Objective To evaluate the NLRP7 gene mutations and variants and their expression of genetic approach in hydatidiform mole patients with family history.Methods Six cases of mole patients with family members of mole history and 60 healthy women, taking blood, extracting DNA, the genetic mutation on NLRP7 screening and analysis, looking for mutations and corresponding amino acids, proteins control gene mutation found NLRP7 area.Results In 6 mole patients with family history:three patients were with sister's history of mole, and 2 of them familial recurrent hydatidiform mole(from family MoCh76 and family Ch77), there are 2 loci NLRP7 gene mutation.Screening patients from family MoCh76 for mutations in NLRP7 revealed in exon 3 and exon 5, amino acids [295G ＞ T] and [1970A ＞ T], proteins [Glu99X] and [Asp657Val], in a heterozygous.Screening patients from family Ch77 for mutations in NLRP7 revealed in exon4 and exon 7, amino acids [1294C ＞ T] and [2471 + 1G ＞ A], proteins [Arg432X] and [Leu825X], in a heterozygous.Screening patients from family 105 for mutations in NLRP7 revealed no NLRP7 gene mutation.There were mother's history of mole in three patients, and they were not familial recurrent hydatidiform mole.Screening patients from family MoCh73 for mutations in NLRP7revealed in exon 4, amino acids [1137G ＞ C], proteins [Lys379Asn], in a heterozygous.Screening patients from family 106 and family 110 for mutations in NLRP7 revealed no NLRP7 gene mutation.There were not found mutations and variations in 60 cases of ethnic matched control group.Conclusion NLRP7 mutations may be lead to familial recurrent hydatidiform mole.

Objective To investigate effect of urinary conditions and lower urinary tract symptoms (LUTS) in patients before and after the reconstructive pelvic surgery (RPS) for pelvic organ prolapse (POP) as well as effect of urinary conditions and LUTS by tension-free vaginal tape-obturator (TVT-O).Methods From Jan. 2007 to Dec. 2009, 213 patients with POP underwent RPS, the factors on preoperative, postoperative urinary conditions and qualities of life and postoperative urinary incontinence were studied prospectively. Results Totally 193 patients who was followed up for more than 3 months after surgery attend questionnaires, and 165 preoperative patients of 193 (85.5%) had LUTS, 105 postoperative patients of 193 (54.4%) had LUTS, which reached statistical difference (P ＜0. 01 ). The rate of LUTS before and after operation: urinary frequency ( 57.0% and 25.9% ), urinary urgency ( 51.8% and 28.0% ), urinary leakage due to cough ( 50. 3% and 15.0% ), dropping urinary leakage ( 44. 6% and 14. 5% ), dysuria (34. 7% and 23.3% ), vesicaltenesmus (49.2% and 19. 7% ) and hand assist urination (31.1% and 2.6% ). The incidence of LUTS after surgery is much lower than that of pre-operation ( P ＜0. 05 ). POP patients with stress urinary incontinence ( SUI ) before the operation, surgery without TVT-O simultaneously are the risk factors of unimproved symptom ( OR = 4. 933, 95% CI: 1. 353 - 17. 990, P=0. 016). Conclusions RPS have alleviated LUTS in patients with POP. RPS with TVT-O are more effective than traditional RPS in treatment of the urinary incontinence if the POP patient with SUI or occult SUI.

