pulse DC sputtering from a single quaternary CIGS target, the chalcopyrite structure is spontaneously developed on the substrate at 500°C even without extra Se supply. The obtained CIGS absorber layer possesses columnar grains with (112) preferred orientation. Device efficiency of 8.22% is observed for slightly Se-deficient CIGS films. By further tuning the target composition, the efficiency is enhanced to 10.14%. We demonstrate that the device-quality CIGS absorber can be formed even in the Se-deficient environment and further improvement of efficiency can be achieved by tuning the Se content of the target. Accordingly, our one-step sputtering process shows great potential for mass production of thin film CIGS solar cells with a low cost and a high throughput. [Copyright &y& Elsevier]

Queen honey bees (Apis mellifera) have a much longer lifespan than worker bees; however, the longevity-promoting mechanisms of queen bees are still unclear. Assaying cellular activities can explore the longevity-promoting mechanisms of queen bees because the longevity of individuals is based on the longevity of their cells. In this study, NAD+ levels, NAD+/NADH ratio, ATP levels, AMPK activity, lysosome activity, and ribosomal protein S6 mRNA levels were assayed to evaluate whether queen bees have higher cellular activities than worker bees. The results showed that the trophocytes and oenocytes of queen bees have higher cellular activities than that of worker bees. To explore which signaling pathway increases these cellular activities, the cAMP concentration and the mRNA levels of AC, PKA, RAS, MEK, and RSK were assayed. The results showed that the trophocytes and oenocytes of queen bees exhibit higher cAMP concentration and mRNA levels of AC, PKA, RAS, MEK, and RSK than that of worker bees. Combining these findings suggested that the cAMP/PKA and RAS/MAPK signaling pathways may increase cellular activities leading to the longevity of queen bees. [ABSTRACT FROM AUTHOR]

Abnormal myelination is considered as part of the pathophysiology of schizophrenia. We resequenced the genomic DNA of the EGR2 , which has a specific function in the myelination of peripheral nervous system, in 543 schizophrenic patients and 554 non-psychotic controls. We identified six known SNPs, which were not associated with schizophrenia. Nevertheless, we discovered 24 rare mutations, some of them were patient-specific, including a recurrent mutation (p.P173_Y174insP), which might be associated with the pathogenesis of schizophrenia. [ABSTRACT FROM AUTHOR]

Abstract: Synaptogyrin 1 gene (SYNGR1) is considered as a positional candidate gene for schizophrenia because of its location at chromosome 22q13, a region linked to schizophrenia, and its reduced expression in postmortem brain of patients with schizophrenia. Additionally, genetic studies also reported association of SYNGR1 is with schizophrenia and bipolar disorder in southern India. Prompted by these findings, we were interested to know if SYNGR1 is also associated with schizophrenia in our population. Therefore, we systematically searched for SYNGR1 mutations in a cohort of Han Chinese patients from Taiwan. Four single nucleotide polymorphisms (SNPs) were identified, including three at the putative core promoter region (g.-673A>C, g.-377G>A and g.-318G>T) that are in strong linkage disequilibrium and one in intron 2 (IVS2-64C>G). Computer program predicts that g.-637A>C and g.318G>T may change transcription binding sites of AP-1 and TGT3, respectively. We further carried out SNP- and haplotype-based case-control association studies of these tress SNPs with schizophrenia. However, no association was detected between these SNPs and schizophrenia in our sample. Nevertheless, we identified several rare mutations in exon 6 of SYNGR1 gene in our patient cohort (n =497), including a 3-bp (AAC) in-frame insertion between codon 202 and 203 (P202_T203insN) in two patients, an A-to-G missense mutation (c.665A>G) at codon 222 (D222G) in one patient, a synonymous mutation (c.669C>T) at codon 223 (T223T) in one patient, and a C-to-T at 3′ UTR of SYNGR1 (c.772C>T) in one patient. These are mutations were not found in 507 control subjects, suggesting further functional assays are warranted to verify their relevance to the pathogenesis of schizophrenia. [Copyright &y& Elsevier]

