Congenital heart disease affects local gyrification in 22q11.2 deletion syndrome
Congenital heart disease affects local gyrification in 22q11.2 deletion syndrome
复制标题
先天性心脏病影响22q11.2缺失综合征的局部回旋
DOI：
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发表时间：
2009
影响因子：
3.8
通讯作者：
S. Eliez
中科院分区：
文献类型：
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作者：
M. Schaer;B. Glaser;M. Cuadra;M. Debbané;J. Thiran;S. Eliez
22q11.2缺失综合征（22q11.2DS）是一种与认知和学习障碍相关的常见遗传疾病。在这项研究中，我们应用了一种三维方法，对44名患有22q11.2DS的儿童、青少年和年轻人的成像数据进行了皮质表面数千个点的脑回量化。（17名男性，27名女性;平均年龄17岁2个月[SD 9岁1个月]，范围6- 37岁）和53名健康受试者（21例男性，32例女性;平均年龄15岁4个月[SD 8岁6个月];范围6- 40岁）。观察到几组减少的脑回，进一步证实了该综合征儿童的大脑改变模式。22q11.2DS内的比较显示了先天性心脏病（CHD）对皮质回旋的影响，与非CHD患者相比，CHD患者的顶颞枕交界处的回旋减少。脑回化的减少可能类似于轻度的多微脑回，提示早期异常神经元增殖或迁移，并为22q11.2DS中血流动力学因素对脑发育的影响提供支持。研究结果也揭示了其他CHD人群中获得性脑损伤的病理生理学。
22q11.2 deletion syndrome (22q11.2DS) is a common genetic condition associated with cognitive and learning impairments. In this study, we applied a three‐dimensional method for quantifying gyrification at thousands of points over the cortical surface to imaging data from 44 children, adolescents, and young adults with 22q11.2DS (17 males, 27 females; mean age 17y 2mo [SD 9y 1mo], range 6–37y), and 53 healthy participants (21 males, 32 females; mean age 15y 4mo [SD 8y 6mo]; range 6–40y). Several clusters of reduced gyrification were observed, further substantiating the pattern of cerebral alterations presented by children with the syndrome. Comparisons within 22q11.2DS demonstrated an effect of congenital heart disease (CHD) on cortical gyrification, with reduced gyrification at the parieto‐temporo‐occipital junction in patients with CHD, as compared with patients without CHD. Reductions in gyrification can resemble mild polymicrogyria, suggesting early abnormal neuronal proliferation or migration and providing support for an effect of hemodynamic factors on brain development in 22q11.2DS. The results also shed light on the pathophysiology of acquired brain injury in other populations with CHD.
与左心发育不全综合征相关的先天性脑异常。
影响因子：
8
作者：
Glauser,TA;Rorke,LB;Weinberg,PM;Clancy,RR
通讯作者：
Clancy,RR
影响因子：
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作者：
D. McDonald-McGinn;R. Kirschner;E. Goldmuntz;K. Sullivan;P. Eicher;M. Gerdes;E. Moss;C. Solot;Paul P. Wang;I. Jacobs;S. Handler;C. Knightly;K. Heher;Michael D. Wilson;J. Ming;K. Grace;D. Driscoll;P. Pasquariello;P. Randall;D. Larossa;B. Emanuel;E. Zackai
通讯作者：
D. McDonald-McGinn;R. Kirschner;E. Goldmuntz;K. Sullivan;P. Eicher;M. Gerdes;E. Moss;C. Solot;Paul P. Wang;I. Jacobs;S. Handler;C. Knightly;K. Heher;Michael D. Wilson;J. Ming;K. Grace;D. Driscoll;P. Pasquariello;P. Randall;D. Larossa;B. Emanuel;E. Zackai
DOI：
10.1002/(sici)1096-8628(19970919)74:5
发表时间：
1997-09-19
期刊：
AMERICAN JOURNAL OF MEDICAL GENETICS
影响因子：
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作者：
Bingham, PM;Zimmerman, RA;Zackai, E
通讯作者：
Zackai, E