SGMS2的致病性杂合突变会导致一种罕见的单基因骨质疏松症,称为颅骨环形病变伴骨脆性增加(calvarial doughnut lesions with bone fragility,CDL),伴或不伴有脊椎干骺端发育不良。SGMS2编码的鞘磷脂合酶2(sphingomyelin synthase 2,SMS2...SGMS2的致病性杂合突变会导致一种罕见的单基因骨质疏松症,称为颅骨环形病变伴骨脆性增加(calvarial doughnut lesions with bone fragility,CDL),伴或不伴有脊椎干骺端发育不良。SGMS2编码的鞘磷脂合酶2(sphingomyelin synthase 2,SMS2)参与鞘磷脂(sphingomyelin,SM)产生,SGMS2突变导致骨骼发育异常,提示SM代谢可能在骨代谢中发挥重要的作用。本文报告1例颅骨环形病变伴骨质疏松性骨折患者,使用全外显子组序检测发现其存在SGMS2基因c.148C>T(p.Arg50*)杂合突变。展开更多
骨质疏松在全球具有较高的发病率,有一定的致死、致残率,是全球范围内严重的公共卫生问题。颅骨甜甜圈病变伴骨脆性伴或不伴有脊柱骨骺发育不良(calvarial doughnut lesions with bone fragility,CDL)是一种罕见的常染色体显性遗传骨骼...骨质疏松在全球具有较高的发病率,有一定的致死、致残率,是全球范围内严重的公共卫生问题。颅骨甜甜圈病变伴骨脆性伴或不伴有脊柱骨骺发育不良(calvarial doughnut lesions with bone fragility,CDL)是一种罕见的常染色体显性遗传骨骼疾病,由SGMS2基因杂合突变引起,主要表现为儿童期骨质疏松伴颅骨硬化。目前我国尚无关于本病的报道,现将我院收治的1例CDL患者的病例资料进行总结报道,并对既往关于本病发病机制及疾病诊治相关的文献进行复习探讨。展开更多
Railway accidents,particularly serious derailments,can lead to catastrophic consequences.Therefore,it is essential to prevent derailment escalation to reduce the likelihood of severe derailments.Train post-derailment ...Railway accidents,particularly serious derailments,can lead to catastrophic consequences.Therefore,it is essential to prevent derailment escalation to reduce the likelihood of severe derailments.Train post-derailment behaviours and containment methods play a critical role in preventing derailment escalation and providing passive safety protection and accident prevention in the event of a derailment.However,despite the increasing attention on this field from academia and industry in recent years,there is a lack of systematic exploration and summarization of emerging applications and containment methods in train post-derailment research.For this reason,this paper presents a comprehensive review of existing studies on train post-derailment behaviours,encompassing various topics such as post-derailment contact-impact models,dynamic modelling and simulation techniques,and the primary factors influencing post-derailment behaviours.Significantly,this review introduces and elucidates substitute guidance mechanisms(SGMs),which serve as railway-specific passive safety protection and accident prevention measures.The various types of SGMs are depicted,and their ongoing developments and applications are explored in depth.The review additionally points out several unresolved challenges including the adverse effects of SGMs,and proposes future research directions to advance the theoretical understanding and practical application of train post-derailment behaviours and containment methods.This review seeks to be a valuable reference for railway industry professionals in preventing catastrophic derailment consequences through post-derailment containment methods.展开更多
文摘SGMS2的致病性杂合突变会导致一种罕见的单基因骨质疏松症,称为颅骨环形病变伴骨脆性增加(calvarial doughnut lesions with bone fragility,CDL),伴或不伴有脊椎干骺端发育不良。SGMS2编码的鞘磷脂合酶2(sphingomyelin synthase 2,SMS2)参与鞘磷脂(sphingomyelin,SM)产生,SGMS2突变导致骨骼发育异常,提示SM代谢可能在骨代谢中发挥重要的作用。本文报告1例颅骨环形病变伴骨质疏松性骨折患者,使用全外显子组序检测发现其存在SGMS2基因c.148C>T(p.Arg50*)杂合突变。
文摘骨质疏松在全球具有较高的发病率,有一定的致死、致残率,是全球范围内严重的公共卫生问题。颅骨甜甜圈病变伴骨脆性伴或不伴有脊柱骨骺发育不良(calvarial doughnut lesions with bone fragility,CDL)是一种罕见的常染色体显性遗传骨骼疾病,由SGMS2基因杂合突变引起,主要表现为儿童期骨质疏松伴颅骨硬化。目前我国尚无关于本病的报道,现将我院收治的1例CDL患者的病例资料进行总结报道,并对既往关于本病发病机制及疾病诊治相关的文献进行复习探讨。
基金support from the National Natural Science Foundation of China (No.52172407 and No.U19A20110)the Natural Science Foundation of Sichuan Province (No.2022NSFSC0415).
文摘Railway accidents,particularly serious derailments,can lead to catastrophic consequences.Therefore,it is essential to prevent derailment escalation to reduce the likelihood of severe derailments.Train post-derailment behaviours and containment methods play a critical role in preventing derailment escalation and providing passive safety protection and accident prevention in the event of a derailment.However,despite the increasing attention on this field from academia and industry in recent years,there is a lack of systematic exploration and summarization of emerging applications and containment methods in train post-derailment research.For this reason,this paper presents a comprehensive review of existing studies on train post-derailment behaviours,encompassing various topics such as post-derailment contact-impact models,dynamic modelling and simulation techniques,and the primary factors influencing post-derailment behaviours.Significantly,this review introduces and elucidates substitute guidance mechanisms(SGMs),which serve as railway-specific passive safety protection and accident prevention measures.The various types of SGMs are depicted,and their ongoing developments and applications are explored in depth.The review additionally points out several unresolved challenges including the adverse effects of SGMs,and proposes future research directions to advance the theoretical understanding and practical application of train post-derailment behaviours and containment methods.This review seeks to be a valuable reference for railway industry professionals in preventing catastrophic derailment consequences through post-derailment containment methods.
