Aim: We hypothesized that polymorphisms in the region encoding for the second transmembrane spanning domain of the epithelial sodium channel may be one factor in the pathogenesis of transient tachypnoea of the newborn...Aim: We hypothesized that polymorphisms in the region encoding for the second transmembrane spanning domain of the epithelial sodium channel may be one factor in the pathogenesis of transient tachypnoea of the newborn. We thus searched for polymorphisms in this region in neonates with transient tachypnoea of the newborn. We also investigated samples from preterm neonates with respiratory distress syndrome, as dysfunction of the epithelial sodium channel might also increase the risk for developing respiratory distress syndrome and in fluence its course. Methods: We used denaturing gradient gel electrophoresis to detect sequence variants in exon 12 and 13 of the epithelial sodium channel. Forty-three neonates with transient tachypnoea of the newborn (gestational age mean± SD : 38.3± 1.2 completed weeks; birthweight: 3088± 426 g), 57 neonates with RDS (gestational age: 29.6 ± 3.5 completed weeks; birthweight: 1272 ± 638 g), and 50 healthy controls were enrolled prospectively. Results: We did not detect any polymorphism. Neither did confirmative sequencing of this region in 16 neonates with transient tachypnoea of the newborn reveal any polymorphism. Conclusion: We conclude that reasons other than polymorphisms in the second transmembrane spanning domain cause transient tachypnoea of the newborn.展开更多
先天性双侧输精管缺如(congenital bilateral absence of vas deferens,CBAVD)可导致梗阻性无精子症,是男性不育的常见病因之一。CBAVD致病有关的基因种类繁多,其致病机制各有特点,但又有一定的联系;同时鉴于CBAVD在不育症的比例,合适...先天性双侧输精管缺如(congenital bilateral absence of vas deferens,CBAVD)可导致梗阻性无精子症,是男性不育的常见病因之一。CBAVD致病有关的基因种类繁多,其致病机制各有特点,但又有一定的联系;同时鉴于CBAVD在不育症的比例,合适的临床诊治和遗传咨询显得尤为重要。本文就CBAVD的致病机制和临床诊疗进行综述,以期待为中国CBAVD患者的诊治和遗传咨询提供参考。展开更多
文摘Aim: We hypothesized that polymorphisms in the region encoding for the second transmembrane spanning domain of the epithelial sodium channel may be one factor in the pathogenesis of transient tachypnoea of the newborn. We thus searched for polymorphisms in this region in neonates with transient tachypnoea of the newborn. We also investigated samples from preterm neonates with respiratory distress syndrome, as dysfunction of the epithelial sodium channel might also increase the risk for developing respiratory distress syndrome and in fluence its course. Methods: We used denaturing gradient gel electrophoresis to detect sequence variants in exon 12 and 13 of the epithelial sodium channel. Forty-three neonates with transient tachypnoea of the newborn (gestational age mean± SD : 38.3± 1.2 completed weeks; birthweight: 3088± 426 g), 57 neonates with RDS (gestational age: 29.6 ± 3.5 completed weeks; birthweight: 1272 ± 638 g), and 50 healthy controls were enrolled prospectively. Results: We did not detect any polymorphism. Neither did confirmative sequencing of this region in 16 neonates with transient tachypnoea of the newborn reveal any polymorphism. Conclusion: We conclude that reasons other than polymorphisms in the second transmembrane spanning domain cause transient tachypnoea of the newborn.
文摘先天性双侧输精管缺如(congenital bilateral absence of vas deferens,CBAVD)可导致梗阻性无精子症,是男性不育的常见病因之一。CBAVD致病有关的基因种类繁多,其致病机制各有特点,但又有一定的联系;同时鉴于CBAVD在不育症的比例,合适的临床诊治和遗传咨询显得尤为重要。本文就CBAVD的致病机制和临床诊疗进行综述,以期待为中国CBAVD患者的诊治和遗传咨询提供参考。