ObjectiveTo explore the effects of phosphatidylinositol 3-kinase (PI3K)/protein kinase B (Akt)/nuclear factor-kappa B (NF-κB) signal pathway on the process of follicle-stimulating hormone (FSH) facilitating cell proliferation and invasion in human epithelial ovarian cancer. Methods Ovarian cancer cell lines SKOV3 and 3AO were cultured to exponential phase,then assigned to control group,FSH group,LY294002 group and FSH + LY294002 group,respectively.Cells were treated with different concentration of FSH and LY294002,respectively.The effects of FSH on cell proliferation were observed by methylthiazolyl tetrazolium (MTT).Morphological changes were observed by phase contrast microscope.The ability of cell invasion was investigated by transwell invasion assay.The expression of FSH receptor (FSHR),Akt1/2,phosphorylated-Akt (p-Akt) and NF-κB p65 protein were detected by western blot.Results( 1 ) FSH could promote the proliferation of SKOV3 and 3AO cells.When the cells were treated with 40 U/L FSH for 48 hours (SKOV3) and 24 hours (3AO),compared with those in control groups,they reached the highest proliferation rate (P ＜ 0.05 ),respectively.(2) The morphology of SKOV3 and 3AO cells in four groups:in control group,SKOV3 cells were short spindle and 3AO cells were long spindle,the nuclei of them were both roundness or oval,the cytoplasm were bright.In FSH group,the cells changed to slightly longer or polygonal,they were full in shape,meanwhile,the cell intensity were higher than control group.In LY294002 group,some cells changed from spindle to round,and began to shrink.The cell intensity diminished.The morphology of FSH + LY294002 group was similar with control group,but the cell intensity was lower than that in FSH group.(3)The number of SKOV3 cell that passed through the membrane in control group,FSH group,LY294002 group and FSH + LY294002 group was (26 ± 6),( 118 ± 19),( 18 ± 5) and ( 38 ± 7 ),respectively.The number of 3AO cell was ( 19 ± 4 ),( 134 ± 20),(12 ±3) and (58 ± 11 ),respectively.The results showed that the number of cells in FSH group was significantly higher than that in control group ( P ＜ 0.05 ),while the number of cell in FSH + LY294002 group was significantly fewer than that in FSH group (P ＜ 0.05 ).(4) There was no significant difference in the expression of FSHR and Akt1/2 between FSH group and control group (P ＞ 0.05 ),but FSH increased the expression of p-Akt and the ratio of NF-κB p65 in the nucleus versus cytoplasm in SKOV3 and 3AO cells,there were significant differences compared with control group ( P ＜ 0.05 ).LY294002 reversed the effects of FSH on increasing the expression of p-Akt and the ratio of NF-κB p65 in the nucleus versus cytoplasm,there were significant differences among LY294002 group,FSH + LY294002 group and FSH group (P ＜ 0.05 ).ConclusionThe effects of FSH on proliferation and invasion of ovarian cancer cell lines SKOV3 and 3AO may be realized by regulating the activity of NF-κB in PI3K/Akt signal pathway.

ObjectiveTo study microRNA (miRNA) expression and role of cell cycle regulation in decidualized endometrial stormal cells (ESC) in vitro.MethodsESC was induced decasualization in vitro and matched with non-decidualized cells as controls.The expression repertoire of miRNA was measured by microarray chip and was validated by real-time PCR.Flow cytometry was used to identify ESC cycle during decidual reaction in vitro and after miRNA222 inhibitor was transfected into it.Results (1) Between decidualized and undecidualized stromal cells,there were 49 miRNAs significantly different expression by microarray chip,including 16 miRNA up-regulation and 33 miRNA down-regulation.hsa-miR-27b,30c,143,101,181 b,29b,30d,507,23 a,222,221 exhibited significantly differential expression between decicualized and undecidualized stromal cells by real-time PCR (P ＜0.05).(2) After miRNA222 inhibitor (NC-FAM) transfection to decidual ESC,ESC were cultured by FBS medium for 24 hours,the rate of transfection was 70％.ESC were transfected with miRNA 222 inhibitor and cultured for 48 hours,the percentage of ESC at Sphase of (6.2 ± 0.7 ) ％ were significantly lower than ( 10.9 ± 0.8 ) ％ in control group ( P ＜ 0.05 ) ; the percentage of ESC at G0/G1 phase increased at transfection group [ (77.5 ± 1.3 ) ％ vs.(73.0 ± 1.6) ％ at control group ],but there was no significant difference (P ＞ 0.05 ).Decasualization ESC were transfected with miRNA 222 inhibitor and cultured for 48 h,the percentage of ESC at S-phase was ( 3.3 ± 0.6) ％ in transfection group,which were significantly lower than (7.8 ± 0.9 ) ％ in control group ( P ＜ 0.05 ).The percentage of ESC at G0/G1 phase was ( 80.7 ± 1.6 ) ％ in transfection group and ( 74.9 ± 1.1 ) ％.In control group,which did not reached statistical difference ( P ＞ 0.05).ConclusionmiRNA was involved in ESC decidual process in vitro by regulating cell cycle.

