Helsmoortel-Van der Aa综合征(HVDAS)是一种罕见的神经发育障碍性疾病,主要由活性依赖性神经保护蛋白(ADNP)基因突变引起,是最常见的孤独症谱系障碍(ASD)单基因病因之一。本文分析2024年就诊于海口市妇幼保健院的1例患儿,男,3岁10个月...Helsmoortel-Van der Aa综合征(HVDAS)是一种罕见的神经发育障碍性疾病,主要由活性依赖性神经保护蛋白(ADNP)基因突变引起,是最常见的孤独症谱系障碍(ASD)单基因病因之一。本文分析2024年就诊于海口市妇幼保健院的1例患儿,男,3岁10个月,因“运动、语言发育迟缓2年余,社交障碍1年余”入院,检查发现患儿存在孤独症谱系障碍、全面发育迟缓、特殊面容、矮小、脑积水等临床表现,基因检测发现患儿携带ADNP基因杂合突变{NM_001282531.3(ADNP):c.2189(exon6)delG[p.(Arg730Glnfs3)]},其父母及妹妹均未携带该突变。总结临床资料并结合文献复习,ADNP基因在染色质重塑和神经发育障碍中发挥重要作用,ADNP基因突变可累及多系统。此例HVDAS具有典型临床表现,并拓宽了脑积水的表型谱,为此类基因变异的遗传咨询以及临床医师的早期识别提供了参考依据。展开更多
Helsmoortel-Van der Aa综合征(HVDAS),是一种罕见的神经发育障碍疾病,主要由功能活性依赖神经保护蛋白(ADNP)基因突变引起。该文回顾性分析了就诊于济宁医学院附属医院的1例HVDAS患儿,系1岁3个月男性幼儿,其存在运动、语言、智力发育...Helsmoortel-Van der Aa综合征(HVDAS),是一种罕见的神经发育障碍疾病,主要由功能活性依赖神经保护蛋白(ADNP)基因突变引起。该文回顾性分析了就诊于济宁医学院附属医院的1例HVDAS患儿,系1岁3个月男性幼儿,其存在运动、语言、智力发育障碍及孤独症样刻板行为,有行为问题,外貌畸形,视力异常,反复呼吸道感染等临床表现,基因检测发现患儿携带ADNP基因杂合突变c.2157C>A(p.Tyr719Ter),其父母均未携带该突变。因此,提示临床工作者要加强对该疾病的认识,做到早发现、早治疗,以积极干预,从而提高患儿的生活质量。展开更多
本文报道1例ADNP基因新发杂合变异Helsmoortel-Van der Aa综合征病例。该患儿为1岁6月男童,存在有特殊面容、智力发育低下、运动、语言发育迟缓、小手等临床表现,基因分析显示患儿ADNP基因有一个新发变异位点C.460_461insAA(p.P154Qfs*...本文报道1例ADNP基因新发杂合变异Helsmoortel-Van der Aa综合征病例。该患儿为1岁6月男童,存在有特殊面容、智力发育低下、运动、语言发育迟缓、小手等临床表现,基因分析显示患儿ADNP基因有一个新发变异位点C.460_461insAA(p.P154Qfs*7),为移码突变。Helsmoortel-Van der Aa综合征可累及多系统,基因检测有助于诊断。展开更多
“双碳”目标背景下,为实现综合能源系统(integrated energy systems,IES)多能耦合利用和低碳化,文中提出含光热模块的先进绝热压缩空气(advanced adiabatic compressed air energy storage,AA-CAES)储能电站和电转气(power to gas,P2G...“双碳”目标背景下,为实现综合能源系统(integrated energy systems,IES)多能耦合利用和低碳化,文中提出含光热模块的先进绝热压缩空气(advanced adiabatic compressed air energy storage,AA-CAES)储能电站和电转气(power to gas,P2G)与储液式碳捕集(carbon capture system,CCS)协同运行的IES低碳优化调度模型。论文建立光热模块与AA-CAES电站耦合模型并将其引入至含P2G-CCS的IES中;提出风-光-碳捕集电厂联合供能碳捕集设备运行策略及碳交易模型,以净碳排放量、综合成本最小化为目标函数构建IES低碳优化调度模型。通过算例对比,验证了含光热模块AA-CAES储能电站与P2G-CCS协同运行能够进一步降低总成本,减少碳排放。展开更多
Friction stir welding(FSW)is a relatively new welding technique that has significant advantages compared to the fusion welding techniques in joining non weld able alloys by fusion,such as aluminum alloys.Three FSW sea...Friction stir welding(FSW)is a relatively new welding technique that has significant advantages compared to the fusion welding techniques in joining non weld able alloys by fusion,such as aluminum alloys.Three FSW seams of AA6061-T6 plates were made us-ing different FSW parameters.The structure of the FSW seams was investigated using X-ray diffraction(XRD),scanning electron mi-croscope(SEM)and non destructive testing(NDT)techniques and their hardness was also