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Objective To investigate the prenatal diagnosis and prenatal genetic conselling of pseudomosaic trisomy 20. Methods One case of pseudomosaic trisomy 20 was analyzed and relative literatures were reviewed. Results A 31-year-old gravid 1, para 0 woman underwent amniocentesis at 18 weeks of gestation due to high risk of trisomy 21 during maternal serum screening in September, 2012. Interphase fluorescence in situ hybridization (FISH) of amniocytes with probes GLP13/GLP21/CSP18/CSPX/CSPY showed a normal result, while cytogenetic analysis of cultured amniocytes revealed a karyotype of 47,XY,+20[7]/46,XY[9]. The level of trisomy in the cultured amniocytes was 7/16. Cordocentesis revealed a karyotype of 46,XY in cultured cord blood cells. Interphase FISH analysis was performed using the probes D20Z1 (20p11.1-q11.1) and D20S1157/20QTEL14 (20 per/qter). Each probe showed two signals in all uncultured amniocytes. The prenatal ultrasound findings were unremarkable. The mosaicism was considered to be pseudomosaicism. After genetic counseling, the parents selected to continue the pregnancy. A healthy male baby was delivered at 39 weeks of gestation. Postnatal cytogenetic analysis revealed a karyotype of 46,XY in peripheral blood lymphocytes. Interphase FISH analysis of the uncultured buccal cast-off cells using the probes D20Z1 and D20S1157/20QTEL14 showed normal results in 100%cells. There was no phenotypic abnormality at the age of seven months. Conclusions When mosaic trisomy 20 is identified in amniocytes, further evaluation and genetic counseling are required. Interphase FISH of the uncultured amniocytes with a chromosome-specific probe is a useful tool for confirmation of the prenatal diagnosis of mosaicism. Genetic analysis of multiple tissues is required postnatally.

Aim:To construct the short hairpin small interfering RNA(shRNA) eukaryotic expression vector specific to mouse lectin like oxidized low density lipoprotein receptor 1(LOX-1) gene and to observe its silencing effect on LOX-1 in RAW264.7 cells.Methods:(1)The pLOX-1-shRNA expression vector was constructed by gene recombination,Then transfected into the cultured RAW264.7 cells.At 48 h after Transfection,the expression of LOX-1 mRNA in RAW264.7 cells were determined by semi-quantitative RT-PCR,the expression of LOX-1 proteins examined by Western blot.(2) Oil Red O Dyeing experiment was used to show the cellular lipid droplets in lipid-loaded cells.The method of cholesterol oxidase analysis was performed to determine the content of cellular cholesterol.The ability of uptake Dil-ox-LDL in RAW264.7 cells was assayed by fluorescence microscopy.Results: pLOX-1-shRNA expression vector was successfully constructed.Transfection of pLOX-1-shRNA expression vector into RAW264.7 cells down regulaled the expression level of LOX-1 gene,as compared with the control group,transfection of the RAW264.7 cells with LOX 1-shRNA led to a remarkable reduction of the number macrophages transformed into foam cell,and could suppress the uptake of ox-LDL.Conclusion:The pLOX-1-shRNA expression vector can inhibit the expression of LOX 1 in RAW264.7 cells and the transformation of the macrophages into foam,which may he beneficial in searching new gene therapy of atherosclerosis.

Objective To analyze the relationship between karyotypes and clinic features of patients with primary amenorrhea. Method Karyotype analysis of patients with primary amenorrhea was performed by using G-banding technique. Results Karyotype analysis of 468 patients with primary amenorrhea revealed that 255 patients (54. 49% ) had normal female karyotypes and 213 patients (45.51%) had abnormal karyotypes, including 143 patients with abnormal X chromosome, 4 patients with mosaic X -Y chromosome, 57 patients with 46, XY karyotype, 8 patients with abnormal autosome and one patient with Xautosome translocation. 75.52% primary amenorrhea patients with short stature had abnormal X chromosome, and all primary amenorrhea patients with deletion or break-up of Xp11. 1 - 11.4 and Xp21 - 22 were short statures. Conclusion One of the main reasons of primary amenorrhea was chromosome abnormity,especial heterosome abnormity. Karyotype analysis should be used to detect primary amenorrhea patients in regular. There might be relationship between height improvement and the abnormity of Xp11. 1 - 11.4 and Xp21 - 22.

