检索结果-南通市图书馆

家系成员中有葡萄胎史的六例葡萄胎患者的家系分析及NLRP7基因突变的评估

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

中华妇产科杂志 2011年第8期46卷 600-604页

作者：李勇程琪钱建华周薇谢幸 rima Slim 浙江大学医学院附属妇产科医院妇产科杭州310006 Human Genetics McGill University Health Centre

目的对家系成员中有葡萄胎史的葡萄胎患者进行家系分析，并评估其NLRP7基因的突变情况。方法选取2003年1月至2010年12月在浙江大学医学院附属妇产科医院及山东枣庄矿业集团中心医院就诊的家系成员中有葡萄胎史的葡萄胎患者6例，进行家... 详细信息

目的对家系成员中有葡萄胎史的葡萄胎患者进行家系分析，并评估其NLRP7基因的突变情况。方法选取2003年1月至2010年12月在浙江大学医学院附属妇产科医院及山东枣庄矿业集团中心医院就诊的家系成员中有葡萄胎史的葡萄胎患者6例，进行家系分析；以2003年1月至2010年12月在浙江大学医学院附属妇产科医院体检的健康妇女60例为对照，抽取葡萄胎患者及其相关家系成员和健康妇女的外周静脉血，提取DNA，采用PCR扩增、测序及序列比对分析，对NLRP7基因突变进行筛选及分析，寻找突变位点及对应的核苷酸变异和蛋白质变异。结果家系成员中有葡萄胎史的6例葡萄胎患者中，3个家系是患者的姐妹有葡萄胎史，其中2个家系（家系MoCh76和Ch77）为家族性复发性葡萄胎，这2个家系中患者的NLRP7基因均存在2个位点的突变，家系MoCh76中患者的突变位点为外显子3、5，对应的核苷酸变异分别为[295G〉T]、[1970A〉T]，蛋白质变异分别为[G1u99X]、[Asp657Val]，家系Ch77中2个反复发生葡萄胎的姐妹的突变位点为外显子4、7，对应的核苷酸变异分别为[1294C〉T]、[2471＋1G〉A]，蛋白质变异分别为[Arg432X]、[Leu825X]；1个家系（家系105）为非家族性复发性葡萄胎，患者未发现NLRP7基因的突变位点及对应的核苷酸变异和蛋白质变异。3个家系是患者的母亲有葡萄胎史，均为非家族性复发性葡萄胎，家系MoCh73的患者存在NLRP7基因单个位点的突变，突变位点为外显子4，对应的核苷酸变异为[1137G〉C]、蛋白质变异为[Lys379Asn]；家系106和110的患者均未发现NLRP7基因的突变位点及对应的核苷酸变异和蛋白质变异。60例健康对照妇女均未发现NLRP7基因的上述突变位点及对应的核苷酸变异和蛋白质变异。结论NLRP7基因突变可能是导致家族性复发性葡萄胎的相关基因。

关键词：葡萄胎系谱衔接蛋白质类,信号转导突变

维普期刊数据库

Synthesis of Electroconducting Hydroxy-Sodalite/Graphite Composite: Preparation and Characterization

在线全文

学校读者我要写书评

暂无评论

Advances in Materials Physics and Chemistry 2019年第3期9卷 25-36页

作者： rima Alomari Muayed Esaifan Mohammed Khair Hourani Hiba Al Amayreh Mohammed Amayreh Hani Khoury Department of Chemistry The University of Jordan Amman Jordan Department of Chemistry Faculty of Arts and Sciences University of Petra Amman Jordan Department of Physics and Basic Science Faculty of Engineering Technology Al-Balqa Applied University Amman Jordan Department of Geology The University of Jordan Amman Jordan

Electroconductive hydroxy-sodalite/graphite composites were synthesized by alkali-activation of kaolinite in the presence of sodium hydroxide as the alkali activator and graphite as a conductive filler. Thermal, morphological and microstructural properties in addition to direct current (D.C.) conductivity of the prepared composites were investigated. Thermogravimetric analysis (TGA), Fourier transform infrared spectroscopy in the attenuated total reflection mode (FTIR/ATR), X-ray diffraction (XRD), scanning electron microscope/energy dispersive using X-ray analysis (SEM/EDX) and DC conductivity measurements were used to characterize the prepared composites. The effect of the hydroxyl-sodalite-to-graphite and NaOH-to-kaolinite ratios on the electrical conductivity was investigated and evaluated on the generated composite specimens made of Jordanian kaolinite or pure kaolinite. It was demonstrated that increasing the mass ratio of graphite-to-kaolinite in the clay-based composites increased the electrical conductivity of the resultant composites. It was also observed that using 1:1 graphite-to-pure kaolinite mass ratio showed the best electrical conductivity value of 3 × 10-3 s/cm, among the other mass ratios used for pure kaolinite specimens, while using 1:1 mass ratio of graphite-to-Jordanian kaolinite showed a conductivity of 1.6 s/cm.

