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Neurodevelopmental disorders (NDD) are complex and multifaceted diseases involving genetic and environmental sciences. Rapid developments in sequencing techniques have made it possible to identify new disease-causing genes. Our study aimed to identify novel genes associated with NDDs. Trio whole-exome sequencing was performed to evaluate potential NDD variants. We identified three unrelated patients with compound heterozygous DNAH14 variants. The detailed clinical information and genetic results of the recruited patients were obtained and systematically reviewed. Three compound heterozygous DNAH14 variants were identified as follows: c.6100C > T(p.Arg2034Ter) and c.5167A > G(p.Arg1723Gly), c.12640_12641delAA(p.Lys4214Valfs*7) and c.4811T > A(p.Leu1604Gln), andc.7615C > A(p.Pro2539Thr) and c.11578G > A(p.Gly3860Ser), including one nonsense, one frameshift, and four missense variants, which were not existent or with low minor allele frequencies based on the gnomAD database. The missense variants were assumed to be damaging or probably damaging by using multiple bioinformatics tools. Four of these variants were located in the AAA+ ATPase domain, while two were located in the C-terminal domain. Most affected amino acids were highly conserved in various species. A spectrum of neurological and developmental phenotypes was observed, including seizures, global developmental delay, microcephaly, and hypotonia. Thus, our findings indicate that variants of DNAH14 could lead to previously unrecognized NDDs.
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Dineínas/genética , Transtornos do Neurodesenvolvimento , Humanos , Mutação de Sentido Incorreto , Transtornos do Neurodesenvolvimento/genética , Fenótipo , Convulsões/genética , Sequenciamento do ExomaRESUMO
In the past 20 years, research in metal-O2 batteries has been one of the most exciting interdisciplinary fields of electrochemistry, energy storage, materials chemistry, and surface science. The mechanisms of oxygen reduction and evolution play a key role in understanding and controlling these batteries. With intensive efforts from many prominent research groups, it becomes clear that the instability of superoxide in the presence of Li ions (Li+) and Na ions (Na+) is the fundamental root cause for the poor stability, reversibility, and energy efficiency in aprotic Li-O2 and Na-O2 batteries. Stabilizing superoxide with large K ions (K+) provides a simple but elegant solution. Superoxide-based K-O2 batteries, invented in 2013, adopt the one-electron redox process of O2/potassium superoxide (KO2). Despite being the youngest metal-O2 technology, K-O2 is the most promising rechargeable metal-air battery with the combined advantages of low costs, high energy efficiencies, abundant elements, and good energy densities. However, the development of the K-O2 battery has been overshadowed by Li-O2 and Na-O2 batteries because one might think K-O2 is just an analogous extension. Moreover, due to the lower specific energy and the high reactivity of K metal, K-O2 is often underestimated and deemed unsuitable for practical applications. The objective of this Perspective is to highlight the unique advantages of K-O2 chemistry and to clarify the misconceptions prompted by the name "superoxide" and the judgment bias based on the claimed theoretical specific energies. We will also discuss the current challenges and our perspectives on how to overcome them.
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Although using an air cathode is the goal for superoxide-based potassium-oxygen (K-O2 ) batteries, prior studies were limited to pure oxygen. Now, the first K-air (dry) battery based on reversible superoxide electrochemistry is presented. Spectroscopic and gas chromatography analyses are applied to evaluate the reactivity of KO2 in ambient air. Although KO2 reacts with water vapor and CO2 to form KHCO3 , it is highly stable in dry air. With this knowledge, rechargeable K-air (dry) batteries were successfully demonstrated by employing dry air cathode. The reduced partial pressure of oxygen plays a critical role in boosting battery lifespan. With a more stable environment for the K anode, a K-air (dry) battery delivers over 100 cycles (>500â h) with low round-trip overpotentials and high coulombic efficiencies as opposed to traditional K-O2 battery that fails early. This work sheds light on the benefits and restrictions of employing the air cathode in superoxide-based batteries.
