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孕前扩展性单基因病携带者筛查的临床应用研究 被引量:7
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作者 赵琼珍 康苏 +3 位作者 张兆肖 刘若男 袁琳琳 黄卫东 《生殖医学杂志》 CAS 2021年第6期756-760,共5页
目的探讨孕前扩展性单基因病携带者筛查(PECS)的临床应用价值。方法回顾性分析2019年11月至2020年5月于新疆佳音医院辅助生殖治疗前行PECS的不孕不育夫妇的临床资料,对其单基因病携带率、筛出致病基因种类、夫妻双方携带同一致病变异的... 目的探讨孕前扩展性单基因病携带者筛查(PECS)的临床应用价值。方法回顾性分析2019年11月至2020年5月于新疆佳音医院辅助生殖治疗前行PECS的不孕不育夫妇的临床资料,对其单基因病携带率、筛出致病基因种类、夫妻双方携带同一致病变异的发生率及不同民族的携带率和携带致病基因种类进行总结分析。结果共有1777例不孕不育症患者接受了PECS,包括812对夫妇双方同时接受筛查,涵盖15个民族,以汉族人群为主(1103,62.07%)。致病基因在入组人群中总携带率为18.23%,致病基因携带率最高的两种遗传病为血色素沉着症1型(3.88%)和常染色体隐性耳聋1A型(3.38%)。汉族人群中致病基因携带率最高的遗传病为常染色体隐性耳聋1A型(3.81%),维吾尔族人群中致病基因携带率最高的遗传病为血色素沉着症1型(6.80%)。研究检出致病变异共240种,居于前3位的变异分别是HFE基因、GJB2基因和UGT1A1基因。共检出46对高风险夫妇(5.67%,46/812),进行遗传咨询后其中13对(28.26%,13/46)选择胚胎植入前单基因病遗传检测(PGT-M)。结论在进行生殖治疗之前,建议基于孟德尔疾病的地区性流行及严重程度,考虑进行携带者筛查和遗传咨询。 展开更多
关键词 孕前扩展性单基因病携带者筛查 胚胎植入前单基因病遗传检测 产前诊断 单基因遗传病 基因突变
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孕前及孕早期行单基因病携带者筛查的应用价值
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作者 谢信星 骆福裕 +5 位作者 赖贵华 沈世春 李丽丽 陈俊坤 黄俊高 甘锦绘 《中国当代医药》 CAS 2023年第10期74-77,共4页
目的探究单基因病携带者筛查在孕前及孕早期中的应用,为后期临床工作提供经验总结,以期降低单基因病出生缺陷率。方法筛选2021年7月至2022年3月到赣州市妇幼保健院行单基因病携带者筛查的96例女性,均行单基因病携带者筛查,统计孕前及孕... 目的探究单基因病携带者筛查在孕前及孕早期中的应用,为后期临床工作提供经验总结,以期降低单基因病出生缺陷率。方法筛选2021年7月至2022年3月到赣州市妇幼保健院行单基因病携带者筛查的96例女性,均行单基因病携带者筛查,统计孕前及孕早期致病基因携带率及主要基因变异检出情况。结果96例受检女性致病基因携带率达到28.13%(27/96),其中孕早期致病基因携带率25.93%(21/81),基因均不同,单基因病携带筛查检测结果的灵敏度为100%。结论单基因病携带者筛查在孕前及孕早期中应用效果显著,可进一步临床推广。 展开更多
关键词 单基因病携带者筛查 孕前 孕早期 携带率 基因
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血清肝纤维化指标及铜生化检测对Wilson病携带者诊断意义
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作者 年娜 陈林 +3 位作者 朱凌 方明娟 许亚运 程楠 《安徽医专学报》 2023年第6期82-84,共3页
目的:通过对Wilson病(WD)患者、携带者及正常人的肝纤维化指标[透明质酸(HA)、层粘连蛋白(LN)、四型胶原(IV/C)]及血清铜生化[血清铜(Cu)、铜氧化酶(Sco)和铜蓝蛋白(CP)]水平的研究,探讨血清肝纤维化及铜生化指标检测对WD患者及携带者... 目的:通过对Wilson病(WD)患者、携带者及正常人的肝纤维化指标[透明质酸(HA)、层粘连蛋白(LN)、四型胶原(IV/C)]及血清铜生化[血清铜(Cu)、铜氧化酶(Sco)和铜蓝蛋白(CP)]水平的研究,探讨血清肝纤维化及铜生化指标检测对WD患者及携带者诊断意义。方法:回顾性分析73例WD患者、85例WD携带者及63例正常人的肝纤维化及血清铜生化指标水平,并进行对比。结果:LN、IV/C在WD患者组、携带者组与健康人组之间多重比较,差异均有统计学意义(P<0.01),HA在WD患者组与携带者组之间差异无统计学意义(P>0.05),而在健康人组与WD患者组及携带者组之间差异均有统计学意义(P<0.01)。血清Cu、CP在WD患者组、携带者组与健康人组之间多重比较,差异均有统计学意义(P<0.01),血清Sco在携带者组与健康人组之间差异无统计学意义(P>0.05),而在WD患者组与携带者组及健康人组之间差异均有统计学意义(P<0.01)。结论:WD患者血清铜生化指标均明显下降;WD携带者血清肝纤维化及铜生化水平多界于WD患者与健康人之间;大多数WD携带者血清Cu和CP水平与临界值接近。血清肝纤维化及铜生化指标对WD及其携带者的鉴别诊断有一定的指导意义。 展开更多
关键词 血清肝纤维化指标 血清铜生化 WILSON 病携带者
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孕前和孕早期155种单基因病扩展型携带者筛查的应用研究
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作者 谢晓媛 李阔韬 +3 位作者 吴芳 张钰 王蕾棽 刘霞 《中国优生与遗传杂志》 2023年第11期2253-2257,共5页
目的探讨妊娠前和妊娠早期155种单基因疾病携带者筛查(ECS)的临床应用价值。方法回顾性分析2019年12月至2022年6月,在天津市妇女儿童保健中心遗传和优生门诊进行孕前检查和产前检查夫妇的临床资料,总结分析其隐性单基因病携带率、致病... 目的探讨妊娠前和妊娠早期155种单基因疾病携带者筛查(ECS)的临床应用价值。方法回顾性分析2019年12月至2022年6月,在天津市妇女儿童保健中心遗传和优生门诊进行孕前检查和产前检查夫妇的临床资料,总结分析其隐性单基因病携带率、致病基因种类筛选、夫妻双方具有相同基因变异的发生率。结果包括182对夫妇共415人同时接受筛查,统计有6个民族在内,以汉族人群为主(357,86%)。基因变异在入组人群中共携带33.73%,变异基因携带率最高的两个遗传病分别为常染色体隐性遗传耳聋1A型(GJB2基因)携带率为5.30%(22/415)和苯丙酮尿症(PAH基因)携带率为4.58%(19/415)。研究共发现了55种致病突变,前五名的突变基因分别是GJB2、PAH、ATP7B、HBA1/HBA2和MMACHC,检测出4对高危夫妇(2.20%,4/182),经遗传咨询后,其中1对(25%,1/4)选择了胚胎移植前基因病遗传检测(PGT-M)。结论在孕前和孕早期通过单基因疾病携带者筛查可及时发现致病变异携带情况,通过遗传咨询、产前检查或诊断、辅助生殖技术等可有效预防部分单基因遗传病的首次发生。 展开更多
