简介:摘要目的探讨1例特殊面容合并多发畸形患儿的遗传学病因并分析其与临床表型的相关性。方法选取2020年11月4日因"孕妇胎膜早破、双胎妊娠(双绒毛膜双羊膜囊)、妊娠期糖尿病"于孕34+6周自然分娩出生的1例患儿作为研究对象,应用常规G显带方法分析患儿的染色体核型,再用高通量测序法分析患儿拷贝数变异(CNVs)的情况。结果患儿为男性,顺产出生,表现为特殊面容、尿道下裂、隐睾、四肢肌张力低等。患儿染色体核型为46,XY,del(3)(p26),高通量测序结果提示染色体3p26.3-p25.3 (60 000-9 860 000)存在约9.80 Mb的缺失,共涉及33个蛋白编码基因。结论3p26.3p25.3缺失可能是患儿的致病原因,需对其进行持续随访,提高生存质量。
简介:摘要目的通过采集肿瘤患者放疗前后外周血,探讨照射对人外周血血清miR-150-5p、miR-23a-3p表达的影响,以期为寻找辐射生物标志物提供科学依据。方法以2021年10月至2022年3月63例行放疗的肿瘤患者为研究对象,采用实时荧光定量PCR(qPCR)方法,检测患者放疗前后外周血血清miR-150-5p与miR-23a-3p的相对表达水平。比较两种miRNAs放疗前后在患者外周血血清中的差异表达变化,分析其与肿瘤类型等因素的关系。结果放疗后,患者外周血血清miR-150-5p与miR-23a-3p的相对表达量明显低于放疗前(t=4.97,Z=-2.77,P<0.05)。不同的肿瘤类型中,乳腺癌、食管癌和其他消化道肿瘤患者放疗后miR-150-5p的相对表达量降低(t=3.47、2.47、2.87,P<0.05),消化道肿瘤患者放疗后miR-23a-3p相对表达量下降(Z=-1.99,P<0.05)。在放疗前、后miR-150-5p的表达改变均不受性别、年龄、化疗和肿瘤类型等因素影响(P>0.05),而miR-23a-3p的表达改变在放疗后受性别、年龄和化疗等因素影响(t=2.04、-3.34、-2.29,P<0.05)。结论放疗可影响肿瘤患者血清中miR-150-5p的表达,其有作为辐射生物学标志物的潜力。
简介:Inthisstudy,weinvestigatetheinfluenceofdopingonthechargetransferanddevicecharacteristicsparametersinthebulkheterojunctionsolarcellsbasedonpoly(3-hexylthiophene)(P3HT)andamethanofuUerenederivative(PCBM).Organicsemiconductorsarealsoknowntobenotpureandtheyhavedefectsandimpurities,someofthemarebeingchargedandactasp-typeorn-typedopants.Calculationsofthesolarcellcharacteristicsparametersversusthep-dopinglevelhavebeendoneatthreedifferentn-dopings(N_d)thatconsistof5×10~(17)cm~(-3),10~(18)cm~(-3),and5×10~(18)cm~(-3).Weperformtheanalysisofthedopingconcentrationthroughthedrift-diffusionmodel,andcalculatethecurrentandvoltagedopingdependency.Wefindthatatthreedifferentn-dopantlevels,optimump-typedopingisaboutN_p=6×10~(18)cm~(-3).Simulationresultshaveshownthatbyincreasingdopinglevel,V_(oc)monotonicallyincreasesbydoping.CellefficiencyreachesitsmaximumatsomewhathigherdopingasFFhasitspeakatN_p=3×10~(18)cm~(-3).Moreover,thispaperdemonstratesthattheoptimumvalueforthep-dopingisaboutN_p=6×10~(18)cm~(-3)andoptimumvalueforn-dopantisN_d=10~(18)cm~(-3),respectively.Thesimulatedresultsconfirmthatdopingconsiderablyaffectstheperformanceoforganicsolarcells.
简介:Thecopolymerizationofp-diethynylbenzene(PDEB)withphenylacetylene(PhA),4,4’-diethynylbiphenyl(DEBP)orm-diethynylbenzene(MDEB)arestudiedbyvaryingmoleratiosofmonomers.WhenthemoleratiosofPDEB/PhAarelessorequalto1/5,thecopolymersaresolubleandfusible,buttheothercopolymersareinsolubleandinfusible.Theresultsshowthatthegoodsolventofcross-linkedcopolymersisbenzeneandtheirsolubilityparameteris9.15cal0.5.cm(-1.5).Andtheirswellability(θp),Hugginsparameter(χ),density(d425)andtheaveragemolecularweightsbetweencrosslinks(c)aremeasured.Itisfoundthatθpandcofcopolymersaregreaterbutd425islessthanthatofrespectivehomopolymers.IRspectrashowthatthecopolymershavetransoidconfigurationandsmallnumberofunreactedethynylgroupsexistinthecopolymers.Themechanismaboutthepolymerizationoracetylenicderivativesinitiatedby(Ph3P)2PdCl2isdiscussed.
