检索结果-南通市图书馆

A novel missense mutation in obscurin gene in a Chinese consanguineous family with left ventricular noncompaction

在线全文

学校读者我要写书评

暂无评论

Journal of Geriatric Cardiology 2022年第7期19卷 531-538页

作者： Xue-Qi DONG Pei-Pei QIN Di ZHANG Qiong-Yu ZHANG Yi QU Lin ZHAO Yi-Ting LU Yu-Xiao HU chun-Xue YANG Xin-Chang LIU Ya-Xin LIU Xian-Liang ZHOU Department of Cardiology Fuwai HospitalNational Center for Cardiovascular DiseaseChinese Academy of Medical Sciences and Peking Union Medical CollegeBeijingChina Department of Obstetrics and Gynecology Peking Union Medical College HospitalBeijingChina

BACKGROUND Left ventricular noncompaction(LVNC) is an increasingly recognised cardiomyopathy of which a significant percentage are genetic in origin. The purpose of the present study was to identify potential pathogenic mutation leading to disease in a Chinese LVNC *** A 3-generation family affected by LVNC was recruited. Clinical assessments were performed on available family members, with clinical examination, ECG, echocardiography and cardiac MRI. The proband(Ⅰ-2), the proband’s daughter(Ⅱ-1, affected) and mother(Ⅲ-1, unaffected) were selected for WGs. sanger sequencing were performed in all of the 4 surviving family *** Combined whole genome sequencing with linkage analysis identified a novel missense mutation in the giant protein obscurin(OBsCN NM_001098623, c.C19063T), as the only plausible disease-causing variant that segregates with disease among the four surviving individuals, with interrogation of the entire genome excluding other potential causes. This c.C19063T missense mutation resulted in p.R6355W in the encoded OBsCN protein. It affected a highly conserved residue in the C terminus of the obscurin-B-like isoform between the PH and sTKc domains, which was predicted to affect the function of the protein by different bioinformatics *** Here we present clinical and genetic evidence implicating the novel R6355W missense mutation in obscurin as the cause of familial LVNC. This expands the spectrum of obscurin’s roles in cardiomyopathies. It furthermore highlights that rare obscurin missense variants, currently often ignored or left uninterpreted, should be considered to be relevant for cardiomyopathies and can be identified by the approach presented here. This study also provided new insights into the molecular basis of OBsCN mutation positive LVNC.

关键词： ventricular mother linkage

GRACE重力卫星探测南极冰盖质量平衡及其不确定性

在线全文

学校读者我要写书评

暂无评论

地球物理学报 2015年第3期58卷 780-792页

作者：高春春陆洋张子占史红岭朱传东中国科学院测量与地球物理研究所大地测量与地球动力学国家重点实验室武汉430077 中国科学院大学北京100049 美国德克萨斯大学空间研究中心奥斯汀78759 极地测绘科学国家测绘局重点实验室武汉430079 地理空间信息工程国家测绘地理信息局重点实验室北京100830

2002年GRACE重力卫星的成功发射为南极冰盖质量平衡的研究提供了重力探测的新纪元.本文利用美国德克萨斯大学CsR公布的2003年1月到2013年12月期间的RL05版本GRACE月重力场数据,采用最优平均核函数法和组合滤波法两种GRACE后处理方法反... 详细信息

2002年GRACE重力卫星的成功发射为南极冰盖质量平衡的研究提供了重力探测的新纪元.本文利用美国德克萨斯大学CsR公布的2003年1月到2013年12月期间的RL05版本GRACE月重力场数据,采用最优平均核函数法和组合滤波法两种GRACE后处理方法反演了南极冰盖质量的时空变化.结果表明:在2003—2013年期间南极冰盖物质平衡呈明显的负增长状态,质量变化趋势为-163±50Gt/a(GW13)、-129±41Gt/a(IJ05)、-81±27Gt/a(W12a),加速度为-8±10Gt/a2,质量消融的主要区域分布在西南极阿蒙森海岸和南极半岛的北部.另外本文还重点探讨了可能影响到估算结果的各项误差及不确定性,分析结果显示影响南极冰盖质量平衡估算结果的最大误差源为GIA改正.通过假设检验和信息准则对时间序列分析中拟合参数的合理选取进行了探讨和分析,在联合周年项、半年项和s2、K2、K1潮汐混频项进行拟合分析时发现K1项对拟合结果的加速度影响比其他周期项稍大,尽管考虑该项的合理性因当前GRACE数据时间序列长度有限而无法确切证实,但K1项的影响值得后续关注.对比两种GRACE后处理方法的结果发现:当采用的数据时间跨度一致,误差改正方法相同,两种相异的后处理方法,其估算结果也具有较好的一致性.

