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In recent years, the problem of the multistability of neural networks has been studied extensively. From the research results obtained, the number of stable equilibrium points depends only on a power form of the network dimension. However, in practical applications, the number of stable equilibrium points needed is often not expressed in power form. Therefore, can we determine an appropriate activation function so that the neural network has exactly the required number of stable equilibrium points? This paper provides a new way to study this problem by means of an iteration method. The necessary activation function is constructed by an appropriate iteration method, and the neural network model is established. Based on the mathematical theories of matrix analysis and functional analysis and on the inequality method, the number and distribution of the network equilibrium points are determined by dividing the state space reasonably, and some multistability criteria that are related to the number of iterations and are independent of the network dimension are established., Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2024 Elsevier Ltd. All rights reserved.)

For a long time, the decline in lung function has been regarded as a potential factor associated with the risk of osteoporosis (OP). Although several observational studies have investigated the relationship between lung function and OP, their conclusions have been inconsistent. Given that Mendelian randomization (MR) studies can help reduce the interference of confounding factors on outcomes, we adopted this approach to explore the causal relationship between lung function and OP at the genetic level. To investigate the potential causality between lung function (FVC, FEV1, FEV1/FVC, PEF) and OP, we conducted a MR analysis employing three approaches: inverse variance weighted (IVW), MR-Egger, and weighted median. We used Cochran's Q test to detect potential heterogeneity, MR-Egger regression to evaluate directional pleiotropy, and the MR-PRESSO method to evaluate horizontal pleiotropy. In addition, we used MR-PRESSO and MR radial methods to exclude SNPs exhibiting pleiotropic outliers. Upon identification of potential outliers, we removed them and subsequently ran MR analysis again to assess the reliability of our findings. The MR analysis suggested that there was no causal effect of lung function (FVC, PEF, FEV1/FVC, FEV1) on OP, which is consistent with the. results after excluding potential outliers using MR-PRESSO and MR radial. methods. Sensitivity analysis confirmed the reliability and consistency of these. results. The study concluded that there is no causal link between lung function and OP. The association found in observational studies might be attributable to shared risk factors., (© 2024. The Author(s).)

Analogical reasoning is central to thought and learning. However, previous neuroscience studies have focused mainly on neural substrates for visuospatial and semantic analogies. There has not yet been research on the neural correlates of analogical reasoning on syntactic patterns generated by the syntactic rules, a key feature of human language faculty. The present investigation took an initial step to address this paucity. Twenty-four participants, whose brain activity was monitored by fMRI, engaged in first-order and second-order relational judgments of syntactic patterns as well as simple and complex working memory tasks. After scanning, participants rated the difficulty of each step during analogical reasoning; these ratings were related to signal intensities in activated regions of interest using Spearman correlation analyses. After prior research, differences in activation levels during second-order and first-order relational judgments were taken as evidence of analogical reasoning. These analyses showed that analogical reasoning on syntactic patterns recruited brain regions consistent with those supporting visuospatial and semantic analogies, including the anterior and posterior parts of the left middle frontal gyrus, anatomically corresponding to the left rostrolateral pFC and the left dorsolateral pFC. The correlation results further revealed that the posterior middle frontal gyrus might be involved in analogical access and mapping with syntactic patterns. Our study is the first to investigate the process of analogical reasoning on syntactic patterns at the neurobiological level and provide evidence of the specific functional roles of related regions during subprocesses of analogical reasoning., (© 2024 Massachusetts Institute of Technology. Published under a Creative Commons Attribution 4.0 International (CC BY 4.0) license.)

The present work is aimed at studying how spatially periodic modulations of the refractive index of the medium, i.e., laser-induced gratings (LIGs), generated in a gas mixture containing methane (CH 4 ) by nanosecond pulses of resonant mid-infrared laser radiation, can be used to measure various gas parameters. It is investigated to what extent the temporal profiles of the LIG signals, recorded as the power of the diffracted by LIGs continuous wave probe radiation, are specific to the composition, pressure, and temperature of a selected buffer gas. This specificity is illustrated by the LIG signal profiles recorded in the experiments in different gas mixtures under various conditions. Experimental data show that large LIG signals can be obtained even in mixtures with CH 4 concentrations as low as ∼100 parts per million due to the strong absorption of the excitation light and subsequent rapid, highly exothermic, and partner-dependent collisional energy exchange of the laser-excited molecules with the environment. These two factors ensure high LIG generation efficiency by a small number of CH 4 molecules and high sensitivity of signal strength and profile to variations of gas parameters., Competing Interests: Declaration of Conflicting InterestsThe authors declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

Diagnosing primary Sjögren's syndrome (pSS) is difficult due to clinical heterogeneity and the absence of non-invasive specific biomarkers. To develop non-invasive pSS diagnosis methods that integrate classic clinical indexes, major salivary gland ultrasonography (SGUS), and gene expression profiles shared by labial gland and peripheral blood, we conducted a study on a cohort of 358 subjects. We identified differentially expressed genes (DEGs) in glands and blood that were enriched in defense response to virus and type I interferon production pathways. Four upregulated DEGs common in glands and blood were identified as hub genes based on the protein-protein interaction networks. A random forest model was trained using features, including SGUS, anti-SSA/Ro60, keratoconjunctivitis sicca tests, and gene expression levels of MX1 and RSAD2. The model achieved comparable pSS diagnosis accuracy to the golden standard method based on labial gland biopsy. Our findings implicate this novel model as a promising diagnosis technique of pSS., (Copyright © 2023 Elsevier Inc. All rights reserved.)

In many practical applications, it is difficult or impossible to obtain the exact solution of the mathematical model due to the limitations of solving methods and the complexity of the neural network itself. A natural problem is given as follows: does the exact solution of quaternion-valued neural networks (QVNNs) exist when successively improved approximate solutions can be obtained? Fortunately, the Hyers-Ulam stability happens to be one of the important means to deal with this problem. In this article, the issue of Hyers-Ulam stability of QVNNs with time-varying delays is addressed. First, inspired by the Hyers-Ulam stability of general functional equations, the concept of the Hyers-Ulam stability of QVNNs is proposed along with the QVNNs model. Then, by utilizing the successive approximation method, both delay-dependent and delay-independent Hyers-Ulam stability criteria are obtained to ensure the Hyers-Ulam stability of the QVNNs considered. Finally, a simulation example is given to verify the effectiveness of the derived results.

