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1例GJB2基因突变胎儿的遗传性耳聋分析

大连医科大学学报 2024年第1期46卷 87-89,93页

作者：谢岩张明杰刘晓翠郭瑞红崔凤姬赤峰市妇产医院检验科内蒙古赤峰024000 赤峰市妇产医院内蒙古人类精子库内蒙古赤峰024000 赤峰市妇产医院产科内蒙古赤峰024000 赤峰市妇产医院分子遗传室内蒙古赤峰024000

1临床资料孕妇,29岁,身高165 cm,体重58 kg。孕期在赤峰市妇产医院进行常规检查,包括血常规、凝血五项、血压、心电图检查,结果均正常;无传染病。孕妇本身表型正常,因胎儿父亲有耳聋家族史,因此于2021年12月27日(孕19+4周)来赤峰市妇产... 详细信息

1临床资料孕妇,29岁,身高165 cm,体重58 kg。孕期在赤峰市妇产医院进行常规检查,包括血常规、凝血五项、血压、心电图检查,结果均正常;无传染病。孕妇本身表型正常,因胎儿父亲有耳聋家族史,因此于2021年12月27日(孕19+4周)来赤峰市妇产医院行羊水穿刺进行产前诊断。羊水染色体核型分析结果正常。

关键词： GJB2基因遗传性耳聋产前诊断

Clinical and radiological features of medullary infarction caused by spontaneous vertebral artery dissection

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Stroke & Vascular Neurology 2022年第3期7卷 245-250页

作者： Chun Yu Zhu Zhu Siying Li Yi Xu Wei yan xiaocui Kang Yao Li Qiang Dong Weijun Tang Xiang Han Intensive Care Unit of West Campus Huashan Hospital Fudan UniversityShanghaiChina Department of Neurology University of KentuckyLexingtonKentuckyUSA Department of Anesthesiology Zhongshan Hospital Fudan UniversityShanghaiChina Department of Neurology Fifth People's Hospital of Shanghai Fudan UniversityShanghaiChina Department of Neurology Huashan Hospital Fudan UniversityShanghaiChina Neurology Huashan HospitalState Key Laboratory of Medical NeurobiologyFudan UniversityShanghaiChina Department of Radiology Huashan Hospital Fudan UniversityShanghaiChina

Background and purpose Medullary infarction(MI)caused by spontaneous vertebral artery dissection(sVAD)is an important type of *** is important to distinguish sVAD from other causes of stroke since the treatment strategies and prognosis were different between *** this study,we aimed to explore the clinical and radiological features of MI in patients with acute MI caused by *** Patients with acute MI caused by sVAD and non-sVAD in a single tertiary hospital were enrolled from 2010 to ***,clinical and image features were collected and *** lesions were categorised into three levels rostrocaudally and four arterial groups:anteromedial,anterolateral,lateral and *** A total of 128 patients with MI were enrolled with 47 cases of sVAD and 81 cases of *** with sVAD were younger than those with non-sVAD(med 44 years old vs 58 years old).The sVAD group was less likely to have hypertension(44.68%vs 67.90%;p=0.010)and diabetes(19.15%vs 45.69%;p=0.003),but more likely to have non-sudden onset(27.66%vs 9.87%,p=0.009),minor neck injury(19.15%vs 1.23%;p=0.001)and headache(46.81%vs 7.41%;p=0.000).Vertically,sVAD became more common in caudal medulla than in rostral ***,the sVAD group was more likely to have lateral MI(91.48%vs 2.96%,p=0.000).In multivariable logistic regression analysis,age,non-sudden onset and headache were independently associated with sVAD with ORs of 0.935(95%CI 0.892 to 0.981,p=0.006),3.507(95%CI 1.060 to 11.599,p=0.040)and 5.426(95%CI 1.673 to 17.599,p=0.005).Conclusion sVAD was not uncommon in patients with MI,especially in patients with lateral *** patients with headache and non-sudden onset should remind clinician the possibility of sVAD.

