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X-linked hyper-immunoglobulin M (X-HIGM) syndrome and autosomal recessive hyper-immunoglobulin E syndrome (HIES) are rare inborn errors of immunity characterized by recurrent infections due to immune system impairment. In this study, we identified a novel hemizygous CD40 ligand (CD40L) mutation and compound heterozygous dedicator of cytokinesis-8 (DOCK8) mutations in two Han Chinese families with X-HIGM and HIES, respectively. We aimed to investigate the association between their genotypes and phenotypes. Genomic DNA was extracted from peripheral blood samples obtained from the families. Whole exome sequencing and Sanger sequencing were performed to identify and verify pathogenic variants in the two families. Clinical analyses of the probands were also performed. A novel hemizygous mutation of CD40L in exon 2 (c.257delA) was identified in the first proband, resulting in the substitution of glycine with glutamic acid at codon 86 of the protein. This leads to premature termination of translation at downstream codon 9 (p.E86Gfs*9). Sanger sequencing confirmed that the variant was inherited from the mother. The second proband carried two novel compound heterozygous mutations in DOCK8: one at exon 14 (c.1546C > G) inherited from the father, and the other at intron 41 (c.5355 + 6C > T; splicing) inherited from the mother. This study enhances our understanding of the pathogenetic mutation spectrum of CD40L and DOCK8 genes, facilitating the prenatal diagnosis of X-HIGM and HIES and enabling timely treatment of patients. [ABSTRACT FROM AUTHOR]

In this paper, a novel colorimetric biosensor for Hg is presented based on Hg stimulated peroxidase-like activity of hollow porous gold nanoparticles (HPGNPs). Under mild conditions, HPGNPs show high catalytic activity toward the oxidation of 3, 3, 5, 5-tetramethylbenzidine (TMB) using H2O2 as an oxidant. The peroxidase-like activity of HPGNPs is 'switched-on' selectively in the presence of Hg, which permitted a novel and facile colorimetric sensor for Hg. This method exhibits many merits like high selectivity and sensitivity. As low as 18.5nM Hg could be determined at a linear range from M to M. This method is successfully applied for the determination of total mercury content in tap water and Yellow River which indicates that the method has a great potential for the routine determination of Hg in environmental samples. In the present paper, hollow porous gold nanoparticles (HPGNPs) are found to possess intrinsic peroxidase-like activity, which catalyzes oxidation of the peroxidase substrate TMB in the presence of H2O2. In this contribution, different from the traditional feature of the Hg2+ to enzymes, a new kind of mercury-stimulated peroxidase mimetic activity of HPGNPs, which is highly selective among Hg2+, is presented. [ABSTRACT FROM AUTHOR]

Hollow porous gold nanoparticles (HPGNPs) were synthesized via a one-step solution phase method at ambient temperature. The particle size, ranging from 80 nm to 350 nm, was easily controlled by changing the concentration of HAuCl 4 . The morphology and the structure of the as-prepared HPGNPs were investigated by SEM, TEM, HRTEM and XPS. Langmuir isotherm analysis yielded values of 8973 m 2 /g for the outer surface area and 58724 m 2 /g for the inner surface area for the 80 nm HPGNPs. Due to a special hollow porous nanostructure, the HPGNPs exhibited superior catalytic activity and stability for the reduction of 4-nitrophenol (4-NP). No significant inactivation of the 80 nm HPGNPs was observed, even after recycling for six cycles or storing for more than 1 month. Due to these excellent properties, it is expected that HPGNPs can be used in such applications as water pollutant removal and environmental remediation. [ABSTRACT FROM AUTHOR]

Objective: To investigate whether IL-12B rs3212227 was associated with susceptibility to PE (preeclampsia) in Chinese Han women.Methods: We enrolled 1000 PE patients and 1287 controls and performed rs3212227 genotyping by PCR–restriction fragment length polymorphism.Results: No significant differences in genetic distributions of IL-12B rs3212227 were observed between cases and controls (χ2= 4.62,p= 0.10 by genotype; χ2= 0.03,p= 0.87 by allele). There were also no significant differences in genotypic and allelic frequencies between mild/severe or early/late-onset PE and control subgroups.Conclusion: Our data suggested that IL-12B rs3212227 might not be a critical risk factor for PE in Chinese Han women. [ABSTRACT FROM PUBLISHER]

