多层螺旋CT在小儿先天性心脏病诊断中的应用分析

目的分析小儿先天性心脏病诊断中多层螺旋CT的应用价值。方法选取本院2013年6月~2014年12月收治的先天性心脏病患儿53例为研究对象,观察多层螺旋CT及超声心动图的诊断准确性。结果多层螺旋CT诊断准确率高于超声心动图,且心外畸形准确率高于超声心动图,差异有统计学意义(P0.05);两种方法在心内畸形诊断准确率,差异无统计学意义(P0.05)。结论小儿先天性心脏病诊断中,多层螺旋CT具有较高的诊断准确率,临床应用价值较高。     

超声心动图分段分析诊断复杂先天性心脏病的应用价值

目的探讨超声心动图分段分析诊断复杂先天性心脏病的准确率。方法回顾性分析近两年在我院经外科手术或心血管造影证实的26例复杂先天性心脏病患儿,包括中位心3例,镜像右位心1例,右旋心1例,左、右房异构各1例,单心室4例,左、右心室与大动脉连接不一致6例,心房与心室连接不一致3例,右室双出口7例,肺动脉闭锁2例,肺静脉畸形引流4例,且所有病例均存在两种以上畸形,以上病例均按照超声心动图分段分析方法顺序检查。结果手术证实26例患儿超声误诊漏诊左房异构1例,心室左袢2例,合并其他心脏血管畸形1例。结论超声心动图分段分析对大多数复杂先天性心脏病可以做出准确诊断,但对于极为复杂的心内结构及血管异常等还需造影或心导管检查。     

256层iCT低剂量技术在小儿先天性心脏病复杂畸形诊断中的应用

目的探讨256层螺旋CT(Brilliance i CT)在小儿先天性心脏病复杂畸形诊断中的应用价值。方法总结临床手术证实的先天性心脏病复杂畸形患儿28例的256层i CT图像特点,所选患儿CT检查前均行超声心动图检查,将CT检查结果与超声心动图检查及手术结果进行对比。结果 28例患儿共发现畸形68处,心内畸形28处,经256层i CT CT血管造影(CTA)检查检出率为82.1%,超声心动图(UCG)检出率为100%;心外畸形40处,256层i CT CTA检查检出率为92.5%,UCG检出率为77.5%。结论 256层i CT对小儿先天性心脏病心内畸形的诊断不及UCG,尤其在血管间的连接和走行、立体空间分布及大血管畸形等方面的诊断有其独特的优势,二者相结合,可有效提高术前诊断的准确率。     

胎儿超声心动图产前诊断先天性心脏病准确性评价

目的 评价胎儿超声心动图产前诊断先天性心脏病的准确性.方法 回顾2001年1月至2007年12月诊断为先天性心脏病胎儿的超声心动图资料,将产前诊断与胎儿心脏病理诊断或出生后新生儿超声心动图诊断结果进行比较.结果 研究期间共诊断胎儿先天性心脏病113例,初次检查时平均孕周为26.8周.79例(70%)行胎儿心脏病理检查或新生儿超声心动图检查确诊,其中68例产前诊断与产后诊断相符,产前诊断准确率86%.锥干畸形诊断准确率77%(24/31),间隔缺损96%(26/27),瓣膜畸形90%(9/10),单心室畸形83%(5/6).产前假阳性诊断4例,阳性预测值95%(75/79).结论 胎儿超声心动图检查是先天性心脏病产前诊断的有效方法,能够对各种常见类型的先天性心脏病进行准确诊断.完整的分段诊断是降低漏诊及误诊率,提高诊断准确性的关键.     

超声心动图在小儿感染性心内膜炎临床诊断中的应用价值

目的分析小儿感染性心内膜炎(IE)的临床特点,探讨超声心动图在IE诊断中的临床价值。方法选取我院2012年4月~2015年3月收治的IE患儿40例作为研究对象,分析IE的心脏基础疾病及临床表现,总结超声心动图特点。结果 IE患儿40例中,先天性心脏病22例,扩张性心肌病3例,心内膜弹力纤维增生症4例,风湿性心脏病6例,无基础性心脏病5例。超声心动图检查,伴有赘生物36例,阳性率为90%。患儿多以发热为首发症状,同时伴有心功能不全8例,脾肿大12例,镜下血尿10例。结论先天性心脏病是小儿感染性心内膜炎最常见的基础心脏病,超声心动图检查有助于IE的临床诊断,具有重要的临床价值。     

256层螺旋CT检查对小儿先天性心脏病的价值分析

目的浅析256层螺旋CT检查在小儿先天性心脏病中的临床诊断价值。方法选取2014年6月~2016年4月在我院接受256层CT心脏血管成像(CTA)和经胸部超声心动图(TTE)检查的患儿30例为研究对象,均经手术证实。将TTE、CTA结构与手术结果对照,分析其诊断准确率。结果 CTA检查和TTE检查的诊断准确率分别是94.51%、89.01%,两者之间比较,差异有统计学意义(P0.05)。结论 256CTA检查应用计算流体力学理论,在诊断及三维立体成像效果方面的优势明显优于超生心动图检查,对小儿先心病术式选择有指导意义。     

分析超声心动图联合外周血管超声诊断高血压心脏病效果

目的:分析超声心动图联合外周血管超声诊断高血压心脏病效果.方法:筛选的78例病例均为本院2019年4月-2020年3月收治的疑似高血压心脏病患者.均采用超声心动图单独检查及联合外周血管超声检查,估超声心动图单独应用及联合外周血管超声诊断高血压心脏病的差异.结果:综合检查检出高血压心脏病76例,超声心动图检出61例,超声...     

