Cornelia de Lange综合征(CdLS)是一种罕见的先天性畸形疾病,其典型特征包括生长受限、智力迟钝、颅面异常和多毛症等。本研究报道2例CdLS患者,对其临床表现和基因变异特点进行总结,并结合相关文献进行复习。患者1,女性,5岁,因生长发育...Cornelia de Lange综合征(CdLS)是一种罕见的先天性畸形疾病,其典型特征包括生长受限、智力迟钝、颅面异常和多毛症等。本研究报道2例CdLS患者,对其临床表现和基因变异特点进行总结,并结合相关文献进行复习。患者1,女性,5岁,因生长发育缓慢就诊。查体多毛,一字眉,牙齿小、稀疏,前胸、后背可见血管瘤(约2 cm×2 cm),语言发育迟缓,智力落后;身高98 cm [≤-2标准差(SD)],体质量15 kg (-2SD~-1SD),头围46 cm (-3SD~-2SD);脑核磁共振成像(MRI)平扫显示左侧侧脑室侧后角和双侧侧脑室三角略扩大,双侧上颌窦和筛窦黏膜轻度增厚,心脏彩超显示二、三尖瓣轻度反流。患者2,女性,1个月,生后气促,软腭裂,吞咽困难及三凹征阳性,双手小、左手通贯掌、右手第5指短小,右侧髋关节外展受限,双足内翻,右眼底白斑。1个月时超声显示三尖瓣轻度反流,房间隔卵圆孔未闭。2d时脑MRI平扫显示纵裂池及天幕可见少许斑片状低信号影,少量蛛网膜下腔出血,双侧上颌窦、筛窦和中耳乳突少量积液。染色体核型分析未见明显结构及数目异常。全外显子组测序检测,患者1存在NIPBL基因c.6653_6655del杂合变异,患者2存在NIPBL基因c.337C>T杂合变异,父母均未检测到该变异。NIPBL基因变异是CdLS患者的主要遗传学病因,基因变异c.337C>T的鉴定扩展了NIPBL基因的变异谱系,为研究CdLS患者致病性基因变异提供了新证据。展开更多
Cornelia de Lange综合征(Cornelia de Lange syndrome,CdLS)在1933年由荷兰儿科医生Cornelia首次描述,该病是一种伴有多系统发育异常的遗传缺陷综合征,呈常染色体显性或X连锁显性方式遗传,发病率介于1/10000~1/30000活产新生儿,常表现...Cornelia de Lange综合征(Cornelia de Lange syndrome,CdLS)在1933年由荷兰儿科医生Cornelia首次描述,该病是一种伴有多系统发育异常的遗传缺陷综合征,呈常染色体显性或X连锁显性方式遗传,发病率介于1/10000~1/30000活产新生儿,常表现为成比例的身材矮小、宫内及出生后发育迟缓、特定的面部特征、多器官系统畸形(特别是心脏、胃肠道和肌肉骨骼系统)以及认知和行为方面的异常等。该病常见的突变基因有NIPBL、SMC1A、SMC3、RAD21、BRD4、HDAC8和ANKRD11,所有这些基因表达的蛋白都参与组成黏连蛋白复合物或影响其调节功能[1-2]。本团队对1例CdLS患儿及其家系成员进行基因突变检测,发现患儿携带HDAC8基因c.111+3A>T新发突变,既往未见报道,并统计中国目前报道的HDAC8基因突变所致CdLS患者基因型及临床表现,具体报告如下。展开更多
The study of sedimentary mélanges holds pivotal importance in understanding orogenic processes and unveiling geodynamic mechanisms.In this study,we present findings on zircon U-Pb isotopes and whole-rock elementa...The study of sedimentary mélanges holds pivotal importance in understanding orogenic processes and unveiling geodynamic mechanisms.In this study,we present findings on zircon U-Pb isotopes and whole-rock elemental data concerning the recently uncovered Zongzhuo Formation sedimentary mélanges within the Dingri area.Field observations reveal the predominant composition of the Zongzhuo Formation,characterized by a matrix of sandstone-mudstone mixed with sand-conglomerates within native blocks exhibiting soft sediment deformation.Moreover,exotic blocks originating from littoral-neritic seas display evidence of landslide deformation.Our study identifies the depositional environment of the Zongzhuo Formation in Dingri as a slope turbidite fan,with its provenance traced back to the passive continental margin.Notably,this contrasts with the Zongzhuo Formation found in the Jiangzi-Langkazi area.Based on existing data,we conclude that the Zongzhuo Formation in the Dingri area was influenced by the Dingri-Gamba fault and emerged within a fault basin of the passive continental margin due to Neo-Tethys oceanic subduction during the Late Cretaceous period.Its provenance can be attributed to the littoral-neritic sea of the northern Tethys Himalaya region.This study holds significant implications for understanding the tectonic evolution of Tethys Himalaya and for reevaluating the activity of the Dingri-Gamba fault,as it controls the active deposition of the Zongzhuo Formation.展开更多