关键词： dissection headache infarction

利用橙汁渣生产甲基硒代半胱氨酸饲料添加剂的研究

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中国饲料 2024年第8期 112-115页

作者：丁武亿刘瑞平郭晓波林小翠胡艳连海郭婧方圆钟全洪黄美峰曾庆祥赣州畜牧水产研究所江西赣州341000 赣州市畜牧业发展和动物疫病防控中心江西赣州341000

文章旨在以橙汁渣为基础底物,添加适量的小麦粉和菌种活化物,探索复合菌发酵对亚硒酸钠转化有机硒(甲基硒代半胱氨酸)的影响,试验共分6组,每组6个重复,对照组为1.0%亚硒酸钠+小麦粉组;5个试验组用57%橙汁渣代替小麦粉,并分别添加0.2%、0... 详细信息

文章旨在以橙汁渣为基础底物,添加适量的小麦粉和菌种活化物,探索复合菌发酵对亚硒酸钠转化有机硒(甲基硒代半胱氨酸)的影响,试验共分6组,每组6个重复,对照组为1.0%亚硒酸钠+小麦粉组;5个试验组用57%橙汁渣代替小麦粉,并分别添加0.2%、0.6%、0.8%、1.0%、1.2%亚硒酸钠。各组添加1%的复合菌与橙汁渣、小麦粉等底物混合后,在37℃恒温发酵96?h,测定其有机硒(甲基硒代半胱氨酸)转化率。结果表明,在本试验条件下,与对照组相比,试验组添加57%橙汁渣为基础底物进行复合菌发酵对亚硒酸钠转化为有机硒(甲基硒代半胱氨酸)的转化率显著提高(P <0.05),有机硒转化率超99%,甲基硒代半胱氨酸转化率超72%,其中处理5组甲基硒代半胱氨酸转化率最高,为93.4%。结论 :本研究为以甲基硒代半胱氨酸为主的有机硒饲料添加剂的开发提供思路,充分实现农副产品资源化利用,为满足动物生理需要和生产富硒保健食品提供优质硒源。

关键词：有机硒橙汁渣甲基硒代半胱氨酸

Coupling between the Grain for Green Program and a household level-based agricultural eco-economic system in Ansai,Shaanxi Province of China

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Journal of Arid Land 2020年第2期12卷 199-214页

作者： LI Yue WANG Jijun HAN Xiaojia GUO Mancai CHENG Simin QIAO Mei ZHAO xiaocui Institute of Soil and Water Conservation Northwest A&F UniversityYangling 712100China Institute of Soil and Water Conservation Chinese Academy of Sciences and Ministry of Water ResourcesYangling 712100China

The implementation of the Grain for Green Program(GGP)has changed the development track of the agricultural eco-economic system in *** response to the results of a lag study that investigated the coupling between the GGP and the agricultural eco-economic system in a loess hilly region,we used a structural equation model to analyze the survey data from 494 households in Ansai,a district of yan’an City in Shaanxi Province of China in *** model clarified the direction and intensity of the coupling between the GGP and the agricultural eco-economic *** coupling benefits were derived through linkages between the program and various chains in the agricultural eco-economic *** GGP,the agroecosystem of Ansai and their potential coupling effects were in a state of general *** agroecosystem directly affected the coupling effect,with the standardized path coefficient of 0.87,indicating that the agroecosystem in Ansai at this stage provided basic material support for the coupling between the GGP and the agricultural eco-economic *** direct path coefficient of agroeconomic system impacted on the coupling effect was-0.76,indicating that partial contradictions occurred between the agroeconomic system and the coupling ***,although the current agroecosystem in Ansai should be provided sufficient agroecological resources for the benign coupling between the program and the agricultural eco-economic system,agricultural development failed to effectively transform agroecological resources into agricultural economic advantages in this region,which resulted in a relative lag in the development of the agricultural economic ***,the coupling between the GGP and the agricultural eco-economic system was *** improve the coupling and the sustainable development of the agricultural eco-economic system in cropland retirement areas,the industrial structure needs to be diversified,the agricultural resources(including agroecological r

关键词： Grain for Green Program agroecosystem agroeconomic system agrosocial system coupling effect household structural equation model

Short-term Effects of Nitrogen Deposition on Soil Respiration of Cinnamomum camphora Plantation

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Chinese Forestry Science and Technology 2012年第3期11卷 37-38页

作者： Zhang Xuyuan yan Wende Ma Xiuhong Zheng Wei Wang Guangjun Liang xiaocui School of Life Science & Technology Central South University of Forestry & Technology National Engineering Laboratory for Applied Technology of Forestry & Ecology in South China Tianzhu Nursery Garden

