目的本研究重点关注1例产前诊断49,XXXXY综合征胎儿,并深入探讨了该疾病的症状、诊断、治疗和预防。方法通过对因产前早期唐氏筛查FreeHCG MoM减低转诊至湛江市妇幼保健院的孕妇先后进行了Ⅱ级彩超、三维/四维Ⅲ级产前超声检查发现胎儿...目的本研究重点关注1例产前诊断49,XXXXY综合征胎儿,并深入探讨了该疾病的症状、诊断、治疗和预防。方法通过对因产前早期唐氏筛查FreeHCG MoM减低转诊至湛江市妇幼保健院的孕妇先后进行了Ⅱ级彩超、三维/四维Ⅲ级产前超声检查发现胎儿存在异常,随后在孕20~+周时对该孕妇进行羊膜腔穿刺,将取得的羊水分别进行串联重复序列(short tandem repeats,STR)、染色体核型分析及拷贝数变异测序(copy number variation sequencing,CNV-seq)检测。同时,对该夫妇采取外周血进行染色体核型分析。结果Ⅱ、三维/四维Ⅲ级超声检查均提示胎儿双侧胸腔积液和胎儿全身皮肤水肿,羊水STR检测提示X染色体数目是常染色体2倍,羊水染色体核型分析提示为49,XXXXY,羊水CNV-seq结果显示胎儿染色体非整倍体为seq(X)x4,(Y)x1,(1-22)x2,夫妇双方染色体核型分析均为正常。我们结合以上检测结果将该胎儿明确诊断为49,XXXXY综合征。结论本研究结果不仅加深了49,XXXXY综合征产前诊断过程、临床表现及遗传学特点的理解,还完善了49,XXXXY综合征胎儿期超声表型,为临床医生和遗传咨询提供了宝贵参考,对预防出生缺陷具有重要意义。展开更多
Urchin-like W_(18)O_(49),with a large specific surface area(113.738 m^(2)g^(-1))and abundant oxygen vacancies(OVs),was prepared using an active sites tuning and microstructure engineering method.This material was appl...Urchin-like W_(18)O_(49),with a large specific surface area(113.738 m^(2)g^(-1))and abundant oxygen vacancies(OVs),was prepared using an active sites tuning and microstructure engineering method.This material was applied for U(Ⅵ)adsorption for the first time,demonstrating a high adsorption capacity of 567.55 mg g^(-1),which exceeds that of most inorganic adsorbents.Characterization via active site masking experiments and theoretical calculations,etc.,indicated that the excellent adsorption performance toward U(Ⅵ)was due to strong complexation between UO_(2)^(2+)and W–O bond of W_(18)O_(49),facile oxygen vacancy adsorption,and interface electron transfer from W^(5+)to UO_(2)^(2+),which acted as a reducing agent,partially converting U(Ⅵ)to U(IV).Furthermore,W_(18)O_(49)exhibited practical applicability with a removal rate exceeding 82%after 5 cycles,a 92.79%removal rate for real uranium-containing wastewater,and a high uranium recovery rate of 75.96%.Additionally,the synergistic adsorption-photocatalytic effect significantly enhanced U(Ⅵ)extraction,reaching an extraction capacity of 988.0mg g^(-1).This work provides a promising strategy for developing highly efficient U(Ⅵ)WO_(3)-based adsorbents.展开更多
文摘目的本研究重点关注1例产前诊断49,XXXXY综合征胎儿,并深入探讨了该疾病的症状、诊断、治疗和预防。方法通过对因产前早期唐氏筛查FreeHCG MoM减低转诊至湛江市妇幼保健院的孕妇先后进行了Ⅱ级彩超、三维/四维Ⅲ级产前超声检查发现胎儿存在异常,随后在孕20~+周时对该孕妇进行羊膜腔穿刺,将取得的羊水分别进行串联重复序列(short tandem repeats,STR)、染色体核型分析及拷贝数变异测序(copy number variation sequencing,CNV-seq)检测。同时,对该夫妇采取外周血进行染色体核型分析。结果Ⅱ、三维/四维Ⅲ级超声检查均提示胎儿双侧胸腔积液和胎儿全身皮肤水肿,羊水STR检测提示X染色体数目是常染色体2倍,羊水染色体核型分析提示为49,XXXXY,羊水CNV-seq结果显示胎儿染色体非整倍体为seq(X)x4,(Y)x1,(1-22)x2,夫妇双方染色体核型分析均为正常。我们结合以上检测结果将该胎儿明确诊断为49,XXXXY综合征。结论本研究结果不仅加深了49,XXXXY综合征产前诊断过程、临床表现及遗传学特点的理解,还完善了49,XXXXY综合征胎儿期超声表型,为临床医生和遗传咨询提供了宝贵参考,对预防出生缺陷具有重要意义。
基金financially supported by the National Natural Science Foundation of China(Nos.22366004 and 42302293)the National Key Laboratory of Uranium Resources Exploration-Mining and Nuclear Remote Sensing Independent Project(No.2024QZ-TD-19)+2 种基金the Key R&D Plan of Jiangxi Province(No.20212BBG71011)China Uranium Corporation Limited-East China University of Technology State Key Laboratory of Nuclear Resources and Environment Joint Innovation Fund(No.2023NRE-LH-19)the Innovation Special Fund Project of Graduate Student in East China University of Technology(No.DHYC-202414)
文摘Urchin-like W_(18)O_(49),with a large specific surface area(113.738 m^(2)g^(-1))and abundant oxygen vacancies(OVs),was prepared using an active sites tuning and microstructure engineering method.This material was applied for U(Ⅵ)adsorption for the first time,demonstrating a high adsorption capacity of 567.55 mg g^(-1),which exceeds that of most inorganic adsorbents.Characterization via active site masking experiments and theoretical calculations,etc.,indicated that the excellent adsorption performance toward U(Ⅵ)was due to strong complexation between UO_(2)^(2+)and W–O bond of W_(18)O_(49),facile oxygen vacancy adsorption,and interface electron transfer from W^(5+)to UO_(2)^(2+),which acted as a reducing agent,partially converting U(Ⅵ)to U(IV).Furthermore,W_(18)O_(49)exhibited practical applicability with a removal rate exceeding 82%after 5 cycles,a 92.79%removal rate for real uranium-containing wastewater,and a high uranium recovery rate of 75.96%.Additionally,the synergistic adsorption-photocatalytic effect significantly enhanced U(Ⅵ)extraction,reaching an extraction capacity of 988.0mg g^(-1).This work provides a promising strategy for developing highly efficient U(Ⅵ)WO_(3)-based adsorbents.
