17 research outputs found

    Genetic characteristics of common variable immunodeficiency patients with autoimmunity

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    Background: The pathogenesis of common variable immunodeficiency disorder (CVID) is complex, especially when combined with autoimmunity. Genetic factors may be potential explanations for this complex situation, and whole genome sequencing (WGS) provide the basis for this potential.Methods: Genetic information of patients with CVID with autoimmunity, together with their first-degree relatives, was collected through WGS. The association between genetic factors and clinical phenotypes was studied using genetic analysis strategies such as sporadic and pedigree.Results: We collected 42 blood samples for WGS (16 CVID patients and 26 first-degree relatives of healthy controls). Through pedigree, sporadic screening strategies and low-frequency deleterious screening of rare diseases, we obtained 9,148 mutation sites, including 8,171 single-nucleotide variants (SNVs) and 977 Insertion-deletions (InDels). Finally, we obtained a total of 28 candidate genes (32 loci), of which the most common mutant was LRBA. The most common autoimmunity in the 16 patients was systematic lupus erythematosis. Through KEGG pathway enrichment, we identified the top ten signaling pathways, including “primary immunodeficiency”, “JAK-STAT signaling pathway”, and “T-cell receptor signaling pathway”. We used PyMOL to predict and analyse the three-dimensional protein structures of the NFKB1, RAG1, TIRAP, NCF2, and MYB genes. In addition, we constructed a PPI network by combining candidate mutants with genes associated with CVID in the OMIM database via the STRING database.Conclusion: The genetic background of CVID includes not only monogenic origins but also oligogenic effects. Our study showed that immunodeficiency and autoimmunity may overlap in genetic backgrounds.Clinical Trial Registration: identifier ChiCTR210004403

    Informing patients about intermittent urinary catheterization in transcultural patient-nurse interactions

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    Summary: The aim of this study was to explore the methods of informing patients about intermittent urinary catheterization performed by a nurse who has a different cultural background than the patient. It was vital to find out beneficial methods of providing information to the patients and how to consider the patient’s cultural background in this process. The theoretical framework used in this study was Joyce Newman Giger and Ruth Davidhizar’s (2008) “Transcultural Assessment Model”. The study pointed out that difficulties appear in the intermittent urinary catheterization information provision if there is no common language between the patient and the nurse, since written materials and IT-based program information is always combined with oral interaction. Therefore, the communication difficulties were the most significant result of the study. Cultural awareness among nurses enhances the nurses’ ability to provide culturally competent care

    Theoretical Predictions of Structure, Mechanics, Dislocation, and Electronics Properties of FeTi Alloy at High Pressure

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    The influences of applied pressure on the structure, mechanics, dislocation, and electronics properties of an FeTi hydrogen storage alloy are theoretically investigated via first-principles calculations. The lattice parameter ratio, elastic constant, Young’s modulus, bulk modulus, shear modulus, ductile/brittle, Poisson’s ratio, anisotropy, Cauchy pressure, yield strength, Vickers hardness and energy factor are discussed versus applied pressure. The results show that the FeTi alloy exhibits good mechanical stability under applied pressure between 0 and 50 GPa, and the mechanical properties are significantly improved under applied pressure, like the resistances to elastic, bulk, and shear deformations, the material ductility and metallicity, as well as Vickers hardness and yield strength. Moreover, the electronic structures reveal that the FeTi alloy has metallic properties and the structural stability of the FeTi hydrogen storage alloy is enhanced at high pressure. This work provides significant value for high-pressure applications of FeTi alloys in hydrogen storage and supply fields

    Ground Subsidence Investigation in Fuoshan, China, Based on SBAS-InSAR Technology with TerraSAR-X Images

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    Highways built on soft clay subgrade are more prone to subsidence due to the geotechnical characteristics of soft clay. Monitoring ground movements in this area is significant for understanding the deformation dynamics and reducing maintenance cost as well. In this paper, small baseline subset synthetic aperture radar interferometry (SBAS-InSAR) technique is exploited to obtain and investigate the time series ground surface deformation after the construction of a road embankment over soft clay settlement. Considering the important effect of temporal deformation models on the final accuracy of estimated deformation, both the linear velocity model and seasonal deformation model are utilized to conduct the comparative investigation of deformation time series. Two highways in Fuoshan, China—G1501 Guangzhou Belt Highway and Lungui Highway—were selected as the test area. Thirteen TerraSAR-X images acquired from October 2014 to November 2015 were analyzed. Comparative study based on two groups of analyses generated from the two models for both highways were conducted. Consequently, several feature points distributed near the two highways were analyzed in detail to understand the temporal evolution of the settlement. In order to evaluate the reliability of our measurements, the residual phase was analyzed to assess the modelling accuracy of the two models. In addition, leveling data were also used to validate the experimental results. Our measurements suggest that the seasonal model is more suitable for the test highways, with an accuracy of ±3 mm with respect to the leveling results

