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Compound heterozygous mutations in CYP1B1 gene leads to severe primary congenital glaucoma phenotype

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International Journal of Ophthalmology(English edition) 2019年第6期12卷 909-914页

作者： Na Song Lin Leng xue-jiao yang Yu-Qing Zhang Chun Tang Wen-Shi Chen Wei Zhu Xian yang Department of Ophthalmology the Affiliated Hospital of Qingdao UniversityQingdao 266003Shandong ProvinceChina Department of Pharmacology School of PharmacyQingdao UniversityQingdao 266021Shandong ProvinceChina

AIM: To identify the novel mutation alleles in the CYP1B1 gene of primary congenital glaucoma(PCG) patients at Shandong Province of China, and investigate their correlation with glaucomatous ***: The DNA from the peripheral blood of 13 congenital glaucoma patients and 50 ethnically matched healthy controls from the affiliated hospital of Qingdao University were extracted. The coding region of the CYP1B1 gene was amplified by PCR and direct DNA sequencing was performed. Disease causing-variants were analyzed by comparing the sequences and the structures of wild type and mutant CYP1B1 proteins by PyMOL ***: Two missense mutations, including A330 F caused by c.988 G>T&c.989 C>T, and R390H caused by c.1169 G>A, were identified in one of the 13 PCG patients analyzed in our study. A330F mutation was observed to be novel in the Chinese Han population, which dramatically altered the protein structure of CYP1B1 gene, including the changes in the ligand-binding pocket. Furthermore, R390H mutation caused the changes in heme-protein binding site of this gene. In addition, the clinical phenotype displayed by PCG patient with these mutations was more pronounced than other PCG patients without these mutations. Multiple surgeries and combined drug treatment were not effective in reducing the elevated intraocular pressure in this ***: A novel A330F mutation is identified in the CYP1B1 gene of Chinese PCG patient. Moreover, in combination with other mutation R390H, this PCG patient shows significant difference in the CYP1B1 protein structure, which may specifically contribute to severe glaucomatous phenotype.

关键词： primary congenital glaucoma CYP1B1 gene missense mutation protein structure

Effects of chronic elevated intraocular pressure on parameters of optical coherence tomography in rhesus monkeys

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International Journal of Ophthalmology(English edition) 2019年第4期12卷 542-548页

作者： Zhi-Chao Yan xue-jiao yang Hong-Rui Chen Shui-Feng Deng Ying-Ting Zhu Ye-Hong Zhuo Department of Ophthalmology the Second Affiliated Hospital of Guangzhou Medical University State Key Laboratory of Ophthalmology Zhongshan Ophthalmic Center Sun Yat-sen University Department of Ophthalmology the Affiliated Hospital of Qingdao University

AIM: To determine the progression of parameters from optical coherence tomography(OCT) in chronic elevated intraocular pressure(IOP) ***: A chronic elevated IOP model of rhesus monkeys was induced by laser photocoagulation. Representative OCT parameters, including the average and four-quadrant retinal nerve fiber layer(RNFL) thickness, and parameters from optic nerve head(ONH) analysis were collected before and after laser treatments biweekly for up to 28 wk. The performance of each parameter for early progression detection was analyzed. The progressive trends toward elevated IOP were analyzed using a linear mixed-effects ***: There were 10 successfully maintained high IOP eyes in 7 monkeys. The follow-up time was 24±5.37 wk. With cumulative IOP elevation, the cup area, rim area and C/D area ratio were statistically significantly changed as early as 2 wk after elevated IOP induction(P<0.05). The quadrant RNFL thickness changed at 6wk after high IOP induction, and the superior and inferior RNFL thicknesses exhibited more obvious reductions than other quadrants. The average RNFL thickness was the last one to show a significant decrease at ***: The parameters of ONH are most sensitive to elevated IOP in a primate glaucomatous model. These findings suggest that we should focus on those parameters instead of RNFL thickness in patients with elevated IOP, as they might present with earlier glaucomatous changes.

关键词： optical coherence tomography rhesus monkey glaucoma high intraocular pressure retinal nerve fiber layer

Genome-Wide Analysis Regulatory Network of Photomorphogenesis Revealed the Complex Brassinosteroid Effects in

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Molecular Plant 2009年第4期2卷 755-772页

作者： Li Song Xiao-Yi Zhou Li Li Liang-jiao xue Xi yang Hong-Wei xue National Key Laboratory of Plant Molecular Genetics Institute of Plant Physiology and Ecology Shanghai Institutes for Biological Sciences Chinese Academy of Sciences 300 Fenglin Road 200032 Shanghai China

