Gene variant analysis of a fetus with autosomal recessive polycystic kidney disease / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for a fetus with autosomal recessive polycystic kidney disease (ARPKD).@*METHODS@#Fetal tissue and peripheral blood samples were respectively obtained from the abortus and the couple. Following extraction of genomic DNA, genetic testing was carried out.@*RESULTS@#The fetus was found to carry compound heterozygous variants of the PKHD1 gene, namely c.5336A>T (p.N1779I) and c.9455delA (p.N3152Tfs*10), which were respectively inherited from the husband and wife.@*CONCLUSION@#The c.5336A>T and c.9455delA variants of the PKHD1 gene probably account for the ARPKD in the fetus. Above results have enabled genetic counseling and prenatal diagnosis for the couple.

Effects of dexamethasone on the change of PLA_2 activity in endotoxin-induced lung injury / 中国病理生理杂志

Sheep with chronic lung lymph fistula were used as model, lung injurywas induced with endotoxin, changes of pulmonary phospholipase A_2(PLA_2) activity wasmeasured and the effect of dexamethasone on PLA_2 activity was also observed. The resultsshowed that after endotoxin infusion PLA_2 activity, thromboxane B_2 (TXB_2) and 6-Keto- prostaglandin F_1? (6-Keto-PGF_1?) increased markedly (P