The first branchial arch malformation(FBAM) is a rare congenital defect associated with anomalous development of the first and second branchial arches.Cause of FBAM still remains unknown,and is thought in most cases t...The first branchial arch malformation(FBAM) is a rare congenital defect associated with anomalous development of the first and second branchial arches.Cause of FBAM still remains unknown,and is thought in most cases to be multifactorial,involving both genetic and enviromental factors.Dlx2 as a member of the Dlx homeobox gene family,plays a crucial role in the development of the first branchial arch.The tissues regulated mainly by Dlx2 are coincident with the tissues mainly involved in FBAM.Dlx2 over-expression generated by electroporation transfection can disturb the migration and differentiation of cranial neural crest cells(CNCCs),which migrate to the branchial arches and in turn give rise to much of the facial skeleton and connective tissues.Furthermore,Dlx2 over-expression can be found in the first branchial arch spontaneous mutant mice.So we hypothesize that Dlx2 over-expression mutation causes FBAM due to an increase in cell-cell adhesion and inhibiting the migration of CNCC to the first branchial arch in the early stage,or migrating to an incorrect position and can't differentiate into normal tissues.What an exact role of Dlx2 over-expression in FBAM remains to be investigated and Dlx2 over-expression transgenic mouse will be a nice model for further research in FBAM.展开更多
目的:通过观察及评价第一、二鳃弓综合征(first and second branchial arch syndrome,FSBAS)患者头颅CT的腮腺影像,分析FSBAS患侧腮腺的发育状况。方法:回顾2013年1月—2018年11月在北京大学口腔医院口腔颌面外科接受治疗的140例第一、...目的:通过观察及评价第一、二鳃弓综合征(first and second branchial arch syndrome,FSBAS)患者头颅CT的腮腺影像,分析FSBAS患侧腮腺的发育状况。方法:回顾2013年1月—2018年11月在北京大学口腔医院口腔颌面外科接受治疗的140例第一、二鳃弓综合征病例,解读并整理放射科评价腮腺的CT报告结果,将其归纳为3类表现形式:第Ⅰ类—与对侧相比,腮腺大致对称;第Ⅱ类—患侧腮腺明显小于对侧(发育不良);第Ⅲ类—患侧未见腮腺影像(缺如)。对3种类型的构成比进行分析。结果:140例FSBAS患者中,3类腮腺表现的构成比为第Ⅰ类32例,占22.9%;第Ⅱ类22例,占15.7%;第Ⅲ类86例,占61.4%。结论:第一、二鳃弓综合征的腮腺表型中,患侧腮腺缺如(或发育不良)占绝大多数。腮腺缺如或许可作为第一、二鳃弓综合征的主要表型之一。展开更多
文摘The first branchial arch malformation(FBAM) is a rare congenital defect associated with anomalous development of the first and second branchial arches.Cause of FBAM still remains unknown,and is thought in most cases to be multifactorial,involving both genetic and enviromental factors.Dlx2 as a member of the Dlx homeobox gene family,plays a crucial role in the development of the first branchial arch.The tissues regulated mainly by Dlx2 are coincident with the tissues mainly involved in FBAM.Dlx2 over-expression generated by electroporation transfection can disturb the migration and differentiation of cranial neural crest cells(CNCCs),which migrate to the branchial arches and in turn give rise to much of the facial skeleton and connective tissues.Furthermore,Dlx2 over-expression can be found in the first branchial arch spontaneous mutant mice.So we hypothesize that Dlx2 over-expression mutation causes FBAM due to an increase in cell-cell adhesion and inhibiting the migration of CNCC to the first branchial arch in the early stage,or migrating to an incorrect position and can't differentiate into normal tissues.What an exact role of Dlx2 over-expression in FBAM remains to be investigated and Dlx2 over-expression transgenic mouse will be a nice model for further research in FBAM.
文摘目的:通过观察及评价第一、二鳃弓综合征(first and second branchial arch syndrome,FSBAS)患者头颅CT的腮腺影像,分析FSBAS患侧腮腺的发育状况。方法:回顾2013年1月—2018年11月在北京大学口腔医院口腔颌面外科接受治疗的140例第一、二鳃弓综合征病例,解读并整理放射科评价腮腺的CT报告结果,将其归纳为3类表现形式:第Ⅰ类—与对侧相比,腮腺大致对称;第Ⅱ类—患侧腮腺明显小于对侧(发育不良);第Ⅲ类—患侧未见腮腺影像(缺如)。对3种类型的构成比进行分析。结果:140例FSBAS患者中,3类腮腺表现的构成比为第Ⅰ类32例,占22.9%;第Ⅱ类22例,占15.7%;第Ⅲ类86例,占61.4%。结论:第一、二鳃弓综合征的腮腺表型中,患侧腮腺缺如(或发育不良)占绝大多数。腮腺缺如或许可作为第一、二鳃弓综合征的主要表型之一。
