目的 探讨Cornelia de Lange综合征(Cornelia de Lange syndrome, CdLS)2型双胞胎患儿的临床表型及基因检测结果,明确患儿的致病原因。方法 收集1例CdLS患儿及父母的临床资料,采集外周血进行家系高通量测序分析。结果 患儿具有特殊面容...目的 探讨Cornelia de Lange综合征(Cornelia de Lange syndrome, CdLS)2型双胞胎患儿的临床表型及基因检测结果,明确患儿的致病原因。方法 收集1例CdLS患儿及父母的临床资料,采集外周血进行家系高通量测序分析。结果 患儿具有特殊面容,眉毛浓密,鼻梁高,上唇薄,嘴角下斜。心脏超声提示动脉导管未闭,卵圆孔未闭。凝血及生化检测发现患儿凝血功能异常,低蛋白血症,胆红素升高。遗传代谢病串联质谱筛查未见明显异常;染色体非整倍体分析:染色体组成46,XY,染色体数目正常。家系全外显子组检测发现:患儿、弟弟及母亲均携带SMC1A基因c.897C>G变异,父亲为野生型。参考ACMG变异解读指南,该变异初步判定为可能致病变异。结论 双胞胎均携带SMC1A基因c.897C>G变异位点,该变异为新发变异,扩大了SMC1A基因变异谱,为临床诊断及患儿家系再生育指导提供了重要依据。展开更多
目的探讨Cornelia de Lange综合征(CdLS)的临床表型及基因型特点。方法回顾分析1例确诊CdLS患儿的临床资料,并总结分析国内已报道病例的情况。结果女性患儿,1岁2月龄,有特殊外貌,智力及运动发育落后,合并四肢畸形及听力异常。基因检测...目的探讨Cornelia de Lange综合征(CdLS)的临床表型及基因型特点。方法回顾分析1例确诊CdLS患儿的临床资料,并总结分析国内已报道病例的情况。结果女性患儿,1岁2月龄,有特殊外貌,智力及运动发育落后,合并四肢畸形及听力异常。基因检测发现患儿HDAC8基因c.675C>A(p.Y 225X)存在新发杂合无义变异,根据ACMG指南预测为致病性变异,确诊CdLS。通过对万方、维普、中国知网及PubMed数据库搜索,发现国内报道CdLS病例46例。其中26例行基因检查,20例(76.9%)存在NIPBL基因变异,3例(11.5%)HDAC8基因变异,1例(3.8%)SCM1A基因变异,2例未发现与临床吻合的致病性基因变异,表型各异。结论CdLS患儿存在特殊外貌、生长发育迟缓、多器官受累、听力障碍,多数可通过典型临床表型诊断,基因检测有助于非典型患者的早期诊断。展开更多
提出了一种新型的多层实现的Lange耦合器,它的耦合系数为3 d B。相较于传统加工工艺而言,多层技术克服了传统Lange耦合器由于线窄又紧靠在一起而加工困难的问题。该耦合器采用50Ω阻抗线进行匹配和进行终端测量。在中心频率处实现2.8 d ...提出了一种新型的多层实现的Lange耦合器,它的耦合系数为3 d B。相较于传统加工工艺而言,多层技术克服了传统Lange耦合器由于线窄又紧靠在一起而加工困难的问题。该耦合器采用50Ω阻抗线进行匹配和进行终端测量。在中心频率处实现2.8 d B耦合,相对带宽达到80%,实现超宽带。展开更多
BACKGROUND Cornelia de Lange syndrome(CdLS)is a congenital multisystemic genetic disorder.The expected lifespan of children with this disorder has been prolonged in parallel with the advances in medicine in recent yea...BACKGROUND Cornelia de Lange syndrome(CdLS)is a congenital multisystemic genetic disorder.The expected lifespan of children with this disorder has been prolonged in parallel with the advances in medicine in recent years.However,they still more frequently undergo cardiac surgery.There are some challenges for clinicians when faced with CdLS patients.We present the perioperative management of a child with CdLS undergoing open-heart surgery.CASE SUMMARY Severe pulmonic and subpulmonic valvular stenosis,enlargement of the right side of the heart,mild tricuspid regurgitation,atrial septal defect,and patent ductus arteriosus were diagnosed in a 14-month-old boy with manifested cyanosis,developmental delay,and malnutrition.Attempted balloon valvuloplasty was unsuccessful due to a severe stenotic pulmonary valve,therefore it was decided to perform an open surgical repair.Following a successful and uncomplicated intraoperative course,the patient was extubated on postoperative day 5,and adrenalin and dopamine infusions were gradually decreased and stopped on postoperative days 6 and 10,respectively.Moderate laryngomalacia and suboptimal vocal cord movements were diagnosed,and tracheotomy and percutaneous endoscopic gastrostomy were performed under general anesthesia in the same session at postoperative day 32.The patient was discharged on postoperative day 85 after a challenging postoperative period with additional airway and nutritional problems.CONCLUSION This is the first report of the perioperative anesthetic and clinical management of a CdLS patient undergoing open-heart surgery.展开更多
