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>

Observation of the articular cartilage of osteoarthritis in SIRT1 gene knock-out mice through single staining and compound staining / 中国比较医学杂志

Objective To establish osteoarthritis model of the knee joint in mice on the basis of knocking out SIRT1 gene and to observe the differences in the morphology of the cartilage tissue using single staining and compound staining. Methods The knee joint specimens were divided into two groups: SIRT1 -/ - control group ( group A, n=6 ) and SIRT1 -/ - osteoarthritis model group ( group B, n=6 ) . The knee anterior cruciate ligament was traversed, and the ipsilateral medial meniscus was cut to establish an osteoarthritis model of knee joint. HE staining, safranin O-fast green staining, safranin O-alcian blue staining, safranin O staining, fast green staining, alcian blue staining were used to observe the morphological changes in the articular cartilage of the knee. Results Safranin O-fast green staining and safranin O-alcian blue staining showed better results in observation of the morphology of chondrocytes, the structure of cartilage layers, the presence of type II collagen, tide line and the changes of subchondral bone. While the safranin O staining and alcian blue staining had certain advantages in the observation of the defects of cartilage tissue. Conclusions Compared with the single staining, the compound staining used in this study have obvious advantages in obtaining useful information of the cartilage structure in the observation of morphology of cartilage tissues in SIRT1 gene knock-out mice.

Observation of the articular cartilage of osteoarthritis in SIRT1 gene knock-out mice through single staining and compound staining / 中国比较医学杂志

Objective To establish osteoarthritis model of the knee joint in mice on the basis of knocking out SIRT1 gene and to observe the differences in the morphology of the cartilage tissue using single staining and compound staining. Methods The knee joint specimens were divided into two groups: SIRT1 -/ - control group ( group A, n=6 ) and SIRT1 -/ - osteoarthritis model group ( group B, n=6 ) . The knee anterior cruciate ligament was traversed, and the ipsilateral medial meniscus was cut to establish an osteoarthritis model of knee joint. HE staining, safranin O-fast green staining, safranin O-alcian blue staining, safranin O staining, fast green staining, alcian blue staining were used to observe the morphological changes in the articular cartilage of the knee. Results Safranin O-fast green staining and safranin O-alcian blue staining showed better results in observation of the morphology of chondrocytes, the structure of cartilage layers, the presence of type II collagen, tide line and the changes of subchondral bone. While the safranin O staining and alcian blue staining had certain advantages in the observation of the defects of cartilage tissue. Conclusions Compared with the single staining, the compound staining used in this study have obvious advantages in obtaining useful information of the cartilage structure in the observation of morphology of cartilage tissues in SIRT1 gene knock-out mice.

Study of concentration of amniotic fluid alpha-fetal protein in thalassemia fetus

Objectives To test the hypothesis that concentration of amniotic fluid alpha-fetal protein (AFAFP) is increased in thalassemia fetus. Methods A total of 135 cases of amniocentesis admitted from July 2013 to December 2014 were included in this study. Among them 98 cases of normal fetuses were assigned into control group and 37 cases of thalassemia fetus were included as thalassemia fetus group. Alpha-fetoprotein levels detected by enzyme linked immunosorbent assay and the alpha-fetoprotein concentration were compared between the two groups. There is no significant difference in gestational age between the two groups. Results 1. AFP concentration in thalassemia fetus group was significantly higher than that of normal control group [(1 541.65 ± 734.78) μg/mL vs. (2 728.84 ± 1 539.97) μg/mL], and amniotic fluid AFP concentration was related to fetal thalassemia. 2. AFAFP concentration in pure α-thalassemia fetus was higher than that of β-thalassemia fetus or mixed α- and β-thalassemia fetus, but the difference was not significant. Conclusions Concentration of amniotic fluid alpha-fetal protein is increased in thalassemia fetus. AFP concentration in α-thalassemia fetus was higher than that of β-thalassemia or mixed α- and β-thalassemia fetus but difference was not significance. Further studies are needed to explore the possible correlation between Down syndrome and biochemical markers of thalassemia.

