85 research outputs found
Effects of Hydraulic Gradient, Intersecting Angle, Aperture, and Fracture Length on the Nonlinearity of Fluid Flow in Smooth Intersecting Fractures: An Experimental Investigation
This study experimentally investigated the nonlinearity of fluid flow in smooth intersecting fractures with a high Reynolds number and high hydraulic gradient. A series of fluid flow tests were conducted on one-inlet-two-outlet fracture patterns with a single intersection. During the experimental tests, the syringe pressure gradient was controlled and varied within the range of 0.20–1.80 MPa/m. Since the syringe pump used in the tests provided a stable flow rate for each hydraulic gradient, the effects of hydraulic gradient, intersecting angle, aperture, and fracture length on the nonlinearities of fluid flow have been analysed for both effluent fractures. The results showed that as the hydraulic gradient or aperture increases, the nonlinearities of fluid flow in both the effluent fractures and the influent fracture increase. However, the nonlinearity of fluid flow in one effluent fracture decreased with increasing intersecting angle or increasing fracture length, as the nonlinearity of fluid flow in the other effluent fracture simultaneously increased. In addition, the nonlinearities of fluid flow in each of the effluent fractures exceed that of the influent fracture
Impact of functional studies on exome sequence variant interpretation in early-onset cardiac conduction system diseases
Aims
The genetic cause of cardiac conduction system disease (CCSD) has not been fully elucidated. Whole-exome sequencing (WES) can detect various genetic variants; however, the identification of pathogenic variants remains a challenge. We aimed to identify pathogenic or likely pathogenic variants in CCSD patients by using WES and 2015 American College of Medical Genetics and Genomics (ACMG) standards and guidelines as well as evaluating the usefulness of functional studies for determining them.
Methods and Results
We performed WES of 23 probands diagnosed with early-onset (<65 years) CCSD and analyzed 117 genes linked to arrhythmogenic diseases or cardiomyopathies. We focused on rare variants (minor allele frequency < 0.1%) that were absent from population databases. Five probands had protein truncating variants in EMD and LMNA which were classified as “pathogenic” by 2015 ACMG standards and guidelines. To evaluate the functional changes brought about by these variants, we generated a knock-out zebrafish with CRISPR-mediated insertions or deletions of the EMD or LMNA homologs in zebrafish. The mean heart rate and conduction velocities in the CRISPR/Cas9-injected embryos and F2 generation embryos with homozygous deletions were significantly decreased. Twenty-one variants of uncertain significance were identified in 11 probands. Cellular electrophysiological study and in vivo zebrafish cardiac assay showed that 2 variants in KCNH2 and SCN5A, 4 variants in SCN10A, and 1 variant in MYH6 damaged each gene, which resulted in the change of the clinical significance of them from “Uncertain significance” to “Likely pathogenic” in 6 probands.
Conclusions
Of 23 CCSD probands, we successfully identified pathogenic or likely pathogenic variants in 11 probands (48%). Functional analyses of a cellular electrophysiological study and in vivo zebrafish cardiac assay might be useful for determining the pathogenicity of rare variants in patients with CCSD. SCN10A may be one of the major genes responsible for CCSD.