measured.The dominated phase in the AA6061-T6 alloy and the FSW seams was theα-Al.The FSW seam had lower content of the secondary phases than the AA6061-T6 al-loy.The hardness of the FSW seams was decreased by about 30%compared to the AA6061-T6 alloy.The temperature distributions in the weld seams were also studied experimentally and numerically modeled and the results were in a good agreement.展开更多
文摘Helsmoortel-Van der Aa综合征(HVDAS)是一种罕见的神经发育障碍性疾病,主要由活性依赖性神经保护蛋白(ADNP)基因突变引起,是最常见的孤独症谱系障碍(ASD)单基因病因之一。本文分析2024年就诊于海口市妇幼保健院的1例患儿,男,3岁10个月,因“运动、语言发育迟缓2年余,社交障碍1年余”入院,检查发现患儿存在孤独症谱系障碍、全面发育迟缓、特殊面容、矮小、脑积水等临床表现,基因检测发现患儿携带ADNP基因杂合突变{NM_001282531.3(ADNP):c.2189(exon6)delG[p.(Arg730Glnfs3)]},其父母及妹妹均未携带该突变。总结临床资料并结合文献复习,ADNP基因在染色质重塑和神经发育障碍中发挥重要作用,ADNP基因突变可累及多系统。此例HVDAS具有典型临床表现,并拓宽了脑积水的表型谱,为此类基因变异的遗传咨询以及临床医师的早期识别提供了参考依据。
文摘Helsmoortel-Van der Aa综合征(HVDAS),是一种罕见的神经发育障碍疾病,主要由功能活性依赖神经保护蛋白(ADNP)基因突变引起。该文回顾性分析了就诊于济宁医学院附属医院的1例HVDAS患儿,系1岁3个月男性幼儿,其存在运动、语言、智力发育障碍及孤独症样刻板行为,有行为问题,外貌畸形,视力异常,反复呼吸道感染等临床表现,基因检测发现患儿携带ADNP基因杂合突变c.2157C>A(p.Tyr719Ter),其父母均未携带该突变。因此,提示临床工作者要加强对该疾病的认识,做到早发现、早治疗,以积极干预,从而提高患儿的生活质量。
文摘本文报道1例ADNP基因新发杂合变异Helsmoortel-Van der Aa综合征病例。该患儿为1岁6月男童,存在有特殊面容、智力发育低下、运动、语言发育迟缓、小手等临床表现,基因分析显示患儿ADNP基因有一个新发变异位点C.460_461insAA(p.P154Qfs*7),为移码突变。Helsmoortel-Van der Aa综合征可累及多系统,基因检测有助于诊断。
文摘“双碳”目标背景下,为实现综合能源系统(integrated energy systems,IES)多能耦合利用和低碳化,文中提出含光热模块的先进绝热压缩空气(advanced adiabatic compressed air energy storage,AA-CAES)储能电站和电转气(power to gas,P2G)与储液式碳捕集(carbon capture system,CCS)协同运行的IES低碳优化调度模型。论文建立光热模块与AA-CAES电站耦合模型并将其引入至含P2G-CCS的IES中;提出风-光-碳捕集电厂联合供能碳捕集设备运行策略及碳交易模型,以净碳排放量、综合成本最小化为目标函数构建IES低碳优化调度模型。通过算例对比,验证了含光热模块AA-CAES储能电站与P2G-CCS协同运行能够进一步降低总成本,减少碳排放。
文摘Friction stir welding(FSW)is a relatively new welding technique that has significant advantages compared to the fusion welding techniques in joining non weld able alloys by fusion,such as aluminum alloys.Three FSW seams of AA6061-T6 plates were made us-ing different FSW parameters.The structure of the FSW seams was investigated using X-ray diffraction(XRD),scanning electron mi-croscope(SEM)and non destructive testing(NDT)techniques and their hardness was also measured.The dominated phase in the AA6061-T6 alloy and the FSW seams was theα-Al.The FSW seam had lower content of the secondary phases than the AA6061-T6 al-loy.The hardness of the FSW seams was decreased by about 30%compared to the AA6061-T6 alloy.The temperature distributions in the weld seams were also studied experimentally and numerically modeled and the results were in a good agreement.