The nitrogen deposition experiments on Cinnamomum camphora plantation of Hunan provincial botanical garden were simulated from June the 7th to October the 7th,2010,the nitrogen deposition levels was respectively as control(CK, 0 g·m-2 a-1),low nitrogen(LN,5 g·m-2 a-1),medium nitrogen(MN,15 g·m-2 a-1) and high nitrogen(HN, 30 g·m -2 a-1).The soil respiration speed and soil surface temperature and the surface water content of the soil were determined by LI-8100 measuring *** results show that the average values of soil respiration speed were CK (4.09±0.66μmol·m-2 s-1),LN(2.39±029μmol·m-2 s-1), MN(2.18±0.19μmol·m-2s-1),HN (2.28±0.25μmol·m-2 s-1),and the treatment of the CK was obviously higher than the other three treatments（P10 （temperature sensitivity coefficients） for soil respiration of CK,LN,MN and HN treatments were 1.84,1.71,1.83 and *** was positive correlation between the respiration speed and the surface（≤10 cm） temperature of tested *** was negative correlation between the respiration speed and the surface（≤5 cm） water content of tested soil（P>0.05）.Volumetric water content of 5-cm soil was between 0.266 6-0.294 4(m3·m-3), and the monthly content did not vary too much during the research period（1.8%-9.4%）.The findings suggest that the initial stage of nitrogen deposition obviously influenced the soil respiration of *** plantation.

关键词： soil respiration nitrogen deposition Q10value Cinnamomum camphora plantation

春繁阶段赣北地区中华蜜蜂生产性能及生物学特性研究

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中国蜂业 2024年第5期75卷 18-21页

作者：韩兵庚张雪琦张猛张串联周伟良娄文赵者云伊作林高艳夏晓翠江西省养蜂研究所南昌330052

为提高蜂群利用率,观察赣北地区中华蜜蜂从越冬后至第一个采集期(山乌桕花期)开始,蜂群增长变化等情况。试验结果表明,从1月初开始包装春繁,至3月中下旬培育新蜂王、组织蜂群分蜂,蜂群可达到较高利用效率;处女王的交尾成功率与蜂群群势... 详细信息

为提高蜂群利用率,观察赣北地区中华蜜蜂从越冬后至第一个采集期(山乌桕花期)开始,蜂群增长变化等情况。试验结果表明,从1月初开始包装春繁,至3月中下旬培育新蜂王、组织蜂群分蜂,蜂群可达到较高利用效率;处女王的交尾成功率与蜂群群势呈负相关,1足框蜂交尾成功率最高;蜂王的日产卵量与外界蜜粉源呈正相关,蜂王日产卵量可高达640余粒。在江西中蜂养殖生产中,常因春繁管理不当而影响整个蜂场的采集力,本试验可以为其提供更精准的春繁模式,指导蜂农适时春繁来培育采集蜂,从而提高养蜂收益。

关键词：中华蜜蜂春繁生产性能生物学特性

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Genome wide abnormal DNA methylome of human blastocyst in assisted reproductive technology

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Journal of Genetics and Genomics 2017年第10期44卷 475-481页

作者： Guoqiang Li yang Yu Yong Fan Congru Li xiaocui Xu Jialei Duan Rong Li Xiangjin Kang Xin Ma Xuepeng Chen Yuwen Ke Jie yan Ying Lian Ping Liu Yue Zhao Hongcui Zhao Yaoyong Chen Xiaofang Sun Jianqiao Liu Jie Qiao Jiang Liu Ministry of Education Key Laboratory of Assisted Reproduction Beijing Key Laboratory of Reproductive Endocrinology and Assisted ReproductiveTechnology Center of Reproductive Medicine Peking University Third Hospital Beijing 100191 China GAS Key Laboratory of Genome Sciences and Information Collaborative Innovation Center of Genetics and Development Beijing Institute of GenomicsGAS Beijing 160101 China Key Laboratory for Major Obstetric Diseases of Guangdong Province The Third Affiliated Hospital of Guangzhou Medical University Guangzhou 510150China University of Chinese Academy of Sciences Beijing 100029 China

