Objective To study the clinical significance of chromosome karyotyping in pregnant women with a history of abnormal pregnancy. Methods The fetal chromosome karyotypes of 1 193 pregnant women with a history of abnormal pregnancy in Peking University First Hospital from January 4, 2005 to December 31, 2013 were analyzed. According to the etiology of their previous abnormal pregnancy, these women were divided into four groups: 273 women had children with inherited metabolic disorders or single-gene genetic diseases (group A), 81 women had children or fetuses with chromosome abnormalities (group B), eight cases had an abnormal chromosomal karyotype in either husband or wife (group C), and 833 women had abnormal pregnancy of unknown causes(group D). Results Forty-eight [4.0%(48/1 193)] and fetuses were found to have abnormal chromosomal karyotypes, including 26 cases of chromosome polymorphism variations and 22 cases of numerical and structural abnormalities (four cases of trisomy 21, four cases of numerical sex chromosome abnormalities, three cases of trisomy 18, three cases of extra small chromosome mosaicism, three cases of reciprocal translocation, one case of Robertsonian translocation, one case of chromosome six inversion between the arms, one case of chromosome three inversion between the arms, one case of mosaicism of trisomy 14 and one case of structural abnormality of chromosome 14). In group A, four cases (1.5%) of chromosomal abnormalities of clinical significance and four cases of chromosome polymorphism variations were detected. Meanwhile, 61 fetuses with inherited metabolic disorders or single-gene genetic diseases and two cases of gene mutation carriers were detected in group A, but among whom, there were no abnormal chromosome karyotype cases. In group B, two cases (2.5%) of chromosomal abnormalities were found. In group C, two cases (2/8) of reciprocal translocation were found, whose karyotypes were the same as the parents. In group D, three cases of trisomy 21, three cases of trisomy 18, two cases of extra small chromosome mosaicism and two cases of numerical sex chromosome abnormalities were found. All the mothers in this group were of advanced age. Four cases of structural abnormalities and 22 cases of chromosome polymorphism variations were also found in this group, chromosomal analysis was subsequently performed in those couples, and found that the abnormal chromosomal karyotypes in the fetuses were the same as those in the parents. Conclusions Appropriate prenatal cell genetic diagnostic methods should be chosen according to the causes of abnormal pregnancy history.

This study aims to investigate the preparation process and in vitro release behavior of artesunate polylactic acid microspheres, in order to prepare an artesunate polylactic acid (PLA) administration method suitable for hepatic arterial embolization. With PLA as the material and polyvinyl alcohol (PVA) as the emulsifier, O/W emulsion/solvent evaporation method was adopted to prepare artesunate polylactic acid microspheres, and optimize the preparation process. With drug loading capacity, encapsulation efficiency and particle size as indexes, a single factor analysis was made on PLA concentration, PVA concentration, drug loading ratio and stirring velocity. Through an orthogonal experiment, the optimal processing conditions were determined as follows: PLA concentration was 9. 0% , PVA concentration was 0. 9% , drug loading ratio was 1:2 and stirring velocity was 1 000 r x min(-1). According to the verification of the optimal process, microsphere size, drug loading and entrapment rate of artesunate polylactic acid microspheres were (101.7 +/- 0.37) microm, (30.8 +/- 0.84)%, (53.6 +/- 0.62)%, respectively. The results showed that the optimal process was so reasonable and stable that it could lay foundation for further studies.
Artemisinins ; chemistry ; Calibration ; Drug Compounding ; methods ; Lactic Acid ; chemistry ; Microspheres ; Polyesters ; Polymers ; chemistry ; Polyvinyl Alcohol ; chemistry