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Lithium-oxygen (Li-O2) batteries have been envisaged and pursued as the long-term successor to Li-ion batteries, due to the highest theoretical energy density among all known battery chemistries. However, their practical application is hindered by low energy efficiency, sluggish kinetics, and a reliance on catalysts for the oxygen reduction and evolution reactions (ORR/OER). In a superoxide battery, oxygen is also used as the cathodic active medium but is reduced only to superoxide (O2â¢-), the anion formed by adding an electron to a diatomic oxygen molecule. Therefore, O2/O2â¢- is a unique single-electron ORR/OER process. Since the introduction of K-O2 batteries by our group in 2013, superoxide batteries based on potassium superoxide (KO2) have attracted increasing interest as promising energy storage devices due to their significantly lower overpotentials and costs. We have selected potassium for building the superoxide battery because it is the lightest alkali metal cation to form the thermodynamically stable superoxide (KO2) product. This allows the battery to operate through the proposed facile one-electron redox process of O2/KO2. This strategy provides an elegant solution to the long-lasting kinetic challenge of ORR/OER in metal-oxygen batteries without using any electrocatalysts. Over the past five years, we have been focused on understanding the electrolyte chemistry, especially at the electrode/electrolyte interphase, and the electrolyte's stability in the presence of potassium metal and superoxide. In this Account, we examine our advances and understanding of the chemistry in superoxide batteries, with an emphasis on our systematic investigation of K-O2 batteries. We first introduce the K metal anode electrochemistry and its corrosion induced by electrolyte decomposition and oxygen crossover. Tuning the electrolyte composition to form a stable solid electrolyte interphase (SEI) is demonstrated to alleviate electrolyte decomposition and O2 cross-talk. We also analyze the nucleation and growth of KO2 in the oxygen electrode, as well its long-term stability. The electrochemical growth of KO2 on the cathode is correlated with the rate performance and capacity. Increasing the surface area and reducing the O2 diffusion pathway are identified as critical strategies to improve the rate performance and capacity. Li-O2 and Na-O2 batteries are further compared with the K-O2 chemistry regarding their pros and cons. Because only KO2 is thermodynamically stable at room temperature, K-O2 batteries offer reversible cathode reactions over the long-term while the counterparts undergo disproportionation. The parasitic reactions due to the reactivity of superoxide are discussed. With the trace side products quantified, the overall superoxide electrochemistry is highly reversible with an extended shelf life. Lastly, potential anode substitutes for K-O2 batteries are reviewed, including the K3Sb alloy and liquid Na-K alloy. We conclude with perspectives on the future development of the K metal anode interface, as well as the electrolyte and cathode materials to enable improved reversibility and maximized power capability. We hope this Account promotes further endeavors into the development of the K-O2 chemistry and related material technologies for superoxide battery research.
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Rechargeable superoxide (O2 - ) batteries have the potential to surpass current lithium-ion technology due to their high theoretical energy densities. The use of superoxides as an energy storage material is highly advantageous when compared to their close relatives, peroxides. This is due to enhanced reversibility of the 1-electron redox process. To efficiently stabilize superoxides, larger metal cations are required such as sodium and potassium. Therefore, the two most studied systems are sodium and potassium-oxygen batteries. Both batteries present unique advantages and challenges. In this minireview, we summarize the current research for each superoxide-based battery and offer perspective for further research.
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BACKGROUND The aim of this study was to analyze the differences in vaginal microecological factors and genital tract infections among pregnant women of different ages. MATERIAL AND METHODS This study included 751 pregnant women from West China Second University Hospital, Sichuan University, China, from January 2015 to April 2017. After gram staining, the vaginal microecological factors of these cases were observed, including vaginal cleanliness, lactobacillus number, bacterial density, flora diversity, dominant bacteria, pH, clue cells, Candida species, and Trichomonas vaginalis. RESULTS There was no significant difference in bacterial density, flora diversity, vaginal cleanliness, or lactobacillus number among pregnant women of different age groups. Of the 32.62% of pregnant women who had genital tract infections, the incidence of bacterial vaginosis, Candida albicans infection, non-albicans Candida infection, and T. vaginalis infection were 20.91%, 14.91%, 4.26%, and 1.73%, respectively. The amalgamative incidence of bacterial vaginosis was 9.19%. The incidence of non-albicans Candida infection in the optimum reproductive age group was higher than in the older age group (P=0.0433). The incidence of T. vaginalis infection in the younger age group was higher than in the optimum reproductive age group and higher than in the older age group (P=0.0010 and P=0.0041). CONCLUSIONS The microecological status of pregnant women was basically the same as that of normal women. The most frequent genital tract infection was bacterial vaginosis. While bacterial vaginosis is amalgamative with vulvovaginal candidiasis and T. vaginalis infection, there was no significant difference in vaginal microecological observations among pregnant women in different age groups except that the non-albicans Candida infection incidence in the optimum reproductive age group and the T. vaginalis infection incidence in the younger age group was higher than in the other groups.