关键词 孕前扩展性单基因病携带者筛查 产前诊断 单基因遗传病 基因突变
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儿童乙型病毒性肝炎病毒携带者血清新蝶呤水平分析 被引量:5
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作者 余坚 陈俐丽 +1 位作者 温怀凯 谢奇朋 《疾病监测》 CAS 2010年第12期976-977,共2页
目的研究儿童乙型病毒性肝炎病毒(HBV)携带者血清新蝶呤水平变化及其与HBV复制的关系。方法采用酶联免疫吸附试验(ELISA)法和实时荧光定量PCR法分别检测150例儿童HBV携带者和60名健康儿童的血清新蝶呤水平、HBV DNA载量。结果慢性HBV携... 目的研究儿童乙型病毒性肝炎病毒(HBV)携带者血清新蝶呤水平变化及其与HBV复制的关系。方法采用酶联免疫吸附试验(ELISA)法和实时荧光定量PCR法分别检测150例儿童HBV携带者和60名健康儿童的血清新蝶呤水平、HBV DNA载量。结果慢性HBV携带者血清新蝶呤水平明显高于非活动性HBsAg携带者和健康儿童,差异有统计学意义(均P<0.05);非活动性HBsAg携带者和健康儿童的血清新蝶呤水平差异无统计学意义(P>0.05);血清新蝶呤水平与HBV DNA载量在统计学上无显著相关性(r=0.131,P>0.05)。结论在儿童HBV携带者中,慢性HBV携带者比非活动性HBsAg携带者体内更容易引起细胞免疫激活,慢性HBV携带者在随访监测中更应被关注,其血清新蝶呤水平升高能提示病毒复制,但不反映病毒复制活跃程度。 展开更多
关键词 儿童 乙型病毒性肝炎病毒携带者 新蝶呤 乙型病毒性肝炎病毒DNA
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Prevalence of hepatitis B and C markers among refugees in Athens 被引量:12
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作者 Anastasios Roussos Constantin Goritsas +3 位作者 Thomas Pappas Maria Spanaki Panagiota Papadaki Angeliki Ferti 《World Journal of Gastroenterology》 SCIE CAS CSCD 2003年第5期993-995,共3页
AIM: To assess the prevalence of hepatitis B and C serological markers in a population of refugees living in Athens.METHODS: One hundred and thirty refugees (81 males and 49 females, mean age ±SD: 31.7±8 yea... AIM: To assess the prevalence of hepatitis B and C serological markers in a population of refugees living in Athens.METHODS: One hundred and thirty refugees (81 males and 49 females, mean age ±SD: 31.7±8 years) were included in the study. The hepatitis B virus surface antigen (HBsAg),the hepatitis B virus core antibody (anti-HBc) and the hepatitis C virus antibody (anti-HCV) were detected using a third-generation immunoassay.RESULTS: Twenty individuals (15.4%) were HBsAg positive and 69 (53.1%) were anti-HBc positive. The prevalence of HBsAg and anti-HBc was higher among refugees from Albania and Asia (statistical significant difference, P<0.008 and P<0.001 respectively). The prevalence of these markers was found irrelevant to age or sex. Anti-HCV was detected in the serum of 3 individuals (2.3 %). No differences among age, sex or ethnicity regarding anti-HCV prevalence were found.CONCLUSION: It can be concluded that refugees living in Athens are an immigrant population characterized by a high incidence of HBV infection. The prevalence of HBV markers is higher among refugees from Albania and Asia. It is therefore believed that the adherence to general precautions and the initiation of HBV vaccination programs will be necessary in the future, especially in these communities.Although the prevalence of HCV infection seems to be relatively low, extended epidemiological surveys are needed to provide valid results. 展开更多
关键词 Refugees ADOLESCENT ADULT Aged Albania Asia Biological Markers FEMALE Greece Hepatitis B Hepatitis B Antibodies Hepatitis B Surface Antigens Hepatitis C Hepatitis C Antibodies Humans Male Middle Aged Seroepidemiologic Studies