The Ba Lang sand beaches, located north of the Nha Trang Bay in Central Vietnam, are famous tourist attractions. However, they are experiencing shoreline and coastal erosion retreat, which is attributed to natural cau...The Ba Lang sand beaches, located north of the Nha Trang Bay in Central Vietnam, are famous tourist attractions. However, they are experiencing shoreline and coastal erosion retreat, which is attributed to natural causes (such as tropical depressions, storms, and monsoons) as well as human impacts (such as hydropower generation, sand dredging, and coastal works). According to the forecast of the Vietnam Ministry of Natural Resources and Environment, global climate change will cause the sea level to rise by 74 cm along the coast from the Dai Lanh Cape to the Ke Ga Cape (including the Ba Lang beaches) by the end of this century in the representative concentration pathway (RCP) 8.5 scenario. Sea level rise (SLR) due to global climate change is expected to aggravate the coastal erosion and shoreline retreat problems. In this study, coupled numerical models with the spectral wave module (MIKE 21 SW), hydrodynamic module (MIKE 21 HD), and sand transport module (MIKE 21 ST) in the MIKE 21 package were used to simulate waves, current fields, and sediment dynamics along the Ba Lang beaches considering the impact of SLR. These models were calibrated with the field data measured in December 2016. The results showed that SLR caused the wave height to increase and reduced the current speed and total sediment load in monsoon conditions. The increase in wave height was even intensified under the joint impact of SLR and extreme events.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
As the Interlanguage is a lingual continuum between the native language and the target language, it is strongly influenced by both of them during its formation. On the other hand, language is inseparable from culture....As the Interlanguage is a lingual continuum between the native language and the target language, it is strongly influenced by both of them during its formation. On the other hand, language is inseparable from culture. Without the proper knowledge and understanding of the target language culture, one can never rally master it. So, to reduce the negative language transfer, the L2 learners should strengthen the target language culture study throughout their whole lingual development.展开更多
提议贡山三尖杉的新名称Cephalotaxus talonensis Cheng et Feng ex S.G.Lu et X.D.Lang替代不合法的旧名称Cephalotaxus lanceolata K.M.Feng in Cheng et al.(晚出同名)。对比贡山三尖杉和三尖杉Cephalotaxus fortunei Hooker的模式...提议贡山三尖杉的新名称Cephalotaxus talonensis Cheng et Feng ex S.G.Lu et X.D.Lang替代不合法的旧名称Cephalotaxus lanceolata K.M.Feng in Cheng et al.(晚出同名)。对比贡山三尖杉和三尖杉Cephalotaxus fortunei Hooker的模式标本和自然生长状态下的叶片形态,支持将贡山三尖杉处理为种的等级,不赞同Silba(1990)将贡山三尖杉降为三尖杉的变种[Cephalotaxus fortunei Hooker var.lanceolata(Feng)Silba]。文中提供4幅参照图片。展开更多
In order to investigate the evolution of Shiquanhe-Yongzhu-Jiali ophiolitic melange belt, the gabbros from new discovered Zhongcang ophiolitic melange are studied through petrology, whole-rock geochemistry, zircon U-P...In order to investigate the evolution of Shiquanhe-Yongzhu-Jiali ophiolitic melange belt, the gabbros from new discovered Zhongcang ophiolitic melange are studied through petrology, whole-rock geochemistry, zircon U-Pb dating and Lu-Hf isotope. The gabbros investigated in this paper contain cumulate gabbro and gabbro dike, and they have undergone greenschist-amphibolite facies metamorphism. The chondrite normalized rare earth element （REE） patterns of most of these rocks show flat types with slightly light REE （LREE） depletion and the N-MORB normalized incompatible elements diagrams indicate depletion in high field strength elements （HFSE） （Nb, Ta） and enrichment in large ion lithophile elements （LILE）. These gabbros have island arc and mid-ocean ridge basalt af- finities, suggesting