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Non-invasive Prenatal Gene Diagnosis: Progress through Cell-free Fetal DNA and RNA in Maternal Plasma and Urine
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作者 GUO Xun-yang, GUO Yi-bin ( Department of Medical Genetics, Zhongshan School of Medicine, SUN Yat-Sen University, Guangzhou 510080, China ) 《中山大学学报(医学科学版)》 CAS CSCD 北大核心 2008年第S2期140-142,共3页
Non-invasive prenatal gene diagnosis has been developed rapidly in the recent years, and numerous medical researchers are focusing on it. Such techniques could not only achieve prenatal diagnosis accurately, but also ... Non-invasive prenatal gene diagnosis has been developed rapidly in the recent years, and numerous medical researchers are focusing on it. Such techniques could not only achieve prenatal diagnosis accurately, but also prevent tangential illness in fetuses and thus, reduce the incidence of diseases. Moreover, it is non-invasive prenatal gene diagnosis that prevents potential threaten and danger to both mothers and fetuses. Therefore, it is welcomed by clinical gynecologist and obstetrian, researchers of medical genetics, and especially, pregnancies. This review article touches briefly on the advanced development of using cell-free DNA, RNA in maternal plasma and urine for non-invasive prenatal gene diagnosis. 展开更多
关键词 non-invasive prenatal gene diagnosis CELL-FREE fetal DNA and RNA DNA and RNA detection MATERNAL urine MATERNAL plasma
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Non-invasive diagnosis of gastric mucosal atrophy in an asymptomatic population with high prevalence of gastric cancer 被引量:14
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作者 Antonio Rollan Catterina Ferreccio +3 位作者 Alessandra Gederlini Carolina Serrano Javiera Torres Paul Harris 《World Journal of Gastroenterology》 SCIE CAS CSCD 2006年第44期7172-7178,共7页
AIM: To validate a non-invasive method to detect gastric mucosal atrophy in a Chilean population with high prevalence of gastric cancer and a poor survival rate. METHODS: We first determined the optimal cut-off level ... AIM: To validate a non-invasive method to detect gastric mucosal atrophy in a Chilean population with high prevalence of gastric cancer and a poor survival rate. METHODS: We first determined the optimal cut-off level of serum pepsinogen (PG)-1, PG-1/PG-2 ratio and 17-gastrin in 31 voluntary symptomatic patients (mean age: 66.1 years), of them 61% had histologically confirmed gastric atrophy. Then, in a population-based sample of 536 healthy individuals (209 residents in counties with higher relative risk and 327 residents in counties with lower relative risk for gastric cancer), we measured serum anti-H pylori antibodies, PG and 17-gastrin and estimated their risk of gastric cancer. RESULTS: We found that serum PG-1 < 61.5 μg/L, PG-1/PG-2 ratio < 2.2 and 17-gastrin > 13.3 pmol/L had a high specificity (91%-100%) and a fair sensitivity (56%-78%) to detect corpus-predominant atrophy. Based on low serum PG-1 and PG-1/PG-2 ratio together as diagnostic criteria, 12.5% of the asymptomatic subjects had corpus-predominant atrophy (0% of those under 25 years and 20.2% over 65 years old). The frequency of gastric atrophy was similar (12% vs 13%) but H pylori infection rate was slightly higher (77% vs 71%) in the high-risk compared to the low-risk counties. Based on their estimated gastric cancer risk, individuals were classified as: low-risk group (no H pylori infection and no atrophy; n = 115; 21.4%); moderate-risk group(H pylori infection but no atrophy; n = 354, 66.0%); and high-risk group (gastric atrophy, with or without H pylori infection; n = 67, 12.5%). The high-risk group was significantly older (mean age: 61.9 ± 13.3 years), more frequently men and less educated as compared with the low-risk group. CONCLUSION: We propose to concentrate on an upper gastrointestinal endoscopy for detection of early gastric cancer in the high-risk group. This intervention model could improve the poor prognosis of gastric cancer in Chile. 展开更多
