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Abstract Purpose To characterize the phenotype and genotype of a Chinese family with autosomal‐dominant retinitis pigmentosa (RP) accompanied by iris coloboma. Methods The proband, a 34‐year‐old male, was examined with his family by using fundus photography, optical coherence tomography (OCT), autofluorescence, and full‐field electroretinography (ffERG). Genetic analyses were conducted through whole‐exome sequencing (WES) to screen for variations. Results Three members of this Chinese family were shown to be bilateral iris coloboma. The male proband and his mother exhibited typical RP feature. The proband's late grandfather had been documented manifestation of iris coloboma. The mode of inheritance was confirmed to be autosomal dominance. Through linkage analysis and WES, a heterozygous variation in the miR‐204 gene (n.37C>T), a noncoding RNA gene, was identified in these three members. Conclusions In this third independent and the first Asian family, the existence of a miR‐204 variant associated with RP accompanied by iris coloboma was confirmed. Our findings reinforce the significance of miR‐204 as an important factor influencing visual function in the retina. When phenotypes like RP accompanied by iris coloboma in an autosomal‐dominant pattern, including in Chinese patients, miR‐204 aberrations should be considered.

ZrO2/Al2O3porous ceramics were prepared by gel-foaming technique. The rheological property of slurry, the effect of solid content on the microstructure and mechanical property of the porous green bodies and the relationship between the MgO sintering additive content with the compressive strength and porosity of porous ceramics were investigated. The results show when the dispersant content is 0.4%(mass fraction), ball milling time is 4 h and the pH value is 4, the low viscosity is conductive to gelcasting. The porosity of green body reduces with the increase of solid content. The excessive solid content makes the slurry hard to flow, and the big pores and cracks form during gelcasting process, then the compressive strength of green body decreases. The mechanical properties of porous ceramics are improved with the phase transformation and micro-crack toughening induced by the ZrO2. The densification of pore supports increases, the porosity reduces and compressive strength increases with the increase of sintering additive content. The highest compressive strength is 30 MPa. The porous ceramics with appropriate porosity and high compressive strength can be prepared by introducing suitable contents of ZrO2 and sintering additive.

Objective To investigate the expression of HIF-1 α, PAR-1 and VEGF in breast cancer tissues from patients with type 2 diabetes and the effect of hypoxia microenvironment on the invasion and proliferation of human breast cancer cell line (MCF-7). Methods Thirty-seven specimens of breast cancer from patients with complicated with type 2 diabetes mellitus were examined by surgical resection. The expression of HIF-1α, PAR-1, VEGF and microvessel density (MVD) in breast cancer and paracancerous tissues were examined by immunohistochemistry. MCF-7 cells were divided into control group (5.6 mmol/L glucose), high glucose group (30 mmol/L glucose), hypoxia group (1% O2 5% CO2 94% N2) and high glucose plus hypoxia group. The cell morphology was observed by microscoped, the cell proliferation was detected by CCK-8 method, the invasive ability of cells was detected by Transwell chamber test, and the expression of HIF-1α, PAR-1, VEGF mRNA and protein were detected by RT-qPCR and Western blot. Results The expression of HIF-1α, PAR-1, VEGF and MVD count in breast cancer tissues were higher than those in periaracancerous tissues(P＜0.05); the number of cells passing through the basement membrane and the cell survival rate of MCF-7 in the high glucose hypoxia group were significantly higher than those in the control group (P＜0.01); and the expressions of HIF-1α, PAR-1, VEGF mRNA and protein in the hypoxia group and hypoxia high glucose group were significantly higher than those in the control group(P＜0.05). Conclusions Hypoxia and high glucose can promote the proliferation and invasion and the expression of HIF-1α, PAR-1, VEGF of MCF-7 cells, which is a potential target for clinical detection and treatment of breast cancer of patients with type 2 diabetes.

Children with autism spectrum disorder (ASD) have difficulties with emotion recognition and a number of interventions have been designed to address this problem. The purpose of this study was to examine the effects of video-based intervention (The Transporters) on emotion recognition in four children (aged 4-8 years old) with ASD who have limited speech in China. This study employed a multiple baseline across participants. The results indicated that the video-based intervention effectively improved emotion recognition in all children with limited speech. However, there was a limited effect in the generalization phase after 7 and 15 days completing the intervention phase. Results of this study have important implications for early intervention educators working with children with ASD.

【Abstract】 Objective: To explore the changes of Treg-Th17 balance influenced by corticosterone, major ef-fect hormone of hypothalamic-pituitary-adrenal (HPA) axis under running stress. Methods: A total of 25 corticotropin-releasing hor-mone (CRH) wildtype (CRH+/+) and knockout (CRH-/-) mice were adopt and divided into 4 groups as follows: CRH+/+ ctrl, CRH+/+ stress, CRH-/- ctrl and CRH-/- stress. All mice in stress groups were under 2 h running. After 1 h, blood plasma in all groups was collected and the ex-pression of corticosterone and IL-17A was detected by ELISA. Meanwhile, unicell suspensions of peripheral lymph node and spleen in each group were prepared too and stained by PE-CD4 and FITC-CD25, then the changes of Treg (CD4+CD25+) in different groups were checked by flow cytometry; all data were statistically analyzed by the software of WinMDI 2.9, SPSS 11.5, Origin 7.5 and Matlab 2-D and 3-D plot function. Results: The levels of corticosterone were signifi-cantly higher in stress groups than that in correspond-ing control groups (P

Abstract Zinc hydroxide fluoride (Zn(OH)F) with novel flower-like morphology has been prepared via a microwave-assisted ionic liquid route. The flower-like Zn(OH)F particle has six petals and every petal is composed of lots of acicular nano-structure. Nanoporous ZnO is obtained by thermal decomposition of as-prepared Zn(OH)F in air, and the flower-like morphology is well retained. In the process of synthesis, ionic liquid 1-Butyl-3-methylimidazolium tetrafluoroborate is used as both the reactant and the template.

