Deletion of the V2 vasopressin receptor gene in two Chinese patients with nephrogenic diabetes insipidus

BACKGROUND: Congenital nephrogenic diabetes insipidus (NDI) is a rare X-linked inherited disorder characterized by the excretion of large volumes of diluted urine and caused by mutations in arginine vasopressin receptor 2 (AVPR2) gene. To investigate the mutation of AVPR2 gene in a Chinese family with congenital NDI, we screened AVPR2 gene in two NDI patients and eight family members by PCR amplification and direct sequencing. RESULTS: Five specific fragments, covering entire coding sequence and their flanking intronic sequences of AVPR2 gene, were not observed in both patients, while those fragments were all detected in the control subjects. Several different fragments around the AVPR2 locus were amplified step by step. It was revealed that a genomic fragment of 5,995-bp, which contained the entire AVPR2 gene and the last exon (exon 22) of the C1 gene, was deleted and a 3-bp (GAG) was inserted. Examination of the other family members showed that the mothers and the grandmother were carriers for this deletion. CONCLUSION: Our findings suggest that the two patients in a Chinese family suffering from congenital NDI had a 5,995-bp deletion and 3-bp (GAG) insertion at Xq28. The deletion contained the entire AVPR2 gene and exon 22 of the C1 gene

Waste Seashells as a Highly Active Catalyst for Cyclopentanone Self-Aldol Condensation

For the first time, waste-seashell-derived CaO catalysts were used as high-performance solid base catalysts for cyclopentanone self-condensation, which is an important reaction in bio-jet fuel or perfume precursor synthesis. Among the investigated seashell-derived catalysts, Scapharca Broughtonii-derived CaO catalyst (S-shell-750) exhibited the highest dimer yield (92.1%), which was comparable with commercial CaO (88.2%). The activity sequence of different catalysts was consistent with the CaO purity sequence and contact angle sequence. X-ray diffraction (XRD) results showed that CaCO3 in waste shell were completely converted to CaO after calcination at 750 °C or above for 4 h. CO2 temperature-programmed desorption (CO2-TPD) results indicate that both the amount and strength of base sites increase significantly when the calcination temperature climbs to 750 °C. Therefore, we can attribute the excellent performance of S-shell-750/850/950 catalysts to the higher CaO content, relatively low hydrophilicity, and stronger acidity and basicity of this catalyst. This study developed a new route for waste shell utilization in bio-derived ketone aldol condensation

Deletion of the V2 vasopressin receptor gene in two Chinese patients with nephrogenic diabetes insipidus

Abstract Background Congenital nephrogenic diabetes insipidus (NDI) is a rare X-linked inherited disorder characterized by the excretion of large volumes of diluted urine and caused by mutations in arginine vasopressin receptor 2 (AVPR2) gene. To investigate the mutation of AVPR2 gene in a Chinese family with congenital NDI, we screened AVPR2 gene in two NDI patients and eight family members by PCR amplification and direct sequencing. Results Five specific fragments, covering entire coding sequence and their flanking intronic sequences of AVPR2 gene, were not observed in both patients, while those fragments were all detected in the control subjects. Several different fragments around the AVPR2 locus were amplified step by step. It was revealed that a genomic fragment of 5,995-bp, which contained the entire AVPR2 gene and the last exon (exon 22) of the C1 gene, was deleted and a 3-bp (GAG) was inserted. Examination of the other family members showed that the mothers and the grandmother were carriers for this deletion. Conclusion Our findings suggest that the two patients in a Chinese family suffering from congenital NDI had a 5,995-bp deletion and 3-bp (GAG) insertion at Xq28. The deletion contained the entire AVPR2 gene and exon 22 of the C1 gene.</p

Research on Resin Used for Impregnating Polyimide Fiber Paper-Based Composite Materials

In this paper, a resin with high adhesion, easy curing, good flexibility, and high temperature resistance was prepared from polyimide fiber paper. First, in order to improve the toughness and curability of impregnating resin, epoxy resin was modified by addition of vinyl silicone resin. Subsequently, ternary resin with high temperature stability was obtained by polyimide resin addition. Among the investigated conditions, the optimal additive amount of vinyl silicone resin and polyimide resin was 30% and 5%, respectively. The prepared ternary resin has better toughness, crosslinking degree, high temperature stability (5% mass loss at 339.2 °C) and no obvious glass transition at high temperature. Finally, the polyimide fiber paper-based composite material was impregnated with modified epoxy resin and ternary resin, respectively. The results shows that the paper-based composite material impregnated with modified epoxy resin has a better fiber bonding degree, a smooth surface, and contact angle could reach up to 148.71°. Meanwhile, the paper-based composite material impregnated with ternary resin has good high temperature resistance, and the tensile index of the paper-based composite material could reach up to 35.1 N·m/g at 200 °C