关键词 胃癌 幽门螺杆菌 胃萎缩 非入侵诊断
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Non-invasive Prenatal Diagnosis of Trisomy 21 by Dosage Ratio of Fetal Chromosome-specific Epigenetic Markers in Maternal Plasma 被引量:4
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作者 张铭 李涛 +5 位作者 陈静怡 李莉 周春 王燕 刘文惠 张元珍 《Journal of Huazhong University of Science and Technology(Medical Sciences)》 SCIE CAS 2011年第5期687-692,共6页
This study examined the methylation difference in AIRE and RASSF1A between maternal and placental DNA, and the implication of this difference in the identification of free fetal DNA in maternal plasma and in prenatal ... This study examined the methylation difference in AIRE and RASSF1A between maternal and placental DNA, and the implication of this difference in the identification of free fetal DNA in maternal plasma and in prenatal diagnosis of trisomy 21. Maternal plasma samples were collected from 388 singleton pregnancies, and placental or chorionic villus tissues from 112 of them. Methylation-specific PCR (MSP) and methylation-sensitive restriction enzyme digestion followed by fluorescent quantitative PCR (MSRE + PCR) were employed to detect the maternal-fetal methylation difference in AIRE and RASSF1A. Diagnosis of trisomy 21 was established according to the ratio of fetal-specific AIRE to RASSF1A in maternal plasma. Both methods confirmed that AIRE and RASSF1A were hypomethylated in maternal blood cells but hypermethylated in placental or chorionic villus tissues. Moreover, the differential methylation for each locus could be seen during the whole pregnant period. The positive rates of fetal AIRE and RASSF1A in maternal plasma were found to be 78.1% and 82.1% by MSP and 94.8% and 96.9% by MSRE + PCR. MSRE + PCR was superior to MSP in the identification of fetal-specific hypermethylated sequences (P〈0.05). Based on the data from 266 euploidy pregnancies, the 95% reference interval of the fetal AIRE/RASSF1A ratio in maternal plasma was 0.33-1.77, which was taken as the reference value for determining the numbers of fetal chromosome 21 in 102 pregnancies. The accu-racy rate in 98 euploidy pregnancies was 96.9% (95/98). Three of the four trisomy 21 pregnancies were confirmed with this method. It was concluded that hypermethylated AIRE and RASSF1A may serve as fetal-specific markers for the identification of fetal DNA in maternal plasma and may be used for noninvasive prenatal diagnosis of trisomy 21. 展开更多
关键词 fetal DNA differential methylation AIRE RASSF1A non-invasive prenatal diagnosis
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Enrichment of Fetal Nucleated Red Blood Cells by Multi-core Magnetic Composite Particles for Non-invasive Prenatal Diagnosis 被引量:1
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作者 PAN Ying WANG Qing +7 位作者 HUANG Wen-jun QIAO Feng-1i LIU Yu-ping ZHANG Yu-cheng HAI De-yang DU Ying,ting WANG Wen-yue ZHANG Ai-chen 《Chemical Research in Chinese Universities》 SCIE CAS CSCD 2012年第3期443-448,共6页
A novel kind of multi-core magnetic composite particles, the surfaces of which were respectively mo- dified with goat-anti-mouse IgG and antitransferrin receptor(anti-CD71), was prepared. The fetal nucleated red blo... A novel kind of multi-core magnetic composite particles, the surfaces of which were respectively mo- dified with goat-anti-mouse IgG and antitransferrin receptor(anti-CD71), was prepared. The fetal nucleated red blood cells(FNRBCs) in the peripheral blood of a gravida were rapidly and effectively enriched and separated by the mo- dified multi-core magnetic composite particles in an external magnetic field. The obtained FNRBCs were used for the identification of the fetal sex by means of fluorescence in situ hybridization(FISH) technique. The results demonstrate that the multi-core magnetic composite particles meet the requirements for the enrichment and speration of FNRBCs with a low concentration and the accuracy of detetion for the diagnosis of fetal sex reached to 95%. Moreover, the obtained FNRBCs were applied to the non-invasive diagnosis of Down syndrome and chromosome 3p21 was de- tected. The above facts indicate that the novel multi-core magnetic composite particles-based method is simple, relia- ble and cost-effective and has opened up vast vistas for the potential application in clinic non-invasive prenatal diag- nosis. 展开更多
