Analysing the Cognitive load for Monolinguals using EEG
2020 6TH INTERNATIONAL CONFERENCE ON ADVANCED COMPUTING AND COMMUNICATION SYSTEMS (ICACCS)
Authors: Sukeerthi, Sakthivel; Veezhinathan, Mahesh; Geethanjali, B.
Abstract
The effective transfer of information to the brain is possible only when the redundant load is not forced on a learner and this will help in the successful encoding of information. Assessing the cognitive load becomes a crucial imperative for the learner as the profound cognitive load can have negative effects on task achievement affecting the information transfer. Analyzing the cognitive load in learning environments during task switching becomes a primary concern. In the present study, the cognitive load associated with different tasks (650 L and 1500 L) have assessed using Electroencephalograph (EEG) for 10 monolingual participants and the task performances had tested The event-related synchronization and desynchronization had calculated for all EEG across nineteen electrode locations. As the cognitive load increases, at T3, T4, F8 and Fp1 electrode locations the alpha desynchronization and Theta synchronization were much different (P <0.05) and this helps improve accuracy for high lexical level. The task performance, accuracy was the same for high and low cognitive loads, but mean RT (reaction time) was diverse only for related words. The study concludes monolingual performed fine on the linguistics task, it should have been compared to bilinguals and non-linguistics task for further decisive results.
Molecular analysis of 76 Chinese hemophilia B pedigrees and the identification of 10 novel mutations
MOLECULAR GENETICS & GENOMIC MEDICINE
Authors: Huang, Limin; Li, Liyan; Lin, Sheng; Chen, Juanjuan; Li, Kun; Fan, Dongmei; Jin, Wangjie; Li, Yihong; Yang, Xu; Xiong, Yufeng; Li, Fenxia; Yang, Xuexi; Li, Ming; Li, Qiang
Abstract
Background Hemophilia B (HB) is an X-linked recessive inherited bleeding disorder caused by mutations in theF9gene that lead to plasma factor IX deficiency. To identify the causative mutations in HB, a molecular analysis of HB pedigrees in China was performed. Methods Using next-generation sequencing (NGS) and an in-house bioinformatics pipeline, 76 unrelated HB pedigrees were analyzed. The mutations identified were validated by comparison with the results of Sanger sequencing or Multiplex Ligation-dependent Probe Amplification assays. The pathogenicity of the causative mutations was classified following the American College of Medical Genetics and Genomics guidelines. Results The mutation detection rate was 94.74% (72/76) using NGS. Of the 76 HB pedigrees analyzed, 59 causative variants were found in 72 pedigrees, with 38 (64.41%) missense mutations, 9 (15.25%) nonsense mutations, 2 (3.39%) splicing mutations, 5 (8.47%) small deletions, 4 (6.78%) large deletions, and 1 intronic mutation (1.69%). Of the 59 differentF9mutations, 10 were novel: c.190T>G, c.199G>T, c.290G>C, c.322T>A, c.350_351insACAATAATTCCTA, c.391+5delG, c.416G>T, c.618_627delAGCTGAAACC, c.863delA, and c.1024_1027delACGA. Of these 10 novel mutations, a mosaic mutation, c.199G>T(p.Glu67Ter), was identified in a sporadic HB pedigree. Usingin-silicoanalysis, these novel variants were predicted to be disease-causing. However, no potentially causative mutations were found in theF9coding sequences of the four remaining HB pedigrees. In addition, two HB pedigrees carrying additionalF8/F9mutations were discovered. Conclusion The identification of these mutations enriches the spectrum ofF9mutations and provides further insights into the pathogenesis of HB in the Chinese population.