Objective To evaluate the trend in prenatal diagnosis of single gene disorders (SGD) and role ofmultidisciplinary cooperative mode.Methods In January l,2012,amultidisciplinarycooperativemode for SGD diagnosis was established in the Peking University First Hospital,involving Departments of Obstetrics,Pediatrics,Neurology,Dermatology and Central Laboratory.For each pregnant woman with a family history of SGD for prenatal diagnosis,propositus should be diagnosed in the relevant departments,and then further diagnosed,managed and followed up by the Obstetrics Department.Up to December 31,2014,of 6 681 women for prenatal diagnosis,279 women had a family history of SGD:76 of them received chorionic villus sampling (CVS) at 11-14 gestational weeks,and 203 received amniocentesis (AC) at 16-22 gestational weeks.The trend in SGD diagnosis and the safety of CVS and AC were analyzed using Chi-square test.Results The proportion of SGD family history in AC group was 3.2％ (203/6 355),which stayed stable with 2.3％ (47/2 054) in 2012,3.9％ (78/2 023) in 2013 and 3.4％ (78/2 278) in 2014,and there was no significant difference between 2013 and 2014 (x2=0.571,P=0.463).In CVS group,the proportion of SGD family history was 23.3％ (76/326),showing an increasing trend with 18.2％ (8/44) in 2012,17.6％ (19/108) in 2013 and 28.2％ (49/174) in 2014,and there were significant differences between 2013 and 2014 (x2=4.067,P=0.046).The proportion of SGD family history in CVS group was higher than in AC group in year 2012,2013 and 2014 (x2＝42.626,44.531 and 201.400,all P=0.000).Among the 279 cases of SGD family history,no complications and adverse outcome were observed except an intra-uterine fetal death occurring 6 months after CVS in one woman,but 3 fetuses were found to have chromosome anomalies with one trisomy 18,one 45,X,and one mosaicism of 45,X/46,XY which was determined to be normal by AC.Conclusions SGD family history is one of the important indicators in prenatal diagnosis,and CVS is feasible for prenatal diagnosis of SGD family history as early as in the first trimester.Multidisciplinary cooperative mode is helpful in SGD family history diagnosis.

Objective To understand the correlation between chromosome deletion and the phenotypes in cases of ring chromosome 6 syndrome.Methods Two cases of ring chromosome 6 syndrome persented to the Peking University First Hospital in 2013 were studied.Case 1 was a fetus diagnosed as having ring chromosome 6 with karyotype 46,XY,r (6) [14]/46,XY,r (6; 6) [1]/45,XY,-6[15] from a pregnant woman who received prenatal examination because of high risk found in serum screening for Down's syndrome at 21 +1 weeks of gestation.Case 2 was an eight-month-old female infant with growth retardation and congenital facial anomaly,whose karyotype was 46,XX,r (6) /47,XX,r (6) × 2/46,XX,r (6; 6) /45,XX,-6.Multiplex ligation-dependent probe amplification and array-based comparative genomic hybridization were used to detect the location of chromosome telomeric loss and its size,and the correlation between chromosome deletion and the phenotypes was analyzed by reviewing related literatures.Results Case 1 was confirmed to have short-arm terminal deletions on 6p25.3-25.2 (2.42 Mb) which mainly included DUSP22,IRF4,EXOC2,FOXC1,FOXF2 and FOXQ genes,and long-arm terminal deletions on 6q26-27 (7.84 Mb) mainly included PARK2,PACRG,LOC28596 and RPS6KA2 genes.Case 2 had short-arm terminal deletions on 6p25.3-25.1 (5.44 Mb) which included DUSP22,IRF4,EXOC2,FOXC1,FOXF2,FOXQ and SERPINB6 genes,and long-arm terminal deletions on 6q27 (0.16 Mb) which included PSMB1,TBP and PDCD2 genes.Except for the growth retardation,the common feature of ring syndrome,in both cases,cerebellum hypoplasia was observed in case 1,and microcephaly and esotropia were observed in case 2.Conclusions The difference of phenotypes in patients with a ring chromosome 6 is closely associated with the location and size of the deletion in chromosome 6.