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Infecções do Sistema Genital/microbiologia , Vagina/microbiologia , Vaginose Bacteriana/microbiologia , Adulto , Fatores Etários , Candidíase Vulvovaginal , China , Feminino , Humanos , Gravidez , Trichomonas vaginalisRESUMO
In superoxide batteries based on O2 /O2- redox chemistry, identifying an electrolyte to stabilize both the alkali metal and its superoxide remains challenging owing to their reactivity towards the electrolyte components. Bis(fluorosulfonyl)imide (FSI- ) has been recognized as a "magic anion" for passivating alkali metals. The KFSI-dimethoxyethane electrolyte passivates the potassium metal anode by cleavage of S-F bonds and the formation of a KF-rich solid-electrolyte interphase (SEI). However, the KFSI salt is chemically unstable owing to nucleophilic attack by superoxide and/or hydroxide species. On the other hand, potassium bis(trifluorosulfonyl)imide (KTFSI) is stable to KO2 , but results in mossy potassium deposits and irreversible plating and stripping. To circumvent this dilemma, we developed an artificial SEI for the metal anode and thus long-cycle-life K-O2 batteries. This study will guide the development of stable electrolytes and artificial SEIs for metal-O2 batteries.
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The rechargeable K-O2 battery is recognized as a promising energy storage solution owing to its large energy density, low overpotential, and high coulombic efficiency based on the single-electron redox chemistry of potassium superoxide. However, the reactivity and long-term stability of potassium superoxide remains ambiguous in K-O2 batteries. Parasitic reactions are explored and the use of ion chromatography to quantify trace amounts of side products is demonstrated. Both quantitative titrations and differential electrochemical mass spectrometry confirm the highly reversible single-electron transfer process, with 98 % capacity attributed to the formation and decomposition of KO2 . In contrast to the Na-O2 counterparts, remarkable shelf-life is demonstrated for K-O2 batteries owing to the thermodynamic and kinetic stability of KO2 , which prevents the spontaneous disproportionation to peroxide. This work sheds light on the reversible electrochemical process of K+ +e- +O2 âKO2 .
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Rechargeable potassium metal batteries have recently emerged as alternative energy storage devices beyond lithium-ion batteries. However, potassium metal anodes suffer from poor reversibility during plating and stripping processes due to their high reactivity and unstable solid electrolyte interphase (SEI). Herein, it is reported for the first time that a potassium bis(fluoroslufonyl)imide (KFSI)-dimethoxyethane (DME) electrolyte forms a uniform SEI on the surface of potassium enabling reversible potassium plating/stripping electrochemistry with high efficiency (â¼99%) at ambient temperature. Furthermore, the superconcentrated KFSI-DME electrolyte shows excellent electrochemical stability up to 5 V (vs K/K+) which enables good compatibility with high-voltage cathodes. Full cells with potassium Prussian blue cathodes are demonstrated. Our work contributes toward the understanding of potassium plating/stripping electrochemistry and paves the way for the development of potassium metal battery technologies.
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Alkali metal-oxygen batteries are of great interests for energy storage because of their unparalleled theoretical energy densities. Particularly attractive is the emerging Na-O2 battery because of the formation of superoxide as the discharge product. Dimethyl sulfoxide (DMSO) is a promising solvent for this battery but its instability towards Na makes it impractical in the Na-O2 battery. Herein we report the enhanced stability of Na in DMSO solutions containing concentrated sodium trifluoromethanesulfonimide (NaTFSI) salts (>3â mol kg-1 ). Raman spectra of NaTFSI/DMSO electrolytes and abâ initio molecular dynamics simulation reveal the Na+ solvation number in DMSO and the formation of Na(DMSO)3 (TFSI)-like solvation structure. The majority of DMSO molecules solvating Na+ in concentrated solutions reduces the available free DMSO molecules that can react with Na and renders the TFSI anion decomposition, which protects Na from reacting with the electrolyte. Using these concentrated electrolytes, Na-O2 batteries can be cycled forming sodium superoxide (NaO2 ) as the sole discharge product with improved long cycle life, highlighting the beneficial role of concentrated electrolytes for Na-based batteries.
