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The clinical and genetic characteristics in children with mitochondrial disease in China

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Science China(Life Sciences) 2017年第7期60卷 746-757页

作者： Fang Fang Zhimei Liu Hezhi Fang Jian Wu Danmin Shen suzhen sun Changhong Ding Tongli Han Yun Wu Junlan Lv Lei Yang Shufang Li Jianxin Lv Ying Shen Department of Neurology Beijing Children 's Hospital Capital Medical University National Center for Children's Health Beijing 100045 China Inspection Medical School Wenzhou Medical College Wenzhou 325035 China Translational Medical Center The General Hospital of the Chinese People's Liberation Army Beijing 100853 China Department of Neurology Children's Hospital of Hebei Province Hebei Medical University Shijiazhuang 050030 China

Mitochondrial disease was a clinically and genetically heterogeneous group of diseases, thus the diagnosis was very difficult to clinicians. Our objective was to analyze clinical and genetic characteristics of children with mitochondrial disease in China. We tested 141 candidate patients who have been suspected of mitochondrial disorders by using targeted next-generation sequencing(NGS), and summarized the clinical and genetic data of gene confirmed cases from Neurology Department, Beijing Children's Hospital, Capital Medical University from October 2012 to January 2015. In our study, 40 cases of gene confirmed mitochondrial disease including eight kinds of mitochondrial disease, among which Leigh syndrome was identified to be the most common type, followed by mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes(MELAS). The age-of-onset varies among mitochondrial disease, but early onset was common. All of 40 cases were gene confirmed, among which 25 cases(62.5%)with mitochondrial DNA(mtDNA) mutation, and 15 cases(37.5%) with nuclear DNA(nDNA) mutation. M.3243A>G(n=7)accounts for a large proportion of mtDNA mutation. The nDNA mutations include SURF1(n=7),PDHA1(n=2),and NDUFV1,NDUFAF6, SUCLA2, SUCLG1, RRM2 B, and C12orf65, respectively.

关键词： mitochondrial disease targeted next generation sequencing clinical features gene

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超高压液相色谱法测定鸡矢藤熊果苷含量

江苏农业科学 2010年第3期38卷 387-388页

作者：孙素珍漯河医学高等专科学校河南漯河462002

采用超高压液相色谱法快速分离和测定鸡矢藤中熊果苷的含量。样品水提取液,采用ACQUITY UPLCTM BEHC C18柱(100 mm×2.1 mm,1.7μm),V(乙腈)∶V(0.1%冰醋酸)=10∶1为流动相,梯度洗脱,柱温为室温。结果在0.1～10μg/L质量浓度范围,线性... 详细信息

采用超高压液相色谱法快速分离和测定鸡矢藤中熊果苷的含量。样品水提取液,采用ACQUITY UPLCTM BEHC C18柱(100 mm×2.1 mm,1.7μm),V(乙腈)∶V(0.1%冰醋酸)=10∶1为流动相,梯度洗脱,柱温为室温。结果在0.1～10μg/L质量浓度范围,线性关系良好,回收率为99.87%(RSD为1.8%)。该法样品前处理简单,分析速度快,回收率和灵敏度高,检出限低。

关键词：超高压液相色谱鸡矢藤熊果苷含量

Deep seismic sounding data reveal the crustal structures beneath Zoigê basin and its surrounding folded orogenic belts

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Science China Earth Sciences 2010年第2期53卷 203-212页

作者： JIA ShiXu,ZHANG XianKang,ZHAO JinRen,WANG FuYun,ZHANG ChengKe,XU ZhaoFan,PAN JiShun,LIU Zhi,PAN suzhen & sun GuoWei Geophysical Exploration Center,China Earthquake Administration,Zhengzhou 450002,China 1. Geophysical Exploration Center China Earthquake Administration Zhengzhou 450002 China

