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Objective:To confirm the potential etiological factors of congenital aortic stenosis(AS)by genetic analysis on prenatal diagnostic results of the fetus with AS.Methods:Amniocentesis for chromosomal G-band karyotyping combinated with single nucleotide polymorphism array(SNP-array)analysis was conducted on the amniotic fluid collected from a 25-week pregnant woman diagnosed as"fetus AS";chromosome karyotyping was also performed on the peripheral blood of the fetal parents.Results:The fetal karyotype analysis showed a chimeric Y-chromosome isobaric double-adherent granules.The SNP-array analysis results revealed a 11.2 Mb duplication in the Yp11.31q11.21 region and a 14.8 Mb deletion in the Yq11.21q11.23 region.Both the parents presented a normal karyotype,suggesting it was a newfound mutation.After extensive genetic counseling,the pregnant woman and her family chose to terminate the pregnancy locally.Conclusion:The chromosomal karyotype of the chimeric Y-chromosome isobaric double-adherent granules may be a contributing factor to the AS phenotype in the male fetus.The combined use of chromosomal karyotyping and SNP-array analysis on the amniotic cells is instrumental in the early diagnosis of the disease.
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Smith–Magenis syndrome (SMS, OMIM: 182290) is a multiple congenital anomalies and intellectual disability syndrome due to a 3.45 Mb microdeletion involving 17p11.2 and is estimated to occur about one in 25,000 births. Up to now, the ultrasound findings of the foetus with SMS and their external genital defects in patients are rarely reported. This case indicates that foetus with SMS may present polyhydramnios and ventriculomegaly in the second trimester. The newborn male patient had an abnormal phenotype in which he has micropenis and his anus is close to the perineal body. The identification of this case may further expand the phenotypic spectrum of this genetic disorder.
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Objective:To explore the effects of voriconazole on the proliferation and morphology of Acanthamoeba cultivated in vitro,and to clarify the killing effects of voriconazole against the trophozoites and cysts of Acanthamoeba.Methods:The Acanthamoeba polyphaga at logarithmic phase were selected and divided into control group and experiment groups(2.5 and 25.0 mg·L-1).The Acanthamoeba in each group was collected at 24,48,72,and 96 h after drug administration,respectively.Then the concentrations of Acanthamoeba were calculated and the proliferation curves were drawn;inverted microscope was used to observe the morphology,activity and adherence of Acanthamoeba;the ultrastructures of Acanthamoeba were observed under electron microscope.Results:Compared with control group,the numbers of Acanthamoeba polyphaga in experiment groups were significantly decreased(P<0.01).The morphology of Acanthamoeba changed significantly under inverted microscope,and the shape of Acanthamoeba transformed from the trophozoites with irregular spiny filopodia to circular cysts.Even a large number of cell debris was observed.Different degrees of damage and even necrosis of Acanthamoeba in experiment groups were found under electron micro scope.Conclusion:Certain concentration of voriconazole can effectively inhibit the proliferation of Acanthamoeba and change the morphology and ultrastructure and kill the trophozoites and cysts of Acanthamoeba cultivated in vitro.
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Objective To analyze the tend of hospital infection ,to understand the hospital infection control situation and pro‐vide a scientific basis for hospital infection prevention and control .Methods Investigation by the bed in combination with case in‐vestigation form 2012 to 2014 ,and the data of three consecutive years were analyzed by statistical analysis .Results In 2012 ,2013 and 2014 ,the hospital infection rates were 4 .15% ,3 .38% and 2 .76% respectively ,there was no statistically significant difference (χ2 =3 .908 ,P=0 .142) .Hospital infection site mainly respiratory tract(61 .33% ) ,followed by the digestive tract(16 .67% ) and u‐rinary tract(6 .67% ) ,different parts of the infection rate after statistical tests ,the difference had no statistically significant (χ2 =12 .167 ,P=0 .239);Different departments category incidence of hospital infection ,infection rate of internal system presented the declining trend ,in 2012-2014 by the statistical tests ,the difference had statistically significant(χ2 =8 .347 ,P=0 .015) .Conclusion Continuous observation of hospital infection rates helps to understanding the trend of hospital infection ,finding focus of infection , improving the method of hospital infection management .
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Objective To evaluate the efficacy and safety of labor induction by the double balloon device in women with preeclampsia and eclampsia.Methods Labor induction was carried out in 37 women with preeclampsia and eclampsia from July 2011 to November 2012.All the labor inductions were performed using the double balloon device.Results The cervical Bishop scores of 37 cases of patients with preeclampsia and eclampsia were significantly lower before using double balloon device [(3.38 ± 0.50) scores] compared with after using double balloon device [(6.44 ± 0.63) scores] with a statistically significant difference (t =23.54,P ＜0.01).Blood pressure had no obvious change before and after using double balloon device [SBP(158.38 ± 13.89)mmHg vs (162.48 ± 12.56)mmHg,P ＞ 0.05,and SDP(112.71± 15.53) mmHg vs (108.19 ± 8.37) mmHg,P ＞ 0.05].The rate of vaginal delivery was 89.2％ (33/37),and the total hours of labor were (5.8 ± 0.63) h.Compared with selective cesarean section,vaginal delivery after double balloon to promote cervical mature had less blood loss (t =9.19,P ＜0.01),quicker postpartum recovery,shorter hospitalization time (t =11.18,P ＜ 0.01),lower birth body mass (t =2.96,P ＜0.01) and higher scores of 1 minutes Apgar score (t =2.34,P ＜0.05).Conclusions The double balloon device appeared to be a safe and effective method to induce labor in women with preeclampsia and eclampsia.Wide scale studies and further use of the device for labor induction in women with preeclampsia and eclampsia were warranted.