Preeclampsia (PE) is a systemic inflammatory response syndrome involving varieties of cytokines, and previous studies have shown that IL-33 and its receptor IL-1RL1 play pivotal roles in the development of it. As a polygenetic hereditary disease, it is necessary to study the gene analysis for PE. Therefore, the present study was to determine whether IL-33 rs3939286 and IL-1RL1 rs13015714 associated with susceptibility to PE in Chinese Han women. Methods: 1,031 PE patients and 1,298 controls were enrolled and the genotyping for rs3939286 in IL-33 and rs13015714 in IL-1RL1 was performed by TaqMan allelic discrimination real-time PCR. Hardy-Weinberg equilibrium (HWE) was examined to ensure the group representativeness and Pearson's chi-square test was used to compare the differences in genetic distributions between the two groups. Results: No significant differences in genotypic and allelic frequencies of the two polymorphisms loci were observed between cases and controls. There were also no significant differences in genetic distributions between mild/ severe and early/late-onset PE and control groups. Conclusion: Although our data suggested that the polymorphisms of IL-33 rs3939286 and IL-1RL1 rs13015714 might not be critical risk factors for PE in Chinese Han women, the results need to be validated in different nations. [ABSTRACT FROM AUTHOR]

Previous studies have suggested an important role for IL-17, mainly secreted by Th17 cells, in the development of systemic inflammation in preeclampsia (PE). This study therefore investigated the association between genetic variants in IL-17A, IL-17F, and IL-17RA and susceptibility to PE in Chinese Han women. We recruited 1,031 PE patients and 1,298 controls of later pregnant women, and used TaqMan allelic discrimination real-time PCR to genotype the polymorphisms of IL17A rs2275913, IL-17F rs763780, and IL-17RA rs4819554. No significant differences in genotypic or allelic frequencies were found at all three polymorphic sites between PE patients and controls (rs2275913: genotype χ2 = 0.218, p = 0.897 and allele χ2 = 0.157, p = 0.692, OR = 1.024, 95%CI 0.911–1.152; rs763780: genotype χ2 = 1.948, p = 0.377 and allele χ2 = 1.242, p = 0.265, OR = 0.897, 95%CI 0.741–1.086; rs4819554: genotype χ2 = 0.633, p = 0.729 and allele χ2 = 0.115, p = 0.735, OR = 1.020, 95%CI 0.908–1.146). There were also no significant differences in genetic distributions between mild/severe PE or early/late-onset PE and control subgroups. Our data indicate that the genetic variants of rs2275913 in IL-17A, rs763780 in IL-17F, and rs4819554 in IL-17RA may not play a role in the pathogenesis of PE in Chinese Han women. However, these findings should be confirmed in other ethnic populations. [ABSTRACT FROM AUTHOR]

Photo-Fenton reactions and the related functional nanomaterials have been widely studied for applications in wastewater treatment industry. Herein, visible-light-responsive Fe2O3 nanoparticle-decorated BiVO4 nanoplates were designed and successfully prepared through a one-pot hydrothermal route. The as-prepared Fe2O3/BiVO4 nanocomposites exhibit excellent photo-Fenton catalytic activity toward the discoloration of methylene blue (MB) and Rhodamine B (RhB) dye molecules in the presence of H2O2. The experimental results indicate that nearly 100% of MB (100 mL, 10 mg L−1) and RhB (100 mL, 5 mg L−1) dye molecules are degraded in the presence of 1 g L−1 Fe2O3/BiVO4-1 (FB-1) photo-Fenton catalyst and 0.5 mL of H2O2 within 20 min. The Fe2O3/BiVO4 Fenton photocatalyst also demonstrates high reusability under visible light irradiation with λ ≥ 420 nm. The photoinduced electrons on the conduction band of BiVO4 nanoplates can move toward the surface of Fe2O3/BiVO4 to accelerate the reduction of Fe3+; then, the as-formed Fe2+ ions on the surface of the catalyst greatly enhance the decomposition of H2O2 to form reactive ·OH species for the use in photodegradation of MB and RhB dye molecules. The synergetic effect of Fe2O3 and BiVO4 reported in this work might provide more opportunity to fabricate other novel semiconductor-based Fenton nanocomposites for contamination treatments in wastewater. [ABSTRACT FROM AUTHOR]