Visualization of the reaction zone of flames using CH radicals as markers is restricted by the low concentration of CH in fuel-lean conditions. To address this, methyl radicals ( C H 3 ) are employed as a substitution of CH in premixed methane/air flames. A pump-probe method was adopted with the pump laser photolyzing C H 3 and the probe laser detecting the photolyzed CH ( X 2 Π ) fragments. Laser excitation scans were performed to ensure that the fluorescence detected was from CH only. Visualization of the reaction zone of flames was accomplished by a C H 3 photofragmentation laser-induced fluorescence technique in fuel-lean conditions (the equivalence ratio of 0.4), where CH planar laser-induced fluorescence did not work in both laminar and turbulent jet flames. The proposed pump-probe method of C H 3 can be used to visualize the reaction zone of hydrocarbon combustion under both fuel-lean and fuel-rich conditions with a superior signal-to-noise ratio.

Periodontitis is an inflammatory disease that is characterized by progressive destruction of the periodontium and causes tooth loss in adults. Periodontitis is known to be associated with dysbiosis of the oral microflora, which is often linked to various diseases. However, the complexity of plaque microbial communities of periodontitis, antibiotic resistance, and enhanced virulence make this disease difficult to treat. In this study, using metagenomic shotgun sequencing, we investigated the etiology, antibiotic resistance genes (ARGs), and virulence genes (VirGs) of periodontitis. We revealed a significant shift in the composition of oral microbiota as well as several functional pathways that were represented significantly more abundantly in periodontitis patients than in controls. In addition, we observed several positively selected ARGs and VirGs with the Ka/Ks ratio > 1 by analyzing our data and a previous periodontitis dataset, indicating that ARGs and VirGs in oral microbiota may be subjected to positive selection. Moreover, 5 of 12 positively selected ARGs and VirGs in periodontitis patients were found in the genomes of respiratory tract pathogens. Of note, 91.8% of the background VirGs with at least one non-synonymous single-nucleotide polymorphism for natural selection were also from respiratory tract pathogens. These observations suggest a potential association between periodontitis and respiratory infection at the gene level. Our study enriches the knowledge of pathogens and functional pathways as well as the positive selection of antibiotic resistance and pathogen virulence in periodontitis patients, and provides evidence at the gene level for an association between periodontitis and respiratory infection., (Copyright © 2021 Beijing Institute of Genomics. Published by Elsevier B.V. All rights reserved.)

In school education, teaching-learning interaction is deemed as a core process in the classroom. The fundamental neural basis underlying teaching-learning interaction is proposed to be essential for tuning learning outcomes. However, the neural basis of this process as well as the relationship between the neural dynamics and the learning outcomes are largely unclear. With non-invasive technologies such as fNIRS (functional near-infrared spectroscopy), hyperscanning techniques have been developed since the last decade and been applied to the field of educational neuroscience for simultaneous multi-brain scanning. Hyperscanning studies suggest that the interpersonal neural synchronization (INS) during teaching-learning interaction might be an ideal neural biomarker for predicting learning outcomes. To systematically evaluate such a relationship, this meta-analysis ran on a random-effects model on 16 studies with 23 independent samples (effect sizes). Further moderator analyses were also performed to examine the potential influences of the style, mode, content, and the assessment method of learning outcomes. The random-effects modeling results confirmed a robust positive correlation between INS and learning outcomes. Subsequent analyses revealed that such relationship was mainly affected by both interaction style and mode. Therefore, the present meta-analysis provided a confirmatory neurocognitive foundation for teaching-learning interaction, as well as its relation to the learning outcomes, consolidated future learning and teaching studies in various disciplines including second language education with a firm methodological reference., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2022 Zhang, Xu, Li, Chen and Feng.)

Hydrogen chloride (HCl) monitoring during combustion/gasification of biomass fuels and municipal solid waste, such as polyvinyl chloride (PVC) and food residues, is demanded to avoid the adverse effect of HCl to furnace operation and to improve the quality of the gas products. Infrared tunable diode laser absorption spectroscopy (IR-TDLAS) is a feasible nonintrusive in-situ method for HCl measurements in harsh environments. In the present work, the measurement was performed using the R(3) line of the ν 2 vibrational band of HCl at 5739.25 cm -1 (1742.4 nm). Water vapor is ubiquitous in combustion/gasification environments, and its spectral interference is one of the most common challenges for IR-TDLAS. Spectral analysis based on the current well-known databases was found to be insufficient to achieve an accurate measurement. The lack of accurate temperature-dependent water spectra can introduce thousands parts per million (ppm) HCl overestimation. For the first time, accurate spectroscopic data of temperature-dependent water spectra near 5739.3 cm -1 were obtained based on a systematic experimental investigation of the hot water lines in a well-controlled, hot flue gas with a temperature varying from 1100 to 1950 K. With the accurate knowledge of hot water interference, the HCl TDLAS system can achieve a detection limit of about 100 ppm⋅m at around 1500 K, and simultaneously the gas temperature can be derived. The technique was applied to measure the temporally resolved HCl release and local temperature over burning PVC particles in hot flue gas at 1790 K.

We report the observation of photoluminescence emission from airborne gold, silver, and copper nanoparticles. A continuous wave 532 nm laser was employed for excitation. Photoluminescence from gold nanoparticles carried in a nitrogen gas flow was both spectrally resolved and directly imaged in situ using an intensified charge-coupled device camera. The simultaneously detected Raman signal from the nitrogen molecules enables quantitative estimation of the photoluminescence quantum yield of the gold nanoparticles. Photoluminescence from metal nanoparticles carried in a gas flow provides a potential tool for operando imaging of plasmonic metal nanoparticles in aerosol reactions.

In this work, the combustion behavior of seeded iron particles (d 50  = 70 µm) in a laminar diffusion flame was studied in a modified Mckenna flat-flame burner. Two high speed cameras in stereo configuration allowed 3D position and 3D velocity measurements of burning iron particles as well as 3D evaluation of particle microexplosions. Microexplosive processes are important since it can affect both combustion stability and formation of product components. The observed microexplosions happened before particle extinction resulting in change of trajectories, velocities, radiation intensities and fragmentation into smaller particles. It was observed for the first time that fragments of these microexplosions tend to produce planar structures. A frequent release phenomenon was observed during the iron particle combustion using magnified thermal radiation imaging and high-speed shadowgraphy. This release phenomenon was indirectly confirmed with scanning electron microscopy of combust products, revealing multiple cracked particle shells and hollow structures. Black body radiation characteristics was observed indicating the release being in condensed phase and emission spectroscopy identified FeO as intermediate species during combustion. The observed release is believed to mainly consist of iron-oxide nanoparticles formed in the homogenous reaction between vapor iron and oxidizers.