超声心动图在小儿先天性心脏病复杂畸形诊断中的应用价值

目的探讨超声心动图在小儿CHD复杂畸形诊断中的应用价值。方法对50例CHD复杂畸形患儿术前行超声心动图检查,总结其图像特点,并与手术结果进行对比分析,计算其诊断的准确率。结果手术证实的50例患儿中,超声心动图漏诊3例,部分型肺静脉异位引流漏诊1例,仅诊断为房间隔缺损及动脉导管未闭;合并动脉导管未闭的法乐四联症2例,未做动脉导管未闭(PDA)诊断,超声诊断准确率为94%,余超声检查结果与手术基本相符。结论超声心动图检查对小儿CHD的诊断准确率较高,值得临床广泛推广。     

复杂性先天性心脏病患儿的心电图与超声心动图比较分析

目的探讨复杂性先天性心脏病患儿的心电图与超声心动图检查结果的异同及原因。方法比较43例小儿复杂性先天性心脏病患儿的心电图与超声心动图检查,并比较两者心房、心室肥大及心脏位置的改变结果。结果复杂性先天性心脏病心电图均有明显异常的表现。其中30例与超声心动图检查结果基本吻合（69．8％）,13例与超声心动图检查结果不吻合（30.2％）,9例心电图表现为双心房,双心室肥大改变,超声心动图仅表现一侧心房或心室明显扩大,4例表现右位心样改变超声心动图则显示正常。结论复杂性先天性心脏病患儿的心电图常伴有P波极性和QRS电压和形态的变化,心电图图形同双心房或双心室肥大样改变相似,与一侧心房或心室的明显扩大有关,心电图图形同镜像右位心样改变,与心房反位伴房室连接不一致有关。     

超声心动图诊断成人先天性心脏病的临床特征及其应用价值

目的分析超声心动图诊断成人先天性心脏病的临床特征及其应用价值。方法选择2012年10月—2016年10月确诊的100例成人先天性心脏病病人为研究对象,应用彩色多普勒超声诊断仪观察心脏结构、畸形部位、血流情况及房室间隔连续性等,分析超声心动图诊断成人先天性心脏病的临床特点及诊断价值。结果 100例病人中,通过超声心动图检查确诊的先天性心脏病病人为96例,诊断正确率为96.00%,其中51例为单一畸形病人;房间隔缺损、室间隔缺损及动脉导管未闭等是成人先天性心脏病的主要类型。结论超声心动图诊断成人先天性心脏病的准确性较高,其临床特征明显,且安全无创,值得临床推广应用。     

Genetic analysis of phytosterolaemia

Two women with multiple xanthomas, intermittent arthritis and thrombocytopenia were diagnosed as phytosterolaemia, an autosomal-recessive lipid storage disease, based on their increased serum concentrations of -sitosterol, campesterol and sitostanol. The gene responsible for this disease is located within a distance of 18 cM between microsatellite markers of D2S1788 and D2S1352 at chromosome 2p21. We genotyped the patients and their family members with 16 microsatellite markers around this locus. The results from the homozygosity mapping of one family suggested that the gene was located within the distance of 12.6 cM between D2S2328 and D2S1352. We have shortened the genetic distance by 5.4 cM.     

Integrated analysis of ceRNA network in hepatocellular carcinoma using bioinformatics analysis

Background:Long noncoding RNAs (lncRNAs) can work as microRNA (miRNA) sponges through a competitive endogenous RNA (ceRNA) mechanism. LncRNAs and miRNAs are important components of competitive endogenous binding, and their expression imbalance in hepatocellular carcinoma (HCC) is closely related to tumor development, diagnosis, and prognosis. This study explored the potential impact of the ceRNA regulatory network in HCC on the prognosis of HCC patients.Methods:We thoroughly researched the differential expression profiles of lncRNAs, miRNAs, and mRNAs from 2 HCC Gene Expression Omnibus datasets ({"type":"entrez-geo","attrs":{"text":"GSE98269","term_id":"98269"}}GSE98269 and {"type":"entrez-geo","attrs":{"text":"GSE60502","term_id":"60502"}}GSE60502). Then, a dysregulated ceRNA network was constructed by bioinformatics. In addition, hub genes in the ceRNA network were screened by Cytoscape, these hub genes functional analysis was performed by gene set enrichment analysis, and the expression of these hub genes in tumors and their correlation with patient prognosis were verified with Gene Expression Profiling Interactive Analysis.Results:A ceRNA network was successfully constructed in this study including 4 differentially expressed (DE) lncRNAs, 7 DEmiRNAs, and 166 DEmRNAs. Importantly, 4 core genes (CCNA2, CHEK1, FOXM1, and MCM2) that were significantly associated with HCC prognosis were identified.Conclusions:Our study provides comprehensive and meaningful insights into HCC tumorigenesis and the underlying molecular mechanisms of ceRNA. Furthermore, the specific ceRNAs can be further used as potential therapeutic targets and prognostic biomarkers for HCC.     

Molecular analysis of thalassemia

Molecular analysis of gene structure using PCR related techniques has been described. These techniques were applied to analysis of the beta-globin gene from Japanese individuals with beta-thalassemia. We found one promoter mutation, two splicing mutations, two frameshift mutations, one nonsense mutation. We also detected three different mutations within the third exon. They produced highly unstable globin variants, leading a dominantly inherited beta-thalassemia phenotype. Six of nine different mutations seem to originate in Japanese. Characteristics of molecular defects of Japanese beta-thalassemia was discussed in terms of malaria hypothesis.