Objective To assess the left ventricular synchronization and global systolic function in patients with implanted dual-chamber (DDD) mode cardiac pacemakers by real-time three-dimensional echocardiography(RT-3DE). Methods Left ventricular systolic synchronization and global function were evaluated in 20 patients with implanted DDD mode cardiac pacemakers and 20 normal people by RT-3DE. The left ventricular end-diastolic volume (LEDV), end-systolic volume ( LESV), stroke volume (SV), left ventricular ejection fraction (LVEF), the mean value of time from the start of electrocardiographic QRS wave to the point of minimal systolic volume (Tmean) of the 17 segments and those standard deviation(T-SD),the maximal difference of time among all 17 segments(Tmax) were obtained by RT-3DE. Results Compared with control group, LESV was significantly increased,SV, LVEF were significantly decreased and T-SD,Tmax were significantly prolonged (P <0.01 ). There were no differences in LEDV and Tmean between the two groups (P>0.05). In patients group,LVEF correlated closely with T-SD (r =-0.674, P<0.05) and Tmax (r = - 0. 634, P < 0. 05). Conclusions There were left ventrieular systolic asychronization and global systolic dysfunction in patients with implanted dual-chamber (DDD) mode cardiac pacemakers,which could be assessed by RT-3DE.

Objective To determine the serum concentration of MCP-1 and the expression of MCP-1 protein in the pancreas in the piglet with chronic obstructive pancreatitis and to explore the role of MCP-1 protein in pancreatic fibrosisits.Methods The piglet model of chronic obstructive pancreatitis was established by incomplete ligation of the pancreatic duct.The piglets were sacrificed at 4, 6, 8 weeks after induction.Pathological changes of pancreas were examined.Pancreatic fibrosis was assessed by VG staining.Serum MCP-1 concentrations were detected by ELISA method.MCP-1 and α-SMA, PDGF, TGF-β1 and NF-κB protein expression were detected by immunohistochemistry.Results The induction was successful in 14 piglets ( 58.3% ).Mild atrophic changes, interstitial fibrosis, chronic inflammatory cell infiltration could be observed in the body and tail of pancreas from the 4th week in the experimental group.The most obvious changes occurred in the 8th week.Stage Ⅰ pancreatic fibrosis occurred in 5 piglets (35.7%), stage Ⅱ in 4 piglets (28.6%), stage Ⅲ in 5 rats ( 35.7% ).Seurm MCP-1 at 4, 6, 8 weeks was ( 102.44 ± 36.25 ) pg/ml,(97.84 ± 28.67) pg/ml, ( 94.32 ± 28.42 ) pg/ml, respectively, and was significantly higher than that in control group [ ( 10.42 ±5.86) pg/ml, (8.58 ±4.86) pg/ml, (8.22 ±4.58) pg/ml, P ＜0.01 ].There was no MCP-1 protein expression in the control group;MCP-1 protein was detected in the successful induction group, and MCP-1 expression was positively correlated with expressions of the PDGF, TGF-β1, α-SMA and NF-κB.Conclusions MCP-1 may play an important role in the course of pancreatic fibrosis in chronic obstructive pancreatitis.

