1.Effect of propofol used for painless enteroscope on cognitive function
Quan LI ; Qinxiang LIU ; Ju GAO ; Bing SHAO ; Weixun FENG ; Kaihua SU ; Tingying QIN ; Fengling LIANG ; Lingyin XIE
Journal of Chinese Physician 2010;(z1):45-48
Objective To study the effect of propofol used for outpatient painless enteroscope on cognitive function.Methods One hundred and twenty ASAⅠ~Ⅱpatients scheduled for enteroscope were randomly divided into three groups .Propofol was given 1.5mg/kg(groupⅠ), 2mg /kg (group Ⅱ) or 2.5 mg/kg ( group Ⅲ) intravenously .The enteroscope was inserted when patient showed unconsciousness and no reaction to dictation .SpO2 was kept above 95%96% throughout enteroscope .All patients received neurobehavioral cognitive status examination ( NCSE ) and mini-mental state examination ( MMSE ) test 1 hour before enteroscope examination and 5 minutes,30 minutes, 1 hour after enteroscope examination was o-ver and must finish it within 15 min.The enteroscope examination time , vital signs, analgesia effects and intraoperative awareness were record .Results The ability of memory and calculation at 5 minutes after en-teroscope examination showed a statistical difference between group Ⅰ and ⅡorⅢ( P <0.05),there was no significant difference between in group II and in group Ⅲ( P >0.05 ) , The ability of memory and calcu-lation at 30 minutes, 1 hour after enteroscope examination there was no significant difference in three groups ( P >0.05 ) .In all patients ,the MMSE scores at 5 minutes after enteroscope examination were significant-ly lower than the baseline value ( P <0.05).The MMSE scores at 30 minutes, 1 hour after enteroscope examination in Ⅲgroup patients were significantly lower than the baseline value ( P <0.05 ) .The MMSE scores at 30 minutes, 1 hour after enteroscope examination in I group patients were significantly higher than that inⅡor Ⅲgroup( P <0.05).The MMSE scores at 30 minutes, 1 hour after enteroscope examination there was no significant difference between in group II and in group Ⅲ( P >0.05 ) .The NCSE and MMSE scores at 3hour, 12 hour after enteroscope examination there was no significant difference between in group I and II or Ⅲ( P >0.05).Conclusion Propofol 1.5mg/kg used for painless enteroscope examination has no effect on cognitive function .MMSE and NCSE are suitable for evaluation of outpatient's cognitive func-tion.
2.Prenatal genetic diagnosis of the fetuses with isolated corpus callosum abnormality
Qin SHE ; Li ZHEN ; Fang FU ; Tingying LEI ; Lushan LI ; Ru LI ; Dan WANG ; Yongling ZHANG ; Xiangyi JING ; Cuixing YI ; Huizhu ZHONG ; Weihe TAN ; Fuguang LI ; Can LIAO
Chinese Journal of Obstetrics and Gynecology 2022;57(9):671-677
Objective:To explore the application value of chromosome karyotype analysis, chromosomal microarray analysis (CMA) and whole exome sequencing (WES) in prenatal diagnosis of isolated corpus callosum abnormality (CCA) fetus.Methods:Fetuses diagnosed with isolated CCA by ultrasound and MRI and receiving invasive prenatal diagnosis in Guangzhou Women and Children′s Medical Center and Qingyuan People′s Hospital from January 2010 to April 2021 were selected. Karyotype analysis and/or CMA [or copy number variation sequencing (CNV-seq)] were performed on all fetal samples, and WES was performed on fetal samples and their parents whose karyotype analysis and/or CMA (or CNV-seq) results were not abnormal.Results:Among 65 fetuses with isolated CCA, 38 cases underwent karyotype analysis, and 3 cases were detected with abnormal karyotypes, with a detection rate of 8% (3/38). A total of 49 fetuses with isolated CCA underwent CMA (or CNV-seq) detection, and 6 cases of pathogenic CNV were detected, the detection rate was 12% (6/49). Among them, the karyotype analysis results were abnormal, and the detection rate of further CMA detection was 1/1. The karyotype results were normal, and the detection rate of further CMA (or CNV-seq) detection was 14% (3/21). The detection rate of CMA as the first-line detection technique was 7% (2/27). A total of 25 fetuses with isolated CCA with negative results of karyotyping and/or CMA were tested by WES, and 9 cases (36%, 9/25) were detected with pathogenic genes. The gradient genetic diagnosis of chromosomal karyotyping, CMA and WES resulted in a definite genetic diagnosis of 26% (17/65) of isolated CCA fetuses.Conclusions:Prenatal genetic diagnosis of isolated CCA fetuses is of great clinical significance. The detection rate of CMA is higher than that of traditional karyotyping. CMA detection could be used as a first-line detection technique for fetuses with isolated CCA. WES could increase the pathogenicity detection rate of fetuses with isolated CCA when karyotype analysis and/or CMA test results are negative.