ABSTRACT
Ectrodactyly-ectodermal dysplasia-cleft (EEC) syndrome is an autosomal dominant disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefting. Reduced penetrance is manifested in these core features and additional under-recognized features, especially in prenatal cases. Here, we present a fetus with EEC syndrome at 22 weeks gestation, in which the cleft lip and palate and the right polycystic kidney are shown by prenatal ultrasound. A de novo missense mutation of R304W in the TP63 gene is confirmed by whole-exome sequencing associated with EEC syndrome. We further investigate the reported TP63-related prenatal cases and provide a more complete picture of the prenatal phenotypic spectrum about EEC. It illustrates the potential severity of genitourinary anomalies in TP63-related disorders and highlights the need to counsel for the possibility of EEC syndrome, given the occurrence of genitourinary anomalies with orofacial cleft or limb deformities.
ABSTRACT
Objective To study the relationship between serum levels of visfatin,MMP-2 and MMP-9 in AMI patients.Methods Seventy-five AMI patients served as an AMI group and 60 age-and gender-matched subjects undergoing physical examination served as a control group in this study.Their serum levels of visfatin,MMP-2 and MMP-9 were measured and other biochemical parameters were recorded by ELISA.The relationship of serum levels of visfatin with those of MMP-2,MMP-9,hs-CRP and biochemical parameters was analyzed by Pearson correlation analysis.Results The serum levels of LDL-C,visfatin,MMP-2 MMP-9 and hs-CRP were significantly higher in AMI group than in control group (3.45±0.87 mmol/L vs 2.89±0.65 mmol/L,8.06±2.21 μg/L vs 5.53±1.23 μg/L,150.18 ± 74.58 μg/L vs 64.60±25.86 μg/L,478.77±165.46 μg/L vs 263.54±99.35 μg/L,12.07±2.50 mg/L vs 4.62±1.82 mg/L,P＜0.01).The serum levels of visfatin were positively related with those of MMP-2,MMP-9 and hs-CRP.Conclusion The serum visfatin level is significantly higher in AMI patients,indicating that the serum visfatin level is closely related with the rupture of atherosclerotic plaques and can thus be used as an important marker of unstable atherosclerotic plaques and the rupture of atherosclerotic plaques.
ABSTRACT
Objective·To identify the relationship between the estimated fetal weight (EFW) discordance and birth weight (BW) discordance, and evaluate the accuracy of ultrasonography in predicting birth weight discordance (△BW) of twin pregnancy. Methods·The ultrasound was used to detect the growth of twins at different gestational weeks and the data were analyzed to compare the difference between EFW discordance (△EFW) and ?BW. Results·About 15.9 percent of twins (totally 277 cases) had severe △BW (△BW ≥20%) in our study, and the percentages of dichorionic-diamniotic twin (DCDA) and monochorionic-diamniotic twin (MCDA) were 68.2% and 31.8%, respectively (P>0.01). Compared with △EFW in other gestational weeks,△EFW last time before parturition was most consistent of △BW. Furthermore, the negative predictive value of MCDA was highest (94%) at 22-24 gestational weeks. Conclusion·Twin △BW was relatively better predicted by △EFW last time before parturition. Twin pregnancy without severe △EFW (△EFW<20%), especially MCDA with △EFW<20% at 22-24 weeks, had low probability of selective intrauterine growth restriction in the future.