关键词： Kaolinite Graphite Composite Inorganic Polymers Electroconductive Composites

High frequency of the c.3207C>A (p.H1069Q) mutation in ATP7B gene of Lithuanian patients with hepatic presentation of Wilson's disease

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

World Journal of Gastroenterology 2008年第38期14卷 5876-5879页

作者： Laimutis Kucinskas Jolanta Jeroch Astra Vitkauskiene Raimundas Sakalauskas Vitalija Petrenkiene Vaidutis Kucinskas rima Naginiene Hartmut Schmidt Limas Kupcinskas Institute of Biology of Kaunas University of Medicine Mickeviiaus 9 Kaunas LT-44307 Lithuania Institute of Biomedical Research of Kaunas University of Medicine Eiveniu 4 Kaunas LT-50009 Lithuania Laboratory of Immunology and Genetics Kaunas University of Medicine Eiveniu 2 Kaunas LT-50009 Lithuania Department of Pulmonology and Immunology Kaunas University of Medicine Eiveniu 2Kaunas LT-50009 Lithuania Department of Gastroenterology Kaunas University of Medicine Eiveniu 2Kaunas LT-50009 Lithuania Department of Human and Medical Genetics Faculty of Medicine Vilnius University Santariskiu 2Vilnius LT-08661 Lithuania Institute of Biomedical Research of Kaunas University of Medicine Eiveniu 4Kaunas LT-50009 Lithuania Department of Hepatotransplanthology University of Munster Schlossplatz 2Munster D-48149 Germany Department of Gastroenterology Kaunas University of Medicine Eiveniu 2 Kaunas LT-50009 Lithuania

AIM： To investigate the prevalence of the ATP7B gene mutation in patients with hepatic presentation of Wilson＇s disease （WD） in Lithuania. METHODS： Eleven unrelated Lithuanian families, including 13 WD patients were tested. Clinically WD diagnosis was established in accordance to the Leipzig scoring system. Genomic DNA was extracted from whole venous blood using a salt precipitation method. Firstly, the semi-nested polymerase chain reaction （PCR） technique was used to detect the c.3207C〉A （p.H1069Q） mutation. Patients not homozygous for the c.3207C〉A （p.H1069Q） mutation were further analyzed. The 21 exons of the WD gene were amplified in a thermal cycler （Biometra T3 Thermocycler, G0ttingen, Germany）. Direct sequencing of the amplified PCR products was performed by cycle sequencing using fluorescent dye terminators in an automatic sequencer （Applied Biosystems, Darmstadt, Germany）. RESULTS： Total of 13 WD patients （mean age 26.4 years; range 17-40; male/female 3/10） presented with hepatic disorders and 16 their first degree relatives （including 12 siblings） were studied. Some of WD patients, in addition to hepatic symptoms, have had extrahepatic disorders （hemolytic anemia 3; Fanconi syndrome 1; neurophsychiatric and behavioural disorder 2）. Liver biopsy specimens were available in all of 13 WD patients （8 had cirrhosis; 1-chronic hepatitis; 3-acute liver failure, 1-1iver steatosis）. Twelve of 13 （92.3%） WD patients had the c.3207C〉A （***069Q） mutation, 6 of them in both chromosomes, 6 were presented as compound heterozygotes with additional c.3472-82delGGTTTAACCAT, c.3402delC, c.3121C〉T （***041W） or unknown mutations. For one patient with liver cirrhosis and psychiatric disorder （Leipzig score 6）, no mutations were found. Out of 16 first degree WD relatives, 11 （68.7%） were heterozygous for the c.3207C〉A （p.H1069Q） mutation. Two patients with fulminant WD died from acute liver failure and ii are in full remission under peniciilamine or zinc acetate treatment. Thr

关键词： Wilson disease ATP7B gene c.3207C〉A(p.H1069Q) mutation Cirrhosis Urine copper Copper in liver biopsies

Effect of Antibiotic Consumption on Resistance of <i>Pseudomonas aeruginosa</i>Isolated from Lebanese Patients with Emphasis on MBL Production

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Advances in Microbiology 2013年第4期3卷 382-388页

作者： rima Mouawad Claude Afif Eid Azar Elias Dahdouh Khalil Masri Jihad Irani Ziad Daoud MICROB Unit Faculty of Medicine and Medical Sciences University of Balamand El-Koura Lebanon