A simple colorimetric sensing assay was constructed for quantitative detection of triazophos via aggregation of citrate capped silver nanoparticles (Cit-AgNPs) with an On-Off type. In the presence of triazophos, the Cit-AgNPs was aggregated, resulting in the obvious color change from yellow to prunosus via hydrogen bonding, π-π interactions and substitution. The theoretical investigations between the triazophos and Cit-AgNPs were also validated by density functional theory (DFT) approach. Meanwhile, the calibration curve was found to be linear over the range of 0.1–280 μM and this proposed colorimetric sensing was demonstrated an excellent sensitivity with a detection limit of 5 nM. The recoveries obtained from complex sample matrices were in the range 82%–100.8%. Significantly, the colorimetric probe has been successfully applied for visual detection of triazophos, which validated the excellent potential for real-time and on-site application and possessed considerable advantages of simplicity, rapid detection, portability, cost efficiency and visualization. It can be applied into determining triazophos in environmental samples. [ABSTRACT FROM AUTHOR]

Unbalanced inflammatory reactions and oxidative stress are inseparably interconnected, and both may play crucial roles in the pathophysiological mechanisms of preeclampsia (PE). In the published previous studies, we have genotyped for SNPs that related to inflammation (rs2227485, rs153109, rs17855750, rs2027432, rs2275913, rs763780, rs4819554, and rs13015714) and oxidative stress (rs1695, rs4680, rs1800566, rs4807542, rs713041, rs7579, rs230813, rs1004467, rs3824755, and rs9932581) to investigate whether these polymorphisms were associated with susceptibility to PE in a Chinese Han population. In this present study, we collected these data of experimental and clinical from above studies for haplotype analysis of inflammation-related SNPs in 631 PE patients and 720 normal pregnancy and oxidative stress-related SNPs in 342 PE patients and 457 normal pregnancies for susceptibility to PE. The data of genotype distribution and allele frequency comparisons after correction for multiple comparisons (P/8 or P/10) showed 2 among the 8 candidate inflammation-related SNPs have significant differences (rs2027432 genotype χ2 = 407.377, p < 0.001, p < 0.00625). Moreover, the minor alleles of rs2027432 T (minor allele χ2 = 450.923, p < 0.001, p < 0.00625; OR = 21.439, 95%CI = 15.181-30.278) and rs4819554 G (minor allele χ2 = 163.465, p < 0.001, p < 0.00625; OR = 5.814, 95%CI = 4.380-7.719) were confirmed as risk allele of PE, respectively. Our analysis revealed rs2027432 (TT) of NLRP3 and rs4819554 (GG) of IL-17RA are risk factors for PE. However, no significant difference was found at the oxidative stress-related SNPs. In the candidate loci for oxidative stress, we also identified 3 SNP matches (rs4807542 and rs713041, rs230813 and rs75799, rs1004467 and rs3824755) that had high linkage disequilibrium (LD) with each other and were selected as a block (r2 = 0.98, r2 = 0.97, r2 = 0.97, r2 > 0.9), and the GT and GC haplotypes of rs4807542 and rs713041 in GPX4 showed significant differences between the PE and control groups (χ2 = 5.143, p = 0.0233, p < 0.05; χ2 = 6.373, p = 0.0116, p < 0.05). So, we inferred that polymorphisms of NLRP3 rs2027432 and IL-17RA rs4819554, which are related to inflammation, and the rs713041 variant of GPX4, which is related to oxidative stress, were associated with susceptibility to PE. The GT and GC haplotypes of rs4807542 and rs713041 in GPX4 may increase the risk of PE in the Chinese Han population. [ABSTRACT FROM AUTHOR]