Ammonia (NH 3 ) is regarded as an important nitrogen oxides (NOx) precursor and also as an effective reductant for NOx removal in energy utilization through combustion, and it has recently become an attractive non-carbon alternative fuel. To have a better understanding of thermochemical properties of NH 3 , accurate in situ detection of NH 3 in high temperature environments is desirable. Ultraviolet (UV) absorption spectroscopy is a feasible technique. To achieve quantitative measurements, spectrally resolved UV absorption cross-sections of NH 3 in hot gas environments at different temperatures from 295 K to 590 K were experimentally measured for the first time. Based on the experimental results, vibrational constants of NH 3 were determined and used for the calculation of the absorption cross-section of NH 3 at high temperatures above 590 K using the PGOPHER software. The investigated UV spectra covered the range of wavelengths from 190 nm to 230 nm, where spectral structures of the A ∼   1 A ″ 2 X ∼   1 A ' 1 transition of NH 3 in the umbrella bending mode, v 2 , were recognized. The absorption cross-section was found to decrease at higher temperatures. For example, the absorption cross-section peak of the (6, 0) vibrational band of NH 3 decreases from ∼2 × 10 -17 to ∼0.5 × 10 -17  cm 2 /molecule with the increase of temperature from 295 K to 1570 K. Using the obtained absorption cross-section, in situ nonintrusive quantification of NH 3 in different hot gas environments was achieved with a detection limit varying from below 10 parts per million (ppm) to around 200 ppm as temperature increased from 295 K to 1570 K. The quantitative measurement was applied to an experimental investigation of NH 3 combustion process. The concentrations of NH 3 and nitric oxide (NO) in the post flame zone of NH 3 -methane (CH 4 )-air premixed flames at different equivalence ratios were measured.

Laser-induced grating spectroscopy (LIGS) is for the first time explored in a configuration based on the crossing of two focused femtosecond (fs) laser pulses (800-nm wavelength) and a focused continuous-wave (cw) laser beam (532-nm wavelength). A thermal grating was formed by multi-photon absorption of the fs-laser pulses by [Formula: see text] with a pulse energy around 700 [Formula: see text]J ([Formula: see text] 45 TW/[Formula: see text]). The feasibility of this LIGS configuration was investigated for thermometry in heated nitrogen gas flows. The temperature was varied from room temperature up to 750 K, producing strong single-shot LIGS signals. A model based on the solution of the linearized hydrodynamic equations was used to extract temperature information from single-shot experimental data, and the results show excellent agreement with the thermocouple measurements. Furthermore, the fluorescence produced by the fs-laser pulses was investigated. This study indicates an 8-photon absorption pathway for [Formula: see text] in order to reach the [Formula: see text] state from the ground state, and 8 + 5 photon excitation to reach the [Formula: see text] state of the [Formula: see text] ion. At pulse energies higher than 1 mJ, the LIGS signal was disturbed due to the generation of plasma. Additionally, measurements in argon gas and air were performed, where the LIGS signal for argon shows lower intensity compared to air and [Formula: see text].

This paper presents a joint experimental and numerical study on premixed laminar ammonia/methane/air flames, aiming to characterize the flame structures and NO formation and determine the laminar flame speed under different pressure, equivalence ratio, and ammonia fraction in the fuel. The experiments were carried out in a lab-scale pressurized vessel with a Bunsen burner installed with a concentric co-flow of air. Measurements of NH and NO distributions in the flames were made using planar laser-induced fluorescence. A novel method was presented for determination of the laminar flame speed from Bunsen-burner flame measurements, which takes into account the non-uniform flow in the unburned mixture and local flame stretch. NH profiles were chosen as flame front markers. Direct numerical simulation of the flames and one-dimensional chemical kinetic modeling were performed to enhance the understanding of flame structures and evaluate three chemical kinetic mechanisms recently reported in the literature. The stoichiometric and fuel-rich flames exhibit a dual-flame structure, with an inner premixed flame and an outer diffusion flame. The two flames interact, which affects the NO emissions. The impact of the diffusion flame on the laminar flame speed of the inner premixed flame is however minor. At elevated pressures or higher ammonia/methane ratios, the emission of NO is suppressed as a result of the reduced radical mass fraction and promoted NO reduction reactions. It is found that the laminar flame speed measured in the present experiments can be captured by the investigated mechanisms, but quantitative predictions of the NO distribution require further model development., Competing Interests: The authors declare no competing financial interest., (© 2021 The Authors. Published by American Chemical Society.)

Neurodevelopmental disorders, including autism spectrum disorder (ASD), intellectual disability (ID), developmental disorders (DD) and epileptic encephalopathy (EE), have a strong clinical comorbidity, which indicates a common genetic etiology across various disorders. However, the underlying genetic mechanisms of comorbidity and specificity remain unknown across neurodevelopmental disorders. Based on de novo mutations, we compared systematically the functional characteristics between shared and unique genes under these disorders, as well as the spatiotemporal trajectory of development in brain and common molecular pathways of all shared genes. We observed that shared genes present more constrained against functional rare genetic variation, and harbor more pathogenic rare variants than do unique genes in each disorder. Furthermore, 71 shared genes formed two clusters related to synaptic transmission, transcription regulation and chromatin regulator. Particularly, we also found that two core genes STXBP1 and SCN2A, that were shared by the four neurodevelopmental disorders showed prominent pleiotropy. Our findings shed light on the shared and specific patterns across neurodevelopmental disorders and will enable us to further comprehend the etiology and provide valuable information for the diagnosis of neurodevelopmental disorders., (© 2020 Wiley Periodicals LLC.)

It has previously been demonstrated that the ratio of the degenerate four wave mixing signal from two hot water line groups near 3231 cm -1 can be used for seedless flame temperature measurements. This paper presents an investigation of the impact of saturation effects on the measured signal intensity from each line group, as well as an estimation of the accuracy of the method. The saturation effects observed here would result in a large systematic error if they are not taken into account when using the degenerate four-wave mixing intensity of these water line groups to calculate the flame temperature.

N 6 -methyladenosine (m 6 A) plays important roles in regulating messenger RNA processing. Despite rapid progress in this field, little is known about the genetic determinants of m 6 A modification and their role in common diseases. In this study, we mapped the quantitative trait loci (QTLs) of m 6 A peaks in 60 Yoruba (YRI) lymphoblastoid cell lines. We found that m 6 A QTLs are largely independent of expression and splicing QTLs and are enriched with binding sites of RNA-binding proteins, RNA structure-changing variants and transcriptional features. Joint analysis of the QTLs of m 6 A and related molecular traits suggests that the downstream effects of m 6 A are heterogeneous and context dependent. We identified proteins that mediate m 6 A effects on translation. Through integration with data from genome-wide association studies, we show that m 6 A QTLs contribute to the heritability of various immune and blood-related traits at levels comparable to splicing QTLs and roughly half of expression QTLs. By leveraging m 6 A QTLs in a transcriptome-wide association study framework, we identified putative risk genes of these traits.

