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Acromicric dysplasia(AD) is a rare skeletal dysplasia characterized by severe short stature, short hands and feet, normal intelligence, mild facial dysmorphism, and radiological characteristics. The clinical data and genetic test results of one patient with AD in our hospital were analyzed, and the clinical characteristics of this case were summarized. The main manifestations of the child were short stature, short hands and feet, mild facial dysmorphism, short and stubby metacarpals and phalanges on hand X-ray. One mutation, FBN1: c.5141T>G(p.Met1714Arg), was identified in this child, the mutation is inherited from her short mother and grandfather. AD is a rare congenital skeletal dysplasia disorder associated with mutations in the FBN1 gene. It conforms to the pathogenesis of autosomal dominant genetic disease.
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An adverse intrauterine environment due to preeclampsia can not only lead to premature birth,low birth weight and fetal intrauterine distress,but also have long-term impacts on the fetus,such as increasing their susceptibility to metabolic,cardiovascular and neurological disorders.It also increases the risk of preeclampsia in female offspring.Researches focusing on the long-term effects of preeclampsia on the future generation is helpful to understand the pathophysiological mechanism of preeclampsia and to provide timely interventions in early life to reduce the occurrence of chronic diseases in later life.
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Objectives To assess the relationship between amniotic fluid erythropoietin(EPO)and neona-tal adverse outcome in fetal growth restriction(FGR)pregnancy labored during 28-36 gestational weeks.To explore the clinical application in timing of delivery. Methods The retrospective research had recruited 87 patients with single pregnancy complicated FGR,of which the gestational weeks range from 28 weeks to 36 weeks. All subjects were collected from amniotic fluid at cesarean section or within a week of cesarean section. Amniotic fluid EPO were detected according to the classical definition. We categorized EPO < 27 IU/L as an normal state,whereasE-PO≥27 IU/L as an abnormal state.The relationship between amniotic fluid EPO with biophysical profile,the flow velocity waveform/blood gas parameters of the umbilical artery,and the neonatal adverse outcome were observed. Results For FGR pregnant women who chose 28-36 weeks for delivery,the incidence of neonatal adverse out-comes was significantly higher in the amniotic fluid EPO increased group than that in normal concentration group (χ2= 9.49,P = 0.002). Pearson analysis showed that amniotic fluid EPO concentration was negatively correlated with umbilical artery pH(P<0.001,r=-0.908)and base excess(P<0.001,r=-0.624).However,it was pos-itively correlated with PCO2(P<0.001,r=0.631),whereas there was no significant correlation between amniotic fluid EPO concentration and PO2(P=0.068,r=-0.197).In addition,neither biophysical profile nor flow velocity waveform has difference in amniotic fluid EPO concentration. Conclusions The abnormal increased amniotic fluid EPO in FGR pregnant women who delivered before 36 gestational weeks were closely related to the adverse out-come of the newborn.The amniotic fluid EPO is expected to be an additional indicator of fetal hypoxia,which can help determine the time of birth.
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Objective To discuss the Clinical significance of blood glucose monitoring in neonate HIE.Methods To monitor glucose concentration in 48 cases of HIE patient and 50 case of normal newborns, and adapt the speed of sugar transport and concentration. Results The neonate HIE was more often have disorder of glucose metabolism than normal newborn, both hyperglycemia and glycopenia could be found in neonate HIE, hyperglycemia could be related with the degree of disease. Conclusion Glucose monitoring in neonate HIE was necessary.