Songpan-Garze massif is located at the turning position of tectonics from the nearly west-east direction to the nearly north-south direction in the northeastern margin of Tibetan Plateau,with Zoigê basin in the centre of the *** this paper,we build a crustal structure model of Zoigê basin and its surrounding folded orogenic belts using the deep seismic sounding data in this *** also discuss structures and properties of the basement in Zoigê basin,tectonic relations between Zoigê upland basin and its surrounding folded orogenic belts,crustal deformation and thickening in the northeastern margin of Tibetan Plateau,and decoupling and relaxing processes in the *** results indicate that a special "Mesozoic basement" is formed of Triassic rocks with high density (2.65-2.75 g/cm3) and high velocity (5.6 km/s) in Zoigê ***-Garze tectonic massif was transformed into two types of tectonic units with different crustal structures,i.e.,relatively stable Zoigê upland basin and active folded orogenic belts around the basin,in the course of the crustal material of Tibetan Plateau flowing eastward and obstructed by surrounding stable *** thickening of the crust in the northeastern margin of Tibetan Plateau mainly occurred in the mid and lower crust,and the structure characterized by low velocities and multiple reflectors obviously appears in the folded orogenic belts around Zoigê *** implies that the mid and lower crust underwent a strong tectonic deformation in the folded orogenic *** thickness of the crust is about 50 km in Zoigê basin and the folded orogenic belts at the both southern and northern sides of Zoigê *** "Mountain root" cannot be *** is inferred that during the later orogenic period the eastwards flowing deep materials moved clockwise along the relatively relaxing southern side around the eastern tectonic knot under the obstructing of surrounding rigid massifs,and it resulted in the strong stretching action

关键词： Zoigê basin folded orogenic belt deep seismic sounding basement structure crustal structure and tectonics

儿童肺炎支原体脑炎的临床特征及预后不良危险因素分析

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中国全科医学 2023年第17期26卷 2125-2131页

作者：薛婧如孙素真河北医科大学附属河北省儿童医院神经内科、河北省小儿癫痫与神经疾病重点实验室河北省石家庄市050000

背景近年儿童肺炎支原体脑炎(MPIE)发病趋势有所增加,临床表现异质性和诊断手段局限性使得临床医生认识不足。目的分析儿童MPIE的临床特征并探讨患儿预后不良的独立危险因素,为降低MPIE神经后遗症的发生率和病死率提供理论依据。方法 ... 详细信息

背景近年儿童肺炎支原体脑炎(MPIE)发病趋势有所增加,临床表现异质性和诊断手段局限性使得临床医生认识不足。目的分析儿童MPIE的临床特征并探讨患儿预后不良的独立危险因素,为降低MPIE神经后遗症的发生率和病死率提供理论依据。方法回顾性分析2020年1月至2022年6月于河北省儿童医院神经内科住院治疗的101例MPIE患儿的临床资料,采用格拉斯哥预后分级(GOS)评估患儿出院时情况,分为预后良好组(73例)和预后不良组(28例)。分析两组MPIE患儿的临床特征,包括一般资料(性别、年龄等)、临床症状及体征、辅助检查结果[肺炎支原体(MP)、脑脊液、脑电图、影像学及免疫学等相关实验室检查指标]及治疗情况并进行比较。采用多因素Logistic回归分析探讨儿童MPIE预后不良的独立危险因素。结果 MPIE患儿预后良好率为72.3%(73/101),预后不良率为27.7%(28/101)。患儿多急性起病,学龄期儿童为主,全年散发,冬春季占比较高,最常见的症状是发热,神经系统表现以言语障碍和运动障碍等局灶性损害较多见,部分出现癫痫发作,甚至发展为难治性癫痫持续状态。脑脊液肺炎支原体-聚合酶链式反应阳性率为26.7%(27/101)。脑电图主要表现为背景节律的慢化,而颅脑磁共振成像(MRI)主要表现为受累部位的长T1、长T2信号,两者的异常率分别为68.3%(69/101)和44.6%(45/101)。结合细胞免疫和体液免疫指标以及部分患儿的血或脑脊液可检测到抗N-甲基-D-天冬氨酸受体、髓鞘少突胶质细胞糖蛋白等免疫性脑炎和脱髓鞘相关抗体。预后良好组与预后不良组患儿精神行为异常、意识障碍、癫痫发作、癫痫持续状态、局灶性神经功能障碍、脑脊液白细胞计数、脑电图异常、颅脑MRI异常、糖皮质激素治疗、丙种球蛋白治疗比较,差异有统计学意义(P<0.05)。多因素Logistic回归分析结果显示,局灶性神经系统功能障碍[OR=6.292,95%CI(1.188,33.327),P=0.035]、癫痫持续状态[OR=18.031,95%CI(1.231,264.082),P=0.031]、脑电图异常[OR=7.379,95%CI(1.077,50.548),P=0.042]、颅脑MRI异常[OR=5.757,95%CI(1.105,30.003),P=0.038]和需糖皮质激素治疗[OR=12.441,95%CI(1.082,143.114),P=0.043]是儿童MPIE预后不良的独立危险因素。结论局灶性神经系统功能障碍、癫痫持续状态、脑电图异常、颅脑MRI异常和需糖皮质激素治疗可能是儿童MPIE预后不良的独立危险因素,临床医师应高度重视,早期识别以降低儿童MPIE神经后遗症的发生率和病死率。