Direct synthesis of gasoline and diesel range branched alkanes with acetone from lignocellulose

For the first time, gasoline and diesel range C-6-C-15 branched alkanes were directly synthesized in a high carbon yield (similar to 80%) by the self-condensation of acetone and subsequent hydrode-oxygenation over a dual-bed catalyst system

Direct Synthesis of Renewable Dodecanol and Dodecane with Methyl Isobutyl Ketone over Dual-Bed Catalyst Systems

For the first time, we demonstrated two integrated processes for the direct synthesis of dodecanol or 2,4,8-trimethylnonane (a jet fuel range C-12-branched alkane) using methyl isobutyl ketone (MIBK) that can be derived from lignocellulose. The reactions were carried out in dual-bed continuous flow reactors. In the first bed, MIBK was selectively converted to a mixture of C-12 alcohol and ketone. Over the Pd-modified magnesium-aluminium hydrotalcite (Pd-MgAl-HT) catalyst, a high total carbon yield (73.0%) of C-12 oxygenates can be achieved under mild conditions. In the second bed, the C-12 oxygenates generated in the first bed were hydrogenated to dodecanol over a Ru/C catalyst or hydrodeoxygenated to 2,4,8-trimethylnonane over a Cu/SiO2 catalyst. The as-obtained dodecanol can be used as feedstock in the production of sodium dodecylsulfate (SDS) and sodium dodecyl benzene sulfonate (SDBS), which are widely used as surfactants or detergents. The as-obtained 2,4,8-trimethylnonane can be blended into conventional jet fuel without hydroisomerization

Dual-Bed Catalyst System for the Direct Synthesis of High Density Aviation Fuel with Cyclopentanone from Lignocellulose

In this article, we demonstrated an integrated process for the direct production of tri(cyclopentane) with cyclopentanone which can be obtained from lignocellulose. The reaction was carried out in a dual-bed continuous flow reactor. In the first bed, cyclopentanone was selectively converted to 2,5-dicyclopentylcyclopentanol over the Pd-MgAl-HT (hydrotalcite) catalyst. Under solvent-free and mild conditions (443 K, 0.1 MPa H-2), high carbon yield (81.2%) of 2,5-dicyclopentylcyclopentanol was achieved. Subsequently, the 2,5-dicyclopentylcyclopentanol was further hydrodeoxygenated to tri(cyclopentane) in the second bed. Among the investigated catalysts, the Ni-H beta-DP prepared by deposition-precipitation (DP) method exhibited the highest activity for the hydrodeoxygenation step. By using Pd-MgAl-HT as the first bed catalyst and Ni-HbDP as the second bed catalyst, tri(cyclopentane) was directly produced at high carbon yield (80.0%) with cyclopentanone as feedstock. This polycycloalkane has high density (0.91 kg/L) and can be used as additive to improve the density and volumetric heating value of bio-jet fuel. (C) 2016 American Institute of Chemical Engineer

Efficient H-2 production via membrane-assisted ethanol steam reforming over Ir/CeO2 catalyst

Ethanol steam reforming in membrane reactors is a promising route for decentralized H-2 production from biomass because H-2 yield can be greatly enhanced due to the equilibrium shift triggered by instantaneous H-2 extraction. Here a highly active Ir/CeO2 catalyst has been combined with ca. 4 mu m thin Pd membranes employing a 6:1 steam/ethanol feed between 673 K and 873 K at reforming pressures up to 1.8 MPa. The H-2 yield reached 94.5% at 873 K and 1300 kPa due to the separation of 91.8% H-2 whereas H-2 yield was limited to 28.9% without membrane. At lower temperatures and pressures sweep gas was needed at the membranes' permeate side for efficient H-2 generation since the H-2 partial pressure remains equilibrium-limited on the reaction side. Furthermore, the H-2 yield improved from 63.0% to 84.7% at 773 K, 1500 kPa and sweep-to-feed flow ratio 0.5 when the distance between membrane and reactor wall was shortened by ca. 30%. Thus, external H-2 diffusion towards the membrane has a large impact on membrane reactor performance pointing towards microstructured membrane reactors as optimum devices for sustainable H-2 production from biomass. (C) 2019 Hydrogen Energy Publications LLC. Published by Elsevier Ltd. All rights reserved