Translational Perspective
Whole-exome sequencing (WES) may be helpful in determining the causes of cardiac conduction system disease (CCSD), however, the identification of pathogenic variants remains a challenge. We performed WES of 23 probands diagnosed with early-onset CCSD, and identified 12 pathogenic or likely pathogenic variants in 11 of these probands (48%) according to the 2015 ACMG standards and guidelines. In this context, functional analyses of a cellular electrophysiological study and in vivo zebrafish cardiac assay might be useful for determining the pathogenicity of rare variants, and SCN10A may be one of the major development factors in CCSD
Effects of Hydraulic Gradient, Intersecting Angle, Aperture, and Fracture Length on the Nonlinearity of Fluid Flow in Smooth Intersecting Fractures: An Experimental Investigation
This study experimentally investigated the nonlinearity of fluid flow in smooth intersecting fractures with a high Reynolds number and high hydraulic gradient. A series of fluid flow tests were conducted on one-inlet-two-outlet fracture patterns with a single intersection. During the experimental tests, the syringe pressure gradient was controlled and varied within the range of 0.20–1.80 MPa/m. Since the syringe pump used in the tests provided a stable flow rate for each hydraulic gradient, the effects of hydraulic gradient, intersecting angle, aperture, and fracture length on the nonlinearities of fluid flow have been analysed for both effluent fractures. The results showed that as the hydraulic gradient or aperture increases, the nonlinearities of fluid flow in both the effluent fractures and the influent fracture increase. However, the nonlinearity of fluid flow in one effluent fracture decreased with increasing intersecting angle or increasing fracture length, as the nonlinearity of fluid flow in the other effluent fracture simultaneously increased. In addition, the nonlinearities of fluid flow in each of the effluent fractures exceed that of the influent fracture
Realization and field emission of CdSe nano-tetrapods with different arm lengths
The arms of CdSe nano-tetrapods can be greatly elongated with the core diameters and arm width unchanged by multiple injections. Room-temperature absorption and photoluminescence (PL) spectra of tetrapods with different arm lengths show that these tetrapods have almost the same core size, which is consistent with the high resolution TEM results. Field emission characteristics show that the onset field required drawing a current density of similar to 0.1 mu A cm(-2) from CdSe nano-tetrapods with different arm lengths are 22 V mu m(-1), 9 V mu m(-1), and 4 V mu m(-1), respectively, and the field enhancement factors are determined to be about 218, 554, and 946, respectively. Results show that the longer is the arm of the tetrapods, the lower the turn-on field and the higher the field enhancement factor. (c) 2009 Elsevier B.V. All rights reserved
Effects of soil data and simulation unit resolution on quantifying changes of soil organic carbon at regional scale with a biogeochemical process model.
Soil organic carbon (SOC) models were often applied to regions with high heterogeneity, but limited spatially differentiated soil information and simulation unit resolution. This study, carried out in the Tai-Lake region of China, defined the uncertainty derived from application of the DeNitrification-DeComposition (DNDC) biogeochemical model in an area with heterogeneous soil properties and different simulation units. Three different resolution soil attribute databases, a polygonal capture of mapping units at 1:50,000 (P5), a county-based database of 1:50,000 (C5) and county-based database of 1:14,000,000 (C14), were used as inputs for regional DNDC simulation. The P5 and C5 databases were combined with the 1:50,000 digital soil map, which is the most detailed soil database for the Tai-Lake region. The C14 database was combined with 1:14,000,000 digital soil map, which is a coarse database and is often used for modeling at a national or regional scale in China. The soil polygons of P5 database and county boundaries of C5 and C14 databases were used as basic simulation units. Results project that from 1982 to 2000, total SOC change in the top layer (0-30 cm) of the 2.3 M ha of paddy soil in the Tai-Lake region was +1.48 Tg C, -3.99 Tg C and -15.38 Tg C based on P5, C5 and C14 databases, respectively. With the total SOC change as modeled with P5 inputs as the baseline, which is the advantages of using detailed, polygon-based soil dataset, the relative deviation of C5 and C14 were 368% and 1126%, respectively. The comparison illustrates that DNDC simulation is strongly influenced by choice of fundamental geographic resolution as well as input soil attribute detail. The results also indicate that improving the framework of DNDC is essential in creating accurate models of the soil carbon cycle
A new route for the electrodeposition of platinum-nickel alloy nanoparticles on multi-walled carbon nanotubes
An electrochemical method was developed to deposit platinum (Pt) and nickel (Ni) nanoparticles on multi-walled carbon nanotubes (MWCNTs) through a three-step process. X-ray diffraction (XRD) and energy dispersive X-ray spectroscopy (EDX) show the alloy formation for Pt and Ni with a ratio of 1:1. The presence of Pt(0), Ni(0), Ni(OH)2, NiOOH and slight NiO was deduced from XPS data. Electrocatalytic properties of the resulting PtNi/MWCNT electrode for methanol oxidation reaction were investigated. Compared with Pt/MWCNT, an appreciably improved resistance to CO poisoning was observed for the PtNi/MWCNT electrode, which was interpreted by a mechanism based on the bifunctional catalysis. The successful preparation of PtNi/MWCNT nanocomposites opens a new path for an efficient dispersion of the promising electrocatalysts in the direct methanol fuel cells. (C) 2007 Elsevier Ltd. All rights reserved
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