Child, Preschool ; Congenital Hypothyroidism ; complications ; Female ; Humans ; Williams Syndrome ; complications

Feeding adult male rats with gossypol acetic acid at a dose of 15 nig/kg/day for 50 days led to infertility. Spermatogenesis and sperm motility were impaired ( table 1 ) . However, testosterone, K+ and Na+ concentsrations in serum and RTF were found to be unchanged (table 2, 3 ) . It suggests that at low antifertility doses gossypol disrupts spermatogenesis in the seminiferous epithelium without affecting testosterone, K+ and Na+ secretion and translation in testis.

Animals ; Brain ; drug effects ; metabolism ; Calmodulin ; metabolism ; Female ; Lead ; toxicity ; Male ; Maternal Exposure ; Pregnancy ; Protein Kinase C ; metabolism ; Rats ; Rats, Wistar

Objective To explore the genetic prenatal diagnosis method for acbendroplasia (ACH).Methods During May to November 2007, three ACH pedigrees were diagnosed at the Prenatal Diagnosis Center, Department of Obstetrics and Gynecology, Affiliated Drum Tower Hospital of Medical College, Nanjing University. In family 1, there was a 6-month-old male ACH infant. In family 2, the expectant mother, with 18 weeks of pregnancy, was an ACH patient. Amniocentesis was performed for prenatal diagnosis. The fetus of family 3 was diagnosed as ACH by ultrasound examination on the 39th week of gestation. Umbilical cord blood of this fetus was collected for examination. Totally, three methods, restriction enzyme (Sfc Ⅰ and Msp Ⅰ ) digestion analysis, denaturing high performance liquid chromatography (DHPLC) and sequencing analysis were performed simultaneously to detect the pathogenic mutation of flbroblastic growth factor receptor 3 (FGFR3) for the three ACH families. Results ( 1 ) The DHPLC detection: heteroduplex was detected in the patient of family 1 ; beth the patient and the fetus of family 2 showed heteroduplex results; the result of the fetus of family 3 was also heteroduplea. (2) The enzyme digestion analysis for the PCR products of 10 exon of FGFR3: after Sfc Ⅰ digestion, the PCR products of patients and the fetus of family 1 and 2 showed not only the band of 247 bp, but also bands of 162 bp and 85 bp. But their PCR products could not be digested by Msp Ⅰ , and it only showed the band of 247 bp. For the fetus of family 3, the PCR products could not be digested by Sfc Ⅰ , while after digestion by Msp Ⅰ , bands of 162 bp and 85 bp were shown up. The PCR products of the normal control could be digested by neither Sfc Ⅰ nor Msp Ⅰ. (3) The sequencing results: the heterozygote mutation of 1138 C→A was confirmed in the patient of family 1. The pregnant woman and her fetus in family 2 showed the same result. The heterozygote mutation of C→C was confirmed in the fetus of family 3. The site of 1138 was G homozygote in the normal control The three detection results of the fetus in family 2 were the same as that of the mother, which means that the fetus inherited the same pathogenic mutation from his or her mother. Conclusions Both DHPLC and restriction enzyme digestion analysis could detect the mutation of FGFR3 gene, but DHPLC is more rapid, convenient and sensitive. So DHPLC can be applied to genetic diagnosis and prenatal diagnosis for ACH patients.

Objective To investigate the value of ultrasound in diagnosis of fetal simple unilateral multicystic dysplastic kidney (MCDK) disease.Methods Pregnant women who underwent prenatal ultrasound screening and follow-up were analyzed retrospectively,and 29 fetues with MCDK were found.After exclusion of pregnancy syndrome,other structural abnormalities and chromosomal abnormalities,15 fetues willing to continue pregnancy and accepting the follow-up tracking observation were observed to postpartum.Ipsilateral renal ultrasonographic characteristics,contralateral renal morphology and size,growth and development of children and the renal function were analyzed.Results The minimum follow-up time of the 15 fetus was pregnancy to 7 months after birth,the maximum follow-up time was pregnancy to 5 years of age in children.Ultrasound showed that ipsilateral kidney volume became large in fetal period,reduced gradually in late pregnancy,and atrophy in 5 6 months after birth,even could not displayed with untrasound.The shape,size,and sonographic characteristics of the healthy kidney were similar to the normal gestational age kidney.Prenatal fetal growth indicators and amniotic fluid volume were normal.After birth,except for 1 child with overweight,other children's growth and development indicators were almost normal.Conclusion Fetus with simple unilateral MCDK has a good prognosis.Ultrasound has important value in the examination and follow-up.It can provide reliable basis for prenatal diagnosis and consultation.