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This meta-analysis was conducted to assess the association of Megsin 2093C/T, 2180C/T, C25663G gene polymorphism with the risk of IgA nephropathy (IgAN). The association literatures were identified from PubMed, Embase, Cochrane Library and CBM-disc (China Biological Medicine Database) on 1 January 2014, and eligible reports were recruited and synthesized. Seven eligible reports were recruited into this meta-analysis for the association of Megsin 2093C/T, 2180C/T, C25663G gene polymorphism with IgAN risk. In this meta-analysis, the association of Megsin 2093C/T TT genotype with IgAN risk in Asians was found. Interestingly, Megsin C25663G G allele and GG genotype were associated with the risk of IgAN in Asian population. However, Megsin 2180C/T gene polymorphism was not associated with IgAN risk in Asians. In conclusion, Megsin 2093C/T TT genotype, and C25663G G allele and GG genotype were associated with the risk of IgAN in Asian population. However, more studies should be performed in the future to confirm this association.
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Estudos de Associação Genética , Predisposição Genética para Doença , Glomerulonefrite por IGA/genética , Serpinas/genética , Alelos , Povo Asiático/genética , Genótipo , Glomerulonefrite por IGA/patologia , Humanos , Polimorfismo de Nucleotídeo ÚnicoRESUMO
The generic diagnostic characters of Paracercopis (Hemiptera: Cercopoidea: Cercopidae) are redefined and the autapomorphies are proposed to support the monophyly of the genus. Scanning electron micrographs of antennal sensilla and sensilla on rostral apex of P. seminigra (Melichar, 1902) are provided for the first time. A checklist together with new distribution records and key to the species of the genus are provided. Host plant associations of Paracercopis species are reported for the first time. Paracercopis unicolor Liang, Zhang & Xiao, sp. nov., representing the seventh and largest species of the genus is described from Hubei Province in south central China.
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Hemípteros , Animais , China , Microscopia , SensilasRESUMO
Objective: This study aims to prove that the de novo variants in MAST4 gene are associated with neurodevelopmental disorders (NDD) with developmental delay (DD) and infantile spasm (IS) and to determine the genotype-phenotype correlations. Methods: Trio-based exome sequencing (ES) was performed on the four families enrolled in this study. We collected and systematically reviewed the four probands' clinical data, magnetic resonance images (MRI), and electroencephalography (EEG). We also carried out bioinformatics analysis by integrating published exome/genome sequencing data and human brain transcriptomic data. Results: We described four patients whose median age of seizure onset was 5 months. The primary manifestation was infantile spasms with typical hypsarrhythmia on EEG. Developmental delays or intellectual disabilities varied among the four individuals. Three de novo missense variants in MAST4 gene were identified from four families, including chr5:66438324 (c.2693T > C: p.Ile898Thr) z, chr5:66459419 (c.4412C > T: p.Thr1471Ile), and chr5:66462662 (c.7655C > G:p.Ser2552Trp). The missense variant p.Ile898Thr is mapped to the AGC-kinase C-terminal with phosphatase activity. The other variant p.Ser2552Trp is located in a phosphoserine-modified residue which may affect cell membrane stability and signal transduction. Besides, the variant p.Thr1471Ile is a recurrent site screened out in two unrelated patients. Compared to private mutations (found only in a single family or a small population) of MAST4 in the gnomAD non-neuro subset, all de novo variants were predicted to be damaging or probably damaging through different bioinformatic analyses. Significantly higher CADD scores of the variant p.Thr1471Ile indicate more deleteriousness of the recurrent site. And the affected amino acids are highly conserved across multiple species. According to the Brainspan Atlas database, MAST4 is expressed primarily in the mediodorsal nucleus of the thalamus and medial prefrontal cortex during the prenatal period, potentially contributing to embryonic brain development. Conclusion: Our results revealed that the variants of MAST4 gene might lead to neurodevelopmental disorders with developmental delay and infantile spasm. Thus, MAST4 variants should be considered the potential candidate gene in patients with neurodevelopmental disorders clinically marked by infantile spasms.