关键词 Fetal nucleated red blood cell(FNRBC) Prenatal diagnosis non-invasive Multi-core magnetic compositeparticle
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Non-Invasive Evaluation and Differential Diagnosis for Pediatric Leukoderma in a Single Institute 被引量:1
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作者 Madoka Takafuji Atsushi Tanemura +4 位作者 Yuma Hanaoka Noriko Arase Eiji Kiyohara Ichiro Katayama Manabu Fujimoto 《Journal of Cosmetics, Dermatological Sciences and Applications》 2019年第4期313-320,共8页
Background: Although vitiligo shows a similar clinical picture to other disorders in which patients exhibit depigmented spots, there are few reports on the differentiation of these conditions from each other. Purpose:... Background: Although vitiligo shows a similar clinical picture to other disorders in which patients exhibit depigmented spots, there are few reports on the differentiation of these conditions from each other. Purpose: We aimed to investigate the differences and similarities between vitiligo and nevus depigmentosus in children based on the clinical course and characteristics. Materials and Methods: We conducted an examination of the disease type, treatment, progress, and differentiation of 85 cases of vitiligo and nevus depigmentosus that developed before 15 years of age among patients who visited the Osaka University Department of Dermatology with a chief complaint of white patches from January 2010 to March 2017. Results: The median age at the onset of symptoms of 79 patients with vitiligo was 4.5 years and while that of 6 patients with nevus depigmentosus was 0.8 years, indicating that the onset of nevus depigmentosus occurred earlier. While vitiligo often developed in the head and neck regions, with a tendency for depigmented spots in multiple regions, nevus depigmentosus did not show this tendency in these regions. Upon performing Wood’s lamp observation in 38 cases of vitiligo, 35 cases were found to be fluorescent chalky white and in 3 cases histologically diagnosed as vitiligo, no clear fluorescent color was observed. All 6 patients diagnosed with nevus depigmentosus exhibited a non-fluorescent off-white color under a Wood’s lamp. Conclusions: This study indicates that non-invasive observation using a Wood’s lamp is useful in the differential diagnosis of pediatric leukoderma, in addition to the subsequent clinical course, such as the presence or absence of lesional repigmentation and/or enlargement. 展开更多
关键词 PEDIATRIC Leukoderma VITILIGO NEVUS Depigmentosus non-invasive diagnosis Wood’s Lamp
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High Sensitive Graphene Devices for Non-Invasive Early Diagnosis of Hyperthyroidism: A Feasibility Study
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作者 Avinash Yadav Inayeth Ali +1 位作者 Ahdy Helmy Maher Rizkalla 《Journal of Biomedical Science and Engineering》 2019年第12期522-532,共11页
This paper presents a novel approach with Graphene devices that are highly sensitive in detecting IR energy. Current non-imaging techniques like ultrasonography have been proposed for thyroid diagnosis with limitation... This paper presents a novel approach with Graphene devices that are highly sensitive in detecting IR energy. Current non-imaging techniques like ultrasonography have been proposed for thyroid diagnosis with limitations on ability to detect low-temperature distribution around the hot spot at the starting stage of the thyroid hyperthyroidism. The energy distribution around hotspot is minimal at the beginning stage. This detection may require ultra-high sensitive materials to the IR energy. A computer modeling using COMSOL software shows the thermal energy simulation of a thyroid gland with single or multiple active nodules. Data collection of the energy levels and condition of thyroid in the human body support the work investigated in this study. The study conducted here has shown as low as 0.1 - 5 mW IR power can be detected based on the Graphene device sensitivity. The paper details the simulation and approach for this non-invasive diagnosis. 展开更多