Abstract: Long-term administration of antipsychotic drugs can induce differential expression of various proteins in brain cells, which may underscore the molecular mechanism of their clinical efficacy and/or side effects. We used two-dimensional gel electrophoresis in combination with mass spectrometry to screen differentially expressed proteins in the brain cells of rats under chronic clozapine treatment. We identified a protein, transthyretin, which was significantly up-regulated in the hippocampus of rats after four weeks’ treatment of clozapine (20mg/kg) as compared with control animals. Western blot analysis further supported this finding. Besides, we also observed increased transcription of transthyretin mRNA in the cerebral cortex of rats under chronic treatment of clozapine (20mg/kg) or olanzapine (2mg/kg), but not haloperidol (1mg/kg), using real-time quantitative PCR. Transthyretin is a retinol carrier protein, our findings suggest that antipsychotic drugs treatment may affect the retinoid signaling cascade in the brain. Besides, transthyretin is also an indicator of nutritional status; increased transthyretin may be associated with the body weight gain of taking atypical antipsychotic drugs. This study also demonstrates that comparative proteome analysis is a feasible method to study the molecular mechanism of chronic antipsychotic drugs treatment. [Copyright &y& Elsevier]

Abstract: Chronic antipsychotic drugs treatment may regulate the expression of a variety of genes in the brain, which may underscore their clinical efficacy and/or side effects. In this study, we measured the mRNA levels of three genes encoding the catabolic enzymes of biogenic amine neurotransmitters, i.e., monoamine oxidase A (MAOA), B (MAOB) and catechol O-methyltransferase (COMT), in rat frontal cortex following 4 weeks’ treatment of various antipsychotic drugs using quantitative PCR. Significantly elevated mRNA levels of MAOB and COMT were first observed in frontal cortex of rats treated with risperidone (1mg/kg) when compared to control animals. Further study showed that chronic treatment of olanzapine (2mg/kg), but not haloperidol (1mg/kg) or clozapine (20mg/kg), resulted in significantly increased mRNA levels of MAOA, MAOB and COMT in rat frontal cortex as compared to control animals. These results indicate that chronic treatment of different antipsychotic drugs may differentially regulate the gene expression of three catabolic enzymes of biogenic amine neurotransmitters, and which may partly account for the molecular mechanism of their different clinical efficacy. [Copyright &y& Elsevier]

Abstract: Reelin is an extracellular matrix glycoprotein that plays an important role in guiding neuronal migration, lamination and connection during embryonic brain development. Several reports suggest that reduced reelin expression is associated with human mental illnesses such as schizophrenia, mood disorders and autism. Human reelin cDNA has been cloned and contains a polymorphic GGC repeat at the 5′ untranslated region. In view of the possible regulation of reelin gene expression by this GGC polymorphism, we investigated the association of the polymorphic GGC repeat with schizophrenia in a Chinese Han population from Taiwan. We found no differences of allelic and genotypic distributions of the polymorphic GGC triplets between 162 schizophrenic patients and 176 controls in this study. Our findings do not support the involvement of the polymorphic GGC triplets of the reelin gene in the pathogenesis of schizophrenia in the population studied. [Copyright &y& Elsevier]

Long-term administration of antipsychotic drugs can induce differential expression of a variety of genes in the brain, which may underscore the molecular mechanism of the clinical efficacy and/or side effects of antipsychotic drugs. We used cDNA microarray analysis to screen differentially expressed genes in rat frontal cortex under 4 weeks' treatment of risperidone (1 mg/kg). Using real-time quantitative PCR, we were able to verify eight genes, whose expression were significantly upregulated in rat frontal cortex under chronic risperidone treatment when compared with control animals. These genes include receptor for activated protein kinase C, amida, cathepsin D, calpain 2, calcium-independent receptor for α-Iatrotoxin, monoamine oxidase B, polyubiquitin, and kinesin light chain. In view of the physiological function of these genes, the results of our study suggest that chronic risperidone treatment may affect the neurotransmission, synaptic plasticity, and proteolysis of brain cells. This study also demonstrates that cDNA microarray analysis is useful for uncovering genes that are regulated by chronic antipsychotic drugs treatment, which may help bring new insight into the molecular mechanism of antipsychotic drugs. [ABSTRACT FROM AUTHOR]

Recent molecular genetic studies have reported a positive association of schizophrenia with several single nucleotide polymorphisms (SNPs) and haplotypes from the human dystrobrevin-binding protein 1 (DTNBP1) gene locus on chromosome 6p. This finding suggests that the DTNBP1 gene is likely a susceptible gene for schizophrenia. Because all the SNPs showing positive association with schizophrenia locate at the intronic sequences of the DTNBP1 gene, we set out to search for mutations in the protein-coding sequences and at the 5′ promoter region of the DTNBP1 gene to investigate if the DTNBP1 gene is a schizophrenia-susceptible gene. We directly sequenced the cDNA of DTNBP1 gene in 50 schizophrenic patients and the 5′ promoter region of the DTNBP1 genomic DNA in 94 schizophrenia patients. No mutations were identified in either the protein-coding sequences or the 5′ promoter region of the human DTNBP1 gene in this sample. Thus, in contrast to prior studies reporting positive association of the DTNBP1 gene with schizophrenia in both Irish and German population, our data indicate that the human DTNBP1 is unlikely a major susceptible gene for schizophrenia in Chinese Han patients from Taiwan. [Copyright &y& Elsevier]

