新生儿呼吸窘迫综合征ABCA3基因遗传缺陷的研究

Detection of genetic defect withinABCA3 from newborns with respiratory distress syndrome

目的 探讨动脉自旋标记（arterial spin labeling,ASL） MR灌注技术在新生儿缺氧缺血性脑病（HIE）诊断中的应用价值.方法 选用7例无窒息病史以及无其他神经系统疾病的足月新生儿作为正常对照组,将33例有窒息缺氧病史,临床诊断为HIE的足月新生儿按照临床诊断标准分为轻度组（19例）、中度组（6例）和重度组（8例）.正常对照组及HIE病例组均行常规横断位MRI（T1FLAIR、T2WI、T2FLAIR）、1 HMRS及ASL（FAIR序列）扫描.经ADW 4.3工作站Functool软件处理后,观察ASL灌注图像,并对病例组和正常对照组的感兴趣区（双侧灰质、白质、基底节区）进行信号强度值定量测量,求其平均值并进行组间比较.结果 正常对照组及病例组均获得了良好的ASL灌注图像.正常对照组灰质、白质及基底节区平均信号强度分别为125.34±11.76、73.42±11.67和173.65±15.49,差异有统计学意义（P＜0.05）.HIE病例组灰质、白质及基底节区平均信号强度值为153.47±11.72、71.35±10.37和217.13±12.51,灰质及基底节区平均信号强度值与正常对照组差异具有统计学意义（P＜0.05）,病例组白质平均信号强度值与对照组（两组信号强度值分别为73.42±11.67和71.35±10.37）差异无统计学意义（P＞0.05）.结论 ASL灌注技术能够有效地检测HIE患者脑组织异常灌注情况,有助于判断患者脑损伤的程度,并为临床诊疗提供有力依据.

Objectives To evaluate the diagnostic value of arterial spin labeling （ASL） technology in newborns with hypoxic ischemic encephalopathy （HIE）. Method Seven full-term newborn infants without any history of asphyxia and other nervous system diseases were selected as the control and 33 fullterm newborn infants were assigned into HIE group.The patients in HIE group were further divided into three subgroups （ 19 cases of mild,6 cases of moderate and 8 cases of severe HIE） based on their clinical diagnosis. The control group and HIE group were examined with GE Signa EXCITE HD 3.0Tsuperconducting MRI scanner with a head phase array coil.Both groups were scanned with conventional axial MRI （T1 FLAIR,T2WI and T2FLAIR）,1HMRS （PRESS sequence） and ASL （FAIR）.Original images of 1HMRS and ASL were processed by Functool software of ADW 4.3 workstation.ASL perfusion images were observed and the signal intensity values of the region of interest （bilateral gray,white matter and basal ganglia） of the two groups were quantitatively measured,and mean value were calculated and compared between groups. Statistical analysis was performed with SPSS 13.0 software,and statistically significant difference was set at P 〈 0.05.Result The perfusion images of two groups were obtained perfectly.The signal intensity values of bilateral gray,white matter and basal ganglia of control group were 125.34 ±11.76,73.42 ± 11.67 and 173.65 ± 15.49,respectively and there was a statistically significant difference between the different areas.The signal intensity values of bilateral gray,white matter and basal ganglia of HIE group were 153.47 ± 11.72,71.35 ± 10.37 and 217.13 ± 12.51,respectively. There.was a statistically significant difference （P 〈 0.05 ） in the average signal intensity value of gray matter and basal ganglia,but there were no statistically significant difference （ P 〉 0.05 ） in white matter between the two groups. Conclusion ASL Perfusion technique can assess HIE comprehensively and accurately.Furthermore,it can evaluate the brain damage of hypoxic ischemia.The results provide a strong basis for clinical treatment.