Cornelia de Lange综合征(CdLS)是一种以严重神经发育障碍为主要表现的遗传综合征,临床表现为智力障碍、典型的面部特征、宫内和生后生长发育迟缓及多器官系统畸形等,发病率约1/10 000~1/30 000。2017年国际CdLS共识小组成立,并于2018年...Cornelia de Lange综合征(CdLS)是一种以严重神经发育障碍为主要表现的遗传综合征,临床表现为智力障碍、典型的面部特征、宫内和生后生长发育迟缓及多器官系统畸形等,发病率约1/10 000~1/30 000。2017年国际CdLS共识小组成立,并于2018年7月发表了国际上首个关于CdLS的共识"Diagnosis and management of Cornelia de Lange syndrome:first international consensus statement"(《Cornelia de Lange综合征的诊断和管理:第一份国际共识声明》)。该共识通过改良德尔菲法制定,对CdLS患儿的诊断和管理提出了若干指导性意见。该文对共识进行解读,旨在帮助临床医生早期识别、诊断、规范随访及管理CdLS患者。展开更多
Cornelia de Lange(CdLS)综合征是一种罕见的累及多系统的先天性疾病,其主要特征包括颅面部畸形、肢体缺陷、智力发育障碍、行为异常及其他内脏器官受累。本文总结1例CdLS患儿临床表现,报道其新发基因突变结果,回顾分析国内31例CdLS患...Cornelia de Lange(CdLS)综合征是一种罕见的累及多系统的先天性疾病,其主要特征包括颅面部畸形、肢体缺陷、智力发育障碍、行为异常及其他内脏器官受累。本文总结1例CdLS患儿临床表现,报道其新发基因突变结果,回顾分析国内31例CdLS患者临床特点,并对该疾病目前的临床研究和分子生物学研究进行文献复习,旨在提高临床医生对本病的认识,做到及时诊治。展开更多
An Early Paleozoic ophiolitic mélange has recently been documented in the W.Gangma Co area,north-central Tibetan Plateau.It is composed of serpentinite,isotropic and cumulate gabbros,basalt and plagiogranite.Whole-
Cornelia de Lange综合征(Cornelia de Lange syndrome,CdLS;OMIM#122470,#300590,#610759)是一种罕见的累及多器官系统的遗传性疾病,1933年由荷兰儿科医生Cornelia de Lange首次系统报道,之后以他的名字命名此病。目前其发病率各国报...Cornelia de Lange综合征(Cornelia de Lange syndrome,CdLS;OMIM#122470,#300590,#610759)是一种罕见的累及多器官系统的遗传性疾病,1933年由荷兰儿科医生Cornelia de Lange首次系统报道,之后以他的名字命名此病。目前其发病率各国报道不一致(1/10000~1/50000),常呈散发,男女发病率基本相同。已发现CdLS致病基因有NIPBL、SMC1A、SMC3、RAD21、HDAC8等[1-2],常染色体显性遗传或X连锁遗传。展开更多
As one of the mélanges in the southern side of the Yarlung-Zangbo suture zone, the Saiqu mélange in southern Tibet is important for understanding the evolution of the Neo-Tethys ocean. The age of the Saiqu m...As one of the mélanges in the southern side of the Yarlung-Zangbo suture zone, the Saiqu mélange in southern Tibet is important for understanding the evolution of the Neo-Tethys ocean. The age of the Saiqu mélange, however, has been debated due to the lack of reliable fossil evidence in matrix strata. Based on lithological similarities with platform strata in southern Tibet and limited fossils from exotic blocks, previous studies variously ascribed the Saiqu mélange to be Triassic in general, Late Triassic, or Late Cretaceous. Here we reported planktonic foraminiferal faunas from the matrix strata of the Saiqu mélange. The new fossils yield a Late Cretaceous age, which is so far the best age constraint for the mélange. Regional stratigraphic correlation indicates that the Cretaceous Oceanic Red Beds （CORBs） in Saiqu may be time equivalent to the CORBs of the Zongzhuo Formation in neighboring regions. Thus the Saiqu m^lange should be correlated to the Upper Cretaceous Zongzhuo Formation rather than the Triassic Xiukang Group, as previously suggested.展开更多