Measurement of acoustic waves from laser-induced breakdown has been developed as gas thermometry in combustion atmospheres. In the measurement, two laser-induced breakdown spots are generated and the local gas temperature between these two spots is determined through the measurement of the sound speed between them. In the previous study, it was found that the local gas breakdown can introduce notable system uncertainty, about 5% to the measured temperature. To eliminate the interference, in present work, a new measurement procedure was proposed, where two individual laser pulses with optimized firing order and delay time were employed. With the new measurement procedure, the system uncertainty caused by local gas breakdown can be largely avoided and the temporal and spatial resolutions can reach up to 0.5 ms and 10 mm, respectively. The improved thermometry, dual-laser-induced breakdown thermometry (DLIBT), was applied to measure temperatures of hot flue gases provided by a multijet burner. The measured temperatures covering the range between 1000 K and 2000 K were compared with the ones accurately obtained through the two-line atomic fluorescence (TLAF) thermometry with a measurement uncertainty of ~3%, and a very good agreement was obtained.

In this work, fipronil was encapsulated within ethanediamine-modified carboxymethylcellulose (ACMC) to prepare an efficient and environmentally safe pesticide formulation (ACMCF). The chemical structure, morphology, foliar adhesion, bioactivity, and soil mobility of ACMCF were also systematically investigated. Results demonstrated that fipronil was encapsulated to form microcapsules successfully. Compared with the traditional fipronil emulsion (FE), ACMCF had a relatively high retention rate on cucumber and peanut leaves. The acute contact toxicity of ACMCF (LD 50 = 0.151 μg a.i./bee) toward Apis mellifera was far lower than that of FE (LD 50 = 0.00204 μg a.i./bee). Biological activity surveys confirmed that ACMCF has insecticidal ability against Plutella xylostella similar to that of FE. Moreover, the leaching and migration properties of ACMCF in three different kinds soils were weaker than those of FE. These results imply that ACMCF has promising application potential in increasing the effective utilization of fipronil and reducing risk to non-target organisms and the environment., (Copyright © 2019 Elsevier B.V. All rights reserved.)

Purpose: Elucidating the genetic architecture underlying autism spectrum disorder (ASD) will aid in the understanding of its genetic etiology and clinical diagnosis., Methods: A comprehensive set of coding de novo variants (DNVs) from 4504 trios with ASD and 3012 control/sibling trios from several large-scale sequencing studies were collected and combined. Multiple in-depth analyses including DNVs burden, clinical phenotypes, and functional networks underlying the combined data set were used to evaluate the nonrandom occurrence of multiple extreme DNVs (loss-of-function and damaging missense variants) in the same patients., Results: We observed a significant excess of multiple extreme DNVs among patients with ASD compared with controls. Meanwhile, patients with ASD carrying 2+ extreme DNVs had significantly lower IQs than patients carrying 0 or 1 DNV. Moreover, much closer functional connectivity than expected was observed among 2 or more genes with extreme DNVs from the same individuals. In particular, we identified 56 key genes as more confident ASD genes compared with other known ASD genes. In addition, we detected 23 new ASD candidate genes with recurrent DNVs, including VIP, ZWILCH, MSL2, LRRC4, and CAPRIN1., Conclusions: Our findings present compelling statistical evidence supporting an oligogenic model and provide new insights into the genetic architecture of ASD.

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

Ammonia (NH 3 ) is a sustainable fuel with excellent emission characteristics. Hence, it is important to develop diagnostic techniques for NH 3 combustion. In this paper, femtosecond laser-induced plasma spectroscopy (FLIPS) was performed in premixed NH 3 /air flames. The plasma emission spectra induced by the femtosecond laser in the flame and the chemiluminescence spectra of the flame itself were both measured. Through calibration, we found that the spectral intensity ratio of NH (336  nm)/N 2 (337 nm) could be used for equivalence ratio measurements in NH 3 combustion flow fields. This work is the first attempt at using a femtosecond laser-based technique for NH 3 combustion diagnostics.

Spectrally resolved ultraviolet (UV) absorption cross sections of SO 2 in combustion environments at temperatures from 1120 to 1950 K were measured for the first time in well-controlled conditions through applying broad band UV absorption spectroscopy in specially designed one-dimensional laminar flat flames. The temperature was observed to have a significant effect on the absorption cross-section profiles at wavelength shorter than 260 nm, while at the longer wavelength side, the absorption cross-section profiles have much less dependence on temperature. The absorption cross section at 277.8 nm with a value of 0.68 × 10 -18 cm 2 /molecule was suggested for the evaluation of the SO 2 concentration because of the weak dependence on temperature. To make spatially resolved measurements, laser-induced fluorescence (LIF) of SO 2 excited by a 266 nm laser was investigated. Spectrally resolved LIF signal was analyzed at different temperatures. The LIF signal showed strong dependence on temperature, which can potentially be used for temperature measurements. At elevated temperatures, spatially resolved LIF SO 2 detection up to a few ppm sensitivity was achieved. Combining UV broad band absorption spectroscopy and LIF, highly sensitive and spatially resolved quantitative measurements of SO 2 in the combustion environment can be achieved.

We demonstrate quantitative measurements of methane (CH 4 ) mole fractions in a low-pressure fuel-rich premixed dimethyl ether/oxygen/argon flat flame (Φ = 1.87, 37 mbar) using mid-infrared (IR) polarization spectroscopy (IRPS). Non-intrusive in situ detection of CH 4 , acetylene (C 2 H 2 ), and ethane (C 2 H 6 ) in the flame was realized by probing the fundamental asymmetric C-H stretching vibration bands in the respective molecules in the spectral range 2970-3340 cm -1 . The flame was stabilized on a McKenna-type porous plug burner hosted in a low-pressure chamber. The temperature at different heights above the burner (HAB) was measured from the line ratio of temperature-sensitive H 2 O spectral lines recorded using IRPS. Quantitative measurements of CH 4 mole fractions at different HAB in the flame were realized by a calibration measurement in a low-pressure gas flow of N 2 with a small admixture of known amount of CH 4 . A comprehensive study of the collision effects on the IRPS signal was performed in order to quantify the flame measurement. The concentration and temperature measurements were found to agree reasonably well with simulations using Chemkin. These measurements prove the potential of IRPS as a sensitive, non-intrusive, in situ technique in low pressure flames.

An understanding of potassium chemistry in energy conversion processes supports the development of complex biomass utilization with high efficiency and low pollutant emissions. Potassium exists mainly as potassium hydroxide (KOH), potassium chloride (KCl), and atomic potassium (K) in combustion and related thermochemical processes. We report, for the first time, the measurement of the ultraviolet (UV) absorption cross sections of KOH and KCl at temperatures between 1300 K and 1800 K, using a newly developed method. Using the spectrally resolved UV absorption cross sections, the concentrations of KOH and KCl were measured simultaneously. In addition, we measured the concentrations of atomic K using tunable diode laser absorption spectroscopy, both at 404.4 and 769.9 nm. The 404.4 nm line was utilized to expand the measurement dynamic range to higher concentrations. A constant amount of KCl was seeded into premixed CH 4 /air flames with equivalence ratios varied from 0.67 to 1.32, and the concentrations of KOH, KCl, and atomic K in the hot flue gas were measured nonintrusively. The results indicate that these techniques can provide comprehensive data for quantitative understanding of the potassium chemistry in biomass combustion/gasification.

