Clinical value of genome-wide chromosome microarray technique in diagnosis of fetal cerebral ventriculomegaly / 南方医科大学学报

<p><b>OBJECTIVE</b>To investigate the clinical value of gnome-wide chromosome microarray (CMA) technique in genetic etiological diagnosis of fetal cerebral ventriculomegaly.</p><p><b>METHODS</b>A retrospective analysis was conducted in 109 women with singleton pregnancy, who were admitted in Nanfang Hospital with the diagnosis of cerebral ventriculomegaly in the fetuses by ultrasound between January, 2014 and December, 2016. Routine karyotype analysis and chromosome microarray analysis were performed to identify the chromosomal abnormalities in the fetuses.</p><p><b>RESULTS</b>Karyotype analysis detected chromosomal abnormalities at a rate of 12.84% in these fetuses, significantly lower than the rate of 26.60% with CMA technique (P=0.004); the combined detection rate of the two techniques was 28.44%. In 17 cases, karyotype analysis yielded normal results while CMA microarray showed abnormalities with an extra abnormal detection rate of 15.60%. Among the 17 fetuses with chromosomal abnormalities, 6 had micro-deletion, 9 had micro-duplication, 1 had both micro-deletion and micro-duplication, and 1 had heterozygous loss of single parent diploid.</p><p><b>CONCLUSION</b>CMA technique can be used to detect abnormal chromosomal copy numbers in fetuses with cerebral ventriculomegaly to increase the detection rate of chromosomal abnormalities and facilitate prenatal consultation and prognostic evaluation.</p>

Correlation analysis of fetal middle cerebral artery peak systolic velocity, cardiothoracic ratio and crown-rump length in early pregnancy / 南方医科大学学报

<p><b>OBJECTIVE</b>To explore the pattern of variations in middle cerebral artery peak systolic velocity (MCA PSV) and cardiothoracic ratio (CTR) during early pregnancy, establish their reference ranges and explore their correlation with the crown-rump length (CRL).</p><p><b>METHODS</b>A total of 522 pregnant women with normal findings in antenatal examinations underwent routine color Doppler ultrasound examination to collect the data of MCA PSV, CTR and CRL. The reference ranges of MCA PSV and CTR for different CRL levels were established, and the correlation of MCA PSV and CTR with CRL was analyzed.</p><p><b>RESULTS</b>During the first trimester, MCA PSV and CRL showed a moderate positive correlation with a correlation coefficient of 0.426 (P<0.001), while CTR and CRL showed no significant correlation (0.168, P<0.001). The reference range of MCA PSV was 14.35 (14.08-14.62) cm/s and that of CTR was 0.34 (0.33-0.34) during early pregnancy.</p><p><b>CONCLUSION</b>Color Doppler ultrasound is a safe and feasible modality to assess fetal MCA PSV and CTR for detecting fetal growth abnormalities in early pregnancy. The established reference ranges of MCA PSV and CTR offer a clinical theoretical basis for detecting α-thalassemia in early pregnancy.</p>

Schisandrin B protects against nephrotoxicity induced by cisplatin in HK-2 cells via Nrf2-ARE activation / 药学学报

This study is to investigate the protection effect of schisandrin B (Sch B) against oxidation stress of HK-2 cells induced by cisplatin and the mechanisms involved. HK-2 cells were cultured and divided into different groups: solvent control group, cisplatin exposure group, positive group, Sch B treatment group. Cell viability and toxicity were evaluated by MTT and LDH assay. GSH level and SOD enzymes activities were also measured. DCFH-DA as fluorescence probe was used to detect ROS level by fluorescence microplate reader. Nrf2 translocation was detected by Western blotting. Real time Q-PCR was used to detect expressions of NQO1, HO-1 and GCLC mRNA level. The results showed that Sch B could significantly inhibit the decline of cell viability induced by cisplatin treatment (P < 0.05) and the protective effect was in a dose dependent manner. Furthermore, Sch B treatment significantly inhibited the increase of ROS level induced by cisplatin and reversed the decrease of GSH level (P < 0.05). When Sch B concentration was up to 5 micromol x L(-1), SOD enzyme activities were also enhanced significantly compared with that of the cisplatin group (P < 0.05). It was shown that Sch B could cause nuclear accumulation of Nrf2 in association with downstream activation of Nrf2 mediated oxidative response genes such as GCLC, NQO1 and HO-1. These results suggested Sch B could protect against the oxidative damage of HK-2 cells induced by cisplatin via the activation of Nrf2/ARE signal pathway.

