985 resultados para Direct sequencing
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The understanding of the loads generated within the prosthetic leg can aid engineers in the design of components and clinicians in the process of rehabilitation. Traditional methods to assess these loads have relied on inverse dynamics. This indirect method estimates the applied load using video recordings and force-plates located at a distance from the region of interest, such as the base of the residuum. The well-known limitations of this method are related to the accuracy of this recursive model and the experimental conditions required (Frossard et al., 2003). Recent developments in sensors (Frossard et al., 2003) and prosthetic fixation (Brånemark et al., 2000) permit the direct measurement of the loads applied on the residuum of transfemoral amputees. In principle, direct measurement should be an appropriate tool for assessing the accuracy of inverse dynamics. The purpose of this paper is to determine the validity of this assumption. The comparative variable used in this study is the velocity of the relative body center of mass (VCOM(t)). The relativity is used to align the static (w.r.t. position) force plate measurement with the dynamic load cell measurement.
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The understanding of the load applied on the residuum through the prosthesis of individuals with transfemoral amputation (TFA) is essential to address a number of concerns that could strongly reduce their quality of life (e.g., residuum skin lesion, prosthesis fitting, alignment). This inner prosthesis loading could be estimated using a typical gait laboratory relying on inverse dynamics equations. Alternative, technological advances proposed over the last decade enabled direct measurement of this kinetic information in a broad variety of situations that could potentially be more relevant in clinical settings. The purposes of this presentation are (A) to review the literature about recent developments in measure and analyses of inner prosthesis loading of TFA, and (B) to extract information that could potentially contribute to a better evidence-based practice.
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The demand for an evidence-based clinical practice involving lower limb amputees is increasing. Some of the critical care decisions are related to the loading applied on the residuum partially responsible for comfort and functional outcome. This loading can be assessed using inverse dynamics equations. Typically, this method requires a gait laboratory (e.g., 3D motion analysis system, force-plates). It is mainly suited for the analysis only few steps of walking while being expensive and labour intensive. However, recent scientific and industrial developments demonstrated that discrete and light portable sensors can be placed within the prosthesis to measure accurately the loading during an unlimited number of steps and activities of daily living. Several studies indicated that method based on direct measurements might provide more realistic results. Furthermore, it is a user-friendly method more accessible to clinicians, such as prosthetists. The purpose of this symposium will be to give an overview of these additional opportunities for clinicians to obtain relevant data for evidence-based practice. The three main aims will be: • To present some of the equipment used for direct measurements, • To propose ways to analyse some key data sets, • To give some practical example of data sets for transtibial and transfemoral amputees.
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Next-generation sequencing techniques have revolutionized over the last decade providing researchers with low cost, high-throughput alternatives compared to the traditional Sanger sequencing methods. These sequencing techniques have rapidly evolved from first-generation to fourth-generation with very broad applications such as unravelling the complexity of the genome, in terms of genetic variations, and having a high impact on the biological field. In this review, we discuss the transition of sequencing from the second-generation to the third- and fourth-generations, and describe some of their novel biological applications. With the advancement in technology, the earlier challenges of minimal size of the instrument, flexibility of throughput, ease of data analysis and short run times are being addressed. However, the need for prospective analysis and effectiveness to test whether the knowledge of any given new variants identified has an effect on clinical outcome may need improvement.
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The scale of environmental problems in China is clearly evident. This paper analyses foreign direct investment (FDI) in China with a finite mixture model, also known as latent class model to understand the relationship between FDI and several pollutions. This is used to regresses FDI as function covariates including pollutants. The results reveal that FDI is affected by pollutants. There are cases reducing pollution deters foreign investment in China.
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We propose in this paper a new method for the mapping of hippocampal (HC) surfaces to establish correspondences between points on HC surfaces and enable localized HC shape analysis. A novel geometric feature, the intrinsic shape context, is defined to capture the global characteristics of the HC shapes. Based on this intrinsic feature, an automatic algorithm is developed to detect a set of landmark curves that are stable across population. The direct map between a source and target HC surface is then solved as the minimizer of a harmonic energy function defined on the source surface with landmark constraints. For numerical solutions, we compute the map with the approach of solving partial differential equations on implicit surfaces. The direct mapping method has the following properties: (1) it has the advantage of being automatic; (2) it is invariant to the pose of HC shapes. In our experiments, we apply the direct mapping method to study temporal changes of HC asymmetry in Alzheimer's disease (AD) using HC surfaces from 12 AD patients and 14 normal controls. Our results show that the AD group has a different trend in temporal changes of HC asymmetry than the group of normal controls. We also demonstrate the flexibility of the direct mapping method by applying it to construct spherical maps of HC surfaces. Spherical harmonics (SPHARM) analysis is then applied and it confirms our results on temporal changes of HC asymmetry in AD.