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Is transient elastography a useful tool for screening liver disease? 被引量:5
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作者 Paolo Del Poggio Silvia Colombo 《World Journal of Gastroenterology》 SCIE CAS CSCD 2009年第12期1409-1414,共6页
Transient elastography(TE)is a new non invasive tool for measuring liver stiffness,which is correlated to the histologic stage of liver fibrosis.Several studies in chronic liver disease(CLD)have determined a good accu... Transient elastography(TE)is a new non invasive tool for measuring liver stiffness,which is correlated to the histologic stage of liver fibrosis.Several studies in chronic liver disease(CLD)have determined a good accuracy of TE in predicting significant fibrosis and an optimal accuracy in predicting cirrhosis.Normal liver stiffness ranges between 3.3-7.8 KPa and using a cut off of 7.1 KPa,significant fibrosis and cirrhosis can be excluded with a very high negative predictive value(NPV).Positive predictive value(PPV)for the diagnosis of cirrhosis is lower using just a single scan but increases to 90% if high stiffness values are confirmed by a second independent scan.However the presence of fatty liver and metabolic syndrome slightly increases the readings and may reduce the accuracy of the test.It is uncertain if this increase is related to the presence of steatofibrosis or ifit is caused by steatosis itself.TE can be used in screening patients attending the liver clinics to identify those with signifi cant fi brosis or cirrhosis and may be particularly useful in discriminating HBV inactive carriers from chronic hepatitis B patients.TE,however,is not reliable in predicting the presence of esophageal varices in cirrhotics.Another potential indication for TE is the systematic screening of populations at high risk for CLD,such as intravenous drug users and alcoholics,but further studies are needed to determine its diagnostic accuracy in these settings. 展开更多
关键词 Transient elastography SCREENING Liverdisease Hepatitis B Hepatitis C Non alcoholic steatohepatitis CIRRHOSIS
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Detecting Factor Ⅺ Deficiency in Holstein Cattle Using PCR Analysis
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作者 张科 王占彬 王清义 《Agricultural Science & Technology》 CAS 2010年第5期109-111,共3页
[Objective] This study established a method to detect Factor Ⅺ by polymerase chain reaction analysis.[Method]A pair of primers was designed and synthesized according to sequences of FⅪ gene in Holstein calves,publis... [Objective] This study established a method to detect Factor Ⅺ by polymerase chain reaction analysis.[Method]A pair of primers was designed and synthesized according to sequences of FⅪ gene in Holstein calves,published in Genbank. Polymerase chain reaction was used to analyze FⅪ deficiency of 576 Holstein calves in Henan,and the result was verified by DNA sequencing. [Result] We detect 576 cows,which include two carriers and one F Ⅺ deficiency,and the result was consistent with the DNA sequencing. The frequency of the FⅪ mutant allele was 0.3%,the carrier was 0.3%,the prevalence was 0.2%.[Conclusion]A method detecting FⅪ by polymerase chain reaction analysis was established. This method is not only simple and convenient,but also has a high accuracy and low cost,which is more suitable for large-scale FⅪ investigation. 展开更多
