Background: Norrie disease is a rare X-linked recessive disorder in affected males. The typical features are congenital blindness, progressive hearing impairment, and, in some cases, some degree of mental retardation,...
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Background: Norrie disease is a rare X-linked recessive disorder in affected males. The typical features are congenital blindness, progressive hearing impairment, and, in some cases, some degree of mental retardation, microphthalmia, microcornea, growth failure, and seizures. Norrie disease is caused by mutations in the Norrie disease pseudoglioma gene (NDP), which encodes the Norrin protein that plays a crucial role in vascular development, neural cell differentiation, and proliferation in the retina and cerebellum. The aim of the present study was to identify the geneticcause of the disease and the phenotypiccharacteristics of the patients in an affected chinese family. Materials and Methods: A chinese family with Norrie disease was studied, and clinical phenotypes of the proband were observed. With informed consent from the patients' family, blood samples from family members were collected, genomic DNA was extracted, and Sanger sequencing was performed to identify the disease-causing mutation. Results: The c.287 G > T mutation of NDP was identified by Sanger sequencing and resulted in ***96Phe. The pathogenicity prediction was performed by MutationTaster, Polyphen-2, SIFT, and PROVEAN, all of which suggested that the mutation is disease-causing and may be responsible for the phenotypes of Norrie disease. conclusion: The c.287 G > T of NDP is a novel mutation responsible for Norrie disease in a chinese family.
caO-Al2O3-SiO2/ZrO2-borosilicate (cAS/BG) multilayer glass coating was prepared by slurry method on carbon fiber reinforced carbon matrix (c/c) materials to improve their anti-oxidation ability. The weight loss ratio ...
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caO-Al2O3-SiO2/ZrO2-borosilicate (cAS/BG) multilayer glass coating was prepared by slurry method on carbon fiber reinforced carbon matrix (c/c) materials to improve their anti-oxidation ability. The weight loss ratio of coated c/c samples were 21.70 %, 1.63 %, 0.035 % respectively after 50 h oxidation at 1073 K, 1173 K, 1273 K, and the samples had excellent mechanical properties remaining. compared to single BG layer samples, the added outer cAS layer could effectively inhibit gases diffusing by sealing and healing defects. The increased antioxidation property with the temperature was mainly attributed to the improved healing ability from glass flow and thermal expansion.
Sodium-ion battery has been put into an eager consideration in the large-scale energy storage system, owing to its inexpensive cost ($/kWh) than that of the lithium-ion battery. The gap from research to industry still...
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Sodium-ion battery has been put into an eager consideration in the large-scale energy storage system, owing to its inexpensive cost ($/kWh) than that of the lithium-ion battery. The gap from research to industry still exists, however, including low energy density and unsatisfactory cycling lifespan in full cells. Here we report a Na-ion full cell with spray-dried Na3V2(PO4)2F3/c (NVPF/c) cathode and pre-sodiated hard carbon (Hc) anode. It is demonstrated that the full cells (NVPF-Hc), assembled with 100% presodiated Hc anode, exhibits the best energy storage capability and rate performance. A remarkable reversible capacity of 114.1 mA h g-1 at 0.5c (attaining 95% of capacity for NVPF-Na anode half-cell), a desirable power performance with 90.6 mA h g-1 at a high rate of 20c, and an impressive cycling life (71.8% capacity retention after 600 cycles at 10c) are achieved. The outstanding battery performance is ascribed to that the electroactivity Na+ in Hccan maximize the scavenger effect and forms the more stable solid-electrolyte interface (SEI). Moreover, an Hc pre-sodiation degree dependent Na-ion battery performance is proofed. The findings in this paper offer new insights on the electrode design strategy, which facilitates the development of sodium-ion technology.
In this paper, 316H creep crack growth data at 550 degrees c are analysed to investigate the effect of inplane constraint on creep crack initiation times. A constraint parameter is proposed to quantify the difference ...
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In this paper, 316H creep crack growth data at 550 degrees c are analysed to investigate the effect of inplane constraint on creep crack initiation times. A constraint parameter is proposed to quantify the difference between an actual opening stress and the Riedel-Rice opening stress field in plane strain, using experimentally measured c*. Test data analysis shows that creep crack initiation times can be well characterized by the c* integral with the proposed parameter. A modified form of a model due to Nikbin, Smith and Webster is suggested, and scatter in predictions is shown to be reduced from -40 to -5.
Doping various elements is able to change the structural and electronic properties of two-dimensional aluminum nitride (2D AlN), hence leading to different optical properties. By Density functional theory (DFT) calcul...