Simple Summary: Fish larvae and juveniles are necessary fishery recruitment resources. As climate change and natural climate events continue to impact marine ecology, it may become difficult to determine the characteristics of changes in fish larvae and juveniles. Using samples and data from long-term marine experimental monitoring, we found a high diversity of fish larvae and juveniles in the waters around Taiwan, and the abundance of different fish species varied spatially and seasonally. We also found that distance from the coastline and topography were the key factors affecting the community of fish larvae and juveniles. By presenting these data as times series, we confirmed that 2009 was a critical year for regime change between fish larvae and juveniles in different depth zones. The year also happened to include Taiwan's worst typhoon on record. These results emphasize the need to conduct more detailed research to prevent predictable and unpredictable shocks. Taiwan is located at the intersection of tropical and subtropical islands in the western Pacific Ocean. This area is an important spawning and breeding ground for many economic and noneconomic species; however, little is known about the long-term dynamics of fish larvae and juveniles in these waters. In this study, we conducted an in-depth exploration of their spatial characteristics using 2007–2019 field survey samples. Our results demonstrated the seasonality and spatiality of the larvae and juveniles of different fish species. We also found that the continental shelf and offshore distance were key factors affecting fish larvae and juveniles. Changes in community structure were temporally correlated with the extreme rainfall of Typhoon Morakot (the worst typhoon ever recorded in Taiwan). These data can be used as a management reference for fisheries' policymaking and provide key insights into nearby marine ecosystems and the early life history of fish. [ABSTRACT FROM AUTHOR]

Remote sensing (RS) technology, which can facilitate the sustainable management and development of fisheries, is easily accessible and exhibits high performance. It only requires the collection of sufficient information, establishment of databases and input of human and capital resources for analysis. However, many countries are unable to effectively ensure the sustainable development of marine fisheries due to technological limitations. The main challenge is the gap in the conditions for sustainable development between developed and developing countries. Therefore, this study applied the Web of Science database and geographic information systems to analyze the gaps in fisheries science in various countries over the past 10 years. Most studies have been conducted in the offshore marine areas of the northeastern United States of America. In addition, all research hotspots were located in the Northern Hemisphere, indicating a lack of relevant studies from the Southern Hemisphere. This study also found that research hotspots of satellite RS applications in fisheries were mainly conducted in (1) the northeastern sea area in the United States, (2) the high seas area of the North Atlantic Ocean, (3) the surrounding sea areas of France, Spain and Portugal, (4) the surrounding areas of the Indian Ocean and (5) the East China Sea, Yellow Sea and Bohai Bay sea areas to the north of Taiwan. A comparison of publications examining the three major oceans indicated that the Atlantic Ocean was the most extensively studied in terms of RS applications in fisheries, followed by the Indian Ocean, while the Pacific Ocean was less studied than the aforementioned two regions. In addition, all research hotspots were located in the Northern Hemisphere, indicating a lack of relevant studies from the Southern Hemisphere. The Atlantic Ocean and the Indian Ocean have been the subjects of many local in-depth studies; in the Pacific Ocean, the coastal areas have been abundantly investigated, while offshore local areas have only been sporadically addressed. Collaboration and partnership constitute an efficient approach for transferring skills and technology across countries. For the achievement of the sustainable development goals (SDGs) by 2030, research networks can be expanded to mitigate the research gaps and improve the sustainability of marine fisheries resources. [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]