Correlation of fetal chromosomal abnormalities to prenatal ultrasound features / 南方医科大学学报

<p><b>OBJECTIVE</b>To investigate the correlation between fetal chromosomal abnormalities and the characteristic features of prenatal ultrasound findings.</p><p><b>METHODS</b>A total of 510 cases were underwent chromosome examination by amniotic fluid or cord blood analysis to identify fetal chromosomal abnormalities. The correlation between the abnormalities and the characteristics of the prenatal ultrasound findings was analyzed.</p><p><b>RESULTS</b>Fifty-three cases of abnormal karyotypes were detected with a positivity rate of 10.2%. Of these cases, 32 cases had chromosome number abnormalities, including 15 with 21-trisomy, 11 with 18-trisomy, 2 with 13-trisomy, 2 with 45, XO monomer and 2 with 92, XXXX tetraploid. Chromosome structural abnormalities were found in 21 cases, including 4 with translocation, 3 with insertion, 6 with inversion, 4 with deletion and 4 with derivation. Prenatal ultrasound showed obvious structural abnormalities in 22 cases (41.5%), structural malformation with ultrasonographic soft markers in 18 cases (34.0%), and separate ultrasonographic soft markers in 8 cases (15.1%).</p><p><b>CONCLUSION</b>Prenatal ultrasound fetal abnormalities and chromosome abnormalities are closely related. Prenatal ultrasound of fetal chromosomal abnormalities usually presents with a variety of significant structural abnormalities. A greater number of malformations is associated with a greater risk of chromosomal abnormalities and increased occurrence of ultrasonographic soft markers.</p>

Ultrasonic study of deep-vein diameter and blood flow spectrum changes in full-term pregnant women / 南方医科大学学报

<p><b>OBJECTIVE</b>To explore the changes in lower limb deep vein diameters, blood flow velocity and blood biochemistry in full-term pregnant women for early diagnosis and treatment of prothrombotic state.</p><p><b>METHODS</b>One hundred and twenty-eight full-term pregnant women at high risk of thrombosis (Group A), 61 healthy full-term pregnant women (Group B), and 42 healthy non-pregnant women (Group C) underwent high-resolution color Doppler ultrasound (CDU) for examining the deep veins of the lower limbs. The hematological indexes such as D-D, PLT, HGB, HCT, TT, APTT, PT, and FbgC were also observed in these 3 groups.</p><p><b>RESULTS</b>Compared to Group B, the women in group A showed significantly increased diameters of the common femoral veins (CFV) and left superficial femoral vein (SFV), HCT and DD, but with significantly decreased peak blood flow in the bilateral popliteal veins (POPV) (P<0.01) and increased left POPV diameter (P=0.034). Compared to those in group C, the diameters of the bilateral CFVs, SFVs, POPV, and posterior tibial veins (PTVs) were significantly increased, but the peak blood flow in the bilateral CFVs and POPVs were significantly reduced in groups A and B; the PLT, HGB, HCT, DD, TT, APTT, PT, and FbgC also showed significant changes in groups A and B (P<0.01).</p><p><b>CONCLUSION</b>The full-term pregnant women are at higher risk of prothrombotic state than non-pregnant women, and the full-term pregnant women with the high risk factors for thrombosis are more likely to have prothrombotic state than healthy full-term pregnant women. CDU examination of the lower limb deep veins can be of value in the diagnosis of prothrombotic state.</p>

Denaturing high-performance liquid chromatography for screening antithrombin III gene mutation and polymorphisms in patients with cerebral venous thrombosis / 南方医科大学学报

<p><b>OBJECTIVE</b>To identify antithrombin III (AT-III) gene mutation and polymorphisms in pregnant women and parturients with cerebral venous thrombosis (CVT) using denaturing high-performance liquid chromatography (DHPLC).</p><p><b>METHODS</b>The genomic DNA was extracted from the blood samples of 50 pregnant women and parturients with CVT and 52 matched healthy women for molecular analysis using a PCR/DHPLC assay followed by DNA sequence analysis. Ten primer pairs were designed for amplifying the AT- III promoter region and exons 1-6 including the exon/intron boundaries. A rapid screening assay based on DHPLC was established to screen the mutation and polymorphisms of AT- III gene.</p><p><b>RESULTS</b>Six abnormal peaks were detected in 40 of the patients by DHPLC. Direct DNA sequencing was performed on representative samples detected by DHPLC profiling. One pathogenic heterozygous G13328A missense mutation in exon 6, and a novel silent mutation in exon 4+243 G>A were identified. Six single nucleotide polymorphism (SNP) sites were found, including 4 previously reported ones in the SNP library and two were novel SNP sites. An abnormal peak was detected in the control group by DHPLC.</p><p><b>CONCLUSION</b>DHPLC allows automated and rapid high-throughput detection of AT- III gene mutation and polymorphisms in the clinical setting and prenatal diagnosis. Our findings suggested that AT- III gene mutation, as well as its polymorphisms, contributes to the occurrence of CVT in pregnant women and parturients.</p>