关键词：南极冰盖质量平衡 GRACE 不确定性后处理方法

Cardiovascular risks of postmenopausal women with low-density lipoprotein-cholesterol <130 mg/dL in Chaoshan region of China

在线全文

学校读者我要写书评

暂无评论

south China Journal of Cardiology 2019年第2期20卷 79-85页

作者： WANG Ying HUANG Zhen-chun HE Xin-jie Department of Cardiology Shantou Central Hospital (Affiliated Shantou Hospital of Sun Yat-sen University)

Background Many postmenopausal women with low-density lipoprotein-cholesterol(LDL-C)<130 mg/dL from Chaoshan region suffer from coronary artery diseases,especially severe coronary artery lesions. However,few studies s... 详细信息

Background Many postmenopausal women with low-density lipoprotein-cholesterol(LDL-C)shan region suffer from coronary artery diseases,especially severe coronary artery lesions. However,few studies specifically focused on the cardiovascular risks of this subgroup of postmenopausal *** A total of 270 postmenopausal women with LDL-Cshan region were enrolled in this cohort study. Patients with angiographically proven coronary artery diseases(CAD)served as CAD group(n=174),while the ones with angiographically proven normal coronary arteries served as Control group(n=96).Results The age of CAD group(68.5±8.4 years)was older than that of Control group(60.0±6.9 years)(Ps of hypertension,diabetes mellitus(DM)and hyperuricemia in CAD group were significantly higher than those of Control group(Psons). The serum level of uric acid(UA)in CAD group was significantly higher than that in Control group(Pscular predictors of postmenopausal women with LDL-Cshan Region[ORAGE:1.140(95%CI:1.095-1.188),ORDM:2.740(95%CI:1.368-5.486),ORUA:1.003(95%CI:1.001-1.006),PAGEsions Postmenopausal women with LDL-Cs of hyperuricemia and DM. Age,DM and UA are considered as independent cardiovascular risk factors in the postmenopausal women with LDL-C shan Region of China.[s Chin J Cardiol 2019;20(2):79-85]

关键词： coronary artery disease postmenopausal women low-density lipoprotein-cholesterol uric acid

Mobile population dynamics and malaria vulnerability:a modelling study in the China-Myanmar border region of Yunnan Province,China

在线全文

学校读者我要写书评

暂无评论

Infectious Diseases of Poverty 2018年第1期7卷 355-365页

作者： Tian-Mu Chen shao-sen Zhang Jun Feng Zhi-Gui Xia chun-Hai Luo Xu-Can Zeng Xiang-Rui Guo Zu-Rui Lin Hong-Ning Zhou shui-sen Zhou Department of Malaria National Institute of Parasitic DiseasesChinese Center for Disease Control and Prevention207 Rui Jin Er RoadShanghai 200025People’s Republic of China WHO Collaborating Centre for Tropical Diseases 207 Rui Jin Er RoadShanghai 200025People’s Republic of China National Center for International Research on Tropical Diseases Ministry of Science and Technology207 Rui Jin Er RoadShanghai 200025People’s Republic of China Key Laboratory of Parasite and Vector Biology Ministry of Health207 Rui Jin Er RoadShanghai 200025People’s Republic of China Yunnan Institute of Parasitic Diseases PuerPeople’s Republic of China Yingjiang County Center for Disease Control and Prevention DehongPeople’s Republic of China

