Compound Heterozygous Mutations in the F7 Gene in 2 Unrelated Families With Congenital Factor VII Deficiency.

Factor VII (FVII) deficiency is a rare bleeding disorder normally caused by homozygous and compound heterozygous mutations in the F7 gene. Whole-exome sequencing was performed to identify F7 mutations in 3 individuals from 2 unrelated families who were diagnosed with FVII deficiency. Four compound heterozygous mutations were identified and validated in these 3 probands with FVII deficiency. Among the 4 identified mutations, NM_000131.4:c.572-1_581del, NM_000131.4:c.1250A>G (p.Tyr417Cys), and NM_000131.4:c.647G>T (p.Gly216Val) were novel. All 3 novel mutations were predicted to be likely pathogenic by the American College of Medical Genetics and Genomics/Association for Molecular Pathology guidelines.

Elevated levels of lead exposure and impact on the anti-inflammatory ability of oral sialic acids among preschool children in e-waste areas.

The oral health of preschool children in an electronic waste (e-waste) area is susceptible to lead (Pb) exposure increasing the risk of dental caries and causing periodontitis and other oral diseases. The aim of the present study is to investigate the relationship between chronic exposure to Pb and oral anti-inflammatory potential of preschool children. For this analysis, 574 preschool children from 2.5 to 6 years of age were recruited between November and December 2017, in which 357 preschool children were from Guiyu (n = 357), an e-waste-contaminated town, and 217 from Haojiang Shantou. We measured the levels of child blood Pb, salivary sialic acid, serum interleukin-6 (IL-6) and serum tumor necrosis factor-α (TNF-α), and investigated the prevalence of dental caries in deciduous teeth. The medians of blood Pb levels, serum IL-6 and TNF-α were significantly higher in the Guiyu children than in Haojiang children. Concomitantly, salivary sialic acids were lower in the Guiyu children [9.58 (3.97, 18.42) mg/dL] than in Haojiang [17.57 (5.95, 24.23) mg/dL]. Additionally, the prevalence of dental caries in deciduous teeth was significantly higher in the Guiyu children than in Haojiang (62.5% vs. 53.9%). Blood Pb levels were negatively correlated with salivary sialic acids, in which IL-6 played as a mediator of the association between blood Pb levels and saliva sialic acid concentrations according to the mediation model. To our knowledge, this is the first report on the potential association between chronic Pb exposure and the anti-inflammatory ability of oral sialic acids among preschool children. These results suggest that the chronic Pb exposure can reduce salivary sialic acid levels, attenuate oral anti-inflammatory potential and increase the potential risk of dental caries in deciduous teeth among preschool children in an e-waste site.