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CYP27A1 is the disease-causing gene of cerebrotendinous xanthomatosis (CTX). As a treatable lipid storage disease, early treatment can improve the prognosis. However, CTX patients reported in the literature are mostly adult patients; the phenotype spectrum of CTX in the infantile population remains elusive. We aimed to investigate the phenotype spectrum of infants who carried pathogenic or likely pathogenic variants in the CYP27A1 gene and were suspected of having CTX. From June 2014 to May 2020, infants with pathogenic or likely pathogenic variants in CYP27A1 gene were enrolled, who underwent next-generation sequencing or Sanger sequencing in Children's Hospital of Fudan University. Patient characteristics, clinical treatments and outcomes were extracted from electronic medical records. A total of 17 patients with an average onset age of 8 (1–42) days were found. The average diagnosis age was ten months. Cholestasis was the dominant symptom of these infants. Thirteen variants were detected, of which c.379C > T was a hotspot variant (26.5% alleles, 9/34). Cholestatic CTX is usually underestimated, but it could be severe or even fatal in infancy. For outcomes, 5 suffered from liver failure (36%, 5/14), 1 still showed cholestasis (7%, 1/14), 7 were asymptomatic (50%, 7/14), and 1 presented seizure and developmental delay in later childhood (7%, 1/14). Based on this infantile cohort, we concluded that it is necessary to consider the possibility of CTX caused by CYP27A1 gene variants for infants with cholestasis. • The current largest infantile cohort with CTX (17 Chinese Han infants). • c.379C > T is a hotspot mutation in Chinese Han infants. • Cholestasis is a dominating symptom in infantile CTX. • Cholestatic CTX is usually underestimated and may be severe or fatal in infancy. [ABSTRACT FROM AUTHOR]

Abstract: A simple approach is reported for utilizing phosphomolybdic acid, H3PMo12O40, (HPMo) to enhance the electrocatalytic activity and carbon monoxide (CO) tolerance of platinum electrocatalysts supported on multi-walled carbon nanotubes (MWCNTs) in acidic medium. Pt/MWCNTs catalyst is prepared by the ethylene glycol reduction method, and then physically mixed with HPMo for electrochemical characterizations in terms of alcohol and CO electro-oxidation using cyclic voltammetry (CV), chronoamperometry and electrochemical impendence spectra (EIS). The results show that HPMo can efficiently enhance the electrocatalytic activity and CO-tolerance of Pt/MWCNTs catalyst. The effect of HPMo wt.% on the electrocatalytic activity towards methanol electro-oxidation of Pt/MWCNTs is also investigated by CV. The best results appear at the HPMo wt.%=30%. We further investigated the reason of Pt/MWCNTs+HPMo composite catalyst with good stability. [Copyright &y& Elsevier]

Abstract: Acetone in the human breath is a crucial biomarker for the clinical diagnosis of diabetes in a noninvasive manner. Traditional methods of breath analysis have some major technical problems and limitations. Herein, C-doped WO3 materials are synthesized via a facile cotton fiber-templating route following by calcination. The phase and morphology of the resulting material were characterized by X-ray diffraction (XRD), X-ray photoelectron spectroscopy (XPS), Raman spectra and high resolution transmission electron microscopies (HRTEM). The as-fabricated sensors based on C-doped WO3 materials show fast response and recovery toward acetone gas down to 0.2ppm with a well-defined relationship between the concentration and detection response at an operating temperature of 300°C. Upon exposure to methanol, ethanol and NH3, only slight responses were observed at the same temperature, indicating an excellent selectivity. Furthermore, healthy persons (<0.9ppm) and diabetic patients (>1.8ppm) can be distinguished by an obvious gap in sensor response even at 95% relative humidity. The results suggest that the synthesized C-doped WO3 could not only be used as an effective acetone detecting material but offer a cost-effective alternative to more bulky systems for noninvasive diagnosis of diabetes. [Copyright &y& Elsevier]

Abstract: La0.85Sr0.15Ga0.8Mg0.2O3−δ (LSGM1520) powder is synthesized by a carbonate co-precipitation coupling with azeotropic-distillation process. The composition of the as-prepared precipitate is determined by X-ray diffraction (XRD), elemental analysis (EA), thermogravimetric and differential scanning calorimeter (TG-DSC) and inductively coupled plasma atomic emission spectroscopy (ICP-AES). The post-distilled precursor is submitted to various thermal treatments and characterized by XRD and transmission electron microscopy (TEM). The results show that the components of the powder calcined at 1000°C contain a main perovskite phase and small amounts of secondary phases (namely LaSrGaO4 and LaSrGa3O7). TEM observation reveals that the powder has a narrow grain size distribution, which turns out to be suitable for sintering (>97% relative density for a pellet sintered at 1400°C during 4h). The conductivity of sintered pellets is measured and the highest conductivity at 800°C of LSGM1520 is 0.186Scm−1, which is nearly three times as high as that of La0.8Sr0.2Ga0.8Mg0.2O3−δ (0.0644Scm−1) prepared by the similar carbonate method. It suggests that a new route of synthesizing Sr- and Mg-doped lanthanum gallate (LSGM) with good sinterability has been developed. [Copyright &y& Elsevier]