Background:The China-Myanmar border region presents a great challenge in malaria elimination in China,and it is essential to understand the relationship between malaria vulnerability and population mobility in this ***:A community-based,cross-sectional survey was performed in five villages of Yingjiang county during september ***-prick blood samples were obtained to identify asymptomatic infections,and imported cases were identified in each village(between January 2013 and september 2016).A stochastic simulation model(ssM)was used to test the relationship between population mobility and malaria vulnerability,according to the mechanisms of malaria ***:Thirty-two imported cases were identified in the five villages,with a 4-year average of 1 case/year(range:0-5 cases/year).No parasites were detected in the 353 blood samples from *** median density of malaria vulnerability was 0.012(range:0.000-0.033).The average proportion of mobile members of the study population was 32.56%(range:28.38-71.95%).Most mobile individuals lived indoors at night with mosquito *** ssM model fit the investigated data(χ2=0.487,P=0.485).The average probability of infection in the members of the population that moved to Myanmar was 0.011(range:0.0048-0.1585).The values for simulated vulnerability increased with greater population mobility in each ***:A high proportion of population mobility was associated with greater malaria vulnerability in the China-Myanmar border *** population-specific measures should be used to decrease the risk of malaria re-establishment in China.

关键词： Malaria Importation Vulnerability Mobile population Individual-based model

Identification of a novel mutation in the FGF10 gene in a Chinese family with obvious congenital lacrimal duct dysplasia in lacrimo-auriculo-dento-digital syndrome

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

International Journal of Ophthalmology(English edition) 2023年第4期16卷 499-504页

作者： Hong-Yang Zhang chun-Yan Zhang Fei Wang Hai Tao Ya-Ping Tian Xi-Bin Zhou Fang Bai Peng Wang Jia-Yi Cui Min-Jie Zhang Li-Hua Wang senior Department of Ophthalmology the Third Medical CenterChinese PLA General HospitalBeijing 100039China Center for Birth Defects Prevention and Control Technology Research and Innovation Chinese PLA General HospitalBeijing 100853China

AIM:To identify the pathogenic gene variant in a family with lacrimo-auriculo-dento-digital syndrome[LADD(MIM 149730)]showing congenital lacrimal duct dysplasia as the main clinical manifestation and lay the foundation for future research on the pathogenic ***:Ophthalmological examinations,including slit-lamp biomicroscopy and lacrimal duct probing,and computed tomography dacryocystography(CT-DCG)were performed for all *** family pedigree was drawn,genetic features were analyzed,and the genomic DNA of the subjects was *** genes were screened via whole exome sequencing(WEs)and confirmed using sanger ***:six patients belonged to this three-generation family,and their clinical manifestations included congenital nasolacrimal duct obstruction,congenital absence of lacrimal puncta and canaliculi,lacrimal fistulae,and limb *** pattern indicates autosomal dominant *** was based on the clinical characteristics of LADD syndrome,which presented in all the patients in this family.A novel frameshif t mutation in the FGF10 gene(NM_004465.1),c.234dup C(***79Leus*15),was identified in all patients via *** variant was confirmed by sanger sequencing and classified as a“pathogenic mutation”according to the American College of Medical Genetics and Genomics(ACMG)variant interpretation ***:A novel frameshift mutation in the FGF10 gene is found in all *** finding helps this family with LADD syndrome receiving a more accurate clinical diagnosis and genetic counseling by extending the mutation range of the FGF10 gene.