Objective To explore the effect of minimally invasive clinical pathway in patients after car-diac interventional therapy. Methods One hundred and twenty patients who received cardiac interventional therapy from June 2005 to October 2006 were divided into the control group and the observation group.The control group received routine nursing while the observation group adopted minimally invasive clinical pathway of nursing.The nursing effect in the two groups was compared. Results The mean hospitalized duration, sat-isfaction degree and health knowledge level in the observation group were superior to those of the control group (P ＜ 0.05). Conclusions The adoption of minimally invasive clinical pathway in patients after cardiac inter-ventional therapy could increase working efficiency nd ensure the nusing quality.

OBJECTIVETo investigate the effect of baicalein on the gap junction intercellular communication (GJIC) in the TM4 Sertoli cells of the mouse testis and its related mechanism.

METHODSWe measured the cytotoxicity of different concentrations of baicalein on the TM4 Sertoli cells in the mouse testis by MTT, detected the fluorescence transfer of the TM4 Sertoli cells by parachute assay, and determined the expression of the protein connexin 43 ( Cx43) in the baicalein-treated cells by Western blot and immunofluorescence assay.

RESULTSBaicalein produced no obvious cytotoxicity on the TM4 Sertoli cells at the concentration below 60 µmol/L but significantly increased their GJIC at 0-20 µmol/L (P < 0.01). Western blot and immunofluorescence assay showed that 0-20 µmol/L baicalein remarkably elevated the expression of Cx43 in the TM4 cells (P < 0.01) and on the membrane of the TM4 cells.

CONCLUSIONBaicalein at the concentration of 0-20 µmol/L can significantly enhance GJIC in mouse TM4 Sertoli cells by increasing the expression of the Cx43 protein.

Animals ; Cell Communication ; drug effects ; Connexin 43 ; metabolism ; Flavanones ; administration & dosage ; pharmacology ; Gap Junctions ; drug effects ; Male ; Mice ; Sertoli Cells ; drug effects ; metabolism ; ultrastructure

Objective To investigate the application of "Guidelines for performing fetal cardiac scan", issued by the International Society of Ultrasound in Obstetries and Gynecology in 2006, in prenatal screening of fetal congenital heart disease (CHD). Method Totally, 5000 singleton pregnancies presented at the Maternal-Fetal Medical Center of the Affiliated Drum Tower Hospital of Nanjing University Medical School from September 2006 to July 2007, for prenatal screening were included in this study, with the median maternal age of 28 ( range, 18～48 ) and the median gestation of 27 ( range, 18～40 ) weeks. Ultrasound screenings were performed on each fetal heart according to "Guidelines for performing fetal cardiac scan" via the four-chamber and outflow tracts & three-vessel views and fetal echocardiographies were further conducted for suspected cases. Once congenital heart disease was confirmed, amniocentesis or cordocentesis was suggested for fetal karyotyping for ongoing pregnancies and autopsy was performed when the pregnancy was terminated after formal consent. Bom babies were followed up at 2～6 months of age using echocardiography. Result The four-chamber views were successfully obtained in 97.64% (4882/5000) of all the pregnancies , among which the left ventricular and right ventricular outflow tracts and three-vessel views were obtained in 87.69% ( 4281/4882 ), 82.51% ( 4028/4882 ) and 96.29% ( 4701/4882 ), respectively. Higher successful rate was found in the second trimester than the third trimester in obtaining the standard views (P<0.05). Finally, 73 (1.50%) among the 4882 cases were diagnosed as CHD. Fifty of them were diagnosed prenatally (24 cases in the second trimester and 26 cases in the third trimester) and 23 were missed and 1 misdiagnosed by prenatal ultrasound. Eighteen cases were found with extracardiac malformations. Autopsy was performed in 19 CHD which diagnosed prenatally, and all autopsy reports were consistent with ultrasound foundings. Twelve babies received postnatal echocardiography among which 11 were unanimous, and 1 baby diagnosed as tricuspid insufficiency prenatally was confirmed normal after birth. Abnormal karyotype was found in 7 out of the 23 who had karyotyping performed. Altogether, 28 cases were diagnosed by four chamber view only and 50 cases by combining other views, giving the sensitivity, specificity, false negative rate and false positive rate of 69% (50/73), 99.98% (4808/4809), 0.48% (23/4831) and 2% ( 1/51 ) ,respectively. Conclusion The "Guidelines for performing fetal cardiac scan" is practical and easy to abide by. The optimal time for fetal cardiac examination is at 18～27 weeks of gestation. Four-chamber view together with the outflow tracts and three-vessel views examination can detect 69% of CHD in utero.

