This review aimed to describe the inculpation of microRNAs(miRNAs)in thyroid cancer(TC)and its subtypes,mainly medullary thyroid carcinoma(MTC),and to outline web-based tools and databases for bioinformatics analysis ...This review aimed to describe the inculpation of microRNAs(miRNAs)in thyroid cancer(TC)and its subtypes,mainly medullary thyroid carcinoma(MTC),and to outline web-based tools and databases for bioinformatics analysis of miRNAs in TC.Additionally,the capacity of miRNAs to serve as therapeutic targets and biomarkers in TC management will be discussed.This review is based on a literature search of relevant articles on the role of miRNAs in TC and its subtypes,mainly MTC.Additionally,web-based tools and databases for bioinformatics analysis of miRNAs in TC were identified and described.MiRNAs can perform as oncomiRs or antioncoges,relying on the target mRNAs they regulate.MiRNA replacement therapy using miRNA mimics or antimiRs that aim to suppress the function of certain miRNAs can be applied to correct miRNAs aberrantly expressed in diseases,particularly in cancer.MiRNAs are involved in the modulation of fundamental pathways related to cancer,resembling cell cycle checkpoints and DNA repair pathways.MiRNAs are also rather stable and can reliably be detected in different types of biological materials,rendering them favorable diagnosis and prognosis biomarkers as well.MiRNAs have emerged as promising tools for evaluating medical outcomes in TC and as possible therapeutic targets.The contribution of miRNAs in thyroid cancer,particularly MTC,is an active area of research,and the utility of web applications and databases for the biological data analysis of miRNAs in TC is becoming increasingly important.展开更多
目的探讨近期皮质下小梗死(RSSI)患者颅内深髓静脉(DMV)可见性与不同区域血管周围间隙扩大(EPVS)及认知功能的相关性。方法回顾性连续纳入南京医科大学附属常州市第二人民医院神经内科自2022年10月至2023年10月收治的RSSI患者,所有患者...目的探讨近期皮质下小梗死(RSSI)患者颅内深髓静脉(DMV)可见性与不同区域血管周围间隙扩大(EPVS)及认知功能的相关性。方法回顾性连续纳入南京医科大学附属常州市第二人民医院神经内科自2022年10月至2023年10月收治的RSSI患者,所有患者入院后3 d内完成MR的常规及磁敏感加权成像(SWI)序列扫描。所有RSSI患者发病7 d内进行蒙特利尔认知评估(MoCA)量表评分。对所有患者基底节区(BG)和半卵圆中心区的EPVS进行分级评估和体积测量,使用DMV视觉评分对患者SWI幅度图或最小强度投影图上的DMV可见性进行评估,并将患者分为可见性较高的DMV低-中分组(评分0~12分,104例)及可见性较低的DMV高分组(评分13~18分,47例),采用单因素分析比较两组患者的临床和影像学资料,采用多因素Logistic回归和Spearman相关分析方法分析DMV可见性与BG-EPVS分级及体积的关系以及其与患者认知功能的关系。结果共纳入RSSI患者151例,平均年龄(69±10)岁,其中男92例(60.9%),女59例(39.1%)。DMV高分组RSSI患者的年龄[(76±5)岁比(65±10)岁,t=-10.875]、高血压病患者比例[78.7%(37/47)比54.8%(57/104),χ^(2)=7.879]、BG-EPVS分级、BG-EPVS体积[5.67(5.30,5.81)ln mm 3比4.61(3.66,5.30)ln mm 3,Z=-6.772]、脑白质高信号体积[7.67(6.23,8.43)ln mm 3比4.31(3.53,5.89)ln mm 3,Z=-6.501]均明显高于DMV低-中分组,差异均有统计学意义(均P<0.05)。DMV高分组RSSI患者的总胆固醇[3.74(3.20,4.39)mmol/L比4.09(3.47,4.96)mmol/L,Z=-2.082]、三酰甘油[1.20(0.78,1.86)mmol/L比1.53(1.05,1.99)mmol/L,Z=-2.343]、MoCA量表评分[21.0(20.0,22.0)分比24.0(22.0,25.0)分,Z=-9.862]均低于DMV低-中分组(均P<0.05)。其余基线资料差异均无统计学意义(均P>0.05)。多因素Logistic回归分析结果显示,较高的年龄(OR=1.181,95%CI:1.070~1.304,P=0.001)、中重度BG-EPVS(OR=2.441,95%CI:1.186~5.024,P=0.015)、较高的BG-EPVS体积(OR=4.987,95%CI:1.218~19.350,P=0.020)和较高的WMH体积(OR=1.285,95%CI:1.044~1.582,P=0.018)与较高的DMV评分相关。Spearman相关性分析结果显示,DMV评分与RSSI患者的BG-EPVS分级呈正相关(r=0.613,P<0.01),与BG-EPVS体积呈正相关(r=0.549,P<0.01),与RSSI患者的MoCA量表评分呈负相关(r=-0.449,P<0.01)。结论年龄、BG-EPVS分级、BG-EPVS体积和WMH体积与RSSI患者的DMV可见性相关;RSSI患者DMV的可见性越差,认知功能损伤越严重。展开更多