Lower limb deep vein ultrasonography and blood biochemistry in women after full-term delivery / 南方医科大学学报

<p><b>OBJECTIVE</b>To observe the postpartum changes in lower limb deep vein ultrasonography and blood biochemistry in women 2-5 days after full-term delivery.</p><p><b>METHODS</b>A total of 212 women at high risk of thrombosis underwent high-resolution color Doppler ultrasound (CDU) of the lower limb deep veins 2-5 days after full-term delivery (Group A). Sixty-one healthy women 2-5 days after full-term delivery (Group B) and 42 healthy non-pregnant women (Group C) were recruited as the controls. The hematological indexes including the D-dimers (D-D), platelet (PLT), hemoglobin (HGB), hematocrit (HCT), thrombin time (TT), activated partial thromboplastin time (APTT), prothrombin time (PT) and fibrinogen (Fbg) were also determined in these 3 groups.</p><p><b>RESULTS</b>Compared to Group B, the women in group A showed significantly increased diameters and D-D value of the common femoral veins (FV), common superficial femoral veins (SFV) and common popliteal veins (POV) (P<0.01), with decreased peak blood flow in the bilateral POVs (P<0.05). Compared to those in Groups C, the diameters of the bilateral FVs, SFVs, POVs, and posterior tibial veins (PTVs) were significantly increased, but the peak blood flow in the bilateral FVs, SFVs, and POVs were significantly reduced in groups A and B; the PLT, HGB, HCT, DD, TT, APTT, PT, and Fbg also showed significant changes in groups A and B (P<0.01).</p><p><b>CONCLUSIONS</b>The women 2-5 days after full-term delivery are at high risk of prethrombotic state in comparison with non-pregnant women, and the presence of high-risk factors for thrombosis increases the likeliness of prothrombotic state in these postpartum women. CDU examination of the lower limb deep veins can be of value in the diagnosis of prethrombotic state.</p>

Clinical study of Osaka formula and improved multiparameter ultrasonic measurement for fetal weight estimation / 南方医科大学学报

<p><b>OBJECTIVE</b>To analyze the factors affecting the accuracy of Osaka formula multiparameter ultrasound-based fetal mass estimation, thereby establishing new formulas to improve the accuracy of the estimation.</p><p><b>METHODS</b>A retrospective review was conducted among 519 healthy women with singleton pregnancy. Three days before the delivery (between 37 and 42 weeks' gestation), ultrasonic measurement of the fetal weight and other indices of the fetus was routinely performed. Correlation and multiple linear stepwise regression analysis were used to correct the 3 equations, which, along with Osaka University formula, were used to predict another 219 fetuses' birth weight. The coincidence rate of the predicted value and with the actual birth weight, and the absolute error and relative error were compared between the equations.</p><p><b>RESULTS</b>The fetal abdominal area (AA) and abdominal circumference (AC) showed the most conspicuous influence on the estimated fetal birth weight, and fetal humerus length (HL) was more sensitive than femur length (FL) for the estimation. Three new regression equations were established, among which the equation 2 (fetal birth weight=1082.859+4.116xAAxHL) showed the best accuracy in clinical prediction.</p><p><b>CONCLUSION</b>AA,AC and HL are more sensitive indices for estimation of the fetal birth weight, and the equation 2 established in this study still awaits further verification for its clinical value.</p>

Combined use of methotrexate and mifepristone for ectopic pregnancy management: a meta- analysis / 南方医科大学学报

<p><b>OBJECTIVE</b>To evaluate the clinical effect and safety of combined use of methotrexate and mifepristone for treatment of ectopic pregnancy.</p><p><b>METHODS</b>By searching in the major databases of CNKI, CBMdisk and Pubmed according to the criteria of evidence-based medicine, we collected data of randomized controlled trials pertaining to combined use of methotrexate and mifepristone in the treatment of ectopic pregnancy.</p><p><b>RESULTS</b>Twenty-three randomized controlled trials involving totally 1 706 patients were collected according to the inclusion criteria, and meta-analysis of the data indicated that combined use of methotrexate and mifepristone can be of great value in the management of ectopic pregnancy in comparison with exclusive use of methotrexate [ combined odds ratio (OR) was 2.84 with 95%confidence interval [CI] (2.18, 3.69), Z=7.79, P<0.000 01].</p><p><b>CONCLUSION</b>The clinical evidence derived from the analysis suggests that the combination of methotrexate and mifepristone for ectopic pregnancy management can be effective with good safety security and minimal side effects, but still, this conclusion needs further verification by randomized, double-blind, and controlled trials with larger sample size and more rigorous trial design.</p>