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The number of pedestrian victims at Australian and foreign level crossings has remained stable over the past decade and it continues to be a significant problem. To examine the factors contributing to pedestrians’ unsafe crossing behaviours, direct observations were conducted at three black spot urban level crossings in Brisbane for a total of 45 h during morning and afternoon peak. In total, 129 pedestrians transgressed the active controls. More transgressions were observed at the crossings located in more populated suburbs in close proximity to large shopping centres and school zones, whereas the smallest number of transgressions were observed at the least populated locations. In addition to characteristics associated with the larger socio-economic area, the patterns of transgression could be associated with the properties of the existing safety equipment and the design of each level crossing (i.e. location of the platforms, number of rail tracks). Indeed, the largest number of crossed unoccupied but “at risk” rail tracks (where a train could have passed), was observed at the crossing with the least transgressions. Contrary to previous findings, younger adults were the most frequent transgressors. School children and elderly were most likely to transgress in groups. Potential directions for future research and more effective measures are discussed.
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This study presents a comprehensive mathematical model for open pit mine block sequencing problem which considers technical aspects of real-life mine operations. As the open pit block sequencing problem is an NP-hard, state-of-the-art heuristics algorithms, including constructive heuristic, local search, simulated annealing, and tabu search are developed and coded using MATLAB programming language. Computational experiments show that the proposed algorithms are satisfactory to solve industrial-scale instances. Numerical investigation and sensitivity analysis based on real-world data are also conducted to provide insightful and quantitative recommendations for mine schedulers and planners.
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Objective Ankylosing spondylitis (AS) is a highly heritable common inflammatory arthritis that targets the spine and sacroiliac joints of the pelvis, causing pain and stiffness and leading eventually to joint fusion. Although previous studies have shown a strong association of IL23R with AS in white Europeans, similar studies in East Asian populations have shown no association with common variants of IL23R, suggesting either that IL23R variants have no role or that rare genetic variants contribute. The present study was undertaken to screen IL23R to identify rare variants associated with AS in Han Chinese. Methods A 170-kb region containing IL23R and its flanking regions was sequenced in 50 patients with AS and 50 ethnically matched healthy control subjects from a Han Chinese population. In addition, the 30-kb region of peak association in white Europeans was sequenced in 650 patients with AS and 1,300 healthy controls. Validation genotyping was undertaken in 846 patients with AS and 1,308 healthy controls. Results We identified 1,047 variants, of which 729 were not found in the dbSNP genomic build 130. Several potentially functional rare variants in IL23R were identified, including one nonsynonomous single-nucleotide polymorphism (nsSNP), Gly149Arg (position 67421184 GA on chromosome 1). Validation genotyping showed that the Gly149Arg variant was associated with AS (odds ratio 0.61, P = 0.0054). Conclusion This is the first study to implicate rare IL23R variants in the pathogenesis of AS. The results identified a low-frequency nsSNP with predicted loss-of-function effects that was protectively associated with AS in Han Chinese, suggesting that decreased function of the interleukin-23 (IL-23) receptor protects against AS. These findings further support the notion that IL-23 signaling has an important role in the pathogenesis of AS.
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Background Genetic testing is recommended when the probability of a disease-associated germline mutation exceeds 10%. Germline mutations are found in approximately 25% of individuals with phaeochromcytoma (PCC) or paraganglioma (PGL); however, genetic heterogeneity for PCC/PGL means many genes may require sequencing. A phenotype-directed iterative approach may limit costs but may also delay diagnosis, and will not detect mutations in genes not previously associated with PCC/PGL. Objective To assess whether whole exome sequencing (WES) was efficient and sensitive for mutation detection in PCC/PGL. Methods Whole exome sequencing was performed on blinded samples from eleven individuals with PCC/PGL and known mutations. Illumina TruSeq™ (Illumina Inc, San Diego, CA, USA) was used for exome capture of seven samples, and NimbleGen SeqCap EZ v3.0 (Roche NimbleGen Inc, Basel, Switzerland) for five samples (one sample was repeated). Massive parallel sequencing was performed on multiplexed samples. Sequencing data were called using Genome Analysis Toolkit and annotated using annovar. Data were assessed for coding variants in RET, NF1, VHL, SDHD, SDHB, SDHC, SDHA, SDHAF2, KIF1B, TMEM127, EGLN1 and MAX. Target capture of five exome capture platforms was compared. Results Six of seven mutations were detected using Illumina TruSeq™ exome capture. All five mutations were detected using NimbleGen SeqCap EZ v3.0 platform, including the mutation missed using Illumina TruSeq™ capture. Target capture for exons in known PCC/PGL genes differs substantially between platforms. Exome sequencing was inexpensive (<$A800 per sample for reagents) and rapid (results <5 weeks from sample reception). Conclusion Whole exome sequencing is sensitive, rapid and efficient for detection of PCC/PGL germline mutations. However, capture platform selection is critical to maximize sensitivity.
