Objective This article intends to study the varieties of the prenancy associated with cardiac dis-ease, how to treat with the perinataI period and the pregnancy outcome. Methods (1)Sum up 112 sufferers' clinical data of the pregnancy associated with cardiac disease in this hospital from 1998 to 2007. (2)Analysc the varieties of the pregnancy associated with cardiac disease according to the sufferers' pathogeny. (3)Divided into two groups ac-cording to the state of an illness,80 cases are the heart function Ⅰ～Ⅱ (group A) ,32 cases are heart function Ⅲ～Ⅳ (group B) ,and contrast the two group sufferers' pregnancy outcome. Results (1)The varieties of the pregnancy associated with cardiac disease are mainly the congenital heart disease and the incompetency heart valve. (2)The rate of the uterine-incision delivered sufferers in group B is 93.8 % ,while the other one of the uterine-incision deliveredsufferers in group A is 70.0%. Compared A to B, the difference is obvious( P < 0.01 ). (3)No pregnant women is found dead in group A. 2 pregnant women were dead in group B, who was a sufferer with high blood-preasure heart-disease during pregnancy and eclampsia. (4)The dead rate of the premature delivery, neonatal asphyxia and the peri-natal in group B is 43.8% ,25.0% and 12.5%. It is obviously higher than that in group A(12.5% ,2.5% ,0).Compared A to B, the difference is obvious( P < 0.01 ). Conclusion The pregnancy associated with cardiac disease is the cause which leads to the death of the pregnant women and the perinatal babies. The canonical prenatal diagnosis,termination of pregnancy in time and the cooperation with relative sciences can improve the pregnancy outcome.

OBJECTIVE: To explore the genetic basis for a sib pair featuring 17beta-hydroxysteroid dehydrogenase type 3 deficiency. METHODS: Genomic DNA was extracted from the proband, her sister, and their parents, and was subjected to sequencing analysis with a gene panel for sexual development. Suspected variant was verified by Sanger sequencing and bioinformatic analysis. RESULTS: Both the proband and her sister were found to harbor novel compound heterozygous missense variants of the HSD17B3 gene, namely c.839T>C (p.Leu280Pro) and c.239G>T (p.Arg80Leu), which were derived respectively from their mother and father. The variants were unreported previously and predicted to be deleterious by PolyPhen2, MutationTaster and other online software. Based on the American College of Medical Genetics and Genomics standards and guidelines, both c.839T>C(p.Leu280Pro) and c.239G>T (p.Arg80Leu) were predicted to be likely pathogenic (PM2+PP1+PP2+PP3+PP4, PM2+PM5+PP1+PP2+PP3+PP4). CONCLUSION The compound heterogeneous variants of the HSD17B3 gene probably underlay the disease in this sib pair. 17beta-hydroxysteroid dehydrogenase type 3 deficiency may lack specific clinical features and laboratory index, genetic testing can facilitate a definitive diagnosis.
17-Hydroxysteroid Dehydrogenases/genetics* ; Female ; Genetic Testing ; Genomics ; Humans ; Mutation ; Mutation, Missense

Objective To investigate the antimicrobial resistance profile of the clinical isolates collected from selected hospitals across China. Methods Twenty-nine general hospitals and five children's hospitals were involved in this program. Antimicrobial susceptibility testing was carried out according to a unified protocol using Kirby-Bauer method or automated systems. Results were interpreted according to CLSI 2017 breakpoints. Results A total of 190 610 clinical isolates were collected from January to December 2017, of which gram negative organisms accounted for 70.8％ (134 951/190 610) and gram positive cocci 29.2％ (55 649/190 610). The prevalence of methicillin-resistant strains was 35.3％ in S. aureus (MRSA) and 80.3％ in coagulase negative Staphylococcus (MRCNS) on average. MR strains showed much higher resistance rates to most of the other antimicrobial agents than MS strains. However, 91.6％ of MRSA strains were still susceptible to trimethoprim-sulfamethoxazole, while 86.2％ of MRCNS strains were susceptible to rifampin. No staphylococcal strains were found resistant to vancomycin. E. faecalis strains showed much lower resistance rates to most of the drugs tested (except chloramphenicol) than E. faecium. Vancomycin-resistant Enterococcus (VRE) was identified in both E. faecalis and E. faecium. The identified VRE strains were mainly vanA, vanB or vanM type based on phenotype or genotype. The proportion of PSSP or PRSP strains in the non-meningitis S.pneumoniae strains isolated from children decreased but the proportion of PISP strains increased when compared to the data of 2016. Enterobacteriaceae strains were still highly susceptible to carbapenems. Overall, less than 10％ of these strains (excluding Klebsiella spp.) were resistant to carbapenems. The prevalence of imipenem-resistant K. pneumoniae increased from 3.0％ in 2005 to 20.9％ in 2017, and meropenem-resistant K. pneumoniae increased from 2.9％ in 2005 to 24.0％ in 2017, more than 8-fold increase. About 66.7％ and 69.3％ of Acinetobacter (A. baumannii accounts for 91.5％) strains were resistant to imipenem and meropenem, respectively. Compared with the data of year 2016, P. aeruginosa strains showed decreasing resistance rate to carbapenems. Conclusions Bacterial resistance is still on the rise. It is necessary to strengthen hospital infection control and stewardship of antimicrobial agents. The communication between laboratorians and clinicians should be further improved in addition to surveillance of bacterial resistance.