Objective To study the diagnostic value of common inflammatory markers in patients with infectious diseases. Methods One hundred sepsis patients, 100 viral infection patients,100 pulmonary tuberculosis patients and 100 gonorrhea patients were analyzed retrospectively. The contents of procalcitonin (PCT), C-reactive protein (CRP), haptoglobin (HP), ceruloplasmin (CER), α1-acid glycoprotein (α1-AAG), α1-antitrypsin (α1-AAT), white blood cell count (WBC) and erythrocyte sedimetation rate (ESR) were measured. The receiver operating characteristic curve (ROC curve), sensitivity, specificity, positive predictive value, negative predictive value, Youden's index,positive and negative likelihood ratios and total coincidence rate were calculated respectively. Results The area under the ROC curve, sensitivity, specificity, Youden's index and positive likelihood ratios,positive predictive value and total coincidence rate of PCT in sepsis patients were 0. 895, 0.84, 0.92,0.76, 10.50, 0.91 and 0.88, respectively, which were superior to CRP, HP, CER, α1-AAG, α1-AAT, WBC and ESR. Conclusions PCT is a better inflammatory reactive parameter than other parameters currently applied in practice and may serve as a rapid and sensitive test in the early stage of severe bacterial infections.

Objective To analyze the clinical application of fluorescence in situ hybridization ( FISH) and karyotype analysis in prenatal diagnosis of chromosomal abnormalities .Methods The prenatal diagnosis of chromosome aneuploidies by FISH analysis of chromosome-specific probes (chromosome 13,18, 21,X,Y) in interphase amniocytes of 1 809 pregnant women of 17-38 weeks of gestational age was used , comparisons with the karyotyping results was done simultaneously.All the 1 809 cases came from Peking University First Hospital from July 1,2012 to December 31,2013, and the relevant clinical data and birth follow-up information were collected.Results All the 1 809 cases had been successfully examined by FISH , including 1 767 normal cases and 42 cases of numerical abnormality (39 cases of aneuploid, 1 case of triploid and 2 cases of mosaicism),which were consistent with the karyotyping analysis .What′s more,34 cases of chromosomal structural abnormalities , 5 cases of chimera and 12 cases of normal variant were failed to detected by FISH.Conclusion With the advantages of high-speed,simplicity,high accuracy,etc,FISH can be an effective tool in clinical applications , and had great significances in cytogenetic prenatal diagnosis combined with karyotyping analysis.

Objective To analyze the feasibility of rapid prenatal diagnosis in the advanced maternal age women with or without positive serologic screening results.Methods We conducted a retrospective study of the women who underwent a mid-trimester amniocentesis in Peking University First Hospital from January 1,2001 to December 31,2012.Maternal age,indication for invasive prenatal diagnosis,karyotyping and pregnancy outcome were documented.Using a young population with high risk in serologic screening (S) as the standard,chromosome abnormalities in the advanced maternal age (A) group and the advanced maternal age with high risk in serologic screening (A+S) group were compared with the S group.Chromosome abnormalities were divided into detectable (D) and undetectable (U) during rapid prenatal diagnosis.Results Of 9 606 cases,222 (2.3％,222/9 606) cases with chromosome abnormalities were detected,23.0％ (51/222) of which were undetectable by rapid prenatal diagnosis.The detection rate of detectable chromosome abnormalities was 1.8％ (57/3 177) in group A,1.4％(13/925) in group A+S,and 1.8％(57/3 250) in group S (x2=0.662,P＞0.05).The rate of undetectable chromosome abnormalities was 0.5％ (15/3 177) in group A,0.3％ (3/925) in group A+S,and 0.5％ (16/3 250) in group S (x2=0.452,P＞0.05).The most common indications for undetectable chromosome abnormalities in the young population were abnormal history of pregnancy,abnormal family history and chromosome abnormality history (16.4％,9/55),and abnormal ultrasound in the advanced maternal age population (4.4％,3/68).Conclusions The performance of rapid prenatal diagnosis in the advanced maternal age population with or without high risk in screening without abnormal findings in ultrasound,was similar to the young population with high risk in screening.Fluorescent in situ hybridization may be integrated into the strategy of prenatal diagnosis for this group of women.