关键词：肺炎支原体脑炎儿童预后危险因素临床特征 Logistic模型回顾性研究

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Serotypes of human enteroviruses causing pediatric viral encephalitis and meningitis in Hebei province, China, from 2013 to 2015

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Pediatric Investigation 2018年第2期2卷 98-104页

作者： Xiangpeng Chen Jiayun Guo Jingjie Li Qiuping Li Junhong Ai suzhen sun Zhengde Xie Key Laboratory of Major Diseases in Children Ministry of Education Beijing Key Laboratory of Pediatric Respiratory Infection DiseasesVirology Laboratory Beijing Pediatric Research Institute Beijing Children's Hospital Capital Medical University National Center for Children's Health Beijing China Department of Neurology Children's Hospital of Hebei Province Shijiazhuang China

Importance:Viral encephalitis and meningitis are severe infectious diseases responsible for substantial morbidity and mortality in *** are typically the most common causative agents of viral encephalitis and ***:This study aimed to investigate the etiology of viral encephalitis and meningitis among children in Hebei province,***:Cerebrospinal fluid samples from children with viral encephalitis (n=309) and meningitis (n=133) were collected between Nov 2013 and Dec 2015 and viral pathogens were identified by real-time and multiplex *** and sequencing of partial VP1 genes was used to type ***:The causative pathogen was successfully detected in 176 (57％) patients with viral encephalitis and 82 (61.7％) patients with viral *** most common causative agents of both viral encephalitis and meningitis were enteroviruses (55.7％ and 64.6％ of cases,respectively).The most common enterovirus serotypes identified were echovirus 18,echovirus 6 and echovirus *** 18 accounted for 74.4％ of all typed enteroviruses and caused a viral encephalitis and meningitis outbreak in Hebei province in *** contrast,the major enterovirus serotypes circulating in 2014 were echovims 6 and echovirus ***:Enteroviruses were the main causative agents of viral encephalitis and meningitis in children in Hebei province from Nov 2013 to Dec *** 18 became the leading cause of viral encephalitis and meningitis for the first time in Hebei province in 2015.

关键词： Viral encephalitis Viral meningitis Enterovirus Children

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microRNA/microRNA* complementarity is important for the regulation pattern of NFYA5 by miR169 under dehydration shock in Arabidopsis

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microRNA/microRNA* complementarity is important for the regu...

中国生物工程学会第十一届学术年会暨2017年全国生物技术大会

作者： Qingguo Du Meng Zhao Wei Gao suzhen sun Wen-Xue Li National Key Facility for Crop Gene Resources and Genetic Improvement Institute of Crop Science Chinese Academy of Agricultural Sciences National Engineering Laboratory for Wheat and Maize Maize Institute Shandong Academy of Agricultural Sciences