简介:摘要目的探讨血浆微小核糖核酸-101-3p(miR-101-3p)及微小核糖核酸-141-3p(miR-141-3p)在脓毒症患儿中的表达及其临床意义。方法选择2016年1月至2019年10月三亚市人民医院收治的153例脓毒症患儿,根据其病情严重程度分为脓毒症非休克组(94例)和脓毒症休克组(59例);根据脓毒症患儿28 d的生存情况,将其分为存活组(107例)和死亡组(46例),另选取60例健康儿童作为健康对照组。采用实时荧光定量聚合酶链反应(RT-PCR)检测所有研究对象血浆miR-101-3p及miR-141-3p表达水平。应用受试者工作特征曲线(ROC)分析血浆miR-101-3p、miR-141-3p及降钙素原(PCT)水平对脓毒症诊断及预后评估的价值。采用Pearson相关分析脓毒症患儿血浆miR-101-3p及miR-141-3p表达水平与PCT、急性生理和慢性健康Ⅱ(APACHE Ⅱ)评分、序贯器官衰竭评分(SOFA评分)、白细胞计数及C反应蛋白水平的相关性。结果脓毒症休克组和脓毒症非休克组血浆miR-101-3p、miR-141-3p及PCT水平均高于健康对照组,差异均有统计学意义(均P<0.001),且脓毒症休克组血浆miR-101-3p(4.25±1.46比1.86±0.75)、miR-141-3p(3.17±1.08比1.20±0.52)及PCT[(20.75±9.36) μg/L比(5.80±2.40) μg/L]水平均明显高于脓毒症非休克组,差异均有统计学意义(均P<0.001)。死亡组和存活组血浆miR-101-3p、miR-141-3p及PCT水平均明显高于健康对照组,差异均有统计学意义(均P<0.001),且死亡组血浆miR-101-3p(4.83±1.62比1.40±0.58)、miR-141-3p(3.50±1.13比0.96±0.47)及PCT[(26.30±11.72) μg/L比(3.25±2.16) μg/L]水平均明显高于存活组,差异均有统计学意义(均P<0.001)。ROC曲线分析显示,miR-101-3p、miR-141-3p及PCT联合诊断脓毒症的曲线下面积(AUC)和95%可信区间(95%CI)明显高于miR-101-3p、miR-141-3p或PCT单独指标[0.908(0.850~0.970)比0.810(0.748~0.873)、0.784(0.723~0.844)、0.825(0.764~0.883),Z1=4.682、Z2=5.380、Z3=4.417,均P<0.05],其敏感度为92.5%,特异度为84.0%。miR-101-3p、miR-141-3p及PCT联合预测脓毒症患儿死亡的AUC和95%CI明显高于miR-101-3p、miR-141-3p或PCT单独指标[0.930(0.872~0.986)比0.848(0.786~0.907)、0.792(0.730~0.853)、0.820(0.762~0.878),Z1=4.537、Z2=5.728、Z3=5.106,均P<0.05],其敏感度为94.6%,特异度为87.0%。相关性分析显示,脓毒症患儿血浆miR-101-3p及miR-141-3p表达水平与PCT(r=0.804、0.773,均P<0.001)、APACHE Ⅱ评分(r=0.738、0.695,均P<0.001)及SOFA评分(r=0.752、0.764,均P<0.001)均呈正相关。结论脓毒症患儿血浆miR-101-3p及miR-141-3p表达水平明显升高,与脓毒症患儿的严重程度相关,miR-101-3p及miR-141-3p联合PCT对儿童脓毒症诊断及预后评估具有较高价值。
简介:AbstractPurpose:The pathogenesis of gastrinomas is largely unknown, and there is a lack of reliable genetic determinants that are useful to distinguish malignant and benign forms of this tumor or predict the prognosis of patients with this disease. Loss of heterozygosity (LOH) on chromosome 3p is reported to occur in pancreatic neuroendocrine tumors (PNETs) as well as in non-PNETs and its presence is reported to correlate with tumor prognosis in non-endocrine tumors. However, little data are available from prospective studies on gastrinomas.Experimental design:We assessed occurrence of 3p LOH in 24 gastrinomas and correlated its presence with tumor biological behavior and other clinicopathological features of gastrinomas.Results:Either 3p LOH or microsatellite instability involving 3p occurred in 11 of 24 tumors (46%). Seven (29%) gastrinomas had 3p LOH. Of the 7 gastrinomas with 3p LOH, 5 (71%) had 3p12 LOH with the marker D3S2406, which was the shortest region of highest overlap (SRO). Chromosome 3p LOH was not associated with aggressive biological behavior of gastrinomas or with poor prognosis of patients with gastrinoma. Similarly, 3p12 LOH (SRO) was not correlated with aggressive growth of tumors and/or liver metastases.Conclusion:Gastrinomas have a relative high frequency of 3p12 LOH suggesting this area may harbor putative tumor suppressor gene(s), which may play a role in the tumorigenesis, but not aggressiveness, of a subset of these tumors.
简介:摘要miR-142-3p是一种长约19~24核苷酸的短链非编码小RNA,通过转录后调控的方式广泛参与机体疾病的发生、发展进程,参与调控炎症反应及免疫细胞功能,与炎症性疾病如骨关节炎、脓毒症及免疫相关性疾病多发性硬化、系统性红斑狼疮等相关,并可以通过外泌体运输至靶组织,miR-142-3p有望成为免疫炎症性疾病治疗的新靶点。