ABSTRACT
Abstract Objectives: To screen the COL1A1 and COL1A2 gene mutation sites in a family with type I osteogenesis imperfecta (OI)/hearing loss and analyze the characteristics and recovery of hearing loss in patients with osteogenesis imperfecta. Methods: The basic clinical data of Ol proband and her parents were collected, and the COL1A1 and COL1A2 genes were detected in peripheral blood by PCR amplification and generation Sanger sequencing. Literature of stapedial surgery in patients with osteogenesis imperfecta was collected. Results: The heterozygous mutation of the 26 exon c.1922_1923 ins C in the Ol progenitor COL1A1 gene led to the amino acid frameshift mutation of p.Pro 601FS, which was not detected in the phenotypic parents. The homozygous of exon 28 c.1782>G in COL1A2 was detected in the proband and her parents, resulting in changes in the protein p.Pro 549Ala. Conclusion: The clinical symptoms of the Ol proband is caused by heterozygous mutation of the 26 exon c.1922_1923 ins C in COL1A1 gene. Stapedial surgery can provide short-term and long-term hearing benefits for Ol patients with hearing loss. Level of evidence: Level 4.
ABSTRACT
The researches on chlamydia in recent years show that chlamydia bacteriophage may be a potential and effective means to solve the clinical infection of chlamydia trachomatis (Ct).We investigated the biological effect of chlamydiaphage phiCPG1 capsid protein Vp1 on Ct both in McCoy cells and genital tract of mice.Different concentrations of Vp1 were co-incubated with Ct E serotype strain in McCoy cells.Female BALB/c mice were used to establish Ct E strain-induced urogenital infection model.They were randomly divided into five groups and given different treatments on the fifth day after Ct inoculation.Animals in groups 1 and 2 were given 30 μL different concentrations of Vp1 in the genital tract respectively,those in group 3 were intramuscularly injected with 30 μL Vp1,those in the infected group did not receive any intervention,and those in the control group received 30 μL PBS in the genital tract.The vaginal discharge was collected to identify the live chlamydia by cell culture and gene fragment by real time PCR different days after infection.Inhibition rate of 100 μg/mL and 50 μg/mL Vpl proteins against Ct E strain in the McCoy cell cultures was 91％ and 79％ respectively,The number of intracellular Ct inclusion in the McCoy cells co-cultured with vaginal discharge of group 1 and group 2 was less than in the infected group,and that in group 1 was less than in group 2,on the 7th day after Ct inoculation.Real-time PCR showed that chlamydia concentration of the vaginal discharge in group 2 was lower than in the infected group,and that in group 1 was lower than in group 2 on the 10th day.It was suggested that Vp1 capsid proteins had inhibitory effect on the proliferation of Ct serovar E strain in cell culture and mouse genital tract.