BACKGROUND:The brain mechanism of semantic processing is one of the focus problems in cognitive neuroscience.With the research technologies plentiful and diversified, the brain mechanism of semantic processing is gradually distinct.However, at present, the related researches on Chinese semantic processing are not enough. The brain mechanism of semantic processing by Chinese language obstacle should be studied more deeply.OBJECTIVE: To further identify the neuropsychological significance of clinical diagnosis, treatment and rehabilitation by concluding the study fruits on the brain mechanism of semantic processing by native Chinese speaker with dysphonia and analyze the relationship between the related brain mechanism and the local brain system of semantic processes as well as brain anatomical parts.RETRIEVE STRATEGY: The retrieve staffs are the research personnel for this paper. The range of retrieve time focuses since 1984. A computer-based online search was conducted in CNKI for literatures related to basic neuropsychology and its clinical application published between January 1994 and May 2006, in Elsevier for articles between January 1984 and May 2006, in Academic Source Premier and MEDLINE of EBSCOhost for studies between January 1984 and May 2006 with the key words of "semantic processing", and the language was limited to English. Meanwhile, relevant data were searched manually. The number of total retrieved articles was 264, among which 43 enrolled studies were in accordance with the inclusion criteria and excluded articles involving semantic processing or encephalic region but without their relationship. The unpublished articles were only used for references LITERATURE EVALUATION: The literatures are selected from related works, collected