Objective To establish the multiple quantitative fluorescent polymerase chain reaction (QF-PCR)assay and evaluate its clinical application in prenatal diagnosis.Methods Totally 170 samples Were collected between May 2008 and July 2009 in prenatal center of Peking Union Medical College Hospital:123 of them were amniotic fluid,9 were chofionic villous samples,20 were fetal blood and 18 were villi from aborted fetuses.All samples were from women of Han nationality,with mean age of (34.1±4.6) years old,and with mean gestational age of(19.6±1.0)weeks.Cytogenetic cultures and karyotyping were made to every sample.Genomic DNA wag extracted from the samples.The sequences of twenty short tandem repeat (STR) markers were designed according to the GenBank and references,including 6 STR markers in chromosome 21.4 in chromosome 18.4 in chromosome 13,4 in chromosome X,1 in chromosome Y and 1 universal marker in both X and Y chromosome.Each sample was amplified by two sets of multiple QF-PCR,which included 4 STR markers in each of 21,18,13 and sex chromosomes. If the result was uninformative,the third set of anotherd 4 STR markers was added. Results ( 1 ) Karyotyping. Cytogenetic analysis were made for all the 170 samples, 151 (89%) of which were normal, and 19 (11% ) were abnormal (2)QF-PCR assay. 167(98% ) samples were detected by QF-PCR. The results were obtained within 2 -3 days after sampling. 134 samples were proved normal by QF-PCR, which was consistent with karyotyping. Among the 19 abnormal karyotype samples, 18 were detected as abnormal( eight were 21-trisomy, three were 18-trisomy)by QF-PCR. Among the 167 samples, 150(90% ) were detected using the first and second set of STR mixtures, and 3(2% ) were detected when the third set of STR was added. The remain 14(8% ) were uninformative. (3) The diagnostic efficiency of QF-PCR. The sensitivity of QF-PCR in prenatal diagnosis of common aneuploidities was 95%, the specificity, the false positive rate, the false negative rate, the positive predictive value and negative predictive value were 100% ,0,5%, 100% and 99% , respectively. (4)Autusome and sex chromosome detection by QF-PCR. Among all the STR markers,D21S1270 and D21S1411 had the highest heterozygosifies in chromosome 21, and DXS8377 had the highest in sex chromosome. The amplifications were stable. Conclusion Multiple QF-PCR assay is a valid alternative in rapid prenatal diagnosis of common chromosome aneuploidies. With high accuracy, it can be used for numerous sample test in large-scale laboratories.

Objective To investigate the effective indicators for the prognosis assessment in pa?tients with multiple myeloma (MM) by 18F?FDG PET/CT imaging. Methods A total of 36 patients(22 males, 14 females;median age 63.5 years) with MM confirmed by clinical or pathology from July 2007 to November 2014 were retrospectively reviewed. The number of lesions detected by PET/CT, the number of lesions with SUVmax>2.5, the SUVmax and MTV of each lesion were calculated. The correlation analysis was performed between the number of lesions detected by PET or CT,the number of lesions with SUVmax>2.5, the SUVmax , MTV and serumβ2?microglobulin (β2?M) , respectively. The patients were divided into differ?ent groups according to the development of lesions and the survival situation during the follow?up ( 4-92 months) . Kaplan?Meier analysis and multivariate Cox model were used to analyze the prognostic significance of the number of lesions detected by PET or CT and the number of lesions with SUVmax>2.5, the SUVmax and MTV. Results Both the number of lesions with SUVmax>2. 5 and MTV showed positive correlations with blood β2?M (r=0.776, 0.954, both P<0.001), while the number of lesions detected by PET/CT and SUVmax were not correlated with β2?M ( r=0.053, 0.063, 0.398, all P>0.05) . The number of lesions with SUVmax>2.5 and MTV in the progressive group( n=14) were significantly higher than those in the regressive group(n=22):66.57±4.59 vs 31.95±4.75, t=4.95, P<0.001;(287.54±31.94) cm3 vs (72.17±14.35) cm3, t=6.93, P<0.001. The number of lesions with SUVmax>2.5 and MTV were significantly higher in the dead group(n=15) than those in the survival group(n=21):65.73±4.32 vs 30.90±4.87, t=5.10, P<0?001;(267.28±34.89) cm3 vs (76.39±15.67) cm3, t=5.49, P<0.001. The best cutoff values for predicting pro?gression?free survival and overall survival were both 42 for the number of lesions with SUVmax>2. 5, and those were 114.74 and 105.48 cm3 for MTV, respectively. The progression?free survival rate was worse in the patients with higher index than those with lower value (χ2=18.20, 29.74, both P<0.001) , and the same re?sult was also seen for the overall survival rate (χ2=19.07, 25.34, both P<0.001) . Conclusion The number of lesions with SUVmax>2.5 and MTV on 18 F?FDG PET/CT images could predict the progression?free survival and overall survival rates of patients with MM, which may provide accurate prognosis information.