Blighted ovum in subfertile patients undergoing assisted reproductive technology / 南方医科大学学报

<p><b>OBJECTIVE</b>To explore the incidence and risk factors of blighted ovum in subfertile patients undergoing assisted reproductive technology (ART).</p><p><b>METHODS</b>This retrospective analysis was conducted among 2378 patients who were pregnant following embryo transfer at our center from January, 2012 to December, 2015, including cases of early pregnancy losses and simultaneous live births. The cases with early pregnancy losses were divided into embryonic pregnancy and blighted ovum groups based on the presence or absence of an embryonic pole before dilation and curettage. The clinical data of the 3 groups were analyzed for comparisons of the maternal age, paternal age, BMI, AFC, basal FSH, bFSH/bLH, duration of infertility, Gn dosage, Gn days, serum estradiol on the day of HCG administration, endometrium thickness, number of oocyte retrieved, proportion of high-quality embryos transferred, serum β-HCG value on the 10th to 14th days of embryo transfer, infertility type and miscarriage times. The incidences of blighted ovum were compared between cases with different cycles, embryo stages, infertile factors and methods of fertilization.</p><p><b>RESULTS</b>Maternal age and paternal age, BMI, duration of infertility, infertility type and miscarriage times differed significantly between cases with blighted ovum and those with live births. Serum β-HCG level was the lowest in blighted ovum group followed by embryonic pregnancy group and then by live birth group. Blastocyst transfer was associated with a significantly higher incidence of blighted ovum as compared with cleavage embryo transfer (11.6% vs 5.6%, P=0.000). No significant difference was found in the other parameters among the 3 groups (P>0.05). Adjusted logistic regression analysis showed that maternal age, β-HCG level and blastocyst transfer were risk factors of blighted ovum.</p><p><b>CONCLUSION</b>Advanced maternal age, low β-HCG level and blastocyst transfer may increase the risk of blighted ovum possibly in association with gene imprinting errors during the early stage of embryo development.</p>

Effect of globular adiponectin on proliferation, migration and tube formation of ovarian microvascular endothelial cells / 南方医科大学学报

<p><b>OBJECTIVE</b>To analyze the effect of globular adiponectin on angiogenesis of ovarian microvascular endothelial cells (OMECs).</p><p><b>METHODS</b>Mouse OMECs were isolated and purified by density gradient centrifugation with Percoll and identified by immunofluorescence analysis of follicle-stimulating hormone receptor (FSHR), luteinizing hormone receptor (LHR), and endothelial cell marker von Willebrand factor (vWF). The capillary-like tube formation of OMECs was determined by vascular endothelial growth factor A (VEGFA) treatment in Matrigel matrix. OMECs treated with recombinant globular adiponectin protein were examined for cell proliferation with MTS assay and cell migration with scratch wound healing assay, and capillary-like tube formation was tested in Matrigel matrix. Western blotting was performed to detect the effect of globular adiponectin on AMPK phosphorylation.</p><p><b>RESULTS</b>The signals of LHR and vWF, but not that of FSHR, were detected in the isolated cells. VEGFA treatment of the cells induced capillary-like tube formation, indicating their properties of ovarian-specific endothelial cells. Treatment with 1 and 3 µg/mL of recombinant globular adiponectin significantly increased the number of OMECs by (158.72∓14.50) % and (186.50∓4.20)% (P<0.01) and resulted in scratch wound closure rates of (49.43∓3.43)% (P<0.05) and (69.67∓1.2) % (P<0.01) respectively. The cells treated with 3 µg/mL globular adiponectin formed a capillary-tube length 6.63∓0.66 folds greater than that formed by the control cells (P<0.01). Treatment of the cells with 3 µg/mL globular adiponectin for 15 and 30 min resulted in pAMPK/AMPK ratios of 0.86∓0.08 and 0.66∓0.13, respectively significantly higher than that in the control cells (0.13∓0.12, P<0.01). Compound C obviously suppressed the tube formation and AMPK phosphorylation induced by globular adiponectin.</p><p><b>CONCLUSION</b>Globular adiponectin promotes angiogenesis of OMECs through activation of the AMPK signal pathway.</p>

Study of concentration of amniotic fluid alpha-fetal protein in thalassemia fetus