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Doping various elements is able to change the structural and electronic properties of two-dimensional aluminum nitride (2D AlN), hence leading to different optical properties. By Density functional theory (DFT) calculation, broken 2D structure and 2pz electron conjugative effects to form intensive covalent bond are observed in c/P codoped 2D AlN, confirming the variation in structure and electron state. Band gap values of c/P co-doped 2D AlN are drastically reduced due to bonding ability enhancement by c atom, which renders c/P coupling anti-bonding state is pushed to valence band. Optical properties are measured at low energy range. Enhanced optical response at Elix and Eliy is attributed to the co-doping of c and P, resulting in improved optical conductivity, adsorption ability, refractive N (omega) and reflectivity R (omega). Especially for 2D Al16N13c2P1 modified by 2 c and 1 P atom doped in N sites (2c/1P), nearly three times increase is detected for optical conductivity.
The oxidation behavior of Ni-25cr-10Fe-3Si-chi Nb (0-3.0 wt.%) alloys were investigated at 1000 degrees c in ambient air. Mass gain obeys the parabolic law, and the parabolic rate constant increased with the Nb conten...
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The oxidation behavior of Ni-25cr-10Fe-3Si-chi Nb (0-3.0 wt.%) alloys were investigated at 1000 degrees c in ambient air. Mass gain obeys the parabolic law, and the parabolic rate constant increased with the Nb content due to the formation of the Laves phase. During oxidation, Nb atoms were released from the Laves phase lattice and reacted with oxygen to form Nb2O5. Oxygen could diffuse into the alloy and be combined with the Si in the Laves phase to form internal oxidation. The outer layer of oxide scales is cr2O3 and Nb2O5, and the inner layer is SiO2.
cu foam has previously been investigated and verified to be an excellent interlayer candidate for relieving high residual stress within c/ccomposite-Nb brazed joints. However, the optimized geometric structure of cu ...
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cu foam has previously been investigated and verified to be an excellent interlayer candidate for relieving high residual stress within c/ccomposite-Nb brazed joints. However, the optimized geometric structure of cu foam for brazing has never been properly investigated since it was always employed as a reactant for acquiring homogeneous distribution of the interfacial structures in the brazed joints. In this work, graphene reinforced cu foam composite (G-cu-f) interlayers were used for brazing c/ccomposite and Nb. Through the protection effect of graphene on the cu foam substrate, the impact of porosity and thickness of a structurally intact cu foam on the joint structure and properties were investigated by finite elemental analysis as well as through experimental studies. By introducing a G-cu-f interlayer with an optimized porosity of 90% and thickness of 0.15 mm, the shear strength of the c/ccomposite-Nb brazed joint reached 45 MPa, which is 3.5 times higher than that of the joint brazed directly without an interlayer. The strain energy of the brazed joint assisted by G-cu-f interlayer reduced from as high as 10.98 x 10(-6) J to 6.90 x 10(-6) J, suggesting that the residual stress was effectively mitigated.
corrosion behavior of the Wc-12co and enamel coatings in liquid Zn-55Al alloy is investigated comparatively. Serious corrosion consumes over 40 mu m of the Wc-12co coating after 100 h immersion. co dissolution occurs ...
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corrosion behavior of the Wc-12co and enamel coatings in liquid Zn-55Al alloy is investigated comparatively. Serious corrosion consumes over 40 mu m of the Wc-12co coating after 100 h immersion. co dissolution occurs firstly by forming Zn-co solid solution and then intermetalliccompounds. Wc is decarburized and reacts with Al to form WAl5 at high temperature. The enamel coating suffers quite slight corrosion. Porous gamma-Al2O3 layer develops at surface, which then reacts with the enamel to form a continuous caAl4O7 interlayer that prevents the further invasion of Al and provides the high corrosion resistance.
Developing effective non-precious metal catalysts for oxygen reduction reaction (ORR) is of great importance in a wide range of clean electrochemical energy conversion technologies. In this work, N-free heteroatoms (B...
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Developing effective non-precious metal catalysts for oxygen reduction reaction (ORR) is of great importance in a wide range of clean electrochemical energy conversion technologies. In this work, N-free heteroatoms (B, S) single- and dual-doped co/ccatalysts for ORR are synthesized, characterized and compared with respect to their ORR catalytic performances. Electrochemical results show that BS-co/c has a high ORR catalytic performance with an ORR peak potential (865 mV) and a half-wave potential (850 mV), better than both B-co/c (842 mV and 818 mV) and S-co/c (859 mV and 842 mV). Moreover, BS-co/c has a main 4-electron ORR pathway, a good stability and strong methanol-tolerance. compared to B-co/c and S-co/c, a synergistic ORR catalysis of BS-co/c is observed in this work. The results of several structural characterizations indicate that this BS-co/c possesses a structure of B and S dual-doped carbon with amorphous co to improve the ORR catalytic performance.
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