MicroRNAs regulate gene expression at the m RNA and translational levels. Although our previous research showed that expression of miR169 and one of its targets, NFYA5, is down-and up-regulated by drought stress, respectively, the current study shows that expression of both miR169 and NFYA5 are induced by dehydration shock. Unlike overexpression of MIR169 a/b, overexpression of MIR169 i/l did not decrease NFYA5 transcripts but increased NFYA5 protein levels. NFYA5 protein abundance also increased in mir169 a knock-out mutants and 35 S::MIR169 l mir169 a double mutants. When bulge #11 and bulge #16 in the miR169/miR169 duplex were mutated, both NFYA5 transcripts and the corresponding protein levels were lower in 35 S::MIR169 l-mut transgenic plants than in wild-type(WT) plants, and the 35 S::MIR169 l-mut transgenic plants were as sensitive to drought stress as the 35 S::MIR169 a plants. The mRNA and protein levels of NFYA5 did not differ substantially between WT and 35 S::MIR169 a-mut transgenic plants when the two bulges were introduced in the miR169 a/miR169 a duplex. Both bulge #11 and bulge #16 in the miR169/miR169 duplex were essential for different regulation patterns of NFYA5 by miR169 a and miR169 l. These results increase the understanding of regulatory specialization in one MIR family, and also increase our understanding of the importance of microRNA/microRNA secondary structure.

关键词： Arabidopsis microRNA/microRNA* complementarity miR169 regulation pattern dehydration

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儿童自身免疫性癫痫脑病预后的研究进展

中国全科医学 2021年第20期24卷 2619-2623页

作者：张凯卢红茹孙素真河北医科大学附属河北省儿童医院河北省石家庄市050000

自身免疫性癫痫脑病(AEE)是一种潜在的、可治疗的神经系统疾病。其通常指在有脑病的情况下发作的急性或亚急性癫痫。与儿童有关的AEE的神经元靶点主要有NMDA受体、GABA受体、LGI1受体、AMPA受体、甘氨酸受体、MOG等。目前判断儿童AEE预... 详细信息

自身免疫性癫痫脑病(AEE)是一种潜在的、可治疗的神经系统疾病。其通常指在有脑病的情况下发作的急性或亚急性癫痫。与儿童有关的AEE的神经元靶点主要有NMDA受体、GABA受体、LGI1受体、AMPA受体、甘氨酸受体、MOG等。目前判断儿童AEE预后主要是通过改良的Rankin量表(mRS)和儿童脑功能分类量表(PCPC)。通过量表评估85%的患儿有良好的预后,但有研究显示有一部分患儿存在学习能力下降、认知障碍及社交障碍等后遗症,然而在量表中没有明显的体现。本文将对儿童AEE预后方面的最新研究进展做综述,旨在为临床医师早期随访、识别及预防提供一定的理论基础。

关键词：自身免疫性癫痫癫痫脑疾病预后综述

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银翘颗粒薄层鉴别的研究

广东化工 2010年第9期37卷 53-54页

作者：孙素珍广东食品药品职业学院制药系广东广州510520

建立银翘颗粒的薄层鉴别方法;方法:采用薄层色谱法鉴别银翘颗粒中的金银花、连翘;结果:薄层色谱斑点清晰,空白对照无干扰;结论:所建立的方法简便,结果准确,可用于银翘颗粒制剂的薄层鉴别。

关键词：银翘颗粒薄层鉴别研究

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药物制剂实训教学模式探索

广东化工 2010年第8期37卷 234-235页

作者：孙素珍广东食品药品职业学院制药系广东广州510520

随着教育制度的不断改革,我国的高等教育逐步由学科教育向职业教育转变,职业教育如何从传统的教育模式中走出来,教育改革是摆在我们面前一个重要课题。为了培养制药行业的职业技能人才,必须对药物制剂实训教学模式进行改革。文章从训教... 详细信息

随着教育制度的不断改革,我国的高等教育逐步由学科教育向职业教育转变,职业教育如何从传统的教育模式中走出来,教育改革是摆在我们面前一个重要课题。为了培养制药行业的职业技能人才,必须对药物制剂实训教学模式进行改革。文章从训教学过程中进行思考和总结,提出药物制剂实训教学模式的理论和观点,以进一步推动职业教育的改革和发展。

关键词：药物制剂实训教学模式探索