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This article reports a pedigree with two previously deceased neonates. Both neonates did not experience asphyxia but passed away on their 5th and 13th day of life. The chromosomal analysis of the parents' karyotype revealed no abnormalities. Clinical manifestations of the two deceased cases and relevant medical records were recollected. Whole exome sequencing was conducted on the stem blood sample of Neonate 2, revealing a c.729_730insTT homozygous mutation (p.D244Lfs*39) in the methylmalonyl-CoA mutase gene (NM_000255). It was confirmed that Neonate 2 was affected with methylmalonic acidemia. Amniocentesis was performed at 20 +3 weeks in the current pregnancy. Sanger sequencing of amniotic fluid indicated that the fetus carried the same gene mutation as Neonate 2. Consequently, the fetus was expected to be a patient with methylmalonic acidemia and to exhibit the same phenotype as Neonate 2. Termination of pregnancy, therefore, was selected at 24 weeks of gestation.
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Objective To investigate the effect of di-( 2-ethylhexyl ) phthalate (DEHP) on pregnant rat and the protection of zinc.Methods Fifty rats were randomized equally into 5 groups consisting of blank (given 1 ml 0.9％ sodium chloride),corn oil (given 1 ml corn oil),zinc (given 1 ml zinc gluconate including 1.2 mg zinc),DEHP (given 50 mg · kg-1 · d-1 DEHP)and DEHP + zinc (given 50 mg· kg-1 · d-1 DEHP + zinc gluconate ).At the beginning of the experiment (about 7 d before pregnancy),the female rats were administered with corresponding drugs everyday.The pregnant rats were killed and the fetal rats were removed on 19th day.The following results in each group were recorded:the body weight and the organic weight of the female rats,the number and the weight of fetus rats and the placental weight.Results The weight and the coefficient of female rats' kidney/body,spleen/body,brain/ body,and heart/body in DEHP group compared with other groups were not statistical significance (all P ＞0.05).The coefficient of female rats' liver/body,uterus/body,and ovary/body of blank group were (4.4 ± 0.7 ) ％,( 1.26 ± 0.09 ) ％,( 0.083 ± 0.009 ) ％ respectively,corn oil group were (4.5 ± 0.6 ) ％,( 1.29 ±0.10)％,(0.084 ±0.008)％,zinc group were (4.4 ±0.4)％,( 1.26 ±0.08)％,(0.084 ± 0.009 ) ％,DEHP group were ( 5.4 ± 1.0 ) ％,( 1.11 ± 0.08 ) ％,( 0.074 ± 0.012 ) ％,and DEHP + zinc group were (4.4 ± 1.0)％,( 1.28 ± 0.10)％,(0.082 ± 0.007)％ ; in DEHP group the coefficient of female rats' liver/body,uterus/body,and ovary/body compared with other groups was statistical significance ( P ＜ 0.05 ).The fetal quantity,fetal weight and placental weight of female rats of blank group were 12.8 ± 2.7,(6.03 ±0.16) g,( 1.00 ±0.03) g respectively,corn oil group were 13.6 ±3.1,(6.07 ±0.20) g,(1.00±0.04) g,zinc group were 13.3 ±3.1,(6.16 ±0.18) g,( 1.00 ±0.05) g,DEHP group were 9.2±4.1,(4.03 ±0.09) g,(0.95 ±0.03) g,and zinc +DEHP group were 12.1 ±2.9,(6.09 ± 0.17 ) g,(0.99 ±0.03 ) g.In DEHP group the fetal quantity,fetal weight and placental weight of female rats compared with other groups were statistical significance ( P ＜ 0.05 ).Conclusion DEHP can damage female rats and fetal rats in gestation period.Zinc supplied before pregnancy can relieve the influence by DEHP.
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Objective To study the inhibitory effect of recombinant adenoviruses carrying the mouse endostatin gene on the therapy of endometriosis in nude mice.Methods Animal endometriosis models were established by inoculating human endometrial fragments.Mice were randomly divided into three groups(10 each):PBS control group,Ad-lacZ group and Ad-mEndo therapy group when ectopic lesion diameter reached 5-10mm.The ectopic lesion size was measured every day.The expression of endostatin in ectopic lesion was detected by immunohistochemical stainining.The microvessel density(MVD) of ectopic lesion was traced by CD34 immunohistological labeling.Meanwhile,the contents of steroid hormone and histological changes in mice uterus and ovary were detected.Results The titer of the recombinant adenovirus was about 5.0?109pfu/ml.The endostatin gene was transferred into mice successfully and expressed effectively.The lesion volume was significantly less in Ad-mEndo group(34.3?11.2mm3) than that in Ad-lacZ group(93.3?10.7mm3) and PBS group(90.4?18.7mm3,P