关键词 diagnosis non-invasive GNRFET THERMOGRAPHY ULTRASONOGRAPHY IoT
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Non invasive evaluation of liver fibrosis in paediatric patients with nonalcoholic steatohepatitis 被引量:5
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作者 Angelo Iacobellis Matilde Marcellini +4 位作者 Angelo Andriulli Francesco Perri Gioacchino Leandro Rita Devito Valerio Nobili 《World Journal of Gastroenterology》 SCIE CAS CSCD 2006年第48期7821-7825,共5页
AIM: To identify the independent predictors of hepatic fibrosis in 69 children with nonalcoholic steatohepatitis (NASH) due to nonalcoholic fatty liver disease (NAFLD). METHODS: All patients with clinically suspected ... AIM: To identify the independent predictors of hepatic fibrosis in 69 children with nonalcoholic steatohepatitis (NASH) due to nonalcoholic fatty liver disease (NAFLD). METHODS: All patients with clinically suspected NASH underwent liver biopsy as a confirmatory test. The following clinical and biochemical variables at baseline were examined as likely predictors of fibrosis at histology: age, body mass index (BMI), systolic blood pressure (SBP), dyastolic blood pressure (DBP), fasting glucose, fasting insulin, homeostatic model assessment for insulin resistence (HOMA-IR), cholesterol, tryglicerides, alanine aminotransferase (ALT), aspartate aminotransferase (AST), AST/ALT ratio, gamma glutamil transferase (GT), platelet count, prothrombin time (PT). RESULTS: At histology 28 (40.6%) patients had no fibrosis and 41 (59.4%) had mild to bridging fibrosis. At multivariate analysis, BMI > 26.3 was the only independent predictor of fibrosis (OR = 5.85, 95% CI = 1.6-21). CONCLUSION: BMI helps identify children with NASH who might have fibrotic deposition in the liver. 展开更多
关键词 肝纤维 儿科 非酒精依赖 病理
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Photo Acoustic Energy Applications for the Detection of Human Arterial Blockages via Multiple Skin/Bone Layers, a Non-Invasive Approach
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作者 Monika Kakani Neeraj Rathi +4 位作者 Ahdy Helmy Ashok Kumar Thella M. D. James Rizkalla Paul Salama Maher E. Rizkalla 《World Journal of Cardiovascular Diseases》 2017年第8期251-270,共20页
The impact of arterial narrowing/blocking caused by plaque buildup in arteries leads to many life-threatening consequences. This is recognized as a cause in heart attacks and peripheral vascular disease. Diagnosing th... The impact of arterial narrowing/blocking caused by plaque buildup in arteries leads to many life-threatening consequences. This is recognized as a cause in heart attacks and peripheral vascular disease. Diagnosing the illness is only feasible after symptoms have presented to the patient. Currently, the standard for visualizing coronary arteries is through angiography, which may have complications, and impact on the healthcare system. Furthermore, cardiac catheterization may also places high health risks, given its overall invasiveness. Cardiac arrhythmias, infection, and contrast dye nephrotoxicity are recognized complications within this process. Therefore, a noninvasive approach may have potentials to reduce patient complications, finances surrounding healthcare, and more efficient patient care through earlier screening and diagnosing. This research addresses a new approach using photoacoustic (PA) imaging. The transmission properties of atherosclerosis within walls of arteries, can be exploited using photo acoustics, to better visualize and characterize the degree and severity of atherosclerosis. The delivered energy is absorbed by components of the vascular tissue converted into heat, leading to transient thermos elastic expansion, which creates an acoustic emission. The thermal response was analyzed for its