Objective To explore the clinical value of combined detection of serum human epididymal secretory protein E4 (HF4) and CA125 in the diagnosis of endometrial carcinoma.Methods From Jan 2010 to Apr 2011,the serum specimens were collected from124 cases of endometrial carcinoma,97 cases of benign disease of uterus and 109 cases of healthy women.HE4 levels in the serum were detected by ELISA,and CA125 levels in the serum were detected by the electro- ehemiluminescent immunoassay.Those results were shown with median level.Accuracy of the diagnosis was evaluated by the area under the receiver operating characteristic curve ( ROC-AUC ).ResultsThe median levels of HE4 and CA125 were 78.09 pmol/L and 33.43 kU/L in serum of endometrial carcinoma group.The median levels of HE4 and CA125 were 46.37 pmol/L and 18.26 kU/L in serum of benign disease of uterus group.The median levels of HE4 and CA125 were 31.75 pmol/L and 12.64 kU/L in serum of healthy women group.The HE4 and CA125 levels in serum of endometrial carcinoma group were significantly higher than those of benign disease of uterus group or healthy women group ( all P ＜ 0.05 ).Compared with that benign disease of uterus group,the ROC-AUC of HE4 and CA125 in endometrial carcinoma group were 0.913 and 0.801,respectively.When the specificity was 95.0％,the sensitivities of HE4,CA125,and combined detection of HF4 and CA125 in endometrial carcinoma group were 41.1％,22.6％ and 46.0％,respectively.The positive rates of HE4 and CA125 were 31％ (27/86) and 12％ (10/86) in stage Ⅰ - Ⅱ of endometrial carcinoma,while the positive rates were 63％ (24/38) and 47％ (18/38) in stage Ⅲ -Ⅳ of endometrial carcinoma,in which there were significant difference between patients in stage Ⅲ - Ⅳ and stage Ⅰ - Ⅱ (P ＜ 0.01 ).ConclusionsThe combined detection of serum HE4 and CA125 is helpful to the diagnosis of endometrial carcinoma.The sensitivity,specificity and early diagnosis of HE4 are better than that of CA125.The positive rates of HF4 and CA125 in endometrial carcinoma are related to the clinical staging.

ObjectiveTo study the influence of EmbryoGlue on the implantation of embryo and pregnancy outcome in vitro fertilization (IVF)-embryo transfer (ET).Methods From August 2010 to January 2011,243 infertile patients in Reproductive Medical Center of Tianjin Medical University General Hospital who underwent IVF or intracytoplasmic sperm injection (ICSI) were divided into two groups,including 129 cases used EmbryoGlue as the embryo transfer medium in experimental group and 114 cases used G-2 as embryo transfer medium in control group.Pregnancy outcome were compared between two groups.Results (1) The female age,IVF/ICSI constituent ratio,previous failure cycles and infertile factors of patients did not show statistical difference between experimental group and control group (P ＞0.05 ).(2) The implantation rate of women in experimental group increased significantly compared with the control group [ 30.4％ ( 85/280 ) vs.18.8％ ( 48/255 ),P ＜ 0.05 ] ; Clinical pregnancy rate increased significantly compared with the control group [48.8％ (63/129) vs.34.2％ (39/114),P ＜0.05] ; Multiple pregnancy rate increased significantly compared with the control group [ 34.9％ (22/63) vs.20.5％(8/39),P ＜ 0.05 ] ; Ectopic pregnancy rate decreased significantly compared with the control group [ 4.8％(3/63) vs.17.9％ ( 7/39 ),P ＜ 0.05 ].ConclusionEmbryoGlue can facilitate embryo implantation in IVF-ET and reduce the occurrence of ectopic pregnancy.

ObjectiveTo investigate the relationship between testosterone level and related index and metabolic syndrome(MS) of women in perimenopause or postmenopause period.MethodsFrom May 2009 to August 2010,911 women aged 40 - 65 years underwent physical examination in the Memorial Hospital,Sun Yat-sen University were enrolled in this study,which were divided into 175 women with early perimenopause period in group A,112 women late perimenopause period in group B,161 women with early postmenopause period in group C,132 women with moderate postmenopause period in group D,88 women with late postmenopause period in group E,243 women with regular menstruation as control group (group F).MS was defined according to the International Diabetes Federation (IDF) criteria.The relationship of free testosterone level and MS of women in different stage of menopause was analyzed.Results (1) Compared with 1.13 nmol/L in group F,median testosterone level of 1.03 nmol/L in group A,0.91 nmol/L in group B,0.91 nmol/L in group C,0.87 nmol/L in group D,0.83 nmol/L in group E decreased significantly at early peri-menopause period(P ＜0.01 ).Median free androgen index(FAI) was 1.33 in group A,1.56 in group B,1.69 in group F.When compared median FAI in group A with those in group F or B,it all showed significantly difference ( P ＜ 0.01 ) ; Testosterone ( T)/estradiol ( E2 ) were 0.042 in group C,0.040 in group D,0.042 in group E,0.010 in group A.When compared T/E2 in group C with group F,D and E,it all reached statistical difference (P ＜ 0.01 ).(2)There were negative correlation among waist circumference (WC,r =- 0.287 ),fasting blood glucose ( FBG,r =- 0.281 ),triglyceride ( TG,r =-0.224) and sex hormone-binding globulin (SHBG) and positive correlation with high density lipoprotein cholesterone (HDL-C,r =0.314).The logistic regression analysis for MS showed that the MS was associated with SHBG significantly ( OR =0.993,95％ CI:0.986 - 0.999,P =0.035 ).( 3 ) When cut-off value of SHBG was defined at 56.14 nmol/L,SHBG was used to predict MS with sensitivity of 63.13％ and specificity of 69.45％.Conclusions Serum testosterone was associated with MS in women at perimenopausal and postmenopausal period,so window period of preventing MS was set at perimenopausal period.A serum testosterone level was elevated from premenopause to postmenopause period.Because there was an association between SHBG and MS,SHBG was a selectable parameter to predict MS.