Light and brassinosteroids （BRs） have been proved to be crucial in regulating plant growth and development; however, the mechanism of how they synergistically function is still largely unknown. To explore the underlying mechanisms in photomorphogenesis, genome-wide analyses were carried out through examining the gene expressions of the dark-grown WT or BR biosynthesis-defective mutant det2 seedlings in the presence of light stimuli or exogenous Brassinolide （BL）. Results showed that BR deficiency stimulates, while BL treatment suppresses, the expressions of lightresponsive genes and photomorphogenesis, confirming the negative effects of BR in photomorphogenesis. This is consistent with the specific effects of BR on the expression of genes involved in cell wall modification, cellular metabolism and energy utilization during dark-light transition. Further analysis revealed that hormone biosynthesis and signaling-related genes, especially those of auxin, were altered under BL treatment or light stimuli, indicating that BR may modulate photomorphogenesis through synergetic regulation with other hormones. Additionally, suppressed ubiquitin-cycle pathway during light-dark transition hinted the presence of a complicated network among light, hormone, and protein degradation. The study provides the direct evidence of BR effects in photomorphogenesis and identified the genes involved in BR and light signaling pathway, which will help to elucidate the molecular mechanism of plant photomorphogenesis.

关键词： brassinosteroid light photomorphogenesis hormone interplay ubiquitin.

Personality traits and self-harm behaviors among Chinese children and adolescents: The mediating effect of psychological resilience

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World Journal of Psychiatry 2022年第3期12卷 494-504页

作者： xue-yang jiao Chuan-Zhi Xu Ying Chen Qing-Lan Peng Hai-Liang Ran Yu-San Che Die Fang Jun-WeiPeng Lin Chen Si-Fan Wang Yuan-Yuan Xiao School of Public Health Kunming Medical UniversityKunming 650500Yunnan ProvinceChina

BACKGROUND Previous studies have shown that personality traits are associated with self-harm(SH)in ***,the role of resilience in this association remains *** research aims to explore the hypothesized mediation effect of resilience in the relationship between personality traits and SH in Chinese children and *** To evaluate resilience as a mediator of the association between personality traits and *** A population-based cross-sectional survey involving 4471 children and adolescents in Yunnan province in southwestern China was carried *** data were collected by self-reporting *** and multivariate logistic regression models were employed to identify associated factors of SH.A path model was used to assess the mediation effect of resilience with respect to personality traits and SH *** Among the 4471 subjects,1795 reported SH,with a prevalence of 40.1%(95%CI:34.4%-46.0%).All dimensions of personality traits were significantly associated with SH *** significantly mediated the associations between three dimensions of personality(extroversion,neuroticism,psychoticism)and SH,accounting for 21.5%,4.53%,and 9.65%,respectively,of the total *** all dimensions of resilience,only emotional regulation played a significant mediation *** The results of the study suggest that improving emotion regulation ability might be effective in preventing personality-associated SH among Chinese children and adolescents.

关键词： Adolescents Emotion regulation Mediation Personality traits Resilience Self-harm

核酸功能化金纳米探针在活细胞荧光成像方面的应用

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中国科学：化学 2020年第5期50卷 583-593页

作者：杨雪娇徐静娟陈洪渊南京大学化学化工学院生命分析化学国家重点实验室南京210023

荧光标记的核酸功能化金纳米探针结合了纳米材料与核酸技术的优势,具有增强的稳定性、良好的生物相容性、独特的光学性质及精确的可编程性,开辟了活细胞传感的新纪元.信号放大型的核酸功能化金纳米探针在原位检测含量较低但功能强大的RN... 详细信息

荧光标记的核酸功能化金纳米探针结合了纳米材料与核酸技术的优势,具有增强的稳定性、良好的生物相容性、独特的光学性质及精确的可编程性,开辟了活细胞传感的新纪元.信号放大型的核酸功能化金纳米探针在原位检测含量较低但功能强大的RNA、蛋白质等生物标志物方面尤其表现出明显的优势.本文从活细胞成像分析的角度,重点介绍了荧光标记的核酸功能化金纳米探针的性质、设计原理及应用进展.

关键词：核酸功能化金纳米探针活细胞成像生物标志物信号扩增荧光共振能量转移

基于脑机接口竞赛脑电数据集的运动想象识别影响因素分析

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科学技术与工程 2020年第6期20卷 2369-2375页

作者：王雪娇阳王连明东北师范大学物理学院长春130024 海南热带海洋学院海洋科学与技术学院三亚572022

针对两个常用的脑机接口(brain computer interfacing,BCI)竞赛运动想象任务脑电数据集——2003Ⅲ和2005Ⅲa,分类识别率差异较大的问题,结合运动想象脑电信号的生理基础,从信号噪声、受试者反应程度和C3、C4通道信号能量差异三个方面对... 详细信息

针对两个常用的脑机接口(brain computer interfacing,BCI)竞赛运动想象任务脑电数据集——2003Ⅲ和2005Ⅲa,分类识别率差异较大的问题,结合运动想象脑电信号的生理基础,从信号噪声、受试者反应程度和C3、C4通道信号能量差异三个方面对两个数据集的数据进行了分析比较。结果表明:与2005Ⅲa数据集相比,2003Ⅲ数据集信噪比较高,受试者对运动想象任务的反应更明显,并且C3C4通道的信号能量差异趋势更标准,解释了对2003Ⅲ数据集的识别率普遍高于2005Ⅲa数据集这一现象,说明这三个因素是影响识别率的主要因素。研究为运动想象脑电数据有效性分析以及提高基于脑电的运动想象识别率提供了新的思路。