Abstract Background Since men with chronic kidney disease (CKD) progress faster than women, an accurate assessment of CKD progression rates should be based on gender differences in age-related decline of glomerular filtration rate (GFR) in healthy individuals. Methods A Chinese sample population from a stratified, multistage, and clustered CKD screening study was classified into healthy, at-risk, and CKD groups. The gender differences in estimated GFR (eGFR) and age-related eGFR decline were calculated for each group after controlling for blood pressure, fasting glucose levels, serum lipids levels, education level, and smoking status. After referencing to the healthy group, gender-specific multivariate-adjusted rates of decline in eGFR and differences in the rates of decline were calculated for both CKD and at-risk groups. Results The healthy, at-risk, and CKD groups consisted of 4569, 7434, and 1573 people, respectively. In all the 3 groups, the multivariate-adjusted eGFRs in men were lower than the corresponding eGFRs in women. In addition, in the healthy and at-risk groups, the rates of decline in eGFR in men were lower than the corresponding rates of decline in women (healthy group: 0.51 mL·min-1·1.73 m-2·yr-1 vs. 0.74 mL·min-1·1.73 m-2·yr-1 and at-risk group: 0.60 mL·min-1·1.73 m-2·yr-1 vs. 0.73 mL·min-1·1.73 m-2·yr-1). However, in the CKD group, the rates of decline in eGFR in men were similar to those in women (0.96 mL·min-1·1.73 m-2·yr-1 vs. 0.91 mL·min-1·1.73 m-2·yr-1). However, after referencing to the healthy group, the rates of decline in eGFR in men in the at-risk and CKD groups were greater faster than the corresponding rates in women (at-risk group: 0.10 mL·min-1·1.73 m-2·yr-1 vs. -0.03 mL·min-1·1.73 m-2·yr-1 and CKD group: 0.44 mL·min-1·1.73 m-2·yr-1 vs. 0.15 mL·min-1·1.73 m-2·yr-1). Conclusion To accurately assess gender differences in CKD progression rates, gender differences in age-related decline in GFR should be considered.

Abstract Background The deficiency of β1,3 galactose in hinge region of IgA1 molecule played a pivotal role in pathogenesis of IgA nephropathy (IgAN). Cosmc, encoded by C1GALT1C1 gene, was indispensable to β1,3 galactosylation of IgA1. We designed a serial study to investigate the relationship between the mutations of C1GALT1C1 gene and the genetic susceptibility to IgAN. Methods Nine hundred and thirty-eight subjects, including 661 patients with IgAN and 277 healthy controls were enrolled in the study. Firstly, single nucleotide polymorphisms (SNPs) in the promoter region of C1GALT1C1 gene were screened. Then the c.-347-190G>A was analyzed by PCR-restriction fragment length polymorphism (PCR-RFLP) for further case-control association analysis. Secondly the somatic mutations of DNAs from peripheral blood B lymphocytes were detected in 15 patients and 7 normal controls. Results No significant association was observed between the different alleles or genotypes of c.-347-190G>A and IgAN. The patients with different genotypes of C1GALT1C1 gene did not significantly associate with clinical manifestations, including hematuria, proteinuria, and serum creatinine of patients with IgAN. There was no somatic mutation detected in total 202 clones of 22 individuals. Conclusion The c.-347-190G>A polymorphism and the somatic mutation of encoding region of C1GALT1C1 gene were not significantly related to the genetic susceptibility to IgAN in Northern Chinese population.

Raman spectroscopy can characterize the rich molecular vibration information of soybean milk powder samples, but difficulties arise in its direct use for sample classification and identification. Therefore, it is urgent to develop an intelligent identification technology based on Raman spectroscopy. For brand identification of soybean milk powder, this work investigates and discusses a variety of spectral processing technologies including wavelet denoising, normalization, principal component analysis, and the results show that appropriate spectral processing can improve the recognition accuracy of the random forest algorithm. Under the optimal conditions (db2 wavelet, normalization, principal component analysis, 30 decision trees), the best recognition effect of soybean milk brand identification can be achieved. The Raman spectral signal acquisition time of each sample is 40 s, and the spectra pretreatment and identification operation time only takes a few minutes. The analytical approach established in this paper has the advantages of convenient and fast Raman spectra acquisition, fast and accurate model identification., Author(s): Zheng-Yong Zhang [sup.1] , Xiao-Jing Shi [sup.1] , Ya-Ju Zhao [sup.2] , Yin-Sheng Zhang [sup.2] , Hai-Yan Wang [sup.2] Author Affiliations: (1) grid.440844.8, 0000 0000 8848 7239, School of [...]