    Biotransformation of Artemisinin by Aspergillus niger

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    Biotransformation of artemisinin (1) by Aspergillus niger was investigated. During 12 days at 28 °C and pH 6.0, A. niger transformed artemisinin into four products. They were identified as 3β-hydroxy-4,12-epoxy-1-deoxyartemisinin (2), artemisinin G (3), 3,13-epoxyartemisinin (4), and 4α-hydroxy-1-deoxyartemisinin (5). Products 2 and 4 are new compounds and are being reported here for the first time. The product 4 contains a 3,13-epoxy structure. This is the first report of epoxidation of artemisinin using microbial strains. The product 4 still has an intact peroxide bridge and therefore can be used as a scaffold for further structural modification using chemical and biological methods in the search for new antimalarial drugs

    Efficient stabilization of cubic perovskite SrCoO3-δ by B-site low concentration scandium doping combined with sol-gel synthesis

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    SrCoO is a material with multiple phase structures. The influence of Sc doping in the B-site of SrCoO on its lattice structure/phase stability, electrical conductivity, and cathode performance for intermediate-temperature solid oxide fuel cells (IT-SOFCs) was investigated by X-ray diffraction, four-probe dc conductivity and impedance spectroscopy measurements, respectively. The introduction of large-size Sc (0.745 Å) cation together with the sol-gel synthesis technique, led to a substantial stabilization of the cubic phase of SrCoO-even at a Sc doping amount as low as 5 mol%. Such stabilization resulted in a sharp increase in the electrical conductivity of the material, which was found to be p-type in nature. A maximum electrical conductivity and favourable cubic phase stability of the material was reached at the Sc doping concentration of 5-10 mol%. A further increase of Sc doping, however, lowered the electrical conductivity due to the blocking effect of Sc for the electron conduction. An area specific resistance (ASR) as low as 0.25 Ωcm was reached at 600 °C for SrScCoO as a cathode material based on SmCeO electrolyte

    High performance electrode for electrochemical oxygen generator cell based on solid electrolyte ion transport membrane

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    A double-layer composite electrode based on Ba0.5Sr0.5Co0.8Fe0.2O3-delta + Sm0.2Ce0.8O1.9 (BSCF + SDC) and BSCF + SDC + Ag was investigated to be a promising cathode and also anode for the electrochemical oxygen generator based on samaria doped ceria electrolyte. The Ag particles in the second layer were not only the current collector but also the improver for the oxygen adsorption at the electrode. a.c. impedance results indicated that the electrode polarization resistance, as low as 0.0058 Omega cm(2) was reached at 800 degrees C under air. In oxygen generator cell performance test, the electrode resistance dropped to half of the value at zero current density under an applied current density of 2.34 A cm(-2) at 700 degrees C, and on the same conditions the oxygen generator cell was continual working for more than 900 min a Faradic efficiency of similar to 100%. (c) 2007 Elsevier Ltd. All rights reserved

    Extracellular biosynthesis of monodispersed gold nanoparticles by a SAM capping route

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    Monodispersed gold nanoparticles capped with a self-assembled monolayer of dodecanethiol were biosynthesized extracellularly by an efficient, simple, and environmental friendly procedure, which involved the use of Bacillus megatherium D01 as the reducing agent and the use of dodecanethiol as the capping ligand at 26 A degrees C. The kinetics of gold nanoparticle formation was followed by transmission electron microscope (TEM) and UV-vis spectroscopy. It was shown that reaction time was an important parameter in controlling the morphology of gold nanoparticles. The effect of thiol on the shape, size, and dispersity of gold nanoparticles was also studied. The results showed that the presence of thiol during the biosynthesis could induce the formation of small size gold nanoparticles (< 2.5 nm), hold the shape of spherical nanoparticles, and promote the monodispersity of nanoparticles. Through the modulation of reaction time and the use of thiol, monodispersed spherical gold nanoparticles capped with thiol of 1.9 +/- A 0.8 nm size were formed by using Bacillus megatherium D01.National Natural Science Foundation of China [20433040, 20423002]; State Key Laboratory for Physical Chemistry of the Solid Surface, Xiamen University of China [200408

    Metal-support interaction boosted electrocatalysis of ultrasmall iridium nanoparticles supported on nitrogen doped graphene for highly efficient water electrolysis in acidic and alkaline media

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    Metal-support interaction boosted electrocatalysis of ultrasmall iridium nanoparticles supported on nitrogen doped graphene for highly efficient water electrolysis in acidic and alkaline medi
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