This study focuses on the zircon U-Pb geochronology and geochemistry of the Bairiqiete granodiorite intrusion （rock mass） from the Buqingshan tectonic mélange belt in the southern margin of East Kunlun.The resu...This study focuses on the zircon U-Pb geochronology and geochemistry of the Bairiqiete granodiorite intrusion （rock mass） from the Buqingshan tectonic mélange belt in the southern margin of East Kunlun.The results show that the zircons are characterized by internal oscillatory zoning and high Th/U （0.14-0.80）,indicative of an igneous origin.LA-ICP-MS U-Pb dating of zircons from the Bairiqiete granodiorite yielded an age of 439.0 ± 1.9 Ma （MSWD =0.34）,implying that the Bairiqiete granodiorite formed in the early Silurian.Geochemical analyses show that the rocks are medium-K calc-alkaline,relatively high in Al2O3 （14.57-18.34 wt％） and metaluminous to weakly peraluminous.Rare-earth elements have low concentrations （45.49-168.31 ppm） and incline rightward with weak negative to weak positive Eu anomalies （δEu =0.64-1.34）.Trace-element geochemistry is characterized by negative anomalies of Nb,Ta,Zr,Hf and Ti and positive anomalies of Rb,Th and Ba.Moreover,the rocks have similar geochemical features with adakites.The Bairiqiete granodiorite appears to have a continental crust source and formed in a subduction-related island-arc setting.The Bairiqiete granodiorite was formed due to partial melting of the lower crust and suggests subduction in the Buqingshan area of the Proto-Tethys Ocean.展开更多
Glaucophane in Shuangjiang area, West Yunnan Province, supplies a chance for studying south segment of Lancangjiang tectonic zone. But people are at odds as to whether two stage glaucophane exists or not, glaucophane...Glaucophane in Shuangjiang area, West Yunnan Province, supplies a chance for studying south segment of Lancangjiang tectonic zone. But people are at odds as to whether two stage glaucophane exists or not, glaucophane is the result of dynamic metamorphism later, or indicates a high P/T metamorphic belt when Paleozoic Tethys Sea closed. Authors discover in a recent research that there is only one stage glaucophane in Shuangjiang area, and three blueschist belts are distributed near N S tending, and glaucophane in Shuangjiang area is related to the eastward subduction of Changning Menglian basin.展开更多
文摘目的 探讨Cornelia de Lange综合征(Cornelia de Lange syndrome, CdLS)2型双胞胎患儿的临床表型及基因检测结果,明确患儿的致病原因。方法 收集1例CdLS患儿及父母的临床资料,采集外周血进行家系高通量测序分析。结果 患儿具有特殊面容,眉毛浓密,鼻梁高,上唇薄,嘴角下斜。心脏超声提示动脉导管未闭,卵圆孔未闭。凝血及生化检测发现患儿凝血功能异常,低蛋白血症,胆红素升高。遗传代谢病串联质谱筛查未见明显异常;染色体非整倍体分析:染色体组成46,XY,染色体数目正常。家系全外显子组检测发现:患儿、弟弟及母亲均携带SMC1A基因c.897C>G变异,父亲为野生型。参考ACMG变异解读指南,该变异初步判定为可能致病变异。结论 双胞胎均携带SMC1A基因c.897C>G变异位点,该变异为新发变异,扩大了SMC1A基因变异谱,为临床诊断及患儿家系再生育指导提供了重要依据。
文摘目的探讨Cornelia de Lange综合征(CdLS)的临床表型及基因型特点。方法回顾分析1例确诊CdLS患儿的临床资料,并总结分析国内已报道病例的情况。结果女性患儿,1岁2月龄,有特殊外貌,智力及运动发育落后,合并四肢畸形及听力异常。基因检测发现患儿HDAC8基因c.675C>A(p.Y 225X)存在新发杂合无义变异,根据ACMG指南预测为致病性变异,确诊CdLS。通过对万方、维普、中国知网及PubMed数据库搜索,发现国内报道CdLS病例46例。其中26例行基因检查,20例(76.9%)存在NIPBL基因变异,3例(11.5%)HDAC8基因变异,1例(3.8%)SCM1A基因变异,2例未发现与临床吻合的致病性基因变异,表型各异。结论CdLS患儿存在特殊外貌、生长发育迟缓、多器官受累、听力障碍,多数可通过典型临床表型诊断,基因检测有助于非典型患者的早期诊断。
