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.

AIM:To screen the gene expression profiles of normal gastric mucosa,primary gastric cancer and metastatic lymph nodes by gene expression microarray and the associated genes with lymph node metastasis by bioinformatics. METHODS:The differentially expressed genes of nontumorous gastric mucosa (group A),primary gastric cancer (group B) and metastatic lymph nodes (group C) were screened by gene expression microarray obtained from Affymetrix company. The results were further analyzed by bioinformatic software including Gene Expression Profiles Analysis of Cohort Experiment,Gene Ontology Enrichment Analysis and Pathway Significant Analysis. The expression of TLN1 in group A,B and C were confirmed by real-time reverse transcription PCR. RESULTS:278 genes were persistent up-regulated in group A,B,C,which participated mainly in immunologic responses,cell adhesion,phosphate transport,inorganic anion transport,cell chemotaxis,cell motility and signal transduction. While 387 genes were persistent down-regulated in group A,B,C,which were concerned with digestion,glucide metabolism,lipid metabolism,protein metabolism,one-carbon compound metabolism,nitrogen compound catabolism and cell adhesion. The pathway analysis suggested that integrin-mediated cell adhesion pathway were abnormally regulated. These genes including THBS1,TLN,CAPN3,ITGAX,SORBS1,CAPN6,CAPN9 were continuous up-regulated or down-regulated in integrin-mediated cell adhesion pathway. The expressions of TLN1 in group A,B,C were 0.0000342?0.0000711,0.1064?0.1251 and 0.2886?0.3529,respectively. The expression of TLN1 in metastatic lymph nodes was significantly higher than that in nontumorous gastric mucosa and primary gastric cancer (P

A new flavonone, named as (2R, 3S)-pinobanksin-3-cinnamate(1), together with six known compounds, pinocem-brin (2), pinobanksin (3), 3-O-acetylpinobanksin (4), galangin (5), kumatakenin(6), and 3-methylkaempferol (7), were isolated from a 95% ethanol extract of seeds of Alpinia katsumadai through a combination of various chromatographic techniques, including silica gel and Sephadex LH-20. The structure of compound 1 was elucidated by spectroscopic data analysis. Compound 1 exhibits a potent neuroprotective effect against the corticosterone-damaged PC12 cells, which may be underlying the effect by scavenging intracellular ROS.
Alpinia ; chemistry ; Animals ; Cell Death ; drug effects ; Cholestenones ; chemistry ; isolation & purification ; pharmacology ; Cinnamates ; chemistry ; isolation & purification ; pharmacology ; DNA Fragmentation ; drug effects ; Neuroprotective Agents ; chemistry ; isolation & purification ; pharmacology ; Oxidative Stress ; drug effects ; PC12 Cells ; Rats ; Reactive Oxygen Species ; metabolism ; Seeds ; chemistry

OBJECTIVETo study expression of MMP-2 in relation to microvessel density (MVD) in esophageal carcinoma.

METHODSForty-eight specimens of esophageal carcinoma (Ec) and 17 specimens of grade II + III epithelial dysplasia (Dy) close to the tumor and 12 specimens of normal tissue (Nt) along the incisional margin were examined by S-P immunohistochemical staining with anti-MMP-2 monoclonal antibody. An anti-CD34 monoclonal antibody was used to show MVD.

RESULTSMMP-2 expression in Ec was remarkably higher than that in Dy, which was higher than that in Nt. MMP-2 expression in Ec and Dy was significantly correlated with MVD in the tumor and nearby tissue. MMP-2 expression and MVD in Ec significantly associated with lymph node metastasis.

CONCLUSIONExpression of MMP-2 plays an important role in angiogenesis and lymph node metastasis of esophageal cancer.

Carcinoma, Squamous Cell ; blood supply ; enzymology ; secondary ; Esophageal Neoplasms ; blood supply ; enzymology ; pathology ; Female ; Humans ; Lymphatic Metastasis ; Male ; Matrix Metalloproteinase 2 ; metabolism ; Microcirculation ; enzymology ; pathology ; Middle Aged ; Neovascularization, Pathologic ; enzymology ; pathology

Child, Preschool ; Female ; Humans ; Magnetic Resonance Imaging ; Posterior Leukoencephalopathy Syndrome ; diagnosis ; etiology ; Precursor Cell Lymphoblastic Leukemia-Lymphoma ; complications

Comparative analysis of characteristic of species and esterase-isoenzyme of isolates of Polyporus umbel-latus from different regions were processed. The results indicated that isolates of Jizhaoling ( Z) and Zhushiling (ZJ) have significant differences in characteristic, and enzymatic band types of the two species also have significant differences. The homology at genetics between the two isolates is 0% , and consanguinity between the two i-solates is the farthest.

Background Bulbar conjunctiva tissue appears to be thinning,elasticity declined,tension reduced and fascia atrophied in conjunctivochalasis.Histopathological examination of conjunctivochalasis shows decrease of elastic fibers and melt of collagen fibers.But there are fewer studies on the ultrastructure of conjunctiva of conjunctivochalasis up to now.Objective This study was to investigate the ultrastructure change of conjunctiva tissue in conjunctivochalasis.Methods Five loose conjunctiva samples of conjunctivochalasis and 5 normal conjunctival tissue samples were collected and ultra-microstructure changes of these samples were observed under the transmission electron microscope.Results The number of fibroblasts in conjunctivochalasis lamina was progressively decreased.The shape of fibroblasts was long and fusiform.Somatic synapse was slim.Nucleus-cytoplasm ratio was increased.Disorder,scattered and broken of the collagen fibril were seen,and some areas were dissolved or lacunae.Normal conjunctival fibroblasts were oval or polygonal,with wieners and long somatic synapse,and intercellular matrix was full of collagen fibril and dense arranged fibers.Fibroblasts in fascia of eonjunctivochalasis were linear,and collagen fibril was seriously defected.Fascia fibroblasts of normal bulbar conjunctiva were spindleshaped and bigger than conjunctivochalasis fibroblasts.There were full of collagen fibrils in intercellular matrix.Conclusions The collagen fibril is decreased and fibroblast cells are degenerated in lamina and fascia of conjunctivochalasis.

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.

More than one hundred strains of marine molds have been isolated from the sediment and the sample of seawater collected from the South China Sea. By the first screening, more than 30 strains of marine molds which can inhibit tested fungi such as Candida albicans and Fursarium sp. were obtained.The results of the second screening showed those strains designed as B 4#-6、B 4#-3、1-B 6-6、1-B 6-10-5、1-B 6-22、C 2#-5、A 2-9 and 1-B 6-10 can produced extracelluar antifungi metabolic products and the crude extract of the strains 1-B 6-10-5 and B 4#-3 can inhibit the growth of many other species of fungi.

0.05).At the late stage (8-48 h) of incubation,the presence time of E7_(49-57)/K~b was significantly pro- longed on the surface of Tat-E7_(49-57)-incubated cells than that on the surface of other peptides-incubated cells (all P