BACKGROUND Multiple endocrine neoplasia type 2(MEN2)is a rare,autosomal dominant endocrine disease.Currently,the RET proto-oncogene is the only gene implicated in MEN2A pathogenesis.Once an RET carrier is detected,fam...BACKGROUND Multiple endocrine neoplasia type 2(MEN2)is a rare,autosomal dominant endocrine disease.Currently,the RET proto-oncogene is the only gene implicated in MEN2A pathogenesis.Once an RET carrier is detected,family members should be screened to enable early detection of medullary thyroid carcinoma,pheochromocytoma,and hyperparatitity.Among these,medullary thyroid carcinoma is the main factor responsible for patient mortality.Accordingly,delineating strategies to inform clinical follow-up and treatment plans based on genes is paramount for clinical practitioners.CASE SUMMARY Herein,we present RET proto-oncogene mutations,clinical characteristics,and treatment strategies in a family with MEN2A.A family study was conducted on patients diagnosed with MEN2A.DNA was extracted from the peripheral blood of family members,and first-generation exon sequencing of the RET protooncogene was conducted.The C634Y mutation was identified in three family members spanning three generations.Two patients were sequentially diagnosed with pheochromocytomas and bilateral medullary thyroid carcinomas.A 9-yearold child harboring the gene mutation was diagnosed with medullary thyroid carcinoma.Surgical resection of the tumors was performed.All family members were advised to undergo complete genetic testing related to the C634Y mutation,and the corresponding treatments administered based on test results and associated clinical guidelines.CONCLUSION Advancements in MEN2A research are important for familial management,assessment of medullary thyroid cancer invasive risk,and deciding surgical timing.展开更多
文摘This review aimed to describe the inculpation of microRNAs(miRNAs)in thyroid cancer(TC)and its subtypes,mainly medullary thyroid carcinoma(MTC),and to outline web-based tools and databases for bioinformatics analysis of miRNAs in TC.Additionally,the capacity of miRNAs to serve as therapeutic targets and biomarkers in TC management will be discussed.This review is based on a literature search of relevant articles on the role of miRNAs in TC and its subtypes,mainly MTC.Additionally,web-based tools and databases for bioinformatics analysis of miRNAs in TC were identified and described.MiRNAs can perform as oncomiRs or antioncoges,relying on the target mRNAs they regulate.MiRNA replacement therapy using miRNA mimics or antimiRs that aim to suppress the function of certain miRNAs can be applied to correct miRNAs aberrantly expressed in diseases,particularly in cancer.MiRNAs are involved in the modulation of fundamental pathways related to cancer,resembling cell cycle checkpoints and DNA repair pathways.MiRNAs are also rather stable and can reliably be detected in different types of biological materials,rendering them favorable diagnosis and prognosis biomarkers as well.MiRNAs have emerged as promising tools for evaluating medical outcomes in TC and as possible therapeutic targets.The contribution of miRNAs in thyroid cancer,particularly MTC,is an active area of research,and the utility of web applications and databases for the biological data analysis of miRNAs in TC is becoming increasingly important.