fall and recovery times that are attributed to the artery fat type. The control parameters, including the frequency, penetration depth, energy levels, and tissue layer sizes, for multilayered structures were considered. The structures investigated were fatty infiltrate within the artery, blood, bones, and skin, within frequency range from 1 MHz to 3 MHz, and typical tissue sizes in the milli to centimeter range. As high as 14 MPas in the acoustic pressure at 1 MHz, resulted in temperature difference of up to 3.4 K. When the operating frequency was altered to 2 MHz, the temperature changed to 23 K. Furthermore, when the frequency was changed to 3 MHz, the temperature moved to 43 K. The changes in temperatures were for nearly 1 second duration. The results obtained in this study suggest that there is high potential for practical models using flexible substrate with infra-red sensors and acoustic devices. 展开更多
关键词 Acoustic Thermal CARDIOVASCULAR diagnosis MEMS/NEMS COMSOL MULTILAYERS non-invasive
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Non-Invasive Approaches for Oral Potential Malignant Disorders Surveillance: A Review
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作者 Jiaying Zhou Quan Liu +2 位作者 Xianyue Ren Bin Cheng Tong Wu 《Advances in Bioscience and Biotechnology》 2020年第5期188-205,共18页
Oral potential malignant disorders (OPMDs), a series of local diseases with carcinogenic potential occurred in oral mucosa, have the possibility of developing into oral cancer. Effective diagnosis and surveillance at ... Oral potential malignant disorders (OPMDs), a series of local diseases with carcinogenic potential occurred in oral mucosa, have the possibility of developing into oral cancer. Effective diagnosis and surveillance at the early stage of OPMDs may be of help for interrupting the malignant transformation. In this review, we introduced the available non-invasive approaches of detecting the suspicious lesions, including vital staining, oral cytology, optical detection, saliva biomarkers detection, and image analysis, which can enhance the detection efficiency for the early diagnosis and surveillance of OPMDs. However, limitations which restrict the clinical application of these approaches still exist. How to improve the sensitivity and specificity of these techniques deserves further detailed study. 展开更多
关键词 ORAL Potential MALIGNANT DISORDERS non-invasive Detection APPROACHES MALIGNANT Transformation Early diagnosis SURVEILLANCE
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Application of Stool-PCR test for diagnosis of Helicobacter pylori infection in children 被引量:5
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作者 Tahereh Falsafi Raha Favaedi +1 位作者 Fatemeh Mahjoub Mehri Najafi 《World Journal of Gastroenterology》 SCIE CAS CSCD 2009年第4期484-488,共5页
AIM:To evaluate the usefulness of stool-PCR test for diagnosis of Helicobacter pylori(H pylori)infection in pediatric populations. METHODS:Based on endoscopic features(including nodular gastritis,erosive duodenitis an... AIM:To evaluate the usefulness of stool-PCR test for diagnosis of Helicobacter pylori(H pylori)infection in pediatric populations. METHODS:Based on endoscopic features(including nodular gastritis,erosive duodenitis and ulcer)and/or a positive rapid urease test(RUT)obtained during endoscopy,28 children from a group of children admitted to the Children's Medical Center of Tehran for persistent upper gastrointestinal problems were selected to compare biopsy-based tests with stoolPCR.Their gastric activity and bacterial density were graded by the updated Sydney system,and their first stool after endoscopy was stored at-70℃.Biopsies were cultured on modified campy-blood agar plates and identified by gram-staining,biochemical tests,and PCR.Two methods of phenol-chloroform and boiling were used for DNA extraction from H pylori isolates. Isolation of DNA from stool was performed using a stool DNA extraction kit(Bioneer Inc,Korea).PCR was performed using primers for detection of vacA,cagA,and 16srRNA genes in both isolates