关键词 Holstein cattle Factor deficiency PCR detection
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Relationship between hepatitis B virus infection and hepatic metastasis in non-small cell lung cancer
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作者 Fei Gao Lin Jia +2 位作者 Xiaobo Du Yun Wang Jianjun Han 《The Chinese-German Journal of Clinical Oncology》 CAS 2014年第5期212-214,共3页
Objective: The purpose of the study was to explore the relationship between hepatitis B virus(HBV) infection and hepatic metastasis in non-small cell lung cancer(NSCLC). Methods: Four hundred and eighty cases of NSCLC... Objective: The purpose of the study was to explore the relationship between hepatitis B virus(HBV) infection and hepatic metastasis in non-small cell lung cancer(NSCLC). Methods: Four hundred and eighty cases of NSCLC were retrospectively analyzed from January 2003 to January 2010, and the prevalence of hepatic metastasis of NSCLC in patients with and without hepatitis B virus infection were compared. Results: In the HBV carriers' group, the prevalence of synchronous hepatic metastasis and metachronous hepatic metastasis were 13.2% and 5.9%, respectively. Meanwhile in the non-HBV group, those were 21.6% and 9.5% respectively. A significant difference between the two groups was found(P < 0.05). Conclusion: The prevalence of synchronous hepatic metastasis and metachronous hepatic metastasis in non-small cell lung cancer with HBV infection are lower than those in non-HBV infection group. Hepatic metastasis is infrequent in HBV infected cases of NSCLC. 展开更多
关键词 hepatitis B virus (HBV) non-small cell lung cancer (NSCLC) hepatic metastasis
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Preliminary Results of Crayfish Distribution and Diseases in Latvia
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作者 Inese Briede 《Journal of Life Sciences》 2012年第10期1142-1144,共3页
A lot of water reservoirs offer good natural conditions for crayfish breeding. Today there are four crayfish species present in Latvia--the European species noble crayfish (Astacus astacus), narrow-clawed crayfish ... A lot of water reservoirs offer good natural conditions for crayfish breeding. Today there are four crayfish species present in Latvia--the European species noble crayfish (Astacus astacus), narrow-clawed crayfish (Astacus leptodactylus), the North American signal crayfish (Pacifastacus leniusculus) and spiny-cheek crayfish (Orconectes limosus). In general, crayfish were found in 258 localities--lakes (175), rivers and streams (66), reservoirs, ponds and gravel-pits (17). A. astacus in Latvia is the dominant crayfish species distributed in all regions. Narrow-clawed crayfish was registered since 1960s. North American signal crayfish was introduced due to its resistance to diseases, but spiny-cheek crayfish arrived