文摘目的探讨近期皮质下小梗死(RSSI)患者颅内深髓静脉(DMV)可见性与不同区域血管周围间隙扩大(EPVS)及认知功能的相关性。方法回顾性连续纳入南京医科大学附属常州市第二人民医院神经内科自2022年10月至2023年10月收治的RSSI患者,所有患者入院后3 d内完成MR的常规及磁敏感加权成像(SWI)序列扫描。所有RSSI患者发病7 d内进行蒙特利尔认知评估(MoCA)量表评分。对所有患者基底节区(BG)和半卵圆中心区的EPVS进行分级评估和体积测量,使用DMV视觉评分对患者SWI幅度图或最小强度投影图上的DMV可见性进行评估,并将患者分为可见性较高的DMV低-中分组(评分0~12分,104例)及可见性较低的DMV高分组(评分13~18分,47例),采用单因素分析比较两组患者的临床和影像学资料,采用多因素Logistic回归和Spearman相关分析方法分析DMV可见性与BG-EPVS分级及体积的关系以及其与患者认知功能的关系。结果共纳入RSSI患者151例,平均年龄(69±10)岁,其中男92例(60.9%),女59例(39.1%)。DMV高分组RSSI患者的年龄[(76±5)岁比(65±10)岁,t=-10.875]、高血压病患者比例[78.7%(37/47)比54.8%(57/104),χ^(2)=7.879]、BG-EPVS分级、BG-EPVS体积[5.67(5.30,5.81)ln mm 3比4.61(3.66,5.30)ln mm 3,Z=-6.772]、脑白质高信号体积[7.67(6.23,8.43)ln mm 3比4.31(3.53,5.89)ln mm 3,Z=-6.501]均明显高于DMV低-中分组,差异均有统计学意义(均P<0.05)。DMV高分组RSSI患者的总胆固醇[3.74(3.20,4.39)mmol/L比4.09(3.47,4.96)mmol/L,Z=-2.082]、三酰甘油[1.20(0.78,1.86)mmol/L比1.53(1.05,1.99)mmol/L,Z=-2.343]、MoCA量表评分[21.0(20.0,22.0)分比24.0(22.0,25.0)分,Z=-9.862]均低于DMV低-中分组(均P<0.05)。其余基线资料差异均无统计学意义(均P>0.05)。多因素Logistic回归分析结果显示,较高的年龄(OR=1.181,95%CI:1.070~1.304,P=0.001)、中重度BG-EPVS(OR=2.441,95%CI:1.186~5.024,P=0.015)、较高的BG-EPVS体积(OR=4.987,95%CI:1.218~19.350,P=0.020)和较高的WMH体积(OR=1.285,95%CI:1.044~1.582,P=0.018)与较高的DMV评分相关。Spearman相关性分析结果显示,DMV评分与RSSI患者的BG-EPVS分级呈正相关(r=0.613,P<0.01),与BG-EPVS体积呈正相关(r=0.549,P<0.01),与RSSI患者的MoCA量表评分呈负相关(r=-0.449,P<0.01)。结论年龄、BG-EPVS分级、BG-EPVS体积和WMH体积与RSSI患者的DMV可见性相关;RSSI患者DMV的可见性越差,认知功能损伤越严重。
基金Supported by The Finance Bureau of Dongguan City,Guangdong Province.
文摘BACKGROUND Multiple endocrine neoplasia type 2(MEN2)is a rare,autosomal dominant endocrine disease.Currently,the RET proto-oncogene is the only gene implicated in MEN2A pathogenesis.Once an RET carrier is detected,family members should be screened to enable early detection of medullary thyroid carcinoma,pheochromocytoma,and hyperparatitity.Among these,medullary thyroid carcinoma is the main factor responsible for patient mortality.Accordingly,delineating strategies to inform clinical follow-up and treatment plans based on genes is paramount for clinical practitioners.CASE SUMMARY Herein,we present RET proto-oncogene mutations,clinical characteristics,and treatment strategies in a family with MEN2A.A family study was conducted on patients diagnosed with MEN2A.DNA was extracted from the peripheral blood of family members,and first-generation exon sequencing of the RET protooncogene was conducted.The C634Y mutation was identified in three family members spanning three generations.Two patients were sequentially diagnosed with pheochromocytomas and bilateral medullary thyroid carcinomas.A 9-yearold child harboring the gene mutation was diagnosed with medullary thyroid carcinoma.Surgical resection of the tumors was performed.All family members were advised to undergo complete genetic testing related to the C634Y mutation,and the corresponding treatments administered based on test results and associated clinical guidelines.CONCLUSION Advancements in MEN2A research are important for familial management,assessment of medullary thyroid cancer invasive risk,and deciding surgical timing.