关键词： FGF10 gene frameshift mutation congenital lacrimal duct dysplasia LADD syndrome pedigree

中枢神经元烟碱受体在异氟醚抑制大鼠海马突触长时程增强效应中的作用

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

中华医学杂志 2009年第31期89卷 2206-2209页

作者：冯春生王云麻海春岳云吉林大学白求恩医学部附属第一医院麻醉科长春130021 首都医科大学附属北京朝阳医院麻醉科

目的观察海马内中枢神经元烟碱受体在异氟醚抑制大鼠海马突触长时程增强（LTP）中的作用。方法雄性sD大鼠，断头后取出海马组织，制备厚400μm的海马脑片。取77张脑片，随机分为11组（n=7）：LTP组、异氟醚0．125、0．25、0．5组、烟碱0... 详细信息

目的观察海马内中枢神经元烟碱受体在异氟醚抑制大鼠海马突触长时程增强（LTP）中的作用。方法雄性sD大鼠，断头后取出海马组织，制备厚400μm的海马脑片。取77张脑片，随机分为11组（n=7）：LTP组、异氟醚0．125、0．25、0．5组、烟碱0．1、1．0、10．0组、烟碱1．0＋异氟醚0．25组、烟碱10．0＋异氟醚0．25组、美加明组、美加明＋异氟醚0．125组。各组脑片分别灌流人工脑脊液（ACsF）、异氟醚0．125、0．25、0．5mmol／L、烟碱0．1、1．0、10．0μmol／L、烟碱1．0μmol／L＋异氟醚0．25mmol／L、烟碱10．0μmoL／L＋异氟醚0．25mmol／L、美加明3μmol／L、美加明3μmol／L＋异氟醚0．125mmol／L。采用细胞外微电极记录技术，记录海马脑片CA1区细胞外群体峰电位（Ps）的变化，然后施以100Hz的高频强直刺激（HFs），诱发LTP，观察各组脑片HFs后Ps幅值的变化。结果LTP组HFs后Ps幅值增高，较HFs前增加了（52±12）％（P〈0．01）。与LTP组比较，异氟醚0．125、0．25、0．5组HFs后Ps幅值降低（P〈0．01），烟碱0．1组HFs后Ps幅值差异无统计学意义（P〉0．05），烟碱1．0、10．0组HFs后Ps幅值增高（P〈0．01）。与异氟醚0．25组比较，烟碱1．0＋异氟醚0．25组和烟碱10．0＋异氟醚0．25组HFs后Ps幅值增高（P〈0．01）。与异氟醚0．125组比较，美加明组HFs后Ps幅值差异无统计学意义（P〉0．05），美加明＋异氟醚0．125组HFs后Ps幅值降低（P〈0．05）。结论吸入麻醉药异氟醚能够抑制海马LTP的形成而影响记忆功能，其作用机制与抑制大鼠海马烟碱型乙酰胆碱受体有关。

关键词：异氟醚烟碱受体海马突触长时程增强

影响结直肠癌肝转移射频消融术后局部肿瘤进展的围手术期变量的单中心回顾性分析

在线全文

学校读者我要写书评

暂无评论

国际医学放射学杂志 2021年第2期44卷 231-232页

作者： K.Han J.H.Kim s.G.Yang s.H.Park H.K.Choi s.Y.chun 余倩倩郭邦俊

摘要在接受射频消融治疗的结直肠癌肝转移病人中,局部肿瘤进展与较差的生存有关。预测局部肿瘤进展可能有助于选择从射频消融治疗获益最多的结直肠癌肝转移病人。

关键词：

Additional risk factors associated with thrombosis and pregnancy morbidity in a unique cohort of antiphospholipid antibody-positive patients

在线全文

同方期刊数据库

学校读者我要写书评

暂无评论

Chinese Medical Journal 2022年第6期135卷 658-664页

作者： chun Li Yu Zuo song Zhang Una E.Makris David R.Karp Zhanguo Li Department of Rheumatology and Immunology Peking University People's HospitalBeijing 100044China Division of Rheumatology Department of Internal MedicineUniversity of MichiganAnn ArborMichiganUSA Division of Biostatistics Department of Clinical SciencesUT Southwestern Medical CenterDallasTXUSA Medical service VA North Texas Health Care SystemDallasTXUSA Division of Rheumatic Disease Department of Internal MedicineThe University of Texas Southwestern Medical CenterDallasTXUSA