from Lithuania waters spontaneously. The main threat for crayfish population is crayfish plague, initiated by mucus Aphanomyces astaci. Astacus astacus was more susceptible species in comparison with Pacifastacus leniusculus and Orconectes limosus. Though the North American signal crayfish and spiny-cheek crayfish were not only resistant, they were the carriers of this disease. The physical habitat alterations, pollution and overfishing are significant during the first year breeding period. Crayfish might serve as bacteria carriers and can cause substantial fish diseases (such as aeromonosis, flavobacteriosis). 展开更多
关键词 CRAYFISH crayfish plague BACTERIA population.
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Lnc-TCL6 is a potential biomarker for early diagnosis and grade in liver-cirrhosis patients 被引量:4
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作者 Lei-Jia Li Xiao-Ying Wu +8 位作者 Si-Wei Tan Zi-Jun Xie Xue-Mei Pan Shun-Wen Pan Wu-Ri-Na Bai Hai-Jiao Li Hui-Ling Liu Jie Jiang Bin Wu 《Gastroenterology Report》 SCIE EI 2019年第6期434-443,I0002,共11页
Background:Long non-coding RNAs(lncRNAs)have been applied as biomarkers in many diseases.However,scarce biomarkers are available in single lncRNA differential expression associated with different clinical stages of li... Background:Long non-coding RNAs(lncRNAs)have been applied as biomarkers in many diseases.However,scarce biomarkers are available in single lncRNA differential expression associated with different clinical stages of liver cirrhosis(LC).The aim of the study is to identify some lncRNAs that can serve as non-invasive sensitive biomarkers for early diagnosis and grade of LC.Methods:Blood lncRNA expression was evaluated in three independent cohorts with 305 participants including healthy controls,hepatitis B virus(HBV)carriers,and patients with chronic hepatitis B(CHB)or LC.First,candidate lncRNAs were screened by CapitalBiotech microarray to diagnose cirrhosis.Quantitative reverse-transcriptase polymerase chain reaction was then used to investigate the expression of selected lncRNAs in the whole group of cirrhosis and different Child–Pugh classes.Ultimately,the diagnostic accuracy of the promising biomarker was examined and validated via Mann–Whitney test and receiver-operating characteristics analysis.Results:Lnc-TCL6 was identified as a sensitive biomarker for early diagnosis of LC(Child–Pugh A)compared with healthy controls(area under the ROC curve[AUC]=0.636),HBV carriers(AUC=0.671),and CHB patients(AUC=0.672).Furthermore,lnc-TCL6 showed a favourable capacity in discriminating among different Child–Pugh classes(AUC:0.711–0.837).Compared with healthy controls,HBV carriers,and CHB patients,the expression of lnc-TCL6 was obviously up-regulated in Child–Pugh A patients and,conversely,significantly down-regulated in Child–Pugh C patients.Conclusions:Lnc-TCL6 is a novel potential biomarker for early diagnosis of LC and is a possible predictor of disease progression. 展开更多
关键词 long non-coding RNAs Lnc-TCL6 BIOMARKER liver cirrhosis Child–Pugh classification
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