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Objective: The aim of our study was to investigate the role of three-dimensional arterial spin labeling (3D-ASL) perfusion in the diagnosis and follow-up of children with viral encephalitis. Methods: Twenty-five consecutive children with viral encephalitis and 25 healthy children of similar age were recruited for the study between 2017 and 2020. Conventional magnetic resonance imaging and 3D-ASL were performed for all subjects, and a color map of cerebral blood flow (CBF) was generated. The images were classified into three groups depending on the time points at which the magnetic resonance examinations were conducted, including the initial admission scan, inpatient review, and follow-up review. Clinical, neuroradiologic, and follow-up features were studied.The CBF values of the lesion area in the diseased brain group and the bilateral temporal cortex in the control group were measured and the differences between the two groups were compared. Results: Perfusion was significantly increased in the acute cerebral disease group, and CBF and normalized cerebral blood flow(nCBF) were significantly higher than in the control group (124.5 vs 70.3 mL/100 g/min, 2.85 vs 1.36). Follow-up revealed that brain tissue perfusion in the lesion area of nine children decreased gradually after treatment, as their condition improved. Conclusion: Brain tissue perfusion in children with viral encephalitis increases during the acute stage and decreases when the condition improves. 3D-ASL provides a reference for diagnosis and follow-up of viral encephalitis in children.
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OBJECTIVES: Over the past decades, mitochondrial disease classification has been mainly based on molecular defects. We aim to analyze phenotype-genotype correlation of mitochondrial disorders according to molecular classification. METHODS: In this cohort study, we identified 135 individuals diagnosed with mitochondrial disorders, and all patients were divided into four subgroups based on molecular functions: the Respiratory Chain group (including subunits and assembly proteins in the respiratory chain), the Protein Synthesis group (including mitochondrial RNA metabolism, mitochondrial translation), the mitcohindrial DNA (mtDNA) Replication group, and the Others group (including cofactors, homeostasis, substrates, and inhibitors). RESULTS: We found that in China, patients with the mtDNA variant constituted a large percentage of mitochondrial disease and were associated with a male preponderance in the Respiratory Chain group, whereas those in the Protein Synthesis group showed a relatively later onset and higher serum lactate level. In contrast, patients with nuclear DNA variants were younger at onset, with no specific lactate or cranial imaging features, especially in the Others group, which contained several mitochondrial diseases with corresponding treatment. CONCLUSION: The mtDNA was recommended to detect first in patients with typical lactate and cranial imaging features. A broader consideration and detection are necessary for a better prognosis in an atypical patient.
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Doenças Mitocondriais , Estudos de Coortes , DNA Mitocondrial/genética , Genótipo , Humanos , Lactatos , Masculino , Doenças Mitocondriais/genética , Mutação , FenótipoRESUMO
Wetland plant diversity reveals key aspects of the environmental and ecological status of wetlands and plays an important role in the maintenance of ecosystem functions and services. The present study surveyed the plant species diversity of 22 wetlands in Beijing and, combining field data and remote sensing data, evaluated ecological qualities of the wetlands based on indicators of habitat status, plant species diversity, typical wetland plant community, and status of alien plant invasion. A total of 338 species (including varieties and subspecies) belonging to 220 genera of 74 families of wetland plants were recorded in Beijing. The wetlands could be divided into four types according to plant species composition, which showed a spatial gradient pattern from urban core to ecological conservation areas. Wetlands located in ecological conservation areas were of better ecological quality than those located in urban core and suburban plain areas. The value of ecological quality index (EQI) for Baihe River, Huaishahe-Huaijiuhe River, Jinniu Lake, Hanshiqiao Wetland, and Yongdinghe River (Mentougou Section) were in the top five, whereas the value of EQI for river-type wetlands located in suburban plain areas were relatively lower. The results of the canonical correspondence analysis indicated that the most critical factors affecting wetland plant species composition were the distance to the nearest road, water total nitrogen, and area percentage of ecological green land. Furthermore, the results of the canonical correlation analysis indicated that the most critical factors affecting wetland plant species diversity were the area percentage of construction land and water total organic carbon. Human activity intensity and water quality have a strong impact on the plant diversity and ecological quality of wetlands in Beijing. It is suggested that efforts should be made to strengthen the ecological protection and restoration of the river-type wetlands located in suburban plain areas.