and stool. RESULTS:Sixteen out of 28 child patients(57%) were classified as H pylori positive by biopsy-based tests,of which 11(39%)were also positive by stoolPCR.Sensitivity and specificity of stool-PCR was 62.5% and 92.3%respectively.H pylori was observed in histological sections for 10 out of 11 stool-positivepatients.Association was observed between higher score of H pylori in histology and positivity of stoolPCR.Also association was observed between the more severe form of gastritis and a positive stool-PCR. CONCLUSION:Association between higher score of H pylori in histology and a positive stool-PCR make it a very useful test for detection of H pylori active infection in children.We also suggest that a simple stool-PCR method can be a useful test for detection of H pylori virulence genes in stool. 展开更多
关键词 胃炎 幽门疾病 诊断 临床
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Variables Associated with Cirrhosis Diagnosis in Patients with Chronic Hepatitis C: A Case-Control Study
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作者 Gilmar Amorim de Sousa Iris do Céu Clara Costa +8 位作者 Dyego Leandro Bezerra de Souza Fabia Barbosa de Andrade Lívia Medeiros Soares Celani Ranna Santos Pessoa Marlon César de Souza Filho Daniel Fernandes Mello de Oliveira Luana Lopes de Medeiros Lucila Samara Dantas de Oliveira Maria Flávia Monteiro 《Health》 2015年第12期1634-1641,共8页
The diagnosis of liver cirrhosis in patients with chronic hepatitis C has not always been easy, since the gold standard method is the liver biopsy, which is an invasive procedure with interobserver accuracy problems a... The diagnosis of liver cirrhosis in patients with chronic hepatitis C has not always been easy, since the gold standard method is the liver biopsy, which is an invasive procedure with interobserver accuracy problems and there have been reports of complications including records of deaths due to hemoperitoneum. Cirrhosis changes the prognosis of the subject with hepatitis C and requires a different clinical management. This study aimed to identify clinical and laboratory variables associated with the diagnosis of cirrhosis in the ultrasonography of patients infected with hepatitis C. In a case-control study, we evaluated 70 cirrhotic patients with chronic hepatitis C compared to a control group of 70 non-cirrhotic people with positive HCV. The results showed, through logistic regression analysis, that the variables blood donor and professional athlete, adjusted for alcohol consumption, showed OR 0.24 and 0.18, with p values of 0.044 and 0.035, respectively. We conclude that the diagnosis of cirrhosis in patients with chronic hepatitis C remains challenging, but the patients with the condition of blood donor or professional athlete prove to be less likely to cirrhosis in ultrasonography in the initial consultation. 展开更多
关键词 CIRRHOSIS Biomakers Fibrosis Hepatitis C Virus Clinical diagnosis BIOPSY non-invasive Methods SCORES ULTRASONOGRAPHY
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NIPT提示胎儿性染色体非整倍体疾病高危孕妇的产前诊断及妊娠选择
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作者 姚静怡 冯树人 +1 位作者 谢晓媛 刘霞 《国际妇产科学杂志》 CAS 2024年第1期32-36,共5页
目的:调研无创产前筛查(noninvasive prenatal testing,NIPT)胎儿性染色体非整倍体(sex chromosomal aneuploidy,SCA)疾病高危孕妇接受产前诊断的情况以及对于SCA胎儿的接受程度和妊娠选择。方法:选取2019年12月—2023年2月自愿来天津... 目的:调研无创产前筛查(noninvasive prenatal testing,NIPT)胎儿性染色体非整倍体(sex chromosomal aneuploidy,SCA)疾病高危孕妇接受产前诊断的情况以及对于SCA胎儿的接受程度和妊娠选择。方法:选取2019年12月—2023年2月自愿来天津市妇女儿童保健中心进行NIPT的孕妇共23804例,收集NIPT成功检测并提示胎儿SCA高危的孕妇情况,对其介入性产前诊断情况以及分娩情况等进行回顾性分析。结果:NIPT检测成功者中阳性率为0.30%(72/23730)。72例中仅44例(61.11%)接受介入性产前诊断(均进行羊膜腔穿刺)并确诊SCA病例25例,阳性预测值为56.82%(25/44)。NIPT针对性染色体三体综合征的总体阳性预测值为95.45%(21/22),针对性染色体单体综合征的阳性预测值为13.64%(3/22),2组比较,差异有统计学意义(χ^(2)=29.700,P<0.001)。确诊SCA者中13例孕妇选择继续妊娠,均足月活产。不同类型的SCA终止妊娠率不同(47,XXX 20%,47,XXY 100%,47,XYY 40%,45,X 100%);28例拒绝进行介入性产前诊断的孕妇经追访,2例妊娠晚期失访;1例自然流产,未进行相关遗传学检测;1例因超声发现胎儿胸腔积液、脐膨出引产,引产胎儿未作相关检测;24例足月活产(其中1例分娩后半年追访:因生殖器问题行染色体核型分析,确诊47,XXY)。结论:NIPT提示胎儿SCA高危的遗传咨询应全面谨慎,针对胎儿确诊为SCA而选择继续妊娠以及拒绝产前诊断的孕妇,应提供完善的妊娠期产检监测,以及胎儿分娩后的生长发育监测和干预的健康管理。 展开更多
关键词 无创产前检测 产前诊断 性染色体 非整倍体 妊娠选择