that they were originated in an oceanic back arc basin. Whole rock geochemistry and high positive εNd（t） values show that these gabbros were derived from -30% partial melting of a spinel lherzolite mantle, which was enriched by interaction with slab-derived fluids and melts from sediment. U-Pb analyses of zircons from cumulate gabbro yield a weighted mean age of 114.3±1.4 Ma. Based on our data and previous studies, we propose that an intra-oceanic subduction system and back arc basin operated in the Neo-Tethy Ocean of central Tibet during Middle Jurassic and Early Creta- ceous, resembling modern active intra-oceanic subduction systems in the western Pacific.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
文摘Cornelia de Lange综合征(CdLS)是一种罕见的先天性畸形疾病,其典型特征包括生长受限、智力迟钝、颅面异常和多毛症等。本研究报道2例CdLS患者,对其临床表现和基因变异特点进行总结,并结合相关文献进行复习。患者1,女性,5岁,因生长发育缓慢就诊。查体多毛,一字眉,牙齿小、稀疏,前胸、后背可见血管瘤(约2 cm×2 cm),语言发育迟缓,智力落后;身高98 cm [≤-2标准差(SD)],体质量15 kg (-2SD~-1SD),头围46 cm (-3SD~-2SD);脑核磁共振成像(MRI)平扫显示左侧侧脑室侧后角和双侧侧脑室三角略扩大,双侧上颌窦和筛窦黏膜轻度增厚,心脏彩超显示二、三尖瓣轻度反流。患者2,女性,1个月,生后气促,软腭裂,吞咽困难及三凹征阳性,双手小、左手通贯掌、右手第5指短小,右侧髋关节外展受限,双足内翻,右眼底白斑。1个月时超声显示三尖瓣轻度反流,房间隔卵圆孔未闭。2d时脑MRI平扫显示纵裂池及天幕可见少许斑片状低信号影,少量蛛网膜下腔出血,双侧上颌窦、筛窦和中耳乳突少量积液。染色体核型分析未见明显结构及数目异常。全外显子组测序检测,患者1存在NIPBL基因c.6653_6655del杂合变异,患者2存在NIPBL基因c.337C>T杂合变异,父母均未检测到该变异。NIPBL基因变异是CdLS患者的主要遗传学病因,基因变异c.337C>T的鉴定扩展了NIPBL基因的变异谱系,为研究CdLS患者致病性基因变异提供了新证据。
文摘Cornelia de Lange综合征(Cornelia de Lange syndrome,CdLS)在1933年由荷兰儿科医生Cornelia首次描述,该病是一种伴有多系统发育异常的遗传缺陷综合征,呈常染色体显性或X连锁显性方式遗传,发病率介于1/10000~1/30000活产新生儿,常表现为成比例的身材矮小、宫内及出生后发育迟缓、特定的面部特征、多器官系统畸形(特别是心脏、胃肠道和肌肉骨骼系统)以及认知和行为方面的异常等。该病常见的突变基因有NIPBL、SMC1A、SMC3、RAD21、BRD4、HDAC8和ANKRD11,所有这些基因表达的蛋白都参与组成黏连蛋白复合物或影响其调节功能[1-2]。本团队对1例CdLS患儿及其家系成员进行基因突变检测,发现患儿携带HDAC8基因c.111+3A>T新发突变,既往未见报道,并统计中国目前报道的HDAC8基因突变所致CdLS患者基因型及临床表现,具体报告如下。
基金supported by the Geological Survey Project of the China Geological Survey(Grant No.DD20211547)the Basic Survey Project of the Command Center of Natural Resources Comprehensive Survey(Grant No.ZD20220508)。
文摘The study of sedimentary mélanges holds pivotal importance in understanding orogenic processes and unveiling geodynamic mechanisms.In this study,we present findings on zircon U-Pb isotopes and whole-rock elemental data concerning the recently uncovered Zongzhuo Formation sedimentary mélanges within the Dingri area.Field observations reveal the predominant composition of the Zongzhuo Formation,characterized by a matrix of sandstone-mudstone mixed with sand-conglomerates within native blocks exhibiting soft sediment deformation.Moreover,exotic blocks originating from littoral-neritic seas display evidence of landslide deformation.Our study identifies the depositional environment of the Zongzhuo Formation in Dingri as a slope turbidite fan,with its provenance traced back to the passive continental margin.Notably,this contrasts with the Zongzhuo Formation found in the Jiangzi-Langkazi area.Based on existing data,we conclude that the Zongzhuo Formation in the Dingri area was influenced by the Dingri-Gamba fault and emerged within a fault basin of the passive continental margin due to Neo-Tethys oceanic subduction during the Late Cretaceous period.Its provenance can be attributed to the littoral-neritic sea of the northern Tethys Himalaya region.This study holds significant implications for understanding the tectonic evolution of Tethys Himalaya and for reevaluating the activity of the Dingri-Gamba fault,as it controls the active deposition of the Zongzhuo Formation.