OBJECTIVES@#To test the hypothesis that concentration of amniotic fluid alpha-fetal protein (AFAFP) is increased in thalassemia fetus.@*METHODS@#A total of 135 cases of amniocentesis admitted from July 2013 to December 2014 were included in this study. Among them 98 cases of normal fetuses were assigned into control group and 37 cases of thalassemia fetus were included as thalassemia fetus group. Alpha-fetoprotein levels detected by enzyme linked immunosorbent assay and the alpha-fetoprotein concentration were compared between the two groups. There is no significant difference in gestational age between the two groups.@*RESULTS@#1. AFP concentration in thalassemia fetus group was significantly higher than that of normal control group [(1541.65 ± 734.78) μg/mL vs. (2728.84 ± 1539.97) μg/mL], and amniotic fluid AFP concentration was related to fetal thalassemia. 2. AFAFP concentration in pure α-thalassemia fetus was higher than that of β-thalassemia fetus or mixed α- and β-thalassemia fetus, but the difference was not significant.@*CONCLUSIONS@#Concentration of amniotic fluid alpha-fetal protein is increased in thalassemia fetus. AFP concentration in α-thalassemia fetus was higher than that of β-thalassemia or mixed α- and β-thalassemia fetus but difference was not significance. Further studies are needed to explore the possible correlation between Down syndrome and biochemical markers of thalassemia.

Media of rat macrophage NR8383 cells with prostaglandins E2-induced VEGF over-expression promotes migration and tube formation of human umbilical vein endothelial cells / 南方医科大学学报

<p><b>OBJECTIVE</b>To investigate the effect of prostaglandins E2 (PGE2) in enhancing vascular endothelial growth factor (VEGF) expression in a rat macrophage cell line and the effect of the media from PGE2-inuced rat macrophages on angiogenetic ability of human umbilical vein endothelial cells (HUVECs) in vitro.</p><p><b>METHODS</b>Western blotting and qPCR were employed to investigate the expressions of VEGF protein and mRNAs in rat macrophage cell line NR8383 stimulated by PGE2 in the presence or absence of EP2 receptor inhibitor (AH6809) and EP4 receptor inhibitor (AH23848). Conditioned supernatants were obtained from different NR8383 subsets to stimulate HUVECs, and the tube formation ability and migration of the HUVECs were assessed with Transwell assay.</p><p><b>RESULTS</b>PGE2 stimulation significantly enhanced the expression of VEGF protein and mRNAs in NR8383 cells in a dose-dependent manner. The supernatants from NR8383 cells stimulated by PGE2 significantly enhanced tube formation ability of HUVECs (P<0.05) and promoted the cell migration. Such effects of PGE2 were blocked by the application of AH6809 and AH23848.</p><p><b>CONCLUSION</b>PGE2 can dose-dependently increase VEGF expression in NR8383 cells, and the supernatants derived from PGE2-stimulated NR8383 cells can induce HUVEC migration and accelerate the growth of tube like structures. PGE2 are essential to corpus luteum formation by stimulating macrophages to induce angiogenesis through EP2/EP4.</p>

Study of integrated state of HPV-16 infection in cervical cancer and precancerous tissues / 南方医科大学学报

<p><b>OBJECTIVE</b>To investigate the prevalence of physical state of HPV-16 DNA in cervical cancer and cervical precancerous carcinoma.</p><p><b>METHODS</b>Multiplex PCR was adopted to detect the physical state of HPV in samples from 252 patients with cervical carcinoma, including 48 samples of cervical cancer, 204 cervical intraepithelial neoplasia (CIN ) (125 CIN I, 46 CIN II and 33 CIN III) and 20 normal samples from the subjects with hysteromyoma undergoing hysterectomy, respectively.</p><p><b>RESULTS</b>Among 48 patients with cervical cancer, 31 (65.6%) were infected with HPV-16. Eighteen among 31 (58.1%) HPV-16 infected patients with cervical cancer were found to have integrated infection of HPV-16. The positive rates of HPV-16 infection in the patients with CIN I, CIN II and CIN III were 19.2%, 34.8% and 42.4%, and the integrated infection rates of HPV-16 were 16.7%, 18.8% and 35.7%, respectively. Compared with patients with different grades of CIN, the integrated rate of HPV-16 infection in those with cervical cancer was significantly elevated.</p><p><b>CONCLUSION</b>Among the patients with HPV-16 infection, the integrated state of HPV-16 is positively correlated with the severity of cervical lesions. Combined HPV typing test and detection of integrated viral state contribute to predicting the prognosis of patients with cervical precancerous lesions and increasing the accuracy of screening cervical cancer on the basis of HPV DNA detection.</p>

