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1.
Military Medical Sciences ; (12): 919-927, 2023.
Article in Chinese | WPRIM | ID: wpr-1018859

ABSTRACT

Objective To identify the eye movement characteristics that can distinguish reading interest and comprehensibilityin order to provide reference for prediction of reading interest and comprehensibility based on eye movement.Methods Tobii Glasses 3 was used to collect eye tracking data from 11 participants who read 12 texts on different topics.After reading all the texts,the participants marked each sentence with theirlevels of interest and comprehensibility.Then,Python R and excel software were used to preprocess and analyze the data,and the differences in eye movementamid the four combinations of reading interest(interested or not)and comprehensibility(levels of difficulty)were studiedat overall and individual levels.Results At the overall level,there were statistically significant differences in eye movement between the easy comprehension group and the difficult comprehensiongroup where interest was concerned,but there was little difference between the interested group and the disinterested groupwhen it came to comprehensibility.There were differences in eye movement behavior between individuals,and some of the statistically significant differences in eye movement were consistent across most of the participants.In addition,some of the eye movement characteristicswere oppositeacross different individuals or could not distinguish between the interested and disinterested at the overall level,but could be distinguished within individuals.Conclusion At the overall level,it is relatively easy to determine comprehensibility through eye movement,but it is more difficult to distinguish whether the participant is interested in the sentence or not,especially when the text is easily comprehensible.At the individual level,eye movement behavior varies widely between individuals,and individuals manifest different characteristics in distinguishing reading interest and comprehensibility.

2.
Article in Chinese | WPRIM | ID: wpr-771939

ABSTRACT

OBJECTIVE@#To explore the pathogenesis of two fetuses from one family affected with Joubert syndrome (JS).@*METHODS@#Whole exome sequencing was employed to screen potential mutations in both fetuses. Suspected mutations were verified by Sanger sequencing. Impact of intronic mutations on DNA transcription was validated by cDNA analysis.@*RESULTS@#Two novel TCTN1 mutations, c.342-8A>G and c.1494+1G>A, were identified in exons 2 and 12, respectively.cDNA analysis confirmed the pathogenic nature of both mutations with interference of normal splicing resulting in production of truncated proteins.@*CONCLUSION@#The genetic etiology of the family affected with JS has been identified.Above findings have enriched the mutation spectrum of TCTN1gene and facilitated understanding of the genotype-phenotype correlation of JS.


Subject(s)
Humans , Abnormalities, Multiple , Diagnosis , Genetics , Cerebellum , Congenital Abnormalities , Eye Abnormalities , Diagnosis , Genetics , Kidney Diseases, Cystic , Diagnosis , Genetics , Membrane Proteins , Genetics , Mutation , Pedigree , Retina , Congenital Abnormalities , Exome Sequencing
3.
Military Medical Sciences ; (12): 481-486, 2017.
Article in Chinese | WPRIM | ID: wpr-617253

ABSTRACT

Objective To analyze gene expression profiles of biopsy specimens from breast cancer patients who were treated with neoadjuvant chemotherapy(NAC) after biopsies, and to identify the genes which are closely associated with the efficacy of neoadjuvant chemotherapy with T/FAC [docetaxel(Taxotere), 5-fluorouracil, doxorubicin and cyclophosphamide] or T/FEC (Taxotere, 5-fluorouracil, epirubicin and cyclophosphamide) regimen.Methods We retrieved and collected gene expression profiles from publicly available databases.Four datasets, a total of 844 samples, were finally retained because all the patients had received a uniform neoadjuvant chemotherapy regimen.Response to neoadjuvant chemotherapy was categorized as a pathological complete response (pCR) or residual invasive cancer (RD).The differentially expressed genes (adjusted P-value<0.05) and therapeutic efficacy were analyzed and explored.Results After differential analysis, genes whose expressions were higher or lower in pCR group than in RD group were identified in each of the four datasets, respectively.There were 34 and 42 genes which were simultaneously more highly expressed or more lowly expressed in pCR group than in RD group in the four datasets.The unsupervised clustering, based on the 76 intersection genes, showed that the pCR specimens tended to form one cluster and the RD tended to form the other.Conclusion The seventy-six differentially expressed genes are associated with the efficacy of neoadjuvant chemotherapy and are likely to be novel predictive biomarkers for the efficacy of neoadjuvant chemotherapy.

4.
Military Medical Sciences ; (12): 612-616, 2014.
Article in Chinese | WPRIM | ID: wpr-473987

ABSTRACT

Objective To conduct a pilot study on genome-wide in vivo protein-RNA interactions in E.coli.Methods Bacterial lysate was treated with RNase before the RNA fragments protected by proteins were extracted from treated lysate and used to construct cDNA library that was applied to high-throughput sequencing .Finally, the transcripts bound by proteins were obtained by bioinformatics analysis .Results A total of 3193 transcripts were obtained , including 2234 mRNAs, 47 sRNAs, 39 tRNAs, 11 rRNAs, and 862 intergenic regions .Conclusion Some information of transcripts interacting with proteins in E.coli is acquired , which will facilitate further studies of protein-RNA interactions .

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