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儿童Loeys Dietz综合征行Bentall手术1例 被引量:2
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作者 钟烈强 李渝芬 +2 位作者 王树水 陈寄梅 潘微 《中华实用儿科临床杂志》 CSCD 北大核心 2020年第23期1830-1832,共3页
对1例生长发育迟缓、全身多发畸形Loeys Dietz综合征(LDS)患儿的临床资料、随访数据及遗传学检测结果进行回顾性分析。患儿,男,3岁3个月,不完全腭裂,双手中指痉挛,疝气,膝关节过伸,心脏彩超示主动脉窦部、升主动脉内径扩张,主动脉瓣中... 对1例生长发育迟缓、全身多发畸形Loeys Dietz综合征(LDS)患儿的临床资料、随访数据及遗传学检测结果进行回顾性分析。患儿,男,3岁3个月,不完全腭裂,双手中指痉挛,疝气,膝关节过伸,心脏彩超示主动脉窦部、升主动脉内径扩张,主动脉瓣中度返流。遗传性心血管基因测序分析提示:TGFβR2基因有一个杂合突变,为错义突变。根据基因检测结果,结合患儿临床特征性表型,诊断为LDS 2型。患儿3岁3个月于广东省人民医院行"主动脉瓣,升主动脉置换术(Bentall)+冠状动脉延长移植(Cabrol)术",术后恢复良好。本例为我国目前报道的接受Bentall手术治疗的最小患儿。LDS累及全身结缔组织和器官,全身动脉尤其是大动脉受累严重、进展速度快。基因检测与临床症状相结合对LDS鉴别诊断具有重要价值。超声心动图是监测儿童LDS心血管病变进展的重要手段,对手术方式、手术时机的选择具有重要指导意义。4岁以下儿童采用Bentall手术也可取得良好预后。 展开更多
关键词 loeys Dietz综合征 BENTALL手术 基因
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Geochemistry,Zircon U-Pb Age and Hf Isotopic Constraints on the Petrogenesis of the Silurian Rhyolites in the Loei Fold Belt and Their Tectonic Implications 被引量:8
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作者 Tianyu Zhao Xin Qian Qinglai Feng 《Journal of Earth Science》 SCIE CAS CSCD 2016年第3期391-402,共12页
Zircon U-Pb dating, Lu-Hf isotopic and geochemical data for the Silurian rhyolites from the Loei fold belt are presented to constrain their petrogenesis and tectonic settings. The rhyolites give a weighted mean 206Pb/... Zircon U-Pb dating, Lu-Hf isotopic and geochemical data for the Silurian rhyolites from the Loei fold belt are presented to constrain their petrogenesis and tectonic settings. The rhyolites give a weighted mean 206Pb/238 U age of 423.7±2.7 Ma, and are characterized by high SiO2, Al2O3, K2 O and low MnO, MgO and P2O5. All samples are enriched in LILEs(e.g., Ba, K, Pb) and LREEs and depleted in HFSEs(e.g., Nb, Ta, Ti) with obvious negative Eu-anomalies(δEu=0.56–0.63). The calc-alkaline rhyolites are typical arc-related rocks. The Loei rhyolites have high A/CNK ratios(1.19–1.34) and positive εHf(t)(4.03–5.38), which can be interpreted as partial melting of juvenile crustal materials followed by multistage melting and differentiation, similar to highly fractional I-type rocks. Combined with regional geological surveys, the Loei rhyolites should be formed in a volcanic arc environment and may be in contact with the Truong Son fold belt during the Early Paleozoic. Moreover, the Simao Block might be in contiguity with the Indochina Block during Silurian. 展开更多
关键词 I-type rhyolite zircon U-Pb dating Hf isotopic composition geochemical characteristics Loei fold belt Indochina Block
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