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Marfan syndrome (MFS) is a complex connective tissue disorder characterized by considerable clinical variability. The diagnosis of MFS is based on the Ghent criteria, which require the presence of both clinical and genetic features. MFS is primarily caused by pathogenic alterations in FBN1, which encodes the fibrillin‐1 protein. Fibrillin‐1 comprises multiple domains rich in cysteine residues, with disulfide bonds formed between these residues. It has long been recognized that variants that alter or introduce cysteine residues damage protein function, leading to the development of MFS. In this study, we report a cysteine‐introducing variant: FBN1 variant, c.6724C>T (p.[Arg2242Cys]). We have observed this variant in several individuals without MFS, challenging our previous understanding of the underlying mechanism of MFS. This finding emphasizes the importance of revisiting and reevaluating our current knowledge in light of new and unexpected observations. Moreover, our study highlights the significance of incorporating local and national data on allele frequencies, as well as employing multidisciplinary phenotyping approaches, in the classification of genetic variants. By considering a wide range of information, we can enhance the accuracy and reliability of variant classification, ultimately improving the diagnosis and management of individuals with genetic disorders like MFS. [ABSTRACT FROM AUTHOR]

BACKGROUND: Curcumin (CUR) and anthocyanins (ACN) are recommended due to their bioactivities. However, their nutritional values and health benefits are limited by their low oral bioavailability. The incorporation of bioactive substances into polysaccharide--protein composite nanoparticles is an effective way to enhance their bioavailability. Accordingly, this study explored the fabrication of bovine serum albumin (BSA)--fucoidan (FUC) hybrid nanoparticles using a two-step pH-driven method for the delivery of CUR and ACN. RESULTS: Under a 1:1 weight ratio of BSA to FUC, the point of zero charge moved from pH ~ 4.7 for BSA to around 2.5 for FUC-coated BSA, and the formation of BSA--FUC nanocomplex was pH-dependent by showing the maximum CUR emission wave-length shifting from 546 nm (CUR-loaded BSA--FUC at pH 4.7) and 544 nm (CUR/ACN-loaded BSA--FUC nanoparticles at pH 4.7) to 540 nm (CUR-loaded BSA-FUC at pH 6.0) and 539 nm (CUR/ACN-loaded BSA--FUC nanoparticles at pH 6.0). Elevated concentrations of NaCl from 0 to 2.5 mol L-1 caused particle size increase from about 250 to about 800 nm, but showing no effect on the encapsulation efficiency of CUR. The CUR and ACN entrapped, respectively, in the inner and outer regions of the BSA--FUC nanocomplex were released at different rates. After incubation for 10 h, more than 80% of ACN was released, while less than 25% of CUR diffused into the receiving medium, which fitted well to Logistic and Weibull models. [ABSTRACT FROM AUTHOR]

The emerging evidence has indicated the role of microRNAs (miRNA) in various physiological or pathological processes. Also, documents have suggested that exercise, by affecting miRNA regulation, may enhance burn wound healing. The current study aims to systematically review the role of exercise in regulating miRNAs related to burn wound healing to provide potential therapeutic targets. A comprehensive, systematic search was performed in different international electronic databases, such as Embase, PubMed and Google Scholar search engine, Science Direct, ProQuest and Ovid using keywords extracted from Medical Subject Headings from 2010 to September 2023. The keywords, including 'exercise' AND 'burn wound' AND 'microRNA' and finally, six cases were achieved. Evidence has indicated that exercise may promote the healing of burn wounds by regulating certain miRNAs. Studies have found that exercise regulates the expression of miRNAs such as mir‐155, miR‐21, let‐7a, miR‐146a, miR‐122 and mir‐210 in burn wound tissue, which regulate inflammation and angiogenesis. These findings suggest that miRNAs may play a role in the positive effect of exercise on burn wound healing. However, further research is needed to understand the mechanisms involved fully. [ABSTRACT FROM AUTHOR]

Radio wave propagation modelling in railway environments is of fundamental importance in designing reliable train communication systems. Parabolic equation (PE) methods have been widely applied to the modelling of wave propagation in tunnels due to their high computational efficiency and fidelity. The finite-difference parabolic equation (FDPE) and the split-step parabolic equation (SSPE) methods are two commonly used approaches to solve PE numerically. However, the relevant literature is still missing a comprehensive study of their performance, including the selection of parameters such as discretisation steps and the tradeoffs involved in terms of their accuracy and efficiency, especially as current wireless systems shift to high frequencies. In this study, a systematic analysis of the error and computational complexity of the FDPE and SSPE methods for radio wave propagation modelling in tunnels is provided. Guidelines for the choice of their parameters are provided, and their performance is demonstrated through both numerical examples and experimental measurements in actual tunnel cases. [ABSTRACT FROM AUTHOR]

Ether‐based electrolytes that are endowed with decent compatibility towards lithium anode have been regarded as promising candidates for constructing energy‐dense lithium metal batteries (LMBs), but their applications are hindered by low oxidation stability in conventional salt concentration. Here, we reported that regulating the chelating power and coordination structure can remarkably increase the high‐voltage stability of ether‐based electrolytes and lifespan of LMBs. Two ether molecules of 1,3‐dimethoxypropane (DMP) and 1,3‐diethoxypropane (DEP) are designed and synthesized as solvents of electrolytes to replace the traditional ether solvent (1,2‐dimethoxyethane, DME). Both computational and spectra reveal that the transition from five‐ to six‐membered chelate solvation structure by adding one methylene on DME results in the formation of weak Li solvates, which increase the reversibility and high‐voltage stability in LMBs. Even under lean electrolyte (5 mL Ah−1) and low anode to cathode ratio (2.6), the fabricated high‐voltage Li||LiNi0.8Co0.1Mn0.1O2 LMBs using electrolyte of 2.30 M Lithiumbisfluorosulfonimide (LiFSI)/DMP still show capacity retention over 90 % after 184 cycles. This work highlights the importance of designing the coordination structures in non‐fluorine ether electrolytes for rechargeable batteries. [ABSTRACT FROM AUTHOR]

Objective: This study aimed to assess the diagnostic yield of prenatal genetic testing using trio whole exome sequencing (WES) and trio whole genome sequencing (WGS) in pregnancies with fetal anomalies by comparing the results with conventional chromosomal microarray (CMA) analysis. Methods: A total of 40 pregnancies with fetal anomalies or increased nuchal translucency (NT ≥ 5 mm) were included between the 12th and 21st week of gestation. Trio WES/WGS and CMA were performed in all cases. Results: The trio WES/WGS analysis increased the diagnostic yield by 25% in cases with negative CMA results. Furthermore, all six chromosomal aberrations identified by CMA were independently detected by WES/WGS analysis. In total, 16 out of 40 cases obtained a genetic sequence variant, copy number variant, or aneuploidy explaining the phenotype, resulting in an overall WES/WGS diagnostic yield of 40%. WES analysis provided a more reliable identification of mosaic sequence variants than WGS because of its higher sequencing depth. Conclusions: Prenatal WES/WGS proved to be powerful diagnostic tools for fetal anomalies, surpassing the diagnostic yield of CMA. They have the potential to serve as standalone methods for prenatal diagnosis. The study highlighted the limitations of WGS in accurately detecting mosaic variants, which is particularly relevant when analyzing chorionic villus samples. Key points: What's already known about this topic?Whole exome or genome sequencing (WES/WGS) increases the diagnostic yield compared to chromosomal microarray (CMA) alone.Confined placental mosaicism (CPM) is observed at the sequence level, which may provide ambiguous results in CVS WES/WGS analysis. What does this study add?WES/WGS can be a stand‐alone prenatal test detecting both sequence variants and CNVs as well as chromosomal aneuploidies.WES outperforms WGS in identifying mosaic sequence variants prenatally with high accuracy due to higher sequencing depth.The study highlights the limitations of WGS in detecting mosaic variants compared with WES. [ABSTRACT FROM AUTHOR]

The increasing use of mobile phone location (MPL) data in mobility research has provided many insights into people's travel behaviors. Despite these achievements, the spatial distribution of MPL data positioning uncertainties and their influence mechanism are rarely discussed. In this research, we investigate the influence of geographical determinants on the spatial distribution of the positioning uncertainties in MPL data. First, we discuss the spatial distribution trends in the positioning uncertainties of MPL data. Then we apply multiple linear regression and geographical detector (GeoDetector) models to explore the influence mechanism on the spatial distribution of the positioning uncertainties. By applying these methods to MPL data sets from a major operator in Nanjing city, we find a spatial aggregation phenomenon in the positioning uncertainties. Elevation contributes most to the spatial distribution of the positioning uncertainties. Furthermore, the influencing power of geographical factors on the spatial distribution of positioning uncertainties is nonlinearly enhanced after an interaction. [ABSTRACT FROM AUTHOR]

Main observation and conclusion: Nanoporous (NP) Ge/Ag composite is controllably fabricated via one simple dealloying method under mild conditions. After corroding the well‐designed Ge9Ag1Al90 source alloy, the resulting Ge/Ag consists of the three dimensional (3D) interconnected Ge network skeleton with Ag nanoparticles uniformly dispersed onto the surface. Benefitting from unique 3D porous nanostructure and introduction of high‐conductive Ag, the NP Ge/Ag composite exhibits much enhanced lithium storage performances by comparison with pure Ge material, including higher reversible capacitance, optimized rate capability as well as superior cycling performances. Besides, the NP Ge/Ag holds high cycling stability with large reversible capacity of 500 mA·h·g–1 remained under high current rate of 3200 mA·g–1 for an extended period of 300 loops. The Ge/Ag composite presents great potential in applications as an advanced anode candidate for lithium ion batteries in virtue of its excellent performances and green fabrication. [ABSTRACT FROM AUTHOR]

Circular RNAs (circRNAs) belong to noncoding RNAs and are widely expressed in a variety of cell species, including cancers. However, the function and mechanism of circRNAs in colorectal cancer (CRC) has not been well investigated. Here, we firstly downloaded and analyzed the circRNA expression profile of CRC from the Gene Expression Omnibus (GEO) database. And we identified 181 differentially expressed circRNAs between 10 pairs of CRC and adjacent normal tissues. Interestingly, we observed that the expression of hsa_circRNA_000166 was the top increased among these circRNAs. Then, we confirmed an upregulation of hsa_circRNA_000166 in CRC tissues and cell lines and observed that higher expression of hsa_circRNA_000166 was associated with poor 5-year survival rate of patients with CRC. Next, we investigated the function of hsa_circRNA_000166 during CRC progression by knocking down its expression. Cell growth and apoptosis assay revealed that hsa_circRNA_000166 regulated the cell growth and apoptosis in CRC cell lines. Furthermore, we identified that hsa_circRNA_000166 targeted the miR-326/LASP1 pathway using bioinformatics analysis and luciferase reporter assay. Finally, suppression of miR-326 or overexpression of LASP1 could sufficiently rescue the aberrant cell growth and apoptosis in CRC cell lines. Taken together, our results indicated that downregulation of hsa_circRNA_000166 inhibited the cell growth and facilitated apoptosis during CRC development by sponging the miR-326/LASP1 pathway. [ABSTRACT FROM AUTHOR]

In vehicle-to-vehicle (V2V) communications, achieving reliable physical layer performance is a challenging task due to the highly dynamic nature of V2V propagation channels. Frame timing estimation, as one of the most critical signal processing procedures that rely on channel statistics, has to be appropriately enhanced to tackle this challenge. This study presents a novel frame timing estimation scheme based on both the available periodical preambles in IEEE 802.11p standard. By designing the fourth-order statistics-based correlation and differential normalisation functions, the proposed timing metric not only is capable of possessing an extensible correlation length, but also achieves the robustness to multipath effect and large carrier frequency offset. From the standpoints of hypothesis testing and classification, the proposed approach can effectively increase the distinction between correct and wrong timing indexes in terms of the class-separability criteria, and consequently has a significantly improved timing estimation performance compared with the existing methods. Simulation results consist with theoretical analysis under the typical V2V channel model, and demonstrate that the proposed method can significantly reduce both the probabilities of false alarm and missed detection, and make the selection of a suitable threshold for frame detection much easier. [ABSTRACT FROM AUTHOR]

In order to diagnose the ablation characteristics of circuit breakers, the dynamic contact resistance measurement (DRM) has been proposed for almost 20 years. The dynamic resistance curves are easily influenced by two factors: injected current and opening velocity. The two factors are greatly affected the curves and may led a wrong diagnosis in DRM tests. Through analysis of the influence factors, an experimental model is used to simulate the opening process of the breaker in this study. The effective contact area of contact finger which is used in the experimental model under different velocities and current are measured by using the laser scanning microscope. The measurement proves that the changing of effective contact area plays determinative roles in the influencing of injected current and opening velocity. Then, the kernel partial least squares regression method is used to establish the model formula between influencing parameters and the dynamic contact resistance to realise the prediction of the dynamic contact resistance curves. Furthermore, the prediction model also can be used in other current carrying dry sliding friction conditions. [ABSTRACT FROM AUTHOR]

The 41 kD flagellin of Borrelia burgdorferi (B. burgdorferi) is a major component of periplasmic flagellar filament core and a good candidate for serodiagnosis in early stage of Lyme disease. Here, we chose 89 B. burgdorferi strains in China, amplified the gene encoding the 41 kD flagellin, and compared the sequences. The results showed that genetic diversity presented in the 41 kD flagellin genes of all 89 strains among the four genotypes of B. burgdorferi, especially in the genotype of B. garinii. Some specific mutation sites for each genotype of the 41 kD flagellin genes were found, which could be used for genotyping B. burgdorferi strains in China. Human B-cell epitope analysis showed that thirteen of 15 nonsynonymous mutations occurred in the epitope region of 41 kD flagellin and thirty of 42 B-cell epitopes were altered due to all 13 nonsynonymous mutations in the epitope region, which may affect the function of the antigen. Nonsynonymous mutations and changed human B-cell epitopes exist in 41 kD flagellin of B. burgdorferi sensu lato strains; these changes should be considered in serodiagnosis of Lyme disease. [ABSTRACT FROM AUTHOR]

Upon dealloying a carefully designed CoCuAl ternary alloy in NaOH solution at room temperature, a Co3O4/CuO nanocomposite with an interconnected porous microstructure assembled by a secondary structure of nanosheets was successfully fabricated. By using the dealloying strategy, the target metals directly grew to form uniform bimetallic oxide nanocomposites. Owing to the unique hierarchical structure and the synergistic effect of both active electrode materials, the Co3O4/CuO nanocomposite exhibits much enhanced electrochemical performance with higher capacities and better cycling stability compared to anodes of pure Co3O4. Moreover, it performs excellently in terms of cycle reversibility, Coulombic efficiency, and rate capability, at both low or high current rates. With the advantages of unique performance and ease of preparation, the as-made Co3O4/CuO nanocomposite demonstrates promising application potential as an advanced anode material for lithium-ion batteries. [ABSTRACT FROM AUTHOR]

A hierarchical nanoporous (HNP) PtCu alloy was successfully fabricated by two-step dealloying of a well-designed PtCuAl precursor alloy combined with an annealing operation. The asmade PtCu alloy has an interconnected hierarchical network architecture with controllable bimodal ligament/pore distributions obtained by adjusting the annealing temperature and the redealloying time. HNP-PtCu exhibits superior specific and mass activities for the oxygen-reduction reaction (ORR) compared with single-modal nanoporous PtCu and commercial Pt/C catalysts. More importantly, the HNP-PtCu alloy shows much higher structure stability with less loss of the electrochemical surface area of Pt and ORR activity upon long-term potential scans in acid solution. The excellent electrocatalytic performance for ORR makes the HNP-PtCu alloy attractive as efficient cathode electrocatalysts in fuel-cell-related technologies. [ABSTRACT FROM AUTHOR]

MicroRNAs (miRNAs) are small noncoding RNA molecules which are involved in tumorigenesis and development. To investigate their role in primary laryngeal squamous cell carcinoma(LSCC),miRNAGeneChipswere used to screen the differentially expressed miRNA, and then validated by real-time quantitative PCR in LSCC samples, we found that miR-375 was frequently downregulated in primary LSCC tissues. The tumor-suppressive effect of miR-375 was determined by in vitro assays; through gain-of-function studies we demonstrated that miR-375 can inhibit LSCC cell (SNU-48 and SNU-899) proliferation, motility, and invasion, and promote their apoptosis. In addition, bioinformatics tools TargetScan, PicTar, and Miranda were used to investigate the potential target of miR-375; bioinformatics analysis and dual-luciferase reporter assay indicated that IGF1R was a novel direct target of miR- 375. Ectopic transfection of miR-375 led to a significant reduction in IGF1R and its downstreamsignaling molecule AKT at both the mRNA and protein levels in LSCC cells. Our results suggested that downregulation of miR-375 is one of the molecularmechanisms for the development and progression of LSCC by directly targeting IGF1R and affecting its downstream AKT signaling pathways. Furthermore, miR-375 and IGF1R may serve as a novel therapeutic target for LSCC. [ABSTRACT FROM AUTHOR]

The applicability of liquid chromatography-mass spectrometry (LC/MS) is often limited by throughput. The sharing of a mass spectrometer with multiple LCs significantly improves throughput; however, the reported systems have not been designed to fully utilize the MS duty cycle, and as a result to achieve maximum throughput. To fully utilize the mass spectrometer, the number of LC units that a MS will need to recruit is application dependent and could be significantly larger than the current commercial or published implementations. For the example of a single analyte, the number may approach the peak capacity to a first degree approximation. Here, the construction of a MS system that flexibly recruits any number of LC units demanded by the application is discussed, followed by the method to port a previously developed LC/MS method to the system to fully utilize a mass spectrometer. To demonstrate the performance and operation, a prototypical MS system of eight LC units was constructed. When 1-min chromatographic separations were performed in parallel on the eight LCs of the system, the average LC/MS analysis time per sample was 10.5 s when applied to the analysis of samples in 384-well plate format. This system has been successfully used to conduct large-volume biochemical assays with the analysis of a variety of molecular entities in support of drug discovery efforts. Allowing the recruitment of the number of LC units appropriate for a given application, this system has the potential to be a plug-and-play system to fully utilize a mass spectrometer. Copyright © 2012 John Wiley & Sons, Ltd. [ABSTRACT FROM AUTHOR]

The enzyme-based contained liquid membrane reactor to capture CO2 from the closed spaces is a very complicated process with large numbers of interdependent variables. A theoretical and experimental analysis of facilitated transport of CO2 across a hollow fiber membrane reactor filled with immobilized carbonic anhydrase (CA) by nanocomposite hydrogel was presented. CO2 concentration profiles in the feed gas phase and the membrane wall were achieved by numeric simulation. The effects of CO2 concentration, CA concentration, and flow rate of feed gas on CO2 removal performance were studied in detail, and the model solution agrees with the experimental data with a maximum deviation of up to 18.7%. Moreover, the effect of CO2 concentration on the required membrane areas for the same CO2 removal target (1 kg/day) was also investigated. This could provide real-world data and scientific basis for future development toward a final efficient CO2 removal device. © 2011 American Institute of Chemical Engineers AIChE J, 2012 [ABSTRACT FROM AUTHOR]

An adaptive correlation noise model (CNM) construction algorithm is proposed in this paper to increase the efficiency of parity bits for correcting errors of the side information in transform domain Wyner-Ziv (WZ) video coding. The proposed algorithm introduces two techniques to improve the accuracy of the CNM. First, it calculates the mean of direct current (DC) coefficients of the original WZ frame at the encoder and uses it to assist the decoder to calculate the CNM parameters. Second, by considering the statistical property of the transform domain correlation noise and the motion characteristic of the frame, the algorithm adaptively models the DC coefficients of the correlation noise with the Gaussian distribution for the low motion frames and the Laplacian distribution for the high motion frames, respectively. With these techniques, the proposed algorithm is able to make a more accurate approximation to the real distribution of the correlation noise at the expense of a very slight increment to the coding complexity. The simulation results show that the proposed algorithm can improve the average peak signal-to-noise ratio of the decoded WZ frames by 0.5 dB to 1.5 dB. [ABSTRACT FROM AUTHOR]

A compact asymmetric coplanar strip (ACS)-fed ultra-wideband (UWB) antenna for diversity applications is presented. The proposed antenna is composed of two circular radiating elements and orthogonal ACS-fed mechanisms to achieve diversity performance across the UWB from 2.66 to 11.08 GHz, and occupies a very compact size of 28.5 x 28.5 mm². By introducing a rectangular stub diagonally between the two circular radiating elements, an interport isolation better than 15 dB is achieved. Furthermore, the proposed antenna shows nearly omnidirectional radiation patterns, stable gains and a low envelope correction coefficient. The simple feeding structure, compact size and uniplanar design make it easy to be integrated within the portable device for wireless communications with diversity operations. [ABSTRACT FROM AUTHOR]

A compact asymmetric coplanar strip (ACS)-fed ultra-wideband (UWB) monopole antenna with extra Bluetooth band for various wireless applications is presented. The proposed antenna is composed of a modified ACS-fed structure and a staircase-shaped patch for covering the UWB band (3.1-10.6 GHz), which occupies a very compact size of 32.5 × 10 mm2. By etching a snake-shaped slot in the staircaseshaped patch, an additional band can be realised covering the Bluetooth band (2.4-2.484 GHz). Furthermore, the proposed antenna has been fabricated and measured, and good results obtained. The proposed antenna shows nearly omnidirectional radiation characteristics, relatively consistent group delays and stable gains in the operating bands. The simple feeding structure, compact size and uniplanar design make it easy to be integrated within portable devices for wireless communication. [ABSTRACT FROM AUTHOR]

In traditional compressed sensing methods, imposing sparsity alone usually does not produce the most visually pleasing reconstructed videos. Thus, by leveraging more prior information extracted from the temporal redundancy, a regularised reweighted basis pursuit denoising method with estimated support and signal value is proposed for a compressively sampled video. Moreover, an effective alternating direction method of multipliers is presented to solve the optimization problem. Simulation results show that the proposed method compares favourably with conventional algorithms in the recovery performance. [ABSTRACT FROM AUTHOR]