Objective To investigate the expression of microRNA (miRNA)-3620 in the plasma of patients with anti-tuberculosis drug-induced hepatotoxicity (ATDH).Methods A total of 35 patients with ATDH and 35 non-ATDH paired individuals were included in this study.Plasma miRNA-3620 levels were detected using real-time Polymerase chain reaction.Comparison between two groups was done with t test.Receiver operation characteristic (ROC) curve analysis was performed to determine the diagnostic value of miRNA-3620 in ATDH.Results The relative expression of plasma miRNA-3620 of patients with ATDH and non-ATDH were 1.65±1.43 and 0.71±0.45, respectively, with significantly statistical difference (t=3.703, P<0.01).The cut off value of miRNA-3620 expression was 1.15 and the area under ROC curve were 0.71(95% CI: 0.43-1.45).Based on this cutoff value, the sensitivity and specificity of miRNA-3620 in diagnosing ATDH were 60.0% and 82.9%, respectively;the positive predictive value was 77.8% and the negative predictive value was 67.4%.Twenty-one ATDH cases and 29 non-ATDH cases was correctly diagnosed, with the accuracy of 71.4%.Conclusion The expression of miRNA-3620 in plasma is significantly increased in ATDH patients.

Objectives To assess the performance of first trimester ultrasound screening for fetal structural and chromosomal anomalies based on a detailed anomaly and nuchal translucency (NT) scan at 11-13+6 weeks' gestation.Methods A prospective cohort study was conducted at Nanjing Drum Tower Hospital.Fetuses with a crown-rump length (CRL) between 45 mm and 84 mm scanned during December 2015 to March 2016 were enrolled in this study.After a detailed first-trimester anomaly scan followed the protocol of systematic standardized scan plans,fetuses with congenital abnormalities were screened out.Second trimester ultrasound screening and postnatal examination were performed for further examination of fetal anomalies.Cytogenetic analysis was performed on the fetuses with informed consent.Results (1) A total of 1 154 fetuses were enrolled in this study and among them,36 (3.1％) cases of fetal abnormalities were diagnosed through prenatal examination (35 cases) and postnatal examination (one case).(2) Twenty-one (58.3％) out of the 36 cases with structural and chromosomal anomalies were screened out by using the first-trimester scan,including eight cases of congenital cardiac defect (two cases of atrioventricular septal defect,one case of tricuspid atresia,one case of tetralogy of tetralogy,one case of right ventricle aneurysms and one cases of hypoplastic left heart syndrome combined with cystic hygroma with one case combined with polydactyly),four cases of central nervous system anomaly (three cases of exencephaly and one case of anencephaly combined with double outlet right ventricle),two cases of cleft palate/lip with one case combined with double outlet right ventricle,two cases of exomphalos,one case of amniotic band syndrome,one case of spinal bifida combined with megacystis,one case of umbilical cyst,one case of polydactyly and one case of cystic hygroma.One case of twin pregnancy chose selective fetocide to the fetus with exencephaly and 16 cases terminated pregnancy.The other four cases were confirmed by second trimester ultrasound screening and postnatal examination.Fourteen (38.9％,14/36) new cases of structural and chromosomal anomalies were detected by the second-trimester scan,six of which terminated the pregnancies and the rest were confirmed at term.One (2.8％,1/36) case of polydactyly was detected postnatally.(3) Chromosomal microarray analysis was performed on 28 cases,seven of which were identified as having chromosomal abnormalities including five cases detected in the first trimester and two cases detected in the second trimester.(4) Out of the 20 fetuses with abnormal NT in early trimester,which accounted for 1.7％ of all enrolled fetuses,nine were indentified with major structural or chromosomal abnormalies,a quarter of all abnormal fetus.Conclusions Detailed anomaly scan and NT scan in the first-trimester can increase the detection rate of fetal structural and chromosomal anomalies as compared with the traditional NT scan and provide earlier detection of severe fetal abnormalities as compared with second trimester anomaly scan.