Research about improving flowability of powder of Chinese herbs extracts by surface modification technology / 中国中药杂志

In this study, modification technology by surface coating was used to improve the flowability of powder of Chinese herbs extracts. Seven kinds of powder of Chinese herbs extracts were coated with 1% silica nanoparticles using an under-driven Comil. The powder characteristics tester was used to evaluate the flowability of uncoated and coated powders. Surface morphology and particle size distribution of powders were compared by scanning electron microscope (SEM) and optical microscope. The powder hygroscopicity was also investigated. The results showed that, after modification, angle of repose, angle of spatula, compressibility and adhesiveness extremely decreased, and flowability index substantially increased, the powder flowability was significantly improved, especially Gegen and Dahuang extracts powders. Scanning electron microscopy images showed the distribution of silica nanoparticles on the host drug particle surfaces. There were no remarkable changes in the particle size distribution and hygroscopicity of all powders after coating. Therefore, Comilling for surface coating modification technology was an effective method to improve the flowability of Chinese herbs extracts and suggested a possible way forward to enhance the quality of Chinese drugs pharmaceutics in their study and manufacture.

Risk factors of premature rupture of membranes with neonatal infection: a single-center study / 南方医科大学学报

<p><b>OBJECTIVE</b>To analyze the high-risk factors of premature rupture of membranes (PROM) with neonatal infection and explore their clinical significance.</p><p><b>METHODS</b>Forty-two cases of PROM with neonatal infections were retrospectively analyzed for the risk factors with another 42 PROM cases matched for gestational age without neonatal infections as the control group. The relations of gestational age, time from membrane rupture to delivery, mode of delivery, placental pathology, maternal serum C-reactive protein concentration, leukocyte and neutrophil values to neonatal infections were analyzed.</p><p><b>RESULTS</b>The time from membrane rupture to delivery was significantly longer and the incidence of chorioamnionitis significantly higher in the study group (P<0.05). Meningitis and neonatal sepsis occurred at a significantly higher incidence in preterm PROM group (P<0.05).</p><p><b>CONCLUSION</b>An appropriate extension of the gestation weeks and timely termination of pregnancy after dynamic monitoring of the biochemical changes and identification of the signs of infection are important to reduce the incidence of neonatal infection.</p>

Perinatal management and outcome of different types of fetal arrhythmia / 南方医科大学学报

<p><b>OBJECTIVE</b>To evaluate the perinatal management and outcome of different types of fetal arrhythmia.</p><p><b>METHODS</b>A retrospective analysis was conducted among the fetuses with arrhythmia identified by M-mode and pulsed Doppler echocardiography in a single institution between October 2003 and December 2010.</p><p><b>RESULTS</b>A total of 130 fetuses were found to have fetal arrhythmia. The most common arrhythmia during pregnancy was extrasystole (n=59), followed by bradycardia (n=23), tachycardia (n=16), atrial flutter (AF, n=3), atrioventricular block (AVB, n=12) and other arrhythmia (n=17). The overall incidence of cardiac anomalies (commonly fetal bradycardia) was 9.2% in these cases. The prognosis of arrhythmia differed significantly between cases of different classifications. The type of fetal arrhythmia (P=0.024), presence of congenital heart defect (CHD, P=0.000) and fetal hydrops (P=0.008) were significant risk factors associated with termination of pregnancy.</p><p><b>CONCLUSION</b>Fetal arrhythmias without CHD or hydrops under close monitoring often have good clinical outcome, while fetal bradycardia is associated with a high mortality rate. CHD and the presence of fetal hydrops are significant risk factors for pregnancy termination.</p>

Protective effect of limited fluid resuscitation against intestinal ischemia-reperfusion injury in postpartum rabbits with uncontrolled hemorrhagic shock / 南方医科大学学报