Abstract: Background: Patients with late‐life depression may be at the preclinical stage of dementia. However, the neurodegenerative processes in late‐life depression are poorly understood. This study aimed to investigate the distribution patterns of amyloid pathology and neurodegeneration in a depressive population without dementia. Methods: The study recruited 63 middle‐aged and elderly patients with major depressive disorder (MDD) and 22 control subjects. The MDD patients were further subdivided into those with mild cognitive impairment (MCI) (n = 24) and non‐MCI (n = 39) patients. We used the global standardized uptake value ratio of 18F‐florbetapir (AV‐45/Amyvid) positron emission tomography imaging as a biomarker of cerebral amyloidosis and the hippocampal volume as a biomarker for neurodegeneration. Cutoff points of brain amyloid positivity and hippocampal atrophy were determined using independent data obtained from clinically diagnosed Alzheimer's disease (AD) patients in a previous study. Results: Most of the control subjects (81.8%) were biomarker‐negative, in contrast to the MCI MDD patients (37.5%). A relatively high proportion of the MCI MDD patients (12.5%) exhibited both amyloid positivity and hippocampal atrophy as compared to the control subjects (4.5%) and non‐MCI patients (5.1%). However, a considerable proportion of the MCI MDD patients (29.2%) were categorized into the group with hippocampal atrophy alone, and negative amyloid deposition, as compared to the control subjects (0%) and non‐MCI patients (5.1%). Conclusions: This study highlights the expected heterogeneity of the processes of neurodegeneration in MDD patients. The diverse neurodegenerative processes may have important etiologic and therapeutic implications regarding neurodegenerative pathophysiology in late‐life depression. [ABSTRACT FROM AUTHOR]

An abstract of the article "Effects of the forefoot bending elasticity on performance in running" by Chia-Hsiang Chen, Kuan-Hua Tu and Tzyy-Yuang Shiang is presented.

We report terahertz (THz) radiation from a 250-μm-diameter metal wire irradiated by a 160-fs infrared laser pulse. The detected radiation field is comparable to that from a 1-mm thick <110> ZnTe THz emitter under the same incident laser intensity of 280 GW/cm2. Photoemission is considered as the dominant mechanism to generate the transient radiation current in the wire. [ABSTRACT FROM AUTHOR]

Activity-regulated cytoskeleton-associated protein (ARC), which interacts with the N-methyl-d-aspartate receptor (NMDAR) complex, is a critical effector molecule downstream of multiple neuronal signaling pathways. Dysregulation of the ARC/NMDAR complex can disrupt learning, memory, and normal brain functions. This study examined the role of ARC in susceptibility to schizophrenia. We used a resequencing strategy to identify the variants of ARC in 1078 subjects, including patients with schizophrenia and normal controls. We identified 16 known SNPs and 27 rare mutations. SNP-based analysis showed no association of ARC with schizophrenia. In addition, the rare mutations did not increase the burden in patients compared with controls. However, one patient-specific allele in the putative ARC promoter region and seven patient-specific mutants in ARC exon regions significantly reduced the reporter gene activity compared with ARC wild-type. Methylation of a putative ARC promoter attenuated reporter activity in vitro, suggesting that ARC expression is regulated by DNA methylation. Pyrosequencing revealed eight hypermethylated CpG sites in the putative ARC promoter region in 64 schizophrenic patients compared with 63 controls. Taken together, our results suggest that both rare variants and epigenetic regulation of ARC contribute to the pathogenesis of schizophrenia in some patients. [ABSTRACT FROM AUTHOR]

Methamphetamine (METH) is a highly addictive psychostimulant that may cause long-lasting synaptic dysfunction and abnormal gene expression. We aimed to explore the differential expression of synaptic plasticity genes in chronic METH-treated mouse brain. We used the RT 2 Profiler PCR Array and the real-time quantitative PCR to characterize differentially expressed synaptic plasticity genes in the frontal cortex and the hippocampus of chronic METH-treated mice compared with normal saline-treated mice. We further used pyrosequencing to assess DNA methylation changes in the CpG region of the five immediate early genes (IEGs) in chronic METH-treated mouse brain. We detected six downregulated genes in the frontal cortex and the hippocampus of chronic METH-treated mice, including five IEGs ( Arc , Egr2 , Fos , Klf10 , and Nr4a1 ) and one neuronal receptor gene ( Grm1 ), compared with normal saline-treated group, but only four genes ( Arc , Egr2 , Fos , and Nr4a1 ) were confirmed to be different. Furthermore, we found several CpG sites of the Arc and the Fos that had significant changes in DNA methylation status in the frontal cortex of chronic METH-treated mice, while the klf10 and the Nr4a1 that had significant changes in the hippocampus. Our results show that chronic administration of METH may lead to significant downregulation of the IEGs expression in both the frontal cortex and the hippocampus, which may partly account for the molecular mechanism of the action of METH. Furthermore, the changes in DNA methylation status of the IEGs in the brain indicate that an epigenetic mechanism-dependent transcriptional regulation may contribute to METH addiction, which warrants additional study. [ABSTRACT FROM AUTHOR]