The relationship between antibiotic consumption and resistance has been widely evaluated. Pseudomonas aeruginosa is one of the most important opportunistic pathogens in the nosocomial setting, and its resistance to antibiotics is increaseing. Production of metallo-β-lactamases (MBLs) is currently the most fearful resistance mechanism due to the potential of dissemination. This study aimed to evaluate the correlation between antibiotic consumption (expressed in DDD/100 bed days) and resistance (expressed in % of isolates and patients) in different time periods for P. aeruginosa between 2006 and 2009 at Saint George Hospital University Medical Center (SGH-UMC), Beirut. Pearson correlation coefficients (r) were calculated and linear regression was performed. Detection of MBL-producing Imipenem resistant P. aeruginosa (IRPA) isolates between 2008 and 2009 was performed using three MBL screening methods: MBL Etest?, Imipenem/EDTA combined disk test and EDTA disk potentiation with four cephalosporins. The modified Hodge test was also performed. From 2006 till 2009, there was a trend of increasing resistance of P. aeruginosa to all antibiotics, and the highest % of resistance was for Ofloxacin. Concerning resistance expressed by isolates, high correlation coefficients resulted among Imipenem, Ciprofloxacin and Tazobactam consumption and resistance to these agents in the same year correlation;Ceftazidime and Ofloxacin consumption and resistance in the next year correlation;Gentamicin and Ofloxacin consumption and the change in resistance (ΔR). Concerning resistance expressed by patients, results were similar except for Ceftazidime and Ofloxacin correlation in the next year correlation. In MBL screening, three isolates gave accordance among 4 methods which showed a positive result. The correlation between antibiotic consumption and resistance is highly dependent on the kind of antibiotic, the organism and the time of correlation. Various MBL screening phenotypic methods on o

关键词： Pseudomonas aeruginosa MBL Antibiotic Consumption Bacterial Resistance

Influence of Substrate Quality and Moisture Availability on Microbial Communities and Litter Decomposition

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Open Journal of Ecology 2014年第8期4卷 421-433页

作者： David J. Berrier Morgan S. Rawls Shannon Leigh McCallister rima B. Franklin Department of Biology Virginia Commonwealth University Richmond USA

The main source of carbon (C) to soil stocks is plant litter, the decomposition of which is controlled by a mixture of physical, chemical, and biological processes. Bacteria and fungi are the dominant biota responsible for decomposition, yet we know very little about their respective contributions or how community dynamics may be affected by litter quality. This study sought to gain a better understanding of the variable relationships between organic matter decomposition, litter quality, and microbial community composition, with a specific focus on distinguishing bacterial and fungal dynamics. Experiments were conducted under contrasting hydrological conditions, comparing a wetland with an upland forest environment. Decomposition of native vegetation was monitored in addition to breakdown of a common substrate (Acer rubrum (red maple) leaves) placed in both environments. In situ incubations lasted 16 months, and were sampled at ~3-month intervals. Regardless of site, maple litter decomposition proceeded at a similar rate, though we did observe differences in litter quality over time (C:N, %N, solubility of organic C). For the upland site, native litter decomposed more slowly than the maple did. At the wetland site, both litter types decomposed at a similar rate which, surprisingly, was faster than either litter type at the upland site. This finding could be attributed to water-limitation at the upland site and/or stimulation of decomposition at the wetland site due to allochthonous nutrient inputs or organic matter priming. Substrate induced respiration (SIR) was measured for native litter incubated at each sampling site, and the relative contributions of bacteria and fungi were compared. No consistent major differences were detected across these microbial groups, though we did observe much higher rates of SIR at the wetland site compared to the upland site. Community structure of each microbial group was examined via terminal restriction fragment length polymorphis

关键词： Fungi Bacteria Decomposition Wetland Marsh Soil Moisture

浅黄根须腹菌磷酸盐转运蛋白基因克隆及表达分析

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

分子植物育种 2017年第6期15卷 2179-2186页

作者：宝日玛峥嵘白淑兰内蒙古师范大学生命科学与技术学院呼和浩特010022 内蒙古农业大学林学院呼和浩特010019

研究以油松(Pinus tabulaeformis)的优良外生菌根真菌-浅黄根须腹菌(Rhizopogon luteolus)菌丝体为对象,采用简并PCR和末端克隆技术分离了其磷酸盐转运蛋白基因(RlPT),所分离的RlPT cDNA全长序列2017 bp,包含一个1 653 bp的开放阅读框(o... 详细信息

研究以油松(Pinus tabulaeformis)的优良外生菌根真菌-浅黄根须腹菌(Rhizopogon luteolus)菌丝体为对象,采用简并PCR和末端克隆技术分离了其磷酸盐转运蛋白基因(RlPT),所分离的RlPT cDNA全长序列2017 bp,包含一个1 653 bp的开放阅读框(open reading frame,ORF),编码550个氨基酸;基因组DNA长度约为2 324 bp,包含11外显子和10个内含子,保守结构域搜索显示属于MFS超基因家族。结果表明:蛋白序列的系统进化树显示与浅黄根须腹菌(Rhizopogon luteolus)的磷酸盐转运蛋白的亲缘关系最近。qPCR分析显示在磷饥饿时,该基因表达显著提高。