文摘The Ba Lang sand beaches, located north of the Nha Trang Bay in Central Vietnam, are famous tourist attractions. However, they are experiencing shoreline and coastal erosion retreat, which is attributed to natural causes (such as tropical depressions, storms, and monsoons) as well as human impacts (such as hydropower generation, sand dredging, and coastal works). According to the forecast of the Vietnam Ministry of Natural Resources and Environment, global climate change will cause the sea level to rise by 74 cm along the coast from the Dai Lanh Cape to the Ke Ga Cape (including the Ba Lang beaches) by the end of this century in the representative concentration pathway (RCP) 8.5 scenario. Sea level rise (SLR) due to global climate change is expected to aggravate the coastal erosion and shoreline retreat problems. In this study, coupled numerical models with the spectral wave module (MIKE 21 SW), hydrodynamic module (MIKE 21 HD), and sand transport module (MIKE 21 ST) in the MIKE 21 package were used to simulate waves, current fields, and sediment dynamics along the Ba Lang beaches considering the impact of SLR. These models were calibrated with the field data measured in December 2016. The results showed that SLR caused the wave height to increase and reduced the current speed and total sediment load in monsoon conditions. The increase in wave height was even intensified under the joint impact of SLR and extreme events.
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As the Interlanguage is a lingual continuum between the native language and the target language, it is strongly influenced by both of them during its formation. On the other hand, language is inseparable from culture. Without the proper knowledge and understanding of the target language culture, one can never rally master it. So, to reduce the negative language transfer, the L2 learners should strengthen the target language culture study throughout their whole lingual development.
基金supported by the National Forestry Public Welfare Foundation of China(Grant no.200804024)the National Natural Science Foundation of China(Grant nos.30770164&30970186)
文摘提议贡山三尖杉的新名称Cephalotaxus talonensis Cheng et Feng ex S.G.Lu et X.D.Lang替代不合法的旧名称Cephalotaxus lanceolata K.M.Feng in Cheng et al.(晚出同名)。对比贡山三尖杉和三尖杉Cephalotaxus fortunei Hooker的模式标本和自然生长状态下的叶片形态,支持将贡山三尖杉处理为种的等级,不赞同Silba(1990)将贡山三尖杉降为三尖杉的变种[Cephalotaxus fortunei Hooker var.lanceolata(Feng)Silba]。文中提供4幅参照图片。
基金supported by the National Nature Science Foundation of China (No. 41272240)the Project of China Geological Survey (No. 1212011121248)
文摘In order to investigate the evolution of Shiquanhe-Yongzhu-Jiali ophiolitic melange belt, the gabbros from new discovered Zhongcang ophiolitic melange are studied through petrology, whole-rock geochemistry, zircon U-Pb dating and Lu-Hf isotope. The gabbros investigated in this paper contain cumulate gabbro and gabbro dike, and they have undergone greenschist-amphibolite facies metamorphism. The chondrite normalized rare earth element （REE） patterns of most of these rocks show flat types with slightly light REE （LREE） depletion and the N-MORB normalized incompatible elements diagrams indicate depletion in high field strength elements （HFSE） （Nb, Ta） and enrichment in large ion lithophile elements （LILE）. These gabbros have island arc and mid-ocean ridge basalt af- finities, suggesting that they were originated in an oceanic back arc basin. Whole rock geochemistry and high positive εNd（t） values show that these gabbros were derived from -30% partial melting of a spinel lherzolite mantle, which was enriched by interaction with slab-derived fluids and melts from sediment. U-Pb analyses of zircons from cumulate gabbro yield a weighted mean age of 114.3±1.4 Ma. Based on our data and previous studies, we propose that an intra-oceanic subduction system and back arc basin operated in the Neo-Tethy Ocean of central Tibet during Middle Jurassic and Early Creta- ceous, resembling modern active intra-oceanic subduction systems in the western Pacific.