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884例性染色体异常胎儿产前诊断结果分析
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作者 杨微微 姚立英 +4 位作者 任晨春 王文靖 张海霞 李雯 李博 《检验医学》 CAS 2024年第2期149-154,共6页
目的 对884例无创产前筛查(NIPS)提示性染色体异常的羊水样本进行核型分析、荧光原位杂交技术(FISH)和拷贝数变异测序(CNV-seq)检测,探讨不同方法在产前诊断中的价值。方法 选取2015年1月—2022年12月天津市中心妇产科医院孕早期NIPS提... 目的 对884例无创产前筛查(NIPS)提示性染色体异常的羊水样本进行核型分析、荧光原位杂交技术(FISH)和拷贝数变异测序(CNV-seq)检测,探讨不同方法在产前诊断中的价值。方法 选取2015年1月—2022年12月天津市中心妇产科医院孕早期NIPS提示胎儿为性染色体异常的孕妇884例,于孕中期采集羊水样本,进行羊水细胞核型分析和FISH检测,对结果不一致或培养失败的样本进一步行CNV-seq检测。结果 884例孕妇中,有341例(38.6%)检出异常核型,11例(1.2%)羊水细胞培养失败。NIPS性染色体阳性预测值为39.2%(341/873)。341例核型分析异常样本中,最常见的核型异常类型是47,XXY(108例),其次为47,XXX(80例)、47,XYY(68例)、45,X(18例),共检出51例嵌合体。884例孕妇中,有862例FISH检测结果与核型分析或CNV-seq结果一致,FISH的阳性预测值为97.5%;24例与核型分析结果不一致,进一步行CNV-seq检测,有22例CNV-seq结果与核型分析结果一致,并能相互补充分析;2例不一致样本中,1例核型分析结果为46,~+mar,FISH和CNV-seq结果均为45,X;1例核型分析结果为嵌合Y染色体异染色质区缺失,FISH和CNV-seq结果均为嵌合体,结构未见异常。结论 NIPS提示性染色体异常时,建议首选FISH和核型分析联合检测,可快速、准确地诊断染色体异常。对于疑似染色体特殊结构异常,建议进行FISH、核型分析和CNV-seq联合检测,可明确遗传学病因。 展开更多
关键词 无创产前筛查 染色体核型分析 荧光原位杂交技术 拷贝数变异测序 性染色体异常 产前诊断
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非侵入性指标对溃疡性结肠炎的诊断意义
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作者 关小明 陈锴 《中国现代药物应用》 2024年第6期75-78,共4页
目的 研究非侵入性指标在溃疡性结肠炎(UC)诊断中的应用价值。方法 选取66例UC患者为研究组,另选取66例健康检查者为对照组。检测并比较两组血液指标[中性粒细胞与淋巴细胞比值(NLR)、血小板与淋巴细胞比值(PLR)、中性粒细胞与血小板压... 目的 研究非侵入性指标在溃疡性结肠炎(UC)诊断中的应用价值。方法 选取66例UC患者为研究组,另选取66例健康检查者为对照组。检测并比较两组血液指标[中性粒细胞与淋巴细胞比值(NLR)、血小板与淋巴细胞比值(PLR)、中性粒细胞与血小板压积比值(NPR)、单核细胞与淋巴细胞比值(MLR)、总胆红素(TBIL)、间接胆红素(IBIL)、血清淀粉样蛋白A(SAA)]及粪便指标[粪钙卫蛋白(FC)、粪乳铁蛋白(FL)]。结果 研究组NLR(3.54±1.02)、PLR(223.39±45.27)、NPR(15.01±4.28)、SAA(22.60±5.08)mg/L、TBIL(19.03±7.56)μmol/L、IBIL(10.39±3.09)μmol/L、FC(177.24±21.27)μg/g、FL(201.72±32.11)μg/g均高于对照组的(1.54±0.68)、(75.35±22.21)、(8.11±2.99)、(3.89±1.32)mg/L、(15.01±7.31)μmol/L、(7.43±2.81)μmol/L、(32.42±13.71)μg/g、(55.00±17.50)μg/g(P<0.05);研究组MLR与对照组相比无差异(P>0.05)。中度组的NLR(3.99±1.13)、PLR(247.56±80.39)、SAA(33.76±11.04)mg/L、FC(279.48±104.63)μg/g、FL(278.05±47.36)μg/g均高于轻度组的(3.08±1.02)、(199.21±78.25)、(11.43±5.30)mg/L、(75.00±23.14)μg/g、(125.39±31.77)μg/g(P<0.05);中度组NPR、MLR、TBIL、IBIL与轻度组相比无差异(P>0.05)。NLR、PLR、NPR、SAA、TBIL、IBIL、FC、FL是UC发病的影响因素(P<0.05), NLR、SAA、FC是UC严重程度的影响因素(P<0.05)。结论 在诊断UC时使用非侵入性指标,对随时评估治疗效果以及预测疾病复发有一定的帮助。 展开更多
关键词 溃疡性结肠炎 非侵入性指标 诊断
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术前尿BTA、NMP22定量联合检测对膀胱癌的诊断价值研究
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作者 杨礼宾 许汉标 +2 位作者 杨海超 钟继生 廖振文 《岭南现代临床外科》 2024年第1期37-41,共5页
目的探讨术前尿BTA、NMP22定量联合测定对膀胱癌的诊断价值。方法选取2021年1月至2022年09月于惠州市中心人民医院泌尿外科确诊为膀胱癌的73例患者作为观察组,另选取同期就诊的73例泌尿系统良性疾病患者作为对照组。检测两组患者术前尿... 目的探讨术前尿BTA、NMP22定量联合测定对膀胱癌的诊断价值。方法选取2021年1月至2022年09月于惠州市中心人民医院泌尿外科确诊为膀胱癌的73例患者作为观察组,另选取同期就诊的73例泌尿系统良性疾病患者作为对照组。检测两组患者术前尿BTA、NMP22定量水平,根据检测结果回顾性分析两个指标在膀胱癌中的单项及联合诊断价值,同时分析不同临床肿瘤特征患者上述两个指标的阳性率差异情况。结果观察组和对照组的术前尿BTA定量水平分别为(997.85±237.73)pg/mL、(691.33±190.16)pg/mL;NMP22定量水平分别为(8.57±1.49)ng/mL、(6.23±1.29)ng/mL。与对照组相比,观察组患者术前尿BTA、NMP22水平均明显升高(P<0.01)。术前尿BTA、NMP22在膀胱癌诊断中的灵敏度分别为76.7%和78.1%,特异度为90.4%和91.8%,曲线下面积分别为0.849和0.867,此时两者的最佳截断值分别为834.55 pg/mL和7.47 ng/mL。两者联合诊断的灵敏度、特异度、曲线下面积分别为89.0%、87.7%、0.931,其中灵敏度及曲线下面积均较单项检测高。不同年龄、性别、BMI、吸烟情况患者的BTA和NMP22阳性率比较,差异无统计学意义(P>0.05);而不同肿瘤直径、肿瘤数目、肿瘤分级、肿瘤分期患者的BTA和NMP22阳性率比较,差异具有统计学意义(P<0.05)。结论术前尿BTA、NMP22定量水平测定对膀胱癌具有较好的诊断效能,具备无创、便捷、可批量检测等优点,且两者联合检测可提高诊断敏感度,减少漏诊可能,值得用于临床实践。 展开更多
关键词 膀胱癌 尿液无创诊断 尿膀胱肿瘤抗原 核基质蛋白22
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全氟丁烷超声造影联合CEUS LI-RADS对肝细胞癌的诊断价值
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作者 刘婷 杨金雨 +1 位作者 刘倩玉 杨青 《肝脏》 2024年第4期391-394,共4页
目的探讨全氟丁烷超声造影对HCC的诊断性能。方法回顾性分析84例行全氟丁烷超声造影患者的影像资料,观察病灶在血管相及在血管后相(Kupffer相)的表现。参照CEUS LI-RADS 5类标准,出现APHE伴延迟(≥60 s)/轻度廓清;将血管后相低增强代替... 目的探讨全氟丁烷超声造影对HCC的诊断性能。方法回顾性分析84例行全氟丁烷超声造影患者的影像资料,观察病灶在血管相及在血管后相(Kupffer相)的表现。参照CEUS LI-RADS 5类标准,出现APHE伴延迟(≥60 s)/轻度廓清;将血管后相低增强代替延迟或轻度廓清,以动脉期高增强(APHE)伴血管后相低增强为诊断标准。以病理结果及影像学随访为最终的金标准。分析两种方法对HCC的诊断效能。结果84例患者中恶性病灶65个,良性病灶19个。CEUS LR-5类的敏感度、特异度、准确度、阳性预测值、阴性预测值和约登指数分别为76.3%、93.1%、82.1%、95.5%、67.5%和0.695;APHE联合血管后相低增强的敏感度、特异度、准确度、阳性预测值、阴性预测值和约登指数分别为81.8%、93.1%、85.7%、95.7%、73.0%、0.749。APHE联合血管后相敏感度明显提高,差异有统计学意义(χ^(2)=11.58,P<0.05)。两种诊断方法与金标准相比,差异均有统计学意义(P<0.05)。结论以APHE联合血管后相低增强作为HCC诊断标准具有较高的灵敏度,全氟丁烷特有的血管后相可以为HCC的无创诊断提供更多的信息。 展开更多
