OBJECTIVE: To explore the genetic basis of a fetus with enlargement and enhanced echo of the kidneys. METHODS: The imaging data of the fetus were collected, in addition with 20 mL amniotic fluid sample and 2 mL peripheral blood samples of both parents. Amniotic DNA was extracted for library construction and whole exome sequencing, and Sanger sequencing was carried out to verify candidate variant associated with the fetal phenotype. RESULTS: Prenatal ultrasound showed that the fetus had enlargement and enhanced echo of the kidneys, in addition with many small renal cysts. Whole exome sequencing showed that the fetus carried pathogenic compound heterozygous variants of the ETFDH gene, namely c.3G>C and c.1436dupA. Sanger sequencing of the family suggested that the variants were inherited from its mother and father, respectively. CONCLUSION By combining its clinical manifestations and results of whole exome sequencing, the fetus was diagnosed as glutaric acidemia type ⅡC due to the compound heterozygous variants of the ETFDH gene. Above results have provided a basis for prenatal diagnosis and genetic counseling. Fetal exome sequencing has provided an important tool for prenatal diagnosis.

Objective To explore the effect and mechanism of uric acid(UA)in regulating the larval growth and development of Drosophila melanogaster.Methods A total of 1350 newly hatched first-instar larvae of wild-type Drosophila melanogaster(W11 18)were collected,and the Drosophila melanogaster model of hyperurice-mia was constructed with a high purine diet.The larvae were assigned into three groups(n=150):control(stand-ard corn meal medium),low-dose adenine(corn meal medium containing 0.05％adenine),and high-dose ad-enine(corn meal medium containing 0.10％adenine),and two parallel groups were set up.The growth and de-velopment of larvae in each group was observed,and the UA and hormone levels were measured.In addition,the expression levels of genes involved in growth and development were determined.Results Compared with the con-trol group,the low-and high-dose adenine groups showed elevated UA levels(both P＜0.001)and prolonged de-velopmental period(P=0.024,P＜0.001).The high-dose adenine group showed decreased survival rate,pupa-tion rate,and eclosion rate and elevated levels of juvenile hormone(JH)and 20-hydroxyecdysone(20E)(all P＜0.001).The PCR results showed that compared with the control group,high-dose adenine upregulated the mRNA levels of reactive oxygen species(ROS),forkhead box O(FOXO),and mammalian target of rapamycin(mTOR)while downregulating the mRNA levels of Sestrin,mTOR complex 1(mTORC1),and AMP-activated protein kinase(all P＜0.001).Conclusion High concentrations of UA may promote the expression of ROS/FOXO/mTORC1/mTOR signaling pathway by regulating the levels of JH and 20E,thereby inhibiting the larval growth and development of Drosophila melanogaster.

Objective: To evaluate the effects of lipopolysaccharides (LPS) extracted from Porphyromonas endodontalis (Pe) on the expression of matrix metalloproteinase-9 (MMP-9) mRNA and protein as well as enzyme activity in MC3T3-E1 cells and the role of nuclear factor-κB (NF-κB) in the process, so as to investigate the expression of MMP-9 dependent signaling pathways in mouse osteoblasts induced by Pe LPS. Methods: The experiment was conducted in 3 sessions: MC3T3-E1 cells were treated with various concentrations of Pe LPS (0-20 mg/L) and 10 mg/L Pe LPS for different time intervals (0-48 h). The expression of MMP-9 mRNA and protein were detected by real-time reverse transcription-PCR (RT-PCR) and enzyme-linked immunosorbent assay (ELISA), while the enzyme activity was detected by gelatin zymography method. The expression of MMP-9 mRNA was also detected in 10 mg/L Pe LPS treated MC3T3-El cells after pretreated with specific NF-κB inhibitor BAY 11-7082 for l h. Statistical analysis was performed using one-way ANOVA and Dunnett t test with SPSS 13.0 software package. Results: The levels of MMP-9 mRNA and protein increased significantly after the treatment with various concentrations of Pe LPS (0-20 mg/L), which indicated that Pe LPS induced osteoblasts to express MMP-9 in dose dependent manners. The expression of MMP-9 protein increased from (5 395±362) ng/L (blank control group) to (12 684±375) ng/L (20 mg/L group). Maximal induction of MMP-9 mRNA expression was found in the MC3T3-E1 cells treated with 10 mg/L Pe LPS for 24 h. The expression of MMP-9 mRNA in the 20 mg/L group was about 7 times than that in the blank control group. After 24 h, the expression of MMP-9 mRNA decreased. Maximal expression of MMP-9 protein was found in the MC3T3-E1 cells treated with 10 mg/L Pe LPS for 48 h ([35 055±2 346] ng/L) showing the highest enzyme activity. The mRNA of MMP-9 decreased significantly after pretreatment with 10 µmol/L BAY 11-7082 for 1 h. Conclusions Pe LPS might induce the expression of MMP-9 in MC3T3-E1 cells through the signaling of NF-κB.