Abstract: A series of ceria-based solid solution electrolytes, CoO and Sm2O3 codoped ceria Ce0.8Sm0.2−x Co x O2−δ (denoted as CSO for x =0 and CSC x for x =0.01–0.09), are synthesized via a carbonate co-precipitate method. The phase composition of the precursor is determined by XRD, EA and TG/DSC. The oxidation valence of Co in the samples calcined at different temperatures is probed by XPS and determined to be in +2 valence state at the temperature >1000°C. The sintering investigation demonstrates that the addition of Co promotes densification to occur at lower temperatures with a uniform grain growth. Impedance spectroscopy measurements indicate an improvement in the grain and the grain boundary conductivities for the samples with appropriate Co/Sm ratio. The optimal amount of Co additive is proved to be 7mol%. It shows that CSC0.07 exhibits higher conductivity (σ t =0.0538Scm−1 at 600°C) and lower activation energy (E a =0.567eV) compared with CSO and other CSC x . The results suggest that cobalt oxide could be used not only as an effective sintering aid but as a favorable dopant to ceria as well. [Copyright &y& Elsevier]

Abstract: Nanoscale 8 mol% yttria stabilized zirconia (YSZ) powders were prepared by polyethylene glycol (PEG-1540) assisted coprecipitation coupling with azeotropic distillation drying process. The role of PEG and azeotropic-distillation on the morphology and particle size of YSZ was studied. Thermogravimetry and X-ray diffraction results showed that azeotropic-distillation could reduce the formation temperature of YSZ phase. X-ray patterns of the YSZ powders revealed that the crystallite size of the powders increases with increasing calcination temperature, which is consistent with transmission electron microscopy observations. The sintering behavior and the ionic conductivity of the pellets prepared from YSZ powders calcined at 800°C were also studied. At sintering temperatures ≥1400°C, more than 99% of the relative density was obtained. The alternating-current impedance spectroscopy results showed that the YSZ pellet sintered at 1450°C has ionic conductivity of 0.0726Scm−1 at 800°C in air. The present work results have indicated that the PEG assisted coprecipitation combined with azeotropic-distillation drying process is an alternative method to synthesize yttria stabilized zirconia powders with a high sinterability and a good ionic conductivity. [Copyright &y& Elsevier]

Abstract: A series of Ce0.8Gd0.2−x Nd x O2−δ (x =0–0.20) compositions have been synthesized by citric acid–nitrate combustion method. XRD measurements indicate that all the obtained materials crystallized in cubic fluorite-type structure. Lattice parameters were calculated by Rietveld method and the parameter a values in Ce0.8Gd0.2−x Nd x O2−δ system obey Vegard''s law, a (Å)=5.4224+0.1208x. The obtained powders have good sinterability and the relative density could reach above 95% after being sintered at 1400°C. Impedance spectroscopy measurements indicated that the conductivity of Ce0.8Gd0.2−x Nd x O2−δ first increased and then decreased with Nd dopant content x. The maximum conductivity, σ 700°C =6.26×10−2 S/cm, was found in Ce0.8Gd0.12Nd0.08O1.9 when sintered at 1300°C. The corresponding activation energies of conduction had a minimum value E a =0.676eV. The results tested experimentally the validity of the effective atomic number concept of recent density functional theory, which had suggested that co-dopant with effective atomic number between 61 (Pm) and 62 (Sm) was the ideal dopant exhibiting high ionic conductivity and low activation energy. [Copyright &y& Elsevier]

Abstract: Polybrominated diphenyl ethers (PBDEs) are of great environmental concern due to bioaccumulation in different food chains. Trophodynamics of PBDEs in freshwater food chain is an important criterion for assessing their ecological risk. In the study, PBDEs were analyzed in sixteen aquatic species collected from Baiyangdian Lake, North China. The concentrations of nine PBDE congeners (BDE-28, -47, -66, -99, -100, -85, -153, -154, and -183) in aquatic organisms ranged from 3.4 to 160.2ng/g lipid weight. BDE-47 was the predominant PBDE congener in most samples except for river snails and swan mussels. BDE-209 was detected in 50% of biota samples, which indicated the bioavailability of BDE209. Correlation between lipid-normalized concentrations of PBDEs and trophic levels determined by stable isotope nitrogen technologies confirmed that PBDEs were biomagnified in the freshwater food chain. The trophic magnification factors (TMFs) ranged from 1.3 to 2.1 for PBDE congeners, greater than one, indicating the biomagnification potential for the PBDE congeners in the freshwater food chain. The relationship between TMFs and Log K ow (octanol–water partition coefficient) indicated that the phenomenon of trophic magnification for lowly brominated congeners was obvious in the freshwater food chain. [Copyright &y& Elsevier]