文摘BACKGROUND Cornelia de Lange syndrome(CdLS)is a congenital multisystemic genetic disorder.The expected lifespan of children with this disorder has been prolonged in parallel with the advances in medicine in recent years.However,they still more frequently undergo cardiac surgery.There are some challenges for clinicians when faced with CdLS patients.We present the perioperative management of a child with CdLS undergoing open-heart surgery.CASE SUMMARY Severe pulmonic and subpulmonic valvular stenosis,enlargement of the right side of the heart,mild tricuspid regurgitation,atrial septal defect,and patent ductus arteriosus were diagnosed in a 14-month-old boy with manifested cyanosis,developmental delay,and malnutrition.Attempted balloon valvuloplasty was unsuccessful due to a severe stenotic pulmonary valve,therefore it was decided to perform an open surgical repair.Following a successful and uncomplicated intraoperative course,the patient was extubated on postoperative day 5,and adrenalin and dopamine infusions were gradually decreased and stopped on postoperative days 6 and 10,respectively.Moderate laryngomalacia and suboptimal vocal cord movements were diagnosed,and tracheotomy and percutaneous endoscopic gastrostomy were performed under general anesthesia in the same session at postoperative day 32.The patient was discharged on postoperative day 85 after a challenging postoperative period with additional airway and nutritional problems.CONCLUSION This is the first report of the perioperative anesthetic and clinical management of a CdLS patient undergoing open-heart surgery.
文摘Cornelia de Lange综合征(CdLS)是一种以严重神经发育障碍为主要表现的遗传综合征,临床表现为智力障碍、典型的面部特征、宫内和生后生长发育迟缓及多器官系统畸形等,发病率约1/10 000~1/30 000。2017年国际CdLS共识小组成立,并于2018年7月发表了国际上首个关于CdLS的共识"Diagnosis and management of Cornelia de Lange syndrome:first international consensus statement"(《Cornelia de Lange综合征的诊断和管理:第一份国际共识声明》)。该共识通过改良德尔菲法制定,对CdLS患儿的诊断和管理提出了若干指导性意见。该文对共识进行解读,旨在帮助临床医生早期识别、诊断、规范随访及管理CdLS患者。
文摘Cornelia de Lange(CdLS)综合征是一种罕见的累及多系统的先天性疾病,其主要特征包括颅面部畸形、肢体缺陷、智力发育障碍、行为异常及其他内脏器官受累。本文总结1例CdLS患儿临床表现,报道其新发基因突变结果,回顾分析国内31例CdLS患者临床特点,并对该疾病目前的临床研究和分子生物学研究进行文献复习,旨在提高临床医生对本病的认识,做到及时诊治。
文摘An Early Paleozoic ophiolitic mélange has recently been documented in the W.Gangma Co area,north-central Tibetan Plateau.It is composed of serpentinite,isotropic and cumulate gabbros,basalt and plagiogranite.Whole-
文摘Cornelia de Lange综合征(Cornelia de Lange syndrome,CdLS;OMIM#122470,#300590,#610759)是一种罕见的累及多器官系统的遗传性疾病,1933年由荷兰儿科医生Cornelia de Lange首次系统报道,之后以他的名字命名此病。目前其发病率各国报道不一致(1/10000~1/50000),常呈散发,男女发病率基本相同。已发现CdLS致病基因有NIPBL、SMC1A、SMC3、RAD21、HDAC8等[1-2],常染色体显性遗传或X连锁遗传。
基金financially supported by the National Basic Research Program of China(973 Program,Grant No.2006CB701400)the Project of the Geological Survey of China(Grant Nos.H45C004004,G45C001004)the National Natural Science Foundation of China(Grant No.40472011).