We present a protocol for performing gas spectroscopy using infrared degenerated four-wave mixing (IR-DFWM), for the quantitative detection of gas species in the ppm-to-single-percent range. The main purpose of the method is the spatially resolved detection of low-concentration species, which have no transitions in the visible or near-IR spectral range that could be used for detection. IR-DFWM is a nonintrusive method, which is a great advantage in combustion research, as inserting a probe into a flame can change it drastically. The IR-DFWM is combined with upconversion detection. This detection scheme uses sum-frequency generation to move the IR-DFWM signal from the mid-IR to the near-IR region, to take advantage of the superior noise characteristics of silicon-based detectors. This process also rejects most of the thermal background radiation. The focus of the protocol presented here is on the proper alignment of the IR-DFWM optics and on how to align an intracavity upconversion detection system.

We demonstrate the enhancement of femtosecond (fs) laser-induced filaments in air and nitrogen flow fields using a nanosecond (ns) laser. With the ns laser being imposed on the filaments, the length and the emission intensity of the filaments were largely increased. Temporally resolved spectra of the enhanced filaments were obtained. The results show that the ns laser enhanced the short-lifetime fluorescence of nitrogen, which comes from the transition processes of N 2 + (B 2 Σ u + - X 2 Σ g + ), N 2 (B 3 П g - A 3 Σ u + ) and N 2 (C 3 П u - B 3 П g ). However, it had little effect on the long-lifetime chemiluminescence, which mainly comes from reactions such as N 2 (A 3 Σ u + ) + N 2 (A 3 Σ u + ) → N 2 (X 1 Σ g + , v = 0) + N 2 (B 3 П g ). A possible explanation of this phenomenon is given, and this phenomenon might have potential applications in instantaneous one-dimensional measurements of various species in gas flow fields.

Femtosecond laser-induced plasma spectroscopy for in situ ammonia ( NH 3 ) measurements was demonstrated in NH 3 / N 2 mixtures. When a femtosecond laser at 800 nm was focused at the flow field, the parent NH 3 molecules would be photolyzed to generate electronics excited NH fragments, and then indirect measurements of NH 3 could be realized by detecting the NH fluorescence ( A 3 Π - X 3 Σ - ) at 336 nm. A detection limit of 205 ppm was achieved. This work is the first attempt, to the best of our knowledge, for ammonia measurements with a femtosecond laser, and the results are useful for the development of ammonia diagnostics.

Equivalence ratio is one of the most significant parameters in combustion flow fields. In this paper, femtosecond laser-induced plasma spectroscopy (FLIPS) technique for instantaneous one-dimensional local equivalence ratio measurements were performed. By measuring the spatially resolved spectra of FLIPS, we found that the spectral peak area ratios of CH (431 nm)/N 2 (337 nm), CH (431 nm)/N 2 (357 nm), and CH (431 nm)/O (777 nm) can be utilized to achieve one-dimensional local equivalence ratio measurements. Among them, the CH peak at ~431 nm and the O peak at ~777 nm are strong enough to be used to achieve single-shot measurements, which is important to turbulent flow fields. Furthermore, systematic experiments were performed by using FLIPS in both laminar and turbulent flow fields. The FLIPS technique features the abilities of instantaneous one-dimensional quantitative measurements, high spatial resolution, and no Bremsstrahlung interference.

Femtosecond laser electronic excitation tagging (FLEET) is a molecular tagging velocimetry technique that can be applied in combustion flow fields, although detailed studies of its application in combustion are still needed. We report the applicability of FLEET in premixed CH 4 -air flames. We found that FLEET can be applied in all of the combustion areas (e.g., the unburned region, the burned region and the reaction zone). The FLEET signal in the unburned region is significantly higher than that in the burned region. This technique is suitable for both lean and rich CH 4 -air combustion flow fields and its performance in lean flames is better than that in rich flames.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder with considerable clinical and genetic heterogeneity. In this study, we identified all classes of genomic variants from whole-genome sequencing (WGS) dataset of 32 Chinese trios with ASD, including de novo mutations, inherited variants, copy number variants (CNVs) and genomic structural variants. A higher mutation rate (Poisson test, P < 2.2 × 10 -16 ) in exonic (1.37 × 10 -8 ) and 3'-UTR regions (1.42 × 10 -8 ) was revealed in comparison with that of whole genome (1.05 × 10 -8 ). Using an integrated model, we identified 87 potentially risk genes (P < 0.01) from 4832 genes harboring various rare deleterious variants, including CHD8 and NRXN2, implying that the disorders may be in favor to multiple-hit. In particular, frequent rare inherited mutations of several microcephaly-associated genes (ASPM, WDR62, and ZNF335) were found in ASD. In chromosomal structure analyses, we found four de novo CNVs and one de novo chromosomal rearrangement event, including a de novo duplication of UBE3A-containing region at 15q11.2-q13.1, which causes Angelman syndrome and microcephaly, and a disrupted TNR due to de novo chromosomal translocation t(1; 5)(q25.1; q33.2). Taken together, our results suggest that abnormalities of centrosomal function and chromatin remodeling of the microcephaly-associated genes may be implicated in pathogenesis of ASD. Adoption of WGS as a new yet efficient technique to illustrate the full genetic spectrum in complex disorders, such as ASD, could provide novel insights into pathogenesis, diagnosis and treatment., (Copyright © 2018. Published by Elsevier Ltd.)

Dissecting the genetic susceptibility to intellectual disability (ID) based on de novo mutations (DNMs) will aid our understanding of the neurobiological and genetic basis of ID. In this study, we identify 63 high-confidence ID genes with q -values < 0.1 based on four background DNM rates and coding DNM data sets from multiple sequencing cohorts. Bioinformatic annotations revealed a higher burden of these 63 ID genes in FMRP targets and CHD8 targets, and these genes show evolutionary constraint against functional genetic variation. Moreover, these ID risk genes were preferentially expressed in the cortical regions from the early fetal to late mid-fetal stages. In particular, a genome-wide weighted co-expression network analysis suggested that ID genes tightly converge onto two biological modules (M1 and M2) during human brain development. Functional annotations showed specific enrichment of chromatin modification and transcriptional regulation for M1 and synaptic function for M2, implying the divergent etiology of the two modules. In addition, we curated 12 additional strong ID risk genes whose molecular interconnectivity with known ID genes ( q -values < 0.3) was greater than random. These findings further highlight the biological convergence of ID risk genes and help improve our understanding of the genetic architecture of ID.

