Association of Bone Turnover Levels with MTHFR Gene Polymorphisms among Pregnant Women in Wuhan, China

Pregnancy is a critical stimulator of bone mineral resorption. We used to find the MTHFR gene polymorphisms are related with blood lead levels among pregnant women. Pregnancy-stimulated bone turnover may be associated with MTHFR gene polymorphisms too. In this article, we aimed to determine the relationship between MTHFR gene polymorphisms and bone turnover rates among the pregnant women. The participants including pregnant and non-pregnant women were selected and recruited during their routine prenatal or physical examination from July to October in 2012. A total of 1000 participants, including 250 pregnant women in the first, second, and third trimesters and 250 non-pregnant women, were enrolled in the study. Finally, after excluding 27 participants unable to provide blood samples, 973 eligible participants （i.e., 234, 249, and 248 pregnant women in the first, second, and third trimesters, respectively, and 242 non-pregnant women） were included in the research. The MTHFR gene 1298CC homozygote carriers were more susceptible to yield higher plasma homocysteine levels than the 1298AA/AC carriers, with standardized coefficients of 0.086 （P〈0.05） and 0.104 （P〈0.01） of all the participants and the pregnant women, respectively. The MTHFR gene 1793AA homozygote carriers more likely showed higher plasma osteocalcin levels （standardized β=0.091, P〈0.01） than the 1793GG/GA carriers among all the subjects. Plasma homocysteine levels were positively correlated with blood lead levels among the participants and the pregnant women with standardized coefficients of 0.320 （P〈0.01） and 0.179 （P〈0.01）, respectively. Plasma osteocalcin levels were positively associated with blood lead levels among pregnant and non-pregnant women with standardized coefficients of 0.084 （P〈0.05） and 0.125 （P〈0.01）, respectively. In conclusion, homocysteine and osteocalcin contents in plasma are associated with the MTHFR gene A1298C polymorphism and blood lead levels among pregnant women. The MTHFR gene A1298C polymorphism-related homocysteine is a possible risk factor for increased blood lead levels among Chinese women.

Study on the correlation of MLCK and FAP expression with uterine fibroid cell proliferation and invasion

Objective:To study the correlation of myosin light chain kinase (MLCK) and fibroblast activation protein (FAP) expression with uterine fibroid cell proliferation and invasion. Methods:Uterine fibroids samples and normal uterine muscle samples next to fibroids that were surgically removed in Wuhan Red Cross Hospital between May 2014 and January 2017 were chosen, fluorescence quantitative PCR kits were used to deterct MLCK and FAP mRNA expression, and enzyme-linked immunosorbent assay kits were used to determine proliferation and invasion gene protein expression.Results: MLCK and FAP mRNA expression in uterine fibroids samples were significantly higher than those in normal uterine muscle samples, and Survivin, Livin, Bcl-2, Snail, N-cadherin and MMP2 protein expression were significantly higher than those in normal uterine muscle samples;Survivin, Livin, Bcl-2, Snail, N-cadherin and MMP2 protein expression in uterine fibroids samples with high MLCK and FAP expression were significantly higher than those in uterine fibroids samples with low MLCK and FAP expression.Conclusion: Highly expressed MLCK and FAP in uterine fibroids can promote the proliferation and invasion of uterine fibroids.

Pulmonary fungal infection in a neonate with methylmalonic acidemia:A case report

BACKGROUND Methylmalonic acidemia(MMA)is characterized by non-specific symptoms such as vomiting,and feeding difficulties,along with delayed mental and physical development.However,no case of MMA combined with pulmonary fungal infection has been reported yet.CASE SUMMARY We report the case of a neonate who presented pulmonary fungal infection along with the non-specific features of MMA.Exome sequencing revealed a c.331C>T variant in exon 3 of MMACHC from the father,and a c.658-c.660delAAG variant in exon 4 from the mother,which confirmed the diagnosis of cblC type MMA combined with hyperhomocysteinemia.CONCLUSION Invasive fungal infection might occur in some infants with MMA.Therefore,early diagnosis is recommended for unexplained pulmonary infection.

Twin Reversed Arterial Perfusion Sequence:Prenatal Diagnosis and Treatment

Twin reversed arterial perfusion sequence,a severe and unique complication of monochorionic multiple pregnancy,is characterized by vascular anastomosis and abnormal or absent cardiac development in the twins.This article reviewed its pathogenesis,prenatal ultrasound diagnosis,and management.The pump twin’s chances for survival can be maximized by proper management.The optimal timing of the interventions remains a debate,although the latest studies encourage early intervention,i.e.,in the first trimester.The most preferred approach is to interrupt the vascular supply to the acardius,such as through ultrasound-guided laser coagulation and radiofrequency ablation of the intrafetal vessels.

Ultrasound Screening of Fetal Anomalies at 11-13^(+6)Weeks

During the past decades,early fetal ultrasound and diagnosis have increasingly gained attention in pregnancy care with the development of high-frequency transducers,which make it possible to obtain detailed images of the early fetus and its organs,and thus move part of the anatomy and anomaly scan from the second to the first-trimester.By transabdominal sonography or transvaginal sonography,or a combination of both approaches,it is now able to diagnose a wide variety of fetal abnormalities at 11-13^(+6)weeks.