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 production of Camellia oleifera (oil tea), typically planted in acidic red soils in southern China, is limited by low soil fertility. Agro-farming is one way to promote soil fertility by increasing organic matter and microbial communities. To understand the impact of agro-farming activity on soil fertility, three types of agro-farming, namely, raising laying hens under forest (RLH), cultivating Lolium perenne grass under forest (LPG), and maintenance of native grass (MNG), were employed in an oil tea farm with acidic red soil in Changsha, China. Soil samples were collected from the farm to estimate microbial communities, pH, and total organic carbon (TOC) in different seasons. The results indicated that TOC and temperature were the dominant factors influencing the variations of bacterial communities, while temperature and pH affected the fungal communities in the soil. The most abundant bacterial phyla were Acidobacteria, Proteobacteria, Actinobacteria, and Chloroflexi , while the most abundant fungal phyla were Ascomycota, Basidiomycota, and Zygomycota . Regardless of treatment, the bacterial richness and diversity were both low in spring, and the fungal richness and diversity in summer and autumn were higher than in spring and winter. The TOC content and pH in LPG were significantly higher than in other treatments. Microbial communities in LPG and MNG were more stable than in RLH. In summary, cultivating grass under forest treatment was the best way to improve the microenvironment with the highest TOC content and fewer pathogenic microorganisms.

ABSTRACT Objective: Studies have indicated that AMPK play critical roles in the regulation of innate immunity and inflammatory responses. However, the role of the polymorphisms of PRKAA1 gene in immune-response to infectious organisms remains unknown. To evaluate the potential role of PRKAA1/AMPKα1 in the immune-response to HBV, we conducted this case-control study. Methods: We recruited 276 patients (145 men and 131 women; average age, 51.6 years) with chronic HBV infection (CHB) and 303 healthy controls (166 men and 137 women; average age, 54.2 years). All the subjects were unrelated individuals of Chinese Han Population. Three SNPs of PRKAA1gene were tested. Results: Rs1002424 polymorphism showed significant difference in the allele frequencies, but no difference in the genotype frequencies (allele: p = 0.039411, OR95%CI = 0.783479 [0.621067-0.988362]; genotype: p = 0.104758); rs13361707 polymorphism showed significance in allele analysis, but not in genotype analysis (allele: p = 0.034749, OR95%CI = 1.284303 [1.017958-1.620335]; genotype: p = 0.098027); rs3792822 polymorphism was demonstrated to have significant differences in both genotype and allele frequencies between cases and controls (allele: p = 0.029286, OR95%CI= 0.741519 [0.566439-0.970716]; genotype: p = 0.034560). The haplotype results showed that CTG and TCA in the rs13361707-rs1002424-rs3792822 block were significantly associated with the happening of HBV (CTG: p = 0.036854, OR95%CI = 1.281 [1.015-1.617]; p = 0.030841, OR95%CI = 0.743 [0.568-0.973]). Conclusion: These findings suggest that PRKAA1 polymorphisms may contribute to the susceptibility of chronic HBV infection in Chinese Han origin.