<p><b>OBJECTIVE</b>To investigate the protective effect of limited fluid resuscitation against intestinal ischemia- reperfusion injury in postpartum rabbits with severe uncontrolled obstetrical hemorrhagic shock.</p><p><b>METHODS</b>Twenty- four postpartum rabbits were randomly assigned into sham shock group (group P), shock group without interventions (group P0), conventional fluid resuscitation group (group PNL), and limited fluid resuscitation group (group PLH), and the model of severe uncontrolled hemorrhagic shock was established in the latter 3 groups. The rabbits were sacrificed 4 h later, and SOD activity and MDA content in the intestinal mucosa and the degree of injury to the intestinal mucosa were observed.</p><p><b>RESULTS</b>Ischemia-reperfusion injury of the intestine due to uncontrolled hemorrhagic shock resulted in decreased SOD activity and increased MDA content. The MDA content was significantly lower and SOD activity was significantly higher in group PLH than in group PNL (P<0.05), and the intestinal mucosal tissue morphology and intestinal mucosa barrier lesion increased in group PLH.</p><p><b>CONCLUSION</b>Initial limited fluid resuscitation can relieve intestinal ischemia-reperfusion injury in postpartum rabbits with severe uncontrolled obstetrical hemorrhagic shock.</p>

Rapid detection of chromosome number aberration in spontaneously aborted fetuses using fluorescence in situ hybridization / 南方医科大学学报

<p><b>OBJECTIVE</b>To assess the value of fluorescence in situ hybridization (FISH) in the diagnosis of common chromosome number aberration in spontaneously aborted fetuses.</p><p><b>METHOD</b>A total of 100 spontaneously aborted fetuses were analyzed by G-banding and by FISH to test chromosome number aberration mainly for chromosomes 13, 18, 21, X and Y, and the results of FISH test was assessed according to those by G-banding test.</p><p><b>RESULTS</b>FISH results were well consistent with those by G-banding test. FISH test identified trisomy in 32 samples and polyploidy in 7 samples. Two samples with cell culture failure were found to have trisomy 16 by FISH. Discrepancies in the results between the two tests occurred in 3 samples, but the results of FISH were verified by other methods. Kappa test between FISH technology and G-banding showed a good consistency between FISH and karyotyping (P<0.05).</p><p><b>CONCLUSION</b>FISH is an effective and rapid method for detecting chromosome number aberration in spontaneously aborted fetuses, and the combination of FISH and karyotyping provides more reliable diagnostic evidence.</p>

Retrospective analysis of 125 cases of pregnancies complicated by rheumatic heart disease / 南方医科大学学报

<p><b>OBJECTIVE</b>To investigate the impact of rheumatic heart disease on pregnancy.</p><p><b>METHODS</b>A retrospective study was conducted in 125 pregnant women with rheumatic heart disease. These cases were divided into operation (group A) and non-operation (group B), and the cardiac function, pregnancy complications, gestational weeks, delivery modes and outcomes of pregnancy were compared.</p><p><b>RESULTS</b>The cardiac function was significantly improved and pregnancy complications reduced after the cardiac operation with extended gestational weeks, showing significant differences between the two groups (P<0.05). One perinatal fetal death without maternal death occurred in group A, as compared with two maternal and two perinatal deaths in group B. Cesarean section was the primary delivery mode in these cases.</p><p><b>CONCLUSION</b>Surgical interventions can improve the cardiac function, reduce the pregnancy complications and improve the pregnancy outcomes in pregnant women with rheumatic heart disease. Cesarean section is the primary choice for pregnant women with prosthetic heart valve replacement.</p>

Roles of serum and urinary interleukins 13Ralpha2 and other cytokines in pediatric Henoch-Schonlein purpura / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To study the roles of serum and urinary interleukins (IL)-13Ralpha2, IL-4, IL-6, IL-8 and tumor necrosis factor-alpha(TNF-alpha) in pediatric Henoch-Schonlein purpura (HSP).</p><p><b>METHODS</b>Serum and urinary levels of IL-13Ralpha2, IL-4, IL-6, IL-8 and TNF-alpha were examined using ELISA in 52 children with HSP and 45 healthy children. The results were compared between the two groups.</p><p><b>RESULTS</b>Serum levels of IL-13Ralpha2, IL-4, IL-6, IL-8 and TNF-alpha in HSP patients with or without renal lesions were higher than those in the control group (p<0.01 or 0.05). Urinary levels of IL-6 and TNF-alpha in HSP patients without renal lesions were higher than those in the control group (p<0.05). Except for urinary levels of IL-6 and TNF-alpha, urinary IL-13Ralpha2 levels in HSP patients with renal lesions (HSPN) were higher than those in the control group (p<0.05).</p><p><b>CONCLUSIONS</b>Cytokines IL-13Ralpha2, IL-4, IL-6, IL-8 and TNF-alpha may play roles in the pathogenesis of pediatric HSP/HSPN.</p>