Objective To evaluate the residual risk (i.e.failure risk in detecting aneuploidies abnormalities except for chromosome 13,18,21,X and Y) of cytogenetic abnormalities using interphase fluorescence in situ hybridization (FISH) for the second-trimester amniocytes.Methods The results of interphase FISH and conventional karyotyping of 2 837 consecutive amniotic fluid specimens were analyzed retrospectively.Probes for chromosomes 13,18,21,X and Y were used.The detection rate and residual risk for interphase FISH were calculated for the following three major clinical indications for prenatal diagnosis (advanced maternal age,abnormal maternal serum screening indicating an increased risk for trisomy 18 or trisomy 21,and ultrasound abnormalities).Results Consecutive interphase FISH and karyotyping of second-trimester amniocytes for prenatal diagnosis were performed from January 1,2010 to July 31,2013.Among the 2 837 cases,85 (3.0％) cases with abnormal karyotypes were found,including 73 cases of aneuploidies involving chromosome 13,18,21,X and Y,which were considered detectable by interphase FISH; 12 cases of chromosomal anomalies,other than aneuploidies of chromosome 13,18,21,X and Y,were diagnosed after karyotyping and were not detected by interphase FISH,including six cases of balanced rearrangements,five cases of imbalanced rearrangements,and one case of pseudomosaic of trisomy 20.Of these 12 chromosomal anomalies,three cases of imbalanced rearrangements involving chromosome 21 showed positive FISH results,and the other nine cases showed negative FISH results among which four case of hereditary balanced rearrangemerts and two cases of novel balanced rearrangements.The total detection rate for interphase FISH was 89.4％ (76/85),the misdiagnosis rate of chromosome abnormalities was 14.1％(12/85),and the residual risk was 0.43％ (12/2 761) following interphase FISH of the second-trimester amniocytes.Conclusions Interphase FISH is a useful adjunct to conventional karyotyping,but should not be regarded as a replacement for karyotyping as too many structural chromosomal abnormalities will be missed.Providing patients with a detection rate and residual risk during counselling may help them understand the advantages and limitations of interphase FISH in their prenatal diagnostic evaluation.

Objective To investigate the expression of periostin in the kidneys of rats with obstructive nephropathy and its relevance to renal interstitial fibrosis.Methods Eighteen male adult SD rats were randomly divided into sham group,model group and benazepril group (6 in each group).Unilateral ureteral obstruction (UUO) model was induced by ligating the left ureter of rats.RT-PCR was used to detect the mRNA expressions of periostin and TGF-β1,and ELISA to detect the protein expression of periostin,Ang Ⅱ,and TGF-β1 in kidney tissue.Pathological changes of renal tissue were observed by HE and Masson staining.The protein expression of collagen Ⅰ (Col Ⅰ ) in kidney tissue was examined by immunohistochemical staining.Results The mRNA expressions of periostin and TGF-β1 in model group increased markedly as compared with sham group (all P＜0.05),and benazepril could decrease these mRNA expressions (all P＜0.05).The protein expressions of periostin,Ang Ⅱ and TGF-β1 in kidney tissue were significantly increased in model group as compared with sham group (all P＜0.05),and benazepril could decrease these protein expressions (all P＜0.05).The expression of periostin in kidney tissue was positively correlated with the expressions of Ang Ⅱ,TGF-β1 and Col Ⅰ,as well as the degree of renal interstitial fibrosis (r=0.652,0.781,0.776 and 0.825 respectively,all P ＜0.05).Conclusion Periostin expression is up-regulated in kidney tissue of rats with obstructive nephropathy,which is associated to the over-deposition of extracellular matrix (ECM) in the kidneys of UUO rats.