ABSTRACT
Objective@#To explore the association between watching TV and watching computer and visual acuity among children and adolescents, and to provide reference for Chinese students to choose electronic products in life and study.@*Methods@#Subjects were from 2014 Chinese National Surveys on Students’ Constitution and Health(CNSSCH). In this survey, 213 857 Han students participated. The visual acuity results of 5 m visual acuity chart examination were recorded, and the time of completion of homework and the time of different video behaviors were investigated.@*Results@#The incidence of reduced vision acuity among Chinese students increases with the time spent on homework and computer(χ2=3 748.99, 949.39, P<0.01).And it decreased as time spent at the computer increased(χ2=2 725.08, P<0.01). It was found that the incidence of poor vision of students who watched TV for a long time was lower(61.81%), followed by those who watched TV and watched computer for the same time(70.62%), and those who watched computer for a long time(79.03%). The results were statistically significant(χ2=4 862.43, P<0.01). The results of multivariate Logistic regression analysis showed that compared with the students who watched TV for a long time, the students who watched TV for the same time and watched computer for a long time were more likely to have poor vision(OR=1.17, 1.21, P<0.01).@*Conclusion@#When using electronic products, the preference of watching large electronic screens is conducive to reducing the impact of video behavior on students' eyesight.
ABSTRACT
Objective: To study the mutation of ENG, ACVRL1, and SMAD4 genes in one of a family of hereditary hemorrhagic telangiectasia (HHT) and explore its molecular pathogenesis. Methods: A family spectrum of a patient with a clinical diagnosis of HHT was surveyed. Peripheral blood samples from proband and their eldest were collected, and ENG, ACVRL1 and SMAD4 gene analysis was performed by chip capture high-throughput sequencing. The mutation detected was verified by Sanger. Results: 9 of the 71 family members were diagnosed with HHT with the main manifestation of recurrent nasal bleeding. Genetic analysis showed that the proband and the eldest son of ENG gene exon 9 frameshift mutation: c.1502-1503insGG (p.Gly501GlyfsX18) , and mutations in ACVRL1 and SMAD4 genes were not detected. Conclusion: The frameshift mutation c.1502-1503insGG (p.Gly501GlyfsX18) of the ENG gene is the genetic basis for the pathogenesis of this HHT family.
Subject(s)
Humans , Endoglin , Exons , Genetic Testing , Mutation , Telangiectasia, Hereditary HemorrhagicABSTRACT
<p><b>BACKGROUND</b>Although great advances in techniques for noninvasive prenatal diagnosis using fetal cells from maternal peripheral blood have achieved, current technology does not meet the demands required for clinical use. In this study, we aimed to establish reliable methods for the gene analysis of fetal cells from maternal peripheral blood.</p><p><b>METHODS</b>Primed extension preamplification (PEP)-polymerase chain reaction (PCR), multiple primed in situ labeling (PRINS), and nested PCR were individually applied to detect the sex determining region Y (SRY) gene in single fetal cells collected from maternal peripheral blood.</p><p><b>RESULTS</b>The sensitivity and specificity of the detection of the SRY gene by PEP-PCR were 97.39% (149/153) and 99.17% (119/120), respectively. The sensitivity and specificity of PRINS were 97.56% (40/41) and 100% (35/35), respectively. The sensitivity and specificity of nested-PCR were 80.00% (24/30) and 87.50% (14/16), respectively.</p><p><b>CONCLUSIONS</b>PEP-PCR and PRINS are reliable techniques for the gene analysis of single fetal cells from maternal peripheral blood because of their high sensitivity and specificity. PEP-PCR and PRINS can be used as standard methods of noninvasive prenatal diagnosis using single fetal cells from maternal peripheral blood.</p>