Objective: Previous studies have indicated that the nucleotide-binding domain, leucine-rich repeat containing protein 3 (NLRP3) inflammasome is activated by monosodium urate in the trophoblast of preeclampsia (PE) patients, leading to augmented placental IL-1β levels. Thus, the purpose of our study was to investigate the association between NLRP3 polymorphisms, rs10754558 and rs2027432, and PE in Chinese Han population.Methods: The NLRP3 polymorphisms, rs10754558 and rs2027432, were genotyped by real-time PCR in 1024 PE patients and 1194 control subjects. A χ2 test was used to compare the genetic distribution between the two groups, and an analysis of variance was used to conduct the genotype-phenotype analysis.Results: We demonstrated a significant difference in genotypic frequency of the rs10754558 (χ2 = 9.97, p = .007) in NLRP3 between PE patients and controls. Additionally, there was a significant difference between cases and controls in the dominant model of G allele (χ2 = 7.70, p = .006, odds ratio =0.77, 95%confidence interval 0.64-0.93). What's more, the genotypes distributions of rs10754558 were found to be associated with both the severe and late onset PE. (χ2 = 8.53 p = .01, χ2 = 9.24, p = .01.) However, no significant statistic differences were found in the genotypic distributions and allelic frequencies for rs2027432 between two groups (for genotypic distribution, χ2 = 0.17, p = .92; for allelic frequency, χ2 = 2.26, p = .13, odds ratio =0.90, 95% confidence interval 0.79-1.03).Conclusions: Our results reveal that NLRP3 may be involved in the development of PE in a Chinese Han population. However, further validation of the associations of other NLRP3 SNPs with PE in other populations is required. [ABSTRACT FROM AUTHOR]

Objective: We investigated whether the CXCL12-801G/A polymorphism was associated with preeclampsia (PE) susceptibility in a Chinese Han population.Methods: We examined 912 PE women and 1025 controls for the CXCL12-801G/A polymorphism by polymerase chain reaction (PCR) and correlations with clinical characteristics were examined.Results: No significant differences in genotypic and allelic frequencies of CXCL12-G801A were found between cases and controls (genotype:χ2= 2.095,p= 0.351; allele:χ2= 1.713,p= 0.191). There were also no significant differences between early/late-onset or mild/severe PE and control groups.Conclusion: The results indicate that 801G/A inCXCL12may not play a major role in pathogenesis of PE in a Chinese Han population. [ABSTRACT FROM PUBLISHER]

Interleukin (IL)-17 is a proinflammatory cytokine mainly secreted by activated T helper 17 cells and involved in inflammatory immune responses. This study aimed to investigate the association between IL-17 variants as well as serum IL-17 levels with gout in male Chinese Han individuals. A total of 1,101 male gout patients and 1,239 ethic-matched controls were enrolled. Genetic distributions of three variants (rs2275913 in IL-17A, rs763780 in IL-17F, and rs4819554 in IL-17RA) were detected by real-time polymerase chain reaction using the Taqman probe method. The plasma concentrations of IL-17A and IL-17F were measured in 228 gout patients and 198 controls that came from above samples by an enzyme-linked immunosorbent assay. No significant differences were observed in the genetic distribution of these polymorphisms between cases and controls (rs2275913: χ2 = 0.15, p = 0.928 by genotype, χ2 = 0.14, p = 0.711 by allele; rs763780: χ2 = 2.24, p = 0.326 by genotype, χ2 = 0.26, p = 0.609 by allele; rs4819554: χ2 = 1.79, p = 0.409 by genotype, χ2 = 1.46, p = 0.227 by allele). Levels of serum IL-17A and IL-17F were significantly decreased in gout patients (both p<0.001). However, no difference was observed in acute gout patients between different genotypic carriers of rs2275913 and rs763780 regarding serum IL-17A and IL-17F levels (p>0.05). Although the genetic variants in IL-17 we studied in this research do not appear to be involved in the development of gout in male Chinese Han individuals, the IL-17 cytokine family may participate in gouty inflammation in an undefined way, which requires further validation. [ABSTRACT FROM AUTHOR]