关键词 肝细胞癌 超声造影 全氟丁烷 肝脏影像报告与数据管理系统 无创诊断
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尿液足细胞生物标志物在诊断免疫球蛋白A肾病中的价值
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作者 韦美菊 赵若蓓 +3 位作者 徐苑珊 罗宇珍 杨桢华 潘玲 《内科》 2024年第1期1-6,共6页
目的筛选在免疫球蛋白A肾病(IgAN)的诊断中具有临床价值的尿液足细胞生物标志物,并分析其与临床病理特征的相关性。方法选取129例IgAN患者作为IgAN组,60例特发性膜性肾病(IMN)患者作为IMN组,63例健康志愿者作为健康组。检测并比较上述... 目的筛选在免疫球蛋白A肾病(IgAN)的诊断中具有临床价值的尿液足细胞生物标志物,并分析其与临床病理特征的相关性。方法选取129例IgAN患者作为IgAN组,60例特发性膜性肾病(IMN)患者作为IMN组,63例健康志愿者作为健康组。检测并比较上述三组研究对象尿液中c‑Maf诱导蛋白(CMIP)、Ras同源基因家族成员A(RhoA)、丝切蛋白‑1(cofilin‑1)、可溶性尿激酶型纤溶酶原激活物受体(suPAR)、α‑klotho蛋白、肾病蛋白(nephrin)和足盂蛋白(PCX)的水平。应用受试者工作特征(ROC)曲线分析尿液足细胞生物标志物诊断IgAN的临床价值,应用Pearson或Spearman相关法分析尿液足细胞生物标志物与IgAN患者临床指标的相关性。结果IgAN与IMN组间、IgAN与健康组间的cofilin‑1和suPAR水平均存在差异(均P<0.05)。suPAR诊断IgAN的ROC曲线下面积为0.730,suPAR联合cofilin‑1诊断IgAN的ROC曲线下面积为0.772(均P<0.05)。相关性分析结果提示,suPAR与收缩压、24 h尿蛋白、总胆固醇、高密度脂蛋白、牛津病理评分E呈正相关,与白蛋白呈负相关;cofilin‑1与收缩压和舒张压均呈正相关,与估算肾小球滤过率呈负相关。结论IgAN患者的尿液足细胞生物标志物suPAR和cofilin‑1水平特异性升高,suPAR联合cofilin‑1在IgAN的无创诊断中有一定的价值。 展开更多
关键词 可溶性尿激酶型纤溶酶原激活物受体 丝切蛋白‑1 足细胞生物标志物 免疫球蛋白A肾病 无创诊断
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无创产前检测在筛查胎儿染色体拷贝数变异中的应用价值分析
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作者 彭圆 黄晓莉 《中国妇幼健康研究》 2024年第2期86-93,共8页
目的探讨无创产前检测(NIPT)技术在产前筛查胎儿染色体拷贝数变异(CNVs)中的临床意义及应用价值。方法选择2018年1月至2021年7月在淮安市妇幼保健院进行NIPT检测,结果提示可能为胎儿CNVs的224例孕妇为研究对象;对其中171例孕妇进行了羊... 目的探讨无创产前检测(NIPT)技术在产前筛查胎儿染色体拷贝数变异(CNVs)中的临床意义及应用价值。方法选择2018年1月至2021年7月在淮安市妇幼保健院进行NIPT检测,结果提示可能为胎儿CNVs的224例孕妇为研究对象;对其中171例孕妇进行了羊水穿刺及进一步的产前诊断[羊水染色体核型分析及染色体微阵列分析(CMA)],获得胎儿羊水样本171例。对比分析羊水染色体核型及CMA结果与NIPT结果,并进行随访。结果根据CNVs不同类型分组,微缺失组占所有CNVs的54.02%(121/224),微重复组占所有CNVs的39.73%(89/224),微缺失合并微重复组占所有CNVs的6.25%(14/224);微缺失组、微重复组、微缺失合并微重复组羊水穿刺阳性预测值分别为56.67%、50.70%、80.00%,三组间阳性预测值比较差异无统计学意义(χ2=3.412,P>0.05)。根据CNVs不同片段分组,>10Mb组占所有CNVs的18.75%(42/224),5~10Mb组占所有CNVs的20.54%(46/224),<5Mb组占所有CNVs的60.71%(136/224);>10Mb组、5~10Mb组、<5Mb组羊水穿刺阳性预测值分别为56.76%、60.00%、53.54%,三组间阳性预测值比较差异无统计学意义(χ2=0.465,P>0.05)。在经过羊水穿刺进行染色体核型分析和CMA确诊的95例胎儿CNVs中,致病性CNVs占33.68%(32/95),可能致病性CNVs占21.05%(20/95),意义不明确CNVs占41.05%(39/95),可能良性CNVs占4.21%(4/95),无良性CNVs病例。对NIPT提示可能为胎儿CNVs的224例孕妇进行电话或者门诊随访,随访率为86.16%(193/224);但接受羊水穿刺的孕妇随访率为100.00%。在致病性CNVs中选择继续妊娠的孕妇共5例,有3例经对父母进行CMA验证发现CNVs来自母源,有2例拒绝验证,5例新生儿中均未见明显异常表型。在可能致病性CNVs中选择继续妊娠的孕妇共10例,有3例经对父母进行CMA验证发现CNVs分别来自父源、母源、新发突变,有7例拒绝验证。结论应用NIPT对胎儿CNVs进行初步筛查有效且可行,对于NIPT提示可能为胎儿CNVs的孕妇,必须建议其进行规范的超声筛查及侵入性产前诊断。 展开更多
关键词 无创产前检测 染色体拷贝数变异 染色体微阵列分析 阳性预测值 产前诊断
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唐氏筛查单项值异常孕妇序贯性无创产前筛查应用价值探讨
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作者 李宏 余艳红 +3 位作者 张谞卓 卢静钿 叶夏 裘娟 《国际检验医学杂志》 CAS 2024年第10期1184-1187,1192,共5页
目的 探讨早期唐氏筛查单项值异常的孕妇序贯性无创产前筛查(NIPT)应用价值。方法 选取该院2022年1-10月收集的1 631例传统早期唐氏筛查单项值异常孕妇,均在签署知情同意书条件下自愿接受了NIPT,对NIPT发现的高风险样本行侵入性产前诊断... 目的 探讨早期唐氏筛查单项值异常的孕妇序贯性无创产前筛查(NIPT)应用价值。方法 选取该院2022年1-10月收集的1 631例传统早期唐氏筛查单项值异常孕妇,均在签署知情同意书条件下自愿接受了NIPT,对NIPT发现的高风险样本行侵入性产前诊断,随访追踪妊娠结局,NIPT低风险孕妇在预产期后进行随访。结果 在全部孕妇中,序贯性NIPT共检出10例胎儿染色体非整倍体高风险样本,包括1例21-三体综合征高风险、1例18-三体综合征高风险和7例性染色体异常,1例其他常染色异常。9例NIPT高风险孕妇接受了侵入性产前诊断,5例与NIPT结果一致,阳性预测值为55.56%,其中21-三体综合征、18-三体综合征、性染色体异常、其他常染色体异常阳性预测值分别为100.00%、100.00%、50.00%、0.00%。结论 早期唐氏筛查单项值异常孕妇序贯性NIPT可以提高缺陷胎儿的检出率,对于扩大性筛查降低缺陷患儿出生率具有一定的指导价值,鉴于阳性预测值不是很高,临床上对于唐氏筛查单项值异常孕妇应多加关注,必要时进一步产前诊断以降低出生缺陷儿的出生率。 展开更多
关键词 侵入性产前诊断 无创产前筛查 早期唐氏筛查 单项值异常
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分子印迹聚合物对血液中野百合碱-血红蛋白加合物的分析
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作者 葛燕辉 郑远茹 +1 位作者 郭景灿 江芷惠 《广东药科大学学报》 CAS 2024年第2期76-82,共7页
目的基于分子印迹技术,建立快速检测体内野百合碱和血红蛋白加合物的方法。方法以制备的野百合碱血红蛋白加合物为模板分子,经表面印迹聚合法制备野百合碱-血红蛋白分子印迹聚合物,用作固相萃取介质识别造模大鼠血液中的血红蛋白加合物... 目的基于分子印迹技术,建立快速检测体内野百合碱和血红蛋白加合物的方法。方法以制备的野百合碱血红蛋白加合物为模板分子,经表面印迹聚合法制备野百合碱-血红蛋白分子印迹聚合物,用作固相萃取介质识别造模大鼠血液中的血红蛋白加合物。结果理化性质表征结果显示聚合层成功接枝在碳纳米管表面,且聚合物具备良好的热稳定性;将聚合物作为固相萃取介质,对造模大鼠血液进行分析,结果显示聚合物血红蛋白加合物具有较强的吸附能力(吸附量达90.86 mg/mg),该结果与肝脏病理检测结果呈正相关性。结论所制备的聚合物可以快速分析体内血红蛋白加合物的含量,与肝脏病理结果相结合,为肝小静脉闭塞症的无创伤诊断提供新的研究思路。 展开更多
关键词 野百合碱 血红蛋白加合物 分子印迹聚合物 肝小静脉闭塞症 无创诊断
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