Objective To investigate factors and neonatal outcomes associated with histologic chorioamnionitis (HCA) in preterm premature rupture of membranes (PPROM).MethodsFrom Jan.2008 to Jun.2011,230 women with PPROM at 28 -33 +6 weeks of gestation undergoing deliveries in the Second Affiliated Hospital of Wenzhou Medical College were studied retrospectively.According to placental histopathologic findings,those patients were categorized into two groups,including 138 cases in histologic chorioamnionitis (HCA group ) and 65 cases in non-chorioamnionitis (control)group.Age,parity,gestational age of PPROM and delivery,latency period,oligohydramnios,white blood cell (WBC) count and serum C-reactive protein (CRP) level at admission and before delivery,the incidence of neonatal respiratory distress syndrome (NRDS),neonatal pneumonia,bronchopulmonary dysplasia,necrotizing enterocolitis,early-onset neonatal sepsis,abnormal brain sonography findings and mortality were compared between two groups.Results( 1 ) The incidence of HCA was 68.0.％ ( 138/203 ) in all 203 cases with PPROM.(2) The occurring ruptured membrane gestation in HCA group was ( 31.1 ± 1.5 ) weeks,which were significantly earlier than (32.0 ± 1.3 ) weeks in control group ( P ＜ 0.05 ).The level of CRP of (8.2 ± 14.9) mg/L before delivery in HCA group was significantly higher than (5.5 ±7.2) mg/L in control group (P ＜ 0.05).The rate of oligohydramnios and cesearean sections were 55.1％ (76/138) and 45.7％ (63/138) in HCA group,which were significantly higher than 30.8％ (20/65) and 29.2％ (19/65) in control group (P ＜0.05).There were no significant difference in patient's age,parity,WBC count and CRP at admission between two groups (P ＞ 0.05 ).The latency period did not show significant difference between (140± 116) hours in HCA group and (129 ± 125) hours in control group (P ＞ 0.05).(3) Using multivariable logistic regression models,oligohydramnios ( OR =2.937 ),gestational age of PPROM ＜ 32 weeks ( OR =2.352),serum CRP level ＞ 8 mg/L before delivery ( OR =4.923 ) and latency period ＞ 48 -168 hours (OR =4.439) were significantly associated with HCA (P ＜0.05).(4) The gestational age of delivery and birth weight of HCA group were significantly lower than those of control group [ ( 32.0 ± 1.5 ) weeks vs.( 32.7 ± 1.5 ) weeks,( 1680 ± 379) g vs.(2017 ± 333) g,respectively,P ＜ 0.05 ].The incidence of Apgar ＜7,abnormal brain sonograhy findings, neonatal pneumonia,bronchopulmonary dysplasia,early-onset neonatal sepsis and mortality in HCA group were significantly higher than those in control group [20.3％ (28/138) vs.7.7％ (5/65),14.5％ (20/138) vs.4.6％ (3/65),12.3％ (17/138) vs.3.1％(2/65),5.8％ (8/138) vs.0,6.5％ (9/138) vs.0,12.3％ (17/138) vs.3.1％ (2/65),respectively,P ＜ 0.05 ].The incidence of necrotizing enterocolitis ( 1.5％,2/138 ) in HCA group was higher than that of controlgroup(0) and the incidence of NRDS ( 18.8％,26/138) in HCA group did not show statistical difference with 21.4％ ( 14/65 ) in control group ( P ＞ 0.05 ).ConclusionsIt was found that HCA was significantly correlated with lower gestational age of PPROM,higher serum CRP level before delivery,prolonged latency period and oligohydramnios in PPROM.HCA could increase the neonatal morbidity and mortality.