Proper reprogramming of parental DNA methylomes is essential for mammalian embryonic development. However, it is unknown whether abnormal methylome reprogramming occurs and is associated with the failure of embryonic development. Here we analyzed the DNA methylomes of 57 blastocysts and 29 trophectoderm samples with different morphological grades during assisted reproductive technology （ART） practices. Our data reveal that the global methylation levels of high-quality blastocysts are similar （0.30 ± 0.02, mean ± SD）, while the methylation levels of low-quality blastocysts are divergent and away from those of high-quality blastocysts. The proportion of blastocysts with a methylation level falling within the range of 0.30± 0.02 in different grades correlates with the live birth rate for that grade. Moreover, abnormal methylated regions are associated with the failure of embryonic development. Furthermore, we can use the methylation data of cells biopsied from trophectoderm to predict the blastocyst methylation level as well as to detect the aneuploidy of the blastocysts. Our data indicate that global abnormal methylome reprogramming often occurs in human embryos, and suggest that DNA methylome is a potential biomarker in blastocyst selection in ART.

关键词： Human Abnormal Blastocyst Methylome ART

2种方法在典型岩溶区地下水质量评价中的对比——以地苏地下河为例

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环境工程技术学报 2021年第2期11卷 291-297页

作者：乔肖翠李雪刘琰湖泊水污染治理与生态修复技术国家工程实验室中国环境科学研究院国家环境保护饮用水水源地保护重点实验室中国环境科学研究院

选择合适的地下水质量评价方法是保证评价结果科学合理的关键。以典型西南岩溶区地苏地下河系为研究对象,运用水质指数法和模糊综合指数法对该地下河系具有代表性的采样点水质进行评价。结果表明:地苏地下河系水质总体较好,2种方法评价... 详细信息

选择合适的地下水质量评价方法是保证评价结果科学合理的关键。以典型西南岩溶区地苏地下河系为研究对象,运用水质指数法和模糊综合指数法对该地下河系具有代表性的采样点水质进行评价。结果表明:地苏地下河系水质总体较好,2种方法评价得到的水质劣于GB/T 14848—2017《地下水质量标准》Ⅲ类水质的点位分别占全部水样的21.43%和32.14%,主要超标指标为NO-3,其最高检出浓度是Ⅲ类水质限值的2.3倍,超标点位主要集中于人类活动较强烈的地苏乡。在28个点位中,2种方法评价结果一致的点位有15个,存在差异点位的评价结果仅相差一个水质级别。水质指数法能够满足水质类别划分及水质定量评价的要求,但是对于超标指标不同的水样可比性较差;模糊综合指数法可精确地反映指标实际浓度与水质分级界限的接近程度,量化了所有评价指标对地下水水质的影响权重,使结果更精确,但是计算比较复杂,可操作性较差,且不能识别主要超标指标,在量化所有参评指标时有可能掩盖对人体健康和生态环境威胁较大的指标的影响。因此在实际应用中,应根据监测数据和评价目的选择合适的评价方法,使评价结果既能反映水体的实际情况,又能满足管理需要。

关键词：岩溶地下水水质评价模糊综合指数法水质指数法地苏地下河

玻璃体切除术后非直接损伤导致白内障的形成机制和防治对策

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眼科学报 2007年第4期23卷 252-256页

作者：刘晓萃王萍严宏第四军医大学唐都医院眼科西安710038

玻璃体切除术已广泛应用于临床,尤其在各种玻璃体疾病、视网膜疾病和眼外伤的救治过程中得到了广泛应用。流行病学资料表明玻璃体切除术后在非直接损伤晶状体的情况下,手术后核性白内障的发生率明显增高,其发生机制和有效的防治策略是... 详细信息

玻璃体切除术已广泛应用于临床,尤其在各种玻璃体疾病、视网膜疾病和眼外伤的救治过程中得到了广泛应用。流行病学资料表明玻璃体切除术后在非直接损伤晶状体的情况下,手术后核性白内障的发生率明显增高,其发生机制和有效的防治策略是该领域研究热点。研究结果表明:玻璃体切除术后白内障高发生率的主要机制包括玻璃体物理性/化学性变化、手术时间、患者年龄以及眼部疾患、玻璃体切除术后葡萄膜炎等因素,其中玻璃体切除术后晶状体氧分压升高,增加了晶状体周围氧暴露时间是主要因素。因此,术中采用降低氧浓度,术后使用锌?去铁草酰胺等措施以期减少白内障的发生率,为玻璃体手术后白内障的药物预防和治疗提供了新思路。眼科学报2007;23:252-256.

关键词：氧分压玻璃体手术白内障