文摘As one of the mélanges in the southern side of the Yarlung-Zangbo suture zone, the Saiqu mélange in southern Tibet is important for understanding the evolution of the Neo-Tethys ocean. The age of the Saiqu mélange, however, has been debated due to the lack of reliable fossil evidence in matrix strata. Based on lithological similarities with platform strata in southern Tibet and limited fossils from exotic blocks, previous studies variously ascribed the Saiqu mélange to be Triassic in general, Late Triassic, or Late Cretaceous. Here we reported planktonic foraminiferal faunas from the matrix strata of the Saiqu mélange. The new fossils yield a Late Cretaceous age, which is so far the best age constraint for the mélange. Regional stratigraphic correlation indicates that the Cretaceous Oceanic Red Beds （CORBs） in Saiqu may be time equivalent to the CORBs of the Zongzhuo Formation in neighboring regions. Thus the Saiqu m^lange should be correlated to the Upper Cretaceous Zongzhuo Formation rather than the Triassic Xiukang Group, as previously suggested.
基金supported financially by the National Nature Sciences Foundation of China (No. 41172186)the Fundamental Research Funds for the Central Universities (No. CHD2011TD020)+1 种基金the Commonweal Geological SurveyThe Aluminum Corporation of China and the Land-Resources Department of Qinghai Province (No. 200801)
文摘This study focuses on the zircon U-Pb geochronology and geochemistry of the Bairiqiete granodiorite intrusion （rock mass） from the Buqingshan tectonic mélange belt in the southern margin of East Kunlun.The results show that the zircons are characterized by internal oscillatory zoning and high Th/U （0.14-0.80）,indicative of an igneous origin.LA-ICP-MS U-Pb dating of zircons from the Bairiqiete granodiorite yielded an age of 439.0 ± 1.9 Ma （MSWD =0.34）,implying that the Bairiqiete granodiorite formed in the early Silurian.Geochemical analyses show that the rocks are medium-K calc-alkaline,relatively high in Al2O3 （14.57-18.34 wt％） and metaluminous to weakly peraluminous.Rare-earth elements have low concentrations （45.49-168.31 ppm） and incline rightward with weak negative to weak positive Eu anomalies （δEu =0.64-1.34）.Trace-element geochemistry is characterized by negative anomalies of Nb,Ta,Zr,Hf and Ti and positive anomalies of Rb,Th and Ba.Moreover,the rocks have similar geochemical features with adakites.The Bairiqiete granodiorite appears to have a continental crust source and formed in a subduction-related island-arc setting.The Bairiqiete granodiorite was formed due to partial melting of the lower crust and suggests subduction in the Buqingshan area of the Proto-Tethys Ocean.
文摘Glaucophane in Shuangjiang area, West Yunnan Province, supplies a chance for studying south segment of Lancangjiang tectonic zone. But people are at odds as to whether two stage glaucophane exists or not, glaucophane is the result of dynamic metamorphism later, or indicates a high P/T metamorphic belt when Paleozoic Tethys Sea closed. Authors discover in a recent research that there is only one stage glaucophane in Shuangjiang area, and three blueschist belts are distributed near N S tending, and glaucophane in Shuangjiang area is related to the eastward subduction of Changning Menglian basin.