关键词：浅黄根须腹菌磷酸盐转运蛋白克隆

维普期刊数据库

ChatGPT: An Evaluation of AI-Generated Responses to Commonly Asked Pregnancy Questions

在线全文

学校读者我要写书评

暂无评论

Open Journal of Obstetrics and Gynecology 2023年第9期13卷 1528-1546页

作者： Christopher Wan Angelo Cadiente Keren Khromchenko Natalie Friedricks rima A. Rana Jonathan D. Baum Department of Obstetrics and Gynecology Jersey Shore University Medical Center Neptune NJ USA

Background: A recent assessment of ChatGPT on a variety of obstetric and gynecologic topics was very encouraging. However, its ability to respond to commonly asked pregnancy questions is unknown. Reference verification needs to be examined as well. Purpose: To evaluate ChatGPT as a source of information for commonly asked pregnancy questions and to verify the references it provides. Methods: Qualitative analysis of ChatGPT was performed. We queried ChatGPT Version 3.5 on 12 commonly asked pregnancy questions and asked for its references. Query responses were graded as “acceptable” or “not acceptable” based on correctness and completeness in comparison to American College of Obstetricians and Gynecologists (ACOG) publications, PubMed-indexed evidence, and clinical experience. References were classified as “verified”, “broken”, “irrelevant”, “non-existent” or “no references”. Review and grading of responses and references were performed by the co-authors individually and then as a group to formulate a consensus. Results: In our assessment, a grade of acceptable was given to 50% of responses (6 out of 12 questions). A grade of not acceptable was assigned to the remaining 50% of responses (5 were incomplete and 1 was incorrect). In regard to references, 58% (7 out of 12) had deficiencies (5 had no references, 1 had a broken reference, and 1 non-existent reference was provided). Conclusion: Our evaluation of ChatGPT confirms prior concerns regarding both content and references. While AI has enormous potential, it must be carefully evaluated before being accepted as accurate and reliable for this purpose.

关键词： AI (Artificial Intelligence) ChatGPT Pregnancy

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

让推荐信“报废”吧!

科学新闻 2017年第9期 88-89页

作者： rima Wilkes 姜天海加拿大温哥华英属哥伦比亚大学

每年,本科生在申请硕士和博士项目、法学院、社会工作、建筑学和医学项目时,我都会为他们写推荐信。我给他们写信,帮他们赢得奖项、实习机会,以及海外留学项目。我为研究生写信,帮他们争取奖学金、博士后工作,以及终身教职制的岗位。我... 详细信息

每年,本科生在申请硕士和博士项目、法学院、社会工作、建筑学和医学项目时,我都会为他们写推荐信。我给他们写信,帮他们赢得奖项、实习机会,以及海外留学项目。我为研究生写信,帮他们争取奖学金、博士后工作,以及终身教职制的岗位。我为教职工写信,他们要去申请奖项,还要去争取终身教职岗位和晋升评价。一言以蔽之,我耗费了很多时间去写信。可能我该为此而感觉良好——毕竟我在帮助很多人实现他们的梦想,但我没有。并不是我不希望自己写推

关键词：委员会推荐者

Implications of Cytogenetic Abnormalities and Azoospermia Factor Microdeletions in Assisted Procreation

在线全文

同方期刊数据库

学校读者我要写书评

暂无评论

Journal of Reproduction and Contraception 2007年第3期18卷 231-235页

作者： rima Dada R Kumar M Bilal Shamsi Sarabpreet Singh Col R K Sharma A Varshney Laboratory of Molecular Reproduction and Genetics Department of AnatomyAIIMS N Delhi 110029 India Anatomy Department AIIMSN Delhi 110029 India ART centre Obstretics and Gynaecology Department Army Research and Referral hospitalNew Delhi India AIIMS N Delhi 110029 India

Assisted procreation techniques have revolutionized the management of infertility and have offered hope to millions of infertile couples. The main aim of these procedures is to produce healthy offspring. However recent studies on short term outcome of ART have reported a higher incidence of low birth weight, development delay, imprinting defects, sex and autosomal structural abnormalities, major and minor congenital malformation and certain cancers in babies conceived via ART. Further the health of ART conceived children beyond the neonatal period have been less well evaluated. A large number of infertile couples opting for ART have an underlying genetic aetiology. These genetic aberrations are iatrogenitically transmitted via ART. Thus it is important that all couples undergo a detailed and comprehensive genetic evaluation prior to ART.

关键词： genetics chromosomal abnormality AZF Yq microdeletion assisted reproduction ART

维普期刊数据库