Background:Antiphospholipid syndrome(APs)is an autoimmune prothrombotic condition with significant *** objective of this study was to identify additional clinical and epidemiological risks of arterial thrombosis,venous thrombosis,and pregnancy morbidities in a large cohort of persistent antiphospholipid antibodies(aPLs)-positive ***:This was a cross-sectional cohort study of 453 consecutive patients with a documented positive aPL who attended Peking University People's *** 453 patients screened,297 patients had persistent positive *** compared asymptomatic aPL carriers with thrombotic and obstetric APs *** the univariate analysis and multivariable logistic regression were used to evaluate the association between different risk factors and APs clinical *** levels of circulating markers of neutrophil extracellular traps(NETs)(cell-free DNA and citrullinated histone H3[Cit-H3])were assessed and compared among aPL-positive carriers with or without autoimmune disease and APs ***:Additional risk factors associated with arterial thrombosis among aPL-positive carriers included:smoking(odds ratio[OR]=6.137,95%confidence interval[CI]=2.408-15.637,P=0.0001),hypertension(OR=2.368,95%CI=1.249-4.491,P=0.008),and the presence of underlying autoimmune disease(OR=4.401,95%CI=2.387-8.113,Psks associated with venous thrombosis among aPL carriers included:smoking(OR=4.594,95%CI=1.681-12.553,P=0.029)and the presence of underlying autoimmune disease(OR=6.330,95%CI=3.355-11.940,Psence of underlying autoimmune disease(OR=3.301,95%CI=1.407-7.744,P=0.006)is the additional risk,which demonstrated a significant association with APs pregnancy *** circulating levels of cell-free DNA and Cit-H3 were observed among APs patients and aPL patients with autoimmune diseases compared with those aPL carriers without underlying autoimmune ***,control neutrophils that

关键词： Antiphospholipid antibodies Antiphospholipid syndrome Arterial thrombosis Pregnancy risk Venous thrombosis

贵州1例野生株鸡毒支原体的鉴定及其基因组和致病性

在线全文

学校读者我要写书评

暂无评论

经济动物学报 2024年第2期28卷 100-108页

作者：熊艳玲程振涛刘婷刘舜星宋春成虹松朱二鹏单春兰欧德渊贵州大学动物科学学院

为探究贵州1株鸡毒支原体（Mycoplsma gallisepticum, MG）感染雏鸡后对肺部的损伤。以MG的16s rRNA引物对其进行PCR鉴定，将16s rRNA基因蛋白序列与COG,NR,swissprot,TrEMBL等数据库进行比对，得到其功能注释信息。将10只健康的22日龄... 详细信息

为探究贵州1株鸡毒支原体（Mycoplsma gallisepticum, MG）感染雏鸡后对肺部的损伤。以MG的16s rRNA引物对其进行PCR鉴定，将16s rRNA基因蛋白序列与COG,NR,swissprot,TrEMBL等数据库进行比对，得到其功能注释信息。将10只健康的22日龄sPF雏鸡随机均分为对照组和MG感染组，MG感染组胸腔部位皮下注射菌液，对照组雏鸡于相同部位皮下注射等量PBs，连续注射21 d。收集雏鸡肺脏组织标本，观察并记录其临床病理变化，苏木素-伊红（HE）染色观察肺组织病理变化，透射电镜观察肺组织超微病理结构变化。结果表明：扩增到的特异性条带与预期片段大小相符，此野生株与B726-06,B2771-14-1A和B1102-06的同源性达99.9%，系统进化树发现该MG属于软皮体纲（Mollicutes）支原体目（Mycoplasmatales）支原体科（Mycoplasmataceae）支原体属（Mycoplasma），说明此野生株为鸡毒支原体。动物试验发现，该株MG感染雏鸡会导致肺脏出现广泛的炎症细胞浸润，肺房壁增厚，毛细血管充满红细胞的病理变化，并且会导致细胞肿胀，细胞核固缩，形态异常，线粒体肿胀、嵴断裂等超微病理结构变化，说明该株MG对雏鸡有较强的致病性。对贵州野生株MG的鉴定，基因组和致病性分析，丰富了我国地方禽源支原体种类，以期为支原体病的防控提供依据。

关键词：鸡毒支原体肺损伤基因组致病性