ObjectivesTo explore the roles of mean corpuscular volume(MCV),mean corpuscular hemoglobin(MCH) and hemoglobin A2 (HbA2) in the laboratory screening of thalassemia,and to find optimal screening modality for different conditions.Methods From September 2008 to May 2011,1384 subjects underwent thalassemia screening at Department of Obstertrics andGynecology of Nanfang Hospital.Of them,1036 cases were diagnosed with thalassemia (408 α-thalassemia,608 β-thalassemia,and 20 αβ compound thalassemia,thalassemia group) and 348 without thalassemia,non-thalassemia group.All subjects were screened respectively for MCV,MCH and HbA2.Analyses were performed in all subjects to assess the sensitivity,specificity,positive predictive value,negative predictive value and diagnostic accuracy respectively associated with MCV,MCH and HbA2 alone,combination of MCV and MCH,and combination of MCV,MCH and HbA2.Results( 1 ) In the thalassemia group,the sensitivity of MCV alone was 92.9％ (379/408) for α thalassemia,99.3％ (604/608) for β thalassemia and 100.0％(20/20) for αβ compound thalassemia.In the non-thalassemia group,the specificity of MCV alone was 75.0％ (261/348).(2) In the thalassemia group,the sensitivity of MCH alone was 92.9％ (379/408) in α thalassemia,99.0％ (602/608) in β thalassemia and 100.0％ (20/20) in αβ compound thalassemia.In the non-thalassemia group,the specificity of MCH alone was 72.7 ％ (253/348).(3) The sensitivity of Hb A2 alone was 67.4％ (275/408) for α thalassemia,97.5％ (593/608) for 3 thalassemia,and 100％ (20/20) for α3 compound thalassemia while it's specificity was 72.4％ (252/348) in the non-thalassemia group.(4)With positive indexes of MCV,MCH and MCV + MCH,when HbA2 ＞ 3.5％ it had a high value in [β-thalassemia screening,but when HbA2 ＜ 2.5％ it had little value in α-thalassemia screening.(5) As a single marker,MCV and MCH had better sensitivity,specificity,positive predictive value,negative predictive value and diagnosis accuracy than HbA2.MCV + MCH was the best for overall screening,but for [β thalassemia screening,MCV + MCH + HbA2 was the best.ConclusionsMCV and MCH are suitable for epidemic screening in a large population,physical examination and premarital check-up.Hb electrophoresis andthalassemiagenediagnosisarerecommendedforsubjectswithpositiveMCVandMCH indexes.Diagnoses of α and β-thalassemia gene are recommended for pregnant women with positive MCV and MCH indexes.

ObjectiveTo report the results of preventive control program of severe thalassemias in Zhuhai City of Guangdong Province from 1998 to 2010.MethodsAs the guide centre of marriage and childbearing and the greatest maternity hospital in Zhuhai City of Guangdong Province,Zhuhai Municipal Maternity and Child Healthcare Hospital constructed the genetic screening network for thalassemias testing and referred for follow-up and for genetic counseling.The couples for premarital medical examination or regular healthcare examination in pregnancy were enrolled to this preventive control program.A conventional strategy of screening for heterozygote was used to identify the α- and β-thalassemia traits in women and their spouses according to the standard procedures of hematological phenotype analysis which was recommended by Thalassemia International Federation (T IF).Then those suspected couples at risk were diagnosed for α- and β-thalassemia by PCR-based DNA assays.The couples at risk for severe thalassemias were counseled and offered prenatal diagnosis and termination of pregnancy in case of an affected fetus in the rights of consent and of option voluntarily.ResultsFrom January 1998 to December 2010,85 522 brides and grooms-to-be for premarital screening and 41 503 pregnant women in addition to 14 141 partners for prenatal screening were recorded,the covering rates of premarital screening and prenatal screening in the city were 92.698％ (from 1998 to 2003) and 27.667％ (from 2004 to 2010),respectively.Totally 10 726 cases were found to be the carriers of thalassemias,with 7393 for o-thalassemia (5.237％,7 393/141 166) and 3333 for β-thalassemia (2.361％,3 333/141 166).A total of 257 couples at-risk for severe thalassemias were detected including 190 for α-thalassemia and 67 for β-thalassemia.Among them,251 (97.7％,251/257) couples were performed prenatal diagnosis.During the preventive control program,a total of 72 fetuses with severe thalassemias including hemoglobin H disease were voluntarily terminated.In Zhuhai City,the average annual birth rate of fetuses with severe thalassemia was declined by 32.9％ (49/149).ConclusionsThis study has reduced effectively birth rate of perinatal infants with severe thalassemias in Zhuhai City by genetic screening and prenatal diagnosis of thalassemia in the large population of 13 years.Our summary comes out of technical proposals for prenatal screening and diagnosis,which could be take example by preventative control of thalassemia in other regions of China where are prevalent.