Relationship between preeclampsia umbilical blood flow and perinatal outcomes / 南方医科大学学报

<p><b>OBJECTIVE</b>To study the relationship between preeclampsia umbilical blood flow changes and the pregnancy outcomes.</p><p><b>METHOD</b>The umbilical arterial blood flow parameters including the S/D, pulsatility index (PI), resistance index (RI) and the average birth weight, Apgar score and placental weight changes were analyzed in 106 preeclampsia patients (including 43 mild and 63 severe cases), with 89 women with normal pregnancy as the control. The relation between the blood flow parameters and the perinatal outcomes were analyzed.</p><p><b>RESULTS</b>S/D, PI, and RI all tended to increase with the severity of preeclampsia, and these indices were significantly higher in patients with severe preeclampsia than in the control group (P<0.01) but showed no significant differences between mild preeclampsia group and the control group (P>0.05). The average birth weight of the newborns, Apgar scores, and placental weight were significantly lower (P<0.01), and the incidence of fetal growth restriction (FGR) and perinatal mortality significantly higher in severe preeclampsia group than in the control group (P<0.01). No significant differences were found in these parameters between the mild preeclampsia and the control groups (P>0.05).</p><p><b>CONCLUSIONS</b>Umbilical artery blood flow parameters as indicators for determining the fetal status can be used to predict the pregnancy outcomes.</p>

Expression of fragile histidine triad in endometriosis / 南方医科大学学报

<p><b>OBJECTIVE</b>To detect the expression of fragile histidine triad in endometriosis and investigate the pathogenesis of endometriosis.</p><p><b>METHODS</b>immunohistochemistry was used to examine the expression of Fhit in the eutopic and ectopic endometria of 58 patients with endometriosis and in the endometria in 15 patients with hysteromyoma.</p><p><b>RESULTS</b>The intensity of Fhit expression decreased in the order of normal endometrium, eutopic endometrium in endometriosis group, and ectopic endometrium. In patients with endometriosis, Fhit expression in the eutopic and ectopic endometria in proliferative phase showed no significant difference from that in secretory phase (P>0.05). Fhit expression in the ectopic endometrium showed significant difference between different r-AFS stages. MOD of ectopic endometrium in stages I-II was significantly higher than that in stages III-IV (P<0.05), but Fhit expression in the eutopic endometrium showed no significant difference (P>0.05). MOD of ovarian endometriosis showed no difference with that of adenomyosis.</p><p><b>CONCLUSIONS</b>Fhit may play an important role in the development of endometriosis.</p>

Correlation between oligohydramnios and abnormal expressions of TXA2, PGI2 and TXA2R in the umbilical arterial blood and placenta / 南方医科大学学报

<p><b>OBJECTIVE</b>To investigate the roles of thromboxane A(2) (TXA(2)) and prostaglandin I(2) (PGI(2)) in development of oligohydramnios.</p><p><b>METHODS</b>The concentration of TXB(2) and 6-keto-PGF1 in umbilical cord blood collected from 30 normal parturients (control) and 30 parturients with oligohydramnios was detected by radioimmunoassay to calculate the TXA(2)/PGI(2) ratio. Immunohistochemistry was performed to detect the contents of TXA(2)R in vascular endothelial cell in the placental villi.</p><p><b>RESULTS</b>Compared with the control group, the concentration of umbilical cord blood TXB(2) in oligohydramnios group was significantly increased (P<0.01), but the elevation of 6-keto-PGF(2) concentration was not statistically significant (P>0.05). The oligohydramnios group showed significantly higher positivity rates of TXB2 and 6-keto-PGF1 in than the control group (P<0.01), and the positivity rate of TXA(2)R in the vascular endothelial cells in the placental villi was also significantly higher in the oligohydramnios group (22/30, 77.3% vs 11/30, 36.7%, P<0.05). Most of the TXA(2)R-positive cases in the oligohydramnios group showed strong positivities of TXA(2)R.</p><p><b>CONCLUSION</b>Abnormal elevation of TXA(2) concentration in the umbilical cord blood and the TXA(2)/PGI(2) imbalance are responsible for the development of oligohydramnios.</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>