Intellectual disability (ID) and autism spectrum disorder (ASD) are complex neurodevelopmental disorders with high heritability. To search for the genetic deficits in two siblings affected with ID and ASD in a family, we first performed a genome-wide copy number variation (CNV) analysis using chromosomal microarray analysis (CMA). We found a 3.7 Mb microdeletion at 22q13.3 in the younger sister. This de novo microdeletion resulted in the haploinsufficiency of SHANK3 and several nearby genes involved in neurodevelopment disorders. Hence, she was diagnosed with Phelan–McDermid syndrome (PMS, OMIM#606232). We further performed whole-genome sequencing (WGS) analysis in this family. We did not detect pathogenic mutations with significant impacts on the phenotypes of the elder brother. Instead, we identified several rare, likely pathogenic variants in seven genes implicated in neurodevelopmental disorders: KLHL17, TDO2, TRRAP, EIF3F, ATP10A, DICER1, and CDH15. These variants were transmitted from his unaffected parents, indicating these variants have only moderate clinical effects. We propose that these variants worked together and led to the clinical phenotypes in the elder brother. We also suggest that the combination of multiple genes with moderate effects is part of the genetic mechanism of neurodevelopmental disorders. [ABSTRACT FROM AUTHOR]

A series of partially fused N‐doped nanographenes (2–4) are synthesized via the oxidative cyclodehydrogenation of oligoaryl‐substituted dibenzo[e,l]pyrene (1), and five, six, and seven new C−C bonds are formed, respectively, implying stepwise C−C bond fusion and extended π‐conjugation. Single‐crystal X‐ray diffraction analysis of compound 4 a revealed that the presence of sterically demanding groups hindered the formation of planar and fully fused nanographene in the oxidative cyclodehydrogenation reaction step. Optical study of compounds 2 to 4 showed that extended π‐conjugation leads to a regular stepwise bathochromic shift in the absorption and emission spectra. Furthermore, the HOMO–LUMO gaps of these compounds exhibit a decrease as C−C bond formation proceeds. Thus, the optoelectronic properties of nanographenes are highly dependent on the formation of new C−C bonds in the molecular skeleton. [ABSTRACT FROM AUTHOR]

Abstract: Background: Despite advances in the understanding of narcolepsy, little information the on association between narcolepsy and psychosis is available, except for amphetamine-related psychotic reactions. Our case-control study aimed to compare clinical differences and analyze risk factors in children who developed narcolepsy with cataplexy (N–C), schizophrenia, and N–C followed by schizophrenia. Methods: Three age- and gender-matched groups of children with N–C schizophrenia (study group), N–C (control group 1), and schizophrenia only (control group 2) were investigated. Subjects filled out sleep questionnaires, sleep diaries, and quality of life scales, followed by polysomnography (PSG), multiple sleep latency tests (MSLT), routine blood tests, HLA typing, genetic analysis of genes of interest, and psychiatric evaluation. The risk factors for schizophrenia also were analyzed. Results: The study group was significantly overweight when measuring body mass index (BMI) (P =.016), at narcolepsy onset compared to control group 1, and the study group developed schizophrenia after a mean of 2.55±1.8years. Compared to control group 2, psychotic symptoms were significantly more severe in the study group, with a higher frequency of depressive symptoms and acute ward hospitalization in 8 out of 10 of the subjects. They also had poorer long-term response to treatment, despite multiple treatment trials targeting their florid psychotic symptoms. All subjects with narcolepsy were HLA DQ B1∗0602 positive. The study group had a significantly higher frequency of DQ B1∗-03:01/06:02 (70%) than the two other groups, without any significant difference in HLA-DR typing, tumor necrosis factor α (TNF-α) levels, hypocretin (orexin) receptor 1 gene, HCRTR1, and the hypocretin (orexin) receptor 2 gene, HCRTR2, or blood infectious titers. Conclusion: BMI and weight at onset of narcolepsy as well as a higher frequency of DQ B1∗-03:01/06:02 antigens were the only significant differences in the N–C children with secondary schizophrenia; such an association is a therapeutic challenge with long-term persistence of severe psychotic symptoms. [Copyright &y& Elsevier]

Highlights: [•] Narcolepsy patients have higher plasma level of tumor necrosis factor α (TNF α) than control subjects. [•] Our data indicate that elevated TNF α is involved in the pathophysiology of narcolepsy. [•] However, three promoter single nucleotide polymorphisms of TNF-α gene are not associated with narcolepsy. [ABSTRACT FROM AUTHOR]