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

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 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.

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.

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

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 determine the image feature and clinical value of first-trimester ultrasonographic diagnosis of fetal holoprosencephaly.Methods A total 35 580 fetuses at gestational age between 11 + 6 and 13 + 6 weeks were scanned in our hospital by color Doppler ultrasound according to the prenatal ultrasound from Jan 2009 to Jan 2017.Fetal craniocerebral and faceprestige were checked carefully.Cases of fetal holoprosencephaly diagnosed in first-trimester were followed sonographically,and the clinical outcomes were recorded.Results Totally five cases of fetal holoprosencephaly were detected.Four fetuses with other associated malformations were detected by first trimester ultrasound,including one case with beak nosetril,eyes too close,one case with beak nosetril,fetal cleft lip and palate,fetal hydrops,congenital heart disease and mid gut herniation,one case with thickened nucha.One translucency (NT),one case with mandibular micrognathia,one case with trisomy 13 syndrome,the other four cases were not checked.Terminal of pregnancy was performed in four cases during early pregnancy,one case was loss to follow-up.Autopsy was refused in these cases.Fetal appearance revealed one case of cleft lip,single nostril,mandibular micrognathia,one case of hydrops,polyphalangia,microtia,one case of beak nosetril,fetal cleft lip and palate,mid gut herniation,hydrops,one case of beak nosetril,eyes too close.Conclusion Fetal holoprosencephaly can be effectively detected and diagnosed during early pregnancy with standardized prenatal ultrasound.

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 explore the expression of N-cadherin and its correlations with the clinicopathological features of human ovarian carcinoma.Methods:The expression of N-cadherin in 281 cases of ovarian carcinoma tissues were determined by immunohistochemical method.The correlations of N-cadherin expression with the clinicopathological features of human ovarian carcinoma were analyzed.Results:There was higher expression of N-cadherin in the metastatic lesions than its paired primary lesions (P =0.018).The expression level of N-cadherin in ovarian carcinoma was correlated with the FIGO stage (P =0.034),histological type (P ＜0.001) and tumor grade (P =0.004).Conclusions:High expression of N-cadherin might positively correlate with the invasion and migration ability of ovarian carcinoma cells,which was more common in the the advanced (FIGO Ⅱ-Ⅳ) ovarian carcinoma,high-grade serous carcinoma,and high grade ovarian carcinoma.N-cadherin might be useful in estimating the biological behavior of human ovarian carcinoma.