OBJECTIVE To analyze the pathogen distribution and resistance pattern of the positive clinical sputum specimens in our hospital.METHODS The bacteria and fungi were identified by API system.The susceptibility of antimicrobial and antifungal agents was tested by KB and Rosco disk diffusion method and the data were analyzed by WHONET 5.4 software.RESULTS In 2008,in our hospital,the majority of the positive specimens were distributed among cerebral surgery department,intensive care unit(ICU),respiratory and pediatric departments.The pathogens of the eight highest isolating rate were Pseudomonas aeruginosa(20%),Candida albicans(18%),Acinetobacter baumannii(10.7%),Staphylococcus aureus(6.5%),Klebsiella pneumoniae(6%),Enterobacter cloacae(4%),Haemophilus influenzae(3.8%),and Stenotropho maltophilia(3.5%).In view of the resistance,no Staphylococcus species were resistant to vancomycin,but they were resistant to many other antimicrobial agents.Gram-negative Enterobactericaeae were sensitive to carbapenems,cefoperazone/sulbactam and piperacillin/tazobactam.Among nonfermenters,P.aeruginosa and S.maltophilia were resistant to the most antimicrobial agents while Acinetobacter were comparatively sensitive to carbapenems and cefoperazone/sulbactam.CONCLUSIONS The pathogens in lower respiratory tract infections have a high resistance rate to many antimicrobial agents.In view of the seriousness of this problem,we should emphasis on it and select antimicrobial agents rationally.

OBJECTIVE To study the mutation profiles of hepatitis B virus(HBV) in the core regions.METHODS Based on the sequence alignment of all HBV genotypes,specific primers targeting all HBV genotypes were designed to amplify the core region of HBV followed by sequence analysis on the sequencing data available.RESULTS Among the 34 cases,23 cases showed mutations in the core region.According to the mutation profiles,the most common mutations were the A1762T(50.0%) and G1764A(52.9%) in the basic core promoter(BCP) regions,and it always showed as double mutations.The L60V in core gene regions was the secondary common mutations(17.6%).Among all patients,there were 18,6 and 10 cases showed mutations in BCP,pre-core,and core gene regions,respectively.The most common mutations in BCP,pre-core,and core gene regions were the double mutations at A1762T and G1764A(94.7%),G1896A(83.3%),and L60V(50.0%),respectively.CONCLUSIONS The most common mutations in the core region of HBV are the double mutations at A1762T and G1764A.Analysis on the mutation profiles of HBV core regions might be helpful for the prognosis and prediction of HBV infections.

Objectives To provide prenatal diagnosis and genetic counseling for four athigh-risk pregnant women with a suspected family or personal history of fragile X syndrome (FXS) by genetic screening of fragile X mental retardation (FMR1) gene.Methods This study was conducted on four pregnant women (No.l to 4) who received outpatient treatment in Peking University First Hospital from August 2014 to June 2016.Genomic DNA was extracted from peripheral blood samples of the pregnant women and six of their family members,four of which were suspected or confirmed FXS and the other two were FMR1 gene carriers.Amplide X kits were used to detect CGG repeat size in FMR1 gene.Two amniocytes and one chorionic villi samples were collected from three pregnant women to extract DNAs for FMR1 gene and karyotyping analyses.Results There were patients diagnosed with FXS in all the families by detecting CGG repeat numbers in FMR1 gene.The pregnant woman No.1 was a permutation carrier;No.2 carried normal FMR1 alleles while her brother had a mutation with over 20 CGG repeats in FMRI gene at chromosome X.No.3 and 4 were full mutation carriers with over 200 CGG repeats in FMR1 gene.After genetic counseling,No.3 decided to terminate the pregnancy due to abnormal fetal karyotype (47,XY,+21) and full mutation of FMR1 alleles.No.1 and 4 continued to pregnancy as their fetuses were normal in FMR1 alleles and karyotype.No.2 continued to pregnancy as her fetus was free of FXS risk.Conclusions Prenatal diagnosis and genetic counseling should be conducted on women at highrisk for FXS to avoid birth defects.People with a family history of FXS should be tested for FMR1 gene carrier status.