Spectrally resolved ultraviolet (UV) absorption cross-sections of gas-phase sodium chloride (NaCl), potassium hydroxide (KOH), and sodium hydroxide (NaOH) were measured, for the first time, in hot flue gases at different temperatures. Homogenous gas-phase NaCl, KCl (potassium chloride), NaOH, and KOH at temperatures 1200 K, 1400 K, 1600 K, and 1850 K were prepared in the post-flame zone of laminar flames by seeding nebulized droplets out of aqueous solution of corresponding alkali species. The amount of droplets seeded into the flame was kept constant, so the relative concentration of different alkali species can be derived. The broadband UV absorption cross-section of KCl vapor reported by Leffler et al. was adopted to derive the absorption cross-section curves of NaCl, NaOH, and KOH with the corresponding measured spectrally resolved absorbance spectra. No significant changes in the spectral structures in the absorption cross-sections were found as the temperature varied between 1200 K and 1850 K, except for NaOH at around 320 nm. The difference between the absorption spectral curves of alkali chlorides and hydroxides is significant at wavelengths above 300 nm, which thus can be used to distinguish and obtain the concentrations of alkali chlorides and hydroxides in the broadband UV absorption measurements.

We demonstrate a non-contact spatiotemporally resolved comprehensive method for gas flow velocity field measurement: Filamentary Anemometry using femtosecond Laser-extended Electric Discharge (FALED). A faint thin plasma channel was generated in ambient air by focusing an 800-nm laser beam of 45 fs, which was used to ignite a pulsed electric discharge between two electrodes separated over 10 mm. The power supplier provided a maximum voltage up to 5 kV and was operated at a burst mode with a current duration of less than 20 ns and a pulse-to-pulse separation of 40 μs. The laser-guided thin filamentary discharge plasma column was blowing up perpendicularly by an air jet placed beneath in-between the two electrodes. Although the discharge pulse was short, the conductivity of the plasma channel was observed to sustain much longer, so that a sequence of discharge filaments was generated as the plasma channel being blown up by the jet flow. The sequential bright thin discharge filaments can be photographed using a household camera to calculate the flow velocity distribution of the jet flow. For a direct comparison, a flow field measurement using FLEET [Appl. Opt. 50, 5158 (2011)] was also performed. The results indicate that the FALED technique can provide instantaneous nonintrusive flow field velocity measurement with good accuracy.

This paper addresses the problem of stability for continuous-time and discrete-time quaternion-valued neural networks (QVNNs) with linear threshold neurons. Applying the semidiscretization technique to the continuous-time QVNNs, the discrete-time analogs are obtained, which preserve the dynamical characteristics of their continuous-time counterparts. Via the plural decomposition method of quaternion, homeomorphic mapping theorem, as well as Lyapunov theorem, some sufficient conditions on the existence, uniqueness, and global asymptotical stability of the equilibrium point are derived for the continuous-time QVNNs and their discrete-time analogs, respectively. Furthermore, a uniform sufficient condition on the existence, uniqueness, and global asymptotical stability of the equilibrium point is obtained for both continuous-time QVNNs and their discrete-time version. Finally, two numerical examples are provided to substantiate the effectiveness of the proposed results.

A nonintrusive method for flow gas temperature measurement using differential optical absorption spectroscopy (DOAS) was demonstrated. A temperature-dependent spectra (TDS) originated from the DOAS spectra of sulfur dioxide (SO 2 ) in the wavelength range of 276-310 nm was introduced, and the relationship between the TDS and the temperature was built through experimental calibration process. This relationship is found to be independent of SO 2 concentration and can be used for temperature measurements. The experimental results indicated that the precision of the TDS method is < ± 0.3% for SO 2 concentrations higher than 150 ppm with the optical path length of 170 mm. For lower concentrations, the precision is estimated to be ± 0.4% at 1 ppm. The relative deviation between the temperature measured by the TDS method and that measured by a thermocouple is within 3% in the temperature range of 298-750 K, and the TDS method has a quicker response to the fast-changing temperature than the thermocouple.

Analysis of de novo mutations (DNMs) from sequencing data of nuclear families has identified risk genes for many complex diseases, including multiple neurodevelopmental and psychiatric disorders. Most of these efforts have focused on mutations in protein-coding sequences. Evidence from genome-wide association studies (GWASs) strongly suggests that variants important to human diseases often lie in non-coding regions. Extending DNM-based approaches to non-coding sequences is challenging, however, because the functional significance of non-coding mutations is difficult to predict. We propose a statistical framework for analyzing DNMs from whole-genome sequencing (WGS) data. This method, TADA-Annotations (TADA-A), is a major advance of the TADA method we developed earlier for DNM analysis in coding regions. TADA-A is able to incorporate many functional annotations such as conservation and enhancer marks, to learn from data which annotations are informative of pathogenic mutations, and to combine both coding and non-coding mutations at the gene level to detect risk genes. It also supports meta-analysis of multiple DNM studies, while adjusting for study-specific technical effects. We applied TADA-A to WGS data of ∼300 autism-affected family trios across five studies and discovered several autism risk genes. The software is freely available for all research uses., (Copyright © 2018 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.)

Whole-genome or whole-exome sequencing (WGS/WES) of the affected proband together with normal parents (trio) is commonly adopted to identify de novo germline mutations (DNMs) underlying sporadic cases of various genetic disorders. However, our current knowledge of the occurrence and functional effects of DNMs remains limited and accurately identifying the disease-causing DNM from a group of irrelevant DNMs is complicated. Herein, we provide a general-purpose discussion of important issues related to pathogenic gene identification based on trio-based WGS/WES data. Specifically, the relevance of DNMs to human sporadic diseases, current knowledge of DNM biogenesis mechanisms, and common strategies or software tools used for DNM detection are reviewed, followed by a discussion of pathogenic gene prioritization. In addition, several key factors that may affect DNM identification accuracy and causal gene prioritization are reviewed. Based on recent major advances, this review both sheds light on how trio-based WGS/WES technologies can play a significant role in the identification of DNMs and causal genes for sporadic diseases, and also discusses existing challenges., (© 2017 Cambridge Philosophical Society.)