关键词：运动想象脑电数据集信号噪声反应程度能量差异

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Rho激酶抑制剂在青光眼治疗中的应用进展

国际眼科杂志 2019年第8期19卷 1313-1316页

作者：陈文诗宋娜张雨晴杨雪娇朱玮杨先青岛大学附属医院眼科

青光眼是以特征性视神经萎缩和视野缺损为共同特征的不可逆性致盲性眼病,高眼压是其最主要的发病机制,而导致高眼压的主要原因是房水传统流出途径中小梁网的病理学改变导致的房水流出阻力增加。Rho激酶抑制剂(ROCKi)是直接作用于小梁网(... 详细信息

青光眼是以特征性视神经萎缩和视野缺损为共同特征的不可逆性致盲性眼病,高眼压是其最主要的发病机制,而导致高眼压的主要原因是房水传统流出途径中小梁网的病理学改变导致的房水流出阻力增加。Rho激酶抑制剂(ROCKi)是直接作用于小梁网(TM)的降眼压药物,主要通过影响细胞骨架改变TM细胞形态、细胞运动、胞质分裂和平滑肌收缩等,从而增加房水流出、降低眼压,在美国和日本已被批准用于临床;具有改善视网膜血管灌注、促进视神经再生等作用,可能存在视神经保护作用;此外,具有减少滤过泡瘢痕化等作用。因此,ROCKi作为新型抗青光眼药物备受关注,本文将针对Rho/Rho激酶信号通路、ROCKi的作用机制及其临床应用展开综述。

关键词：青光眼 Rho激酶抑制剂小梁网治疗

1990—2019年中国胰腺癌发病和死亡情况及其变化趋势分析

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中国肿瘤 2022年第5期31卷 321-326页

作者：冯程程彭青兰焦学洋梁雪萌孙浩常巍昆明医科大学公共卫生学院云南昆明650500

[目的]描述和分析1990—2019年中国胰腺癌发病和死亡情况的变化趋势,为胰腺癌的防控工作提供线索和依据。[方法]基于2019年全球疾病负担研究(GBD2019)的公开数据,利用Joinpoint软件分析1990—2019年中国胰腺癌发病和死亡的变化趋势,计... 详细信息

[目的]描述和分析1990—2019年中国胰腺癌发病和死亡情况的变化趋势,为胰腺癌的防控工作提供线索和依据。[方法]基于2019年全球疾病负担研究(GBD2019)的公开数据,利用Joinpoint软件分析1990—2019年中国胰腺癌发病和死亡的变化趋势,计算年度变化百分比(annual percentage change,APC)、平均年度变化百分比(average annual percentage change,AAPC)及其95%可信区间(confidence interval,CI)。[结果]1990—2019年中国居民胰腺癌标化发病率从3.17/10万增长至5.78/10万,标化死亡率从3.34/10万增长至5.99/10万;中国居民胰腺癌的标化发病率和标化死亡率随年龄增加而增长;1990—2019年中国胰腺癌的发病和死亡呈上升趋势(AAPC值分别为1.9%和2.2%,P均<0.05),男性发病和死亡标化率的上升速度均高于女性,差异有统计学意义(P<0.05)。[结论]中国胰腺癌发病和死亡呈明显上升趋势,且在男性和老年人群中尤为明显,中国胰腺癌的防治工作仍面临巨大挑战。

关键词：胰腺癌发病率死亡率 Joinpoint回归时间趋势中国

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Rb原子记忆波段到通讯波段的频率转换研究

量子光学学报 2020年第4期26卷 350-355页

作者：薛娇阳邓琦琦李淑静陈力荣王海山西大学光电研究所量子光学与光量子器件国家重点实验室山西太原030006 山西大学极端光学协同创新中心山西太原030006 山西大学物理电子工程学院山西太原030006

量子通信网络由量子节点和量子信道构成。在量子节点上进行量子态的操控,其对应的是原子记忆波段;然而原子记忆波段的工作波长在光纤(量子信道)中的传输损耗很大,不利于远距离的信息传输。在本文中,我们选用周期极化铌酸锂波导晶体作为... 详细信息

量子通信网络由量子节点和量子信道构成。在量子节点上进行量子态的操控,其对应的是原子记忆波段;然而原子记忆波段的工作波长在光纤(量子信道)中的传输损耗很大,不利于远距离的信息传输。在本文中,我们选用周期极化铌酸锂波导晶体作为非线性介质,利用差频技术实现了铷原子D1线795 nm波段到1621 nm波段的频率转换,并研究了频率转换效率随实验参数的变化关系。

关键词：原子记忆波段通信波段差频技术频率转换