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Ecossistema , Áreas Alagadas , Pequim , China , Conservação dos Recursos Naturais/métodos , Humanos , Plantas , RiosRESUMO
The comprehensive evaluation of terrestrial biodiversity is a key basic work for biodiversity protection. Clarifying the status, trend, and driving factors of biodiversity is premise and necessary for formulating policies and measures of biodiversity protection. At present, there is no unified indicator system for the comprehensive assessment of terrestrial biodiversity in China. We constructed a comprehensive assessment indicator system of terrestrial biodiversity in China, by combining the Aichi biodiversity targets of the Convention on Biological Diversity and the sustainable development goals of the United Nations, learning from the development trend of biodiversity assessment in the world, and following the Pressure-State-Response framework. A total of 22 indicators were obtained, including eight status indicators, seven pressure indicators, and seven response indicators. The correlation and accessibility of the indicators were analyzed. These indicators could be applied to not only an independent assessment for biodiversity status, threatened and protection effectiveness, but also for the comprehensive assessment of terrestrial biodiversity to optimize and adjust priority protection areas and protection measures. Our results would provide a technical support for calculating green GDP and formulating regional ecological compensation policies.
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Biodiversidade , Conservação dos Recursos Naturais , China , Desenvolvimento SustentávelRESUMO
Objective: To prove microtubule associated serine/threonine kinase 3 (MAST3) gene is associated with neurodevelopmental diseases (NDD) and the genotype-phenotype correlation. Methods: Trio exome sequencing (trio ES) was performed on four NDD trios. Bioinformatic analysis was conducted based on large-scale genome sequencing data and human brain transcriptomic data. Further in vivo zebrafish studies were performed. Results: In our study, we identified four de novo MAST3 variants (NM_015016.1: c.302C > T:p.Ser101Phe; c.311C > T:p.Ser104Leu; c.1543G > A:p.Gly515Ser; and c.1547T > C:p.Leu516Pro) in four patients with developmental and epileptic encephalopathy (DEE) separately. Clinical heterogeneities were observed in patients carrying variants in domain of unknown function (DUF) and serine-threonine kinase (STK) domain separately. Using the published large-scale exome sequencing data, higher CADD scores of missense variants in DUF domain were found in NDD cohort compared with gnomAD database. In addition, we obtained an excess of missense variants in DUF domain when compared autistic spectrum disorder (ASD) cohort with gnomAD database, similarly an excess of missense variants in STK domain when compared DEE cohort with gnomAD database. Based on Brainspan datasets, we showed that MAST3 expression was significantly upregulated in ASD and DEE-related brain regions and was functionally linked with DEE genes. In zebrafish model, abnormal morphology of central nervous system was observed in mast3a/b crispants. Conclusion: Our results support the possibility that MAST3 is a novel gene associated with NDD which could expand the genetic spectrum for NDD. The genotype-phenotype correlation may contribute to future genetic counseling.
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The beet armyworm, Spodoptera exigua (Hübner) (Lepidoptera: Noctuidae), is an important pest of numerous crops, and it causes economic damage in China. Use of secondary metabolic compounds in plants is an important method used to control this insect as a part of integrated pest management. In this study the growth, development, and food utilization of three successive generations of S. exigua fed on three cotton gossypol cultivars were examined. Significantly longer larval life-spans were observed in S. exigua fed on high gossypol cultivar M9101 compared with those fed on two low gossypol cultivars, ZMS13 and HZ401. The pupal weight of the first generation was significantly lower than that of the latter two generations fed on ZMS13 group. Significantly lower fecundity was observed in the second and third generations of S. exigua fed on M9101 compared with S. exigua fed on ZMS13 and HZ401. The efficiency of conversion was significantly higher in the first and third generations fed on HZ401 compared with those fed on ZMS13 and M9101. A significantly lower relative growth rate was observed in the three successive generations fed on M9101 compared with those fed on ZMS13 and HZ401. Cotton cultivars significantly affected the growth, development, and food utilization indices of S. exigua, except for frass and approximate digestibility. Development of S. exigua was significantly affected by relative consumption rate and efficiency of conversion of ingested food, but not by relative growth rate or approximate digestibility, suggesting that diet-utilization efficiency was different based on food quality and generation. Measuring the development and food utilization of S. exigua at the individual and population levels over more than one generation provided more meaningful predictions of long-term population dynamics.