Epileptic encephalopathies (EEs) are a group of severe neurodevelopmental disorders with extreme genetic heterogeneity. Recent trio-based whole-exome sequencing (WES) studies have demonstrated that de novo mutations (DNMs) play prominent roles in severe EE. In this study, we searched for potential causal DNMs by using high-coverage WES of four unrelated Chinese parent-offspring trios affected by West syndrome. Through extensive bioinformatic analysis, we identified three novel DNMs in DNMT3A, CDKL5, and MAMDC2 in three trios and two compound heterozygous mutations in KMT2A in one trio. The DNMs in CDKL5 and DNMT3A were considered to be deleterious on the basis of the consensus of several genetic damage prediction tools. In addition, spatiotemporal expression patterns revealed a high level of DNMT3A expression during the early embryonic stage in nearly all brain regions. We also observed that certain high-confidence genes for epilepsy were shared among the co-expression and genetic interaction networks of DNMT3A, CDKL5, and KMT2A. Furthermore, all the candidate epilepsy genes in the co-expression network of DNMT3A were significantly enriched in the early developmental stages of the brain according to a rank-based enrichment test. In particular, we found that the DNMs of DNMT3A were shared among EE, autism spectrum disorder (ASD), and intellectual disability (ID) and mainly occurred in the functional domain of DNMT3A. Together, our findings support an association between DNMT3A mutations and EE susceptibility and suggest a shared molecular pathophysiology among EE and other neuropsychiatric disorders.

Background: Amyotrophic lateral sclerosis (ALS) is a progressive neurological disease characterised by the degeneration of motor neurons, which are responsible for voluntary movement. There remains limited understanding of disease aetiology, with median survival of ALS of three years and no effective treatment. Identifying genes that contribute to ALS susceptibility is an important step towards understanding aetiology. The vast majority of published human genetic studies, including for ALS, have used samples of European ancestry. The importance of trans-ethnic studies in human genetic studies is widely recognised, yet a dearth of studies of non-European ancestries remains. Here, we report analyses of novel whole-exome sequencing (WES) data from Chinese ALS and control individuals., Methods: WES data were generated for 610 ALS cases and 460 controls drawn from Chinese populations. We assessed evidence for an excess of rare damaging mutations at the gene level and the gene set level, considering only singleton variants filtered to have allele frequency less than 5 × 10 -5 in reference databases. To meta-analyse our results with a published study of European ancestry, we used a Cochran-Mantel-Haenszel test to compare gene-level variant counts in cases vs controls., Results: No gene passed the genome-wide significance threshold with ALS in Chinese samples alone. Combining rare variant counts in Chinese with those from the largest WES study of European ancestry resulted in three genes surpassing genome-wide significance: TBK1 (p = 8.3 × 10 -12 ), SOD1 (p = 8.9 × 10 -9 ) and NEK1 (p = 1.1 × 10 -9 ). In the Chinese data alone, SOD1 and NEK1 were nominally significantly associated with ALS (p = 0.04 and p = 7 × 10 -3 , respectively) and the case/control frequencies of rare coding variants in these genes were similar in Chinese and Europeans (SOD1: 1.5%/0.2% vs 0.9%/0.1%, NEK1 1.8%/0.4% vs 1.9%/0.8%). This was also true for TBK1 (1.2%/0.2% vs 1.4%/0.4%), but the association with ALS in Chinese was not significant (p = 0.14)., Conclusions: While SOD1 is already recognised as an ALS-associated gene in Chinese, we provide novel evidence for association of NEK1 with ALS in Chinese, reporting variants in these genes not previously found in Europeans.

We demonstrate a femtosecond two-photon laser-induced fluorescence (fs-TPLIF) technique for sensitive CO detection, using a 230 nm pulse of 9 µJ and 45 fs. The advantages of fs-TPLIF in excitation of molecular species were analyzed. Spectra of CO fs-TPLIF were recorded in stable laminar flames spatially resolved across the flame front. A hot band (1, n) together with the conventional band (0, n) of the B→A transitions were observed in the burned zone and attributed to the broadband nature of the fs excitation. The CO fs-TPLIF signal recorded across the focal point of the excitation beam shows a relatively flat intensity distribution despite of the steep laser intensity variation, which is beneficial for CO imaging in contrast to nanosecond and picosecond TPLIF. This phenomenon can be explained by photoionization, which over the short pulse duration dominates the population depletion of the excited B state due to the high peak power, but only contributes in total a negligible X state depletion due to the low pulse energy. Single-shot CO fs-TPLIF images in methane/air flames were recorded by imaging the broadband fluorescence. The results indicate that fs-TPLIF is a promising tool for CO imaging in flames.

Cross-ethnic genetic studies can leverage power from differences in disease epidemiology and population-specific genetic architecture. In particular, the differences in linkage disequilibrium and allele frequency patterns across ethnic groups may increase gene-mapping resolution. Here we use cross-ethnic genetic data in sporadic amyotrophic lateral sclerosis (ALS), an adult-onset, rapidly progressing neurodegenerative disease. We report analyses of novel genome-wide association study data of 1,234 ALS cases and 2,850 controls. We find a significant association of rs10463311 spanning GPX3-TNIP1 with ALS (p = 1.3 × 10 -8 ), with replication support from two independent Australian samples (combined 576 cases and 683 controls, p = 1.7 × 10 -3 ). Both GPX3 and TNIP1 interact with other known ALS genes (SOD1 and OPTN, respectively). In addition, GGNBP2 was identified using gene-based analysis and summary statistics-based Mendelian randomization analysis, although further replication is needed to confirm this result. Our results increase our understanding of genetic aetiology of ALS.Amyotrophic lateral sclerosis (ALS) is a rapidly progressing neurodegenerative disease. Here, Wray and colleagues identify association of the GPX3-TNIP1 locus with ALS using cross-ethnic meta-analyses.

A new scheme for NH 2 detection by means of laser-induced fluorescence (LIF) with excitation around wavelength 385nm, accessible using the second harmonic of a solid-state Alexandrite laser, is presented. Detection of NH 2 was confirmed by identification of corresponding lines in fluorescence excitation spectra measured in premixed NH 3 -air flames and on NH 2 radicals generated through NH 3 photolysis in a nonreactive flow at ambient conditions. Moreover, spectral simulations allow for tentative NH 2 line identification. Dispersed fluorescence emission spectra measured in flames and photolysis experiments showed lines attributed to vibrational bands of the NH 2 A 2 A 1 ←X 2 B 1 transition but also a continuous structure, which in flame was observed to be dependent on nitrogen added to the fuel, apparently also generated by NH 2 . A general conclusion was that fluorescence interferences need to be carefully considered for NH 2 diagnostics in this spectral region. Excitation for laser irradiances up to 0.2GW/cm 2 did not result in NH 2 fluorescence saturation and allowed for efficient utilization of the available laser power without indication of laser-induced photochemistry. Compared with a previously employed excitation/detection scheme for NH 2 at around 630nm, excitation at 385.7nm showed a factor of ~15 higher NH 2 signal. The improved signal allowed for single-shot NH 2 LIF imaging on centimeter scale in flame with signal-to-noise ratio of 3 for concentrations around 1000ppm, suggesting a detection limit around 700ppm. Thus, the presented approach for NH 2 detection provides enhanced possibilities for characterization of fuel-nitrogen combustion chemistry., (Copyright © 2017 The Authors. Published by Elsevier B.V. All rights reserved.)

Translational, rotational, vibrational and electron temperatures of a gliding arc discharge in atmospheric pressure air were experimentally investigated using in situ, non-intrusive optical diagnostic techniques. The gliding arc discharge was driven by a 35 kHz alternating current (AC) power source and operated in a glow-type regime. The two-dimensional distribution of the translational temperature (Tt) of the gliding arc discharge was determined using planar laser-induced Rayleigh scattering. The rotational and vibrational temperatures were obtained by simulating the experimental spectra. The OH A-X (0, 0) band was used to simulate the rotational temperature (Tr) of the gliding arc discharge whereas the NO A-X (1, 0) and (0, 1) bands were used to determine its vibrational temperature (Tv). The instantaneous reduced electric field strength E/N was obtained by simultaneously measuring the instantaneous length of the plasma column, the discharge voltage and the translational temperature, from which the electron temperature (Te) of the gliding arc discharge was estimated. The uncertainties of the translational, rotational, vibrational and electron temperatures were analyzed. The relations of these four different temperatures (Te>Tv>Tr >Tt) suggest a high-degree non-equilibrium state of the gliding arc discharge.

This paper addresses the problem of robust stability for quaternion-valued neural networks (QVNNs) with leakage delay, discrete delay and parameter uncertainties. Based on Homeomorphic mapping theorem and Lyapunov theorem, via modulus inequality technique of quaternions, some sufficient conditions on the existence, uniqueness, and global robust stability of the equilibrium point are derived for the delayed QVNNs with parameter uncertainties. Furthermore, as direct applications of these results, several sufficient conditions are obtained for checking the global robust stability of QVNNs without leakage delay as well as complex-valued neural networks (CVNNs) with both leakage and discrete delays. Finally, two numerical examples are provided to substantiate the effectiveness of the proposed results., (Published by Elsevier Ltd.)

Laser-induced photofragmentation fluorescence has been investigated for the imaging of alkali compounds in premixed laminar methane-air flames. An ArF excimer laser, providing pulses of wavelength 193 nm, was used to photodissociate KCl, KOH, and NaCl molecules in the post-flame region and fluorescence from the excited atomic alkali fragment was detected. Fluorescence emission spectra showed distinct lines of the alkali atoms allowing for efficient background filtering. Temperature data from Rayleigh scattering measurements together with simulations of potassium chemistry presented in literature allowed for conclusions on the relative contributions of potassium species KOH and KCl to the detected signal. Experimental approaches for separate measurements of these components are discussed. Signal power dependence and calculated fractions of dissociated molecules indicate the saturation of the photolysis process, independent on absorption cross-section, under the experimental conditions. Quantitative KCl concentrations up to 30 parts per million (ppm) were evaluated from the fluorescence data and showed good agreement with results from ultraviolet absorption measurements. Detection limits for KCl photofragmentation fluorescence imaging of 0.5 and 1.0 ppm were determined for averaged and single-shot data, respectively. Moreover, simultaneous imaging of KCl and NaCl was demonstrated using a stereoscope with filters. The results indicate that the photofragmentation method can be employed for detailed studies of alkali chemistry in laboratory flames for validation of chemical kinetic mechanisms crucial for efficient biomass fuel utilization.

The etiology of the highly myopic condition has been unclear for decades. We investigated the genetic contributions to early-onset high myopia (EOHM), which is defined as having a refraction of less than or equal to -6 diopters before the age of 6, when children are less likely to be exposed to high educational pressures. Trios (two nonmyopic parents and one child) were examined to uncover pathogenic mutations using whole-exome sequencing. We identified parent-transmitted biallelic mutations or de novo mutations in as-yet-unknown or reported genes in 16 probands. Interestingly, an increased rate of de novo mutations was identified in the EOHM patients. Among the newly identified candidate genes, a BSG mutation was identified in one EOHM proband. Expanded screening of 1,040 patients found an additional four mutations in the same gene. Then, we generated Bsg mutant mice to further elucidate the functional impact of this gene and observed typical myopic phenotypes, including an elongated axial length. Using a trio-based exonic screening study in EOHM, we deciphered a prominent role for de novo mutations in EOHM patients without myopic parents. The discovery of a disease gene, BSG , provides insights into myopic development and its etiology, which expands our current understanding of high myopia and might be useful for future treatment and prevention., Competing Interests: The authors declare no conflict of interest.

A novel multi-jet burner was built to provide one-dimensional laminar flat flames with a wide range of variable parameters for multipurpose quantitative optical measurements. The burner is characterized by two independent plenum chambers, one supporting a matrix of 181 laminar jet flames and the other supporting a co-flow from a perforated plate with small holes evenly distributed among the jets. A uniform rectangular burned gas region of 70 mm × 40 mm can be generated, with a wide range of temperatures and equivalence ratios by controlling independently the gas supplies to the two plenum chambers. The temperature of the hot gas can be adjusted from 1000 K to 2000 K with different flame conditions. The burner is designed to seed additives in gas or liquid phase to study homogeneous reactions. The large uniform region can be used to burn solid fuels and study heterogeneous reactions. The temperature was measured using two-line atomic fluorescence thermometry and the temperature profile at a given height above the burner was found to be flat. Different types of optical diagnostic techniques, such as line of sight absorption or laser-induced fluorescence, can be easily applied in the burner, and as examples, two typical measurements concerning biomass combustion are demonstrated.

De novo germline mutations (DNMs) are the rarest genetic variants proven to cause a considerable number of sporadic genetic diseases, such as autism spectrum disorders, epileptic encephalopathy, schizophrenia, congenital heart disease, type 1 diabetes, and hearing loss. However, it is difficult to accurately assess the cause of DNMs and identify disease-causing genes from the considerable number of DNMs in probands. A common method to this problem is to identify genes that harbor significantly more DNMs than expected by chance, with accurate background DNM rate (DNMR) required. Therefore, in this study, we developed a novel database named mirDNMR for the collection of gene-centered background DNMRs obtained from different methods and population variation data. The database has the following functions: (i) browse and search the background DNMRs of each gene predicted by four different methods, including GC content (DNMR-GC), sequence context (DNMR-SC), multiple factors (DNMR-MF) and local DNA methylation level (DNMR-DM); (ii) search variant frequencies in publicly available databases, including ExAC, ESP6500, UK10K, 1000G and dbSNP and (iii) investigate the DNM burden to prioritize candidate genes based on the four background DNMRs using three statistical methods (TADA, Binomial and Poisson test). As a case study, we successfully employed our database in candidate gene prioritization for a sporadic complex disease: intellectual disability. In conclusion, mirDNMR (https://www.wzgenomics.cn/mirdnmr/) can be widely used to identify the genetic basis of sporadic genetic diseases., (© The Author(s) 2016. Published by Oxford University Press on behalf of Nucleic Acids Research.)