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The self-assembly of layered molybdenum disulfide–graphene (MoS2–Gr) and horseradish peroxidase (HRP) by electrostatic attraction into a novel hybrid nanomaterial (HRP–MoS2–Gr) is reported. The properties of the MoS2–Gr were characterized by X-ray diffraction (XRD), high-resolution transmission electron microscopy (TEM), electrochemical impedance spectroscopy (EIS) and cyclic voltammetry (CV). UV–vis and Fourier transform infrared spectroscopy (FT-IR) indicate that the native structure of the HRP is maintained after the assembly, implying good biocompatibility of MoS2–Gr nanocomposite. Furthermore, the HRP–MoS2–Gr composite is utilized as a biosensor, which displays electrocatalytic activity to hydrogen peroxide (H2O2) with high sensitivity (679.7 μA mM−1 cm−2), wide linear range (0.2 μM–1.103 mM), low detection limit (0.049 μM), and fast amperometric response. In addition, the biosensor also exhibits strong anti-interference ability, satisfactory stability and reproducibility. These desirable electrochemical properties are attributed to the good biocompatibility and electron transport efficiency of the MoS2–Gr composite, as well as the high loading of HRP. Therefore, this biosensor is potentially suitable for H2O2 analysis in environmental, pharmaceutical, food or industrial applications.
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Melt electrospinning and its additive manufacturing analogue, melt electrospinning writing (MEW), are two processes which can produce porous materials for applications where solvent toxicity and accumulation in solution electrospinning are problematic. This study explores the melt electrospinning of poly(ε-caprolactone) (PCL) scaffolds, specifically for applications in tissue engineering. The research described here aims to inform researchers interested in melt electrospinning about technical aspects of the process. This includes rapid fiber characterization using glass microscope slides, allowing influential processing parameters on fiber morphology to be assessed, as well as observed fiber collection phenomena on different collector substrates. The distribution and alignment of melt electrospun PCL fibers can be controlled to a certain degree using patterned collectors to create large numbers of scaffolds with shaped macroporous architectures. However, the buildup of residual charge in the collected fibers limits the achievable thickness of the porous template through such scaffolds. One challenge identified for MEW is the ability to control charge buildup so that fibers can be placed accurately in close proximity, and in many centimeter heights. The scale and size of scaffolds produced using MEW, however, indicate that this emerging process will fill a technological niche in biofabrication.
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Visible light can drive esteri fi cation from aldehydes and alcohols using supported gold nanoparticles (Au/Al 2 O 3 ) as photo- catalysts at ambient temperatures. The gold nanoparticles (AuNPs) absorb visible light due to the localized surface plasmon resonance (LSPR) e ff ect, and the conduction electrons of the AuNPs gain the energy of the incident light. The energetic electrons, which concentrate at the NP surface, facilitate the activation of a range of aldehyde and alcohol substrates. The photocatalytic e ffi ciencies strongly depend on the Au loading, particle sizes of the AuNPs, irradiance, and wavelength of the light irradiation. Finally, a plausible reaction mechanism was proposed, and the Au/Al 2 O 3 catalysts can be reused several times without signi fi cantly losing activity. The knowledge acquired in this study may inspire further studies in new e ffi cient recyclable photocatalysts and a wide range of organic synthesis driven by sunlight.
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Recent advances in direct-use plasmonic-metal nanoparticles (NPs) as photocatalysts to drive organic synthesis reactions under visible-light irradiation have attracted great interest. Plasmonic-metal NPs are characterized by their strong interaction with visible light through excitation of the localized surface plasmon resonance (LSPR). Herein, we review recent developments in direct photocatalysis using plasmonic-metal NPs and their applications. We focus on the role played by the LSPR of the metal NPs in catalyzing organic transformations and, more broadly, the role that light irradiation plays in catalyzing the reactions. Through this, the reaction mechanisms that these light-excited energetic electrons promote will be highlighted. This review will be of particular interest to researchers who are designing and fabricating new plasmonic-metal NP photocatalysts by identifying important reaction mechanisms that occur through light irradiation.
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The production mechanism of OH radicals in a pulsed DC plasma jet is studied by a two-dimensional (2-D) plasma jet model and a one-dimensional (1-D) discharge model. For the plasma jet in the open air, electron-impact dissociation of H2O, electron neutralization of H2O+, as well as dissociation of H2O by O(1D) are found to be the main reactions to generate the OH species. The contribution of the dissociation of H2O by electron is more than the others. The additions of N2, O2, air, and H2O into the working gas increase the OH density outside the tube slightly, which is attributed to more electrons produced by Penning ionization. On the other hand, the additions of O2 and H2O into the working gas increase the OH density inside the tube substantially, which is attributed to the increased O (1D) and H2O concentration, respectively. The gas flow will transport high density OH out of the tube during pulse off period. It is also shown that the plasma chemistry and reactivity can be effectively controlled by the pulse numbers. These results are supported by the laser induced fluorescence measurements and are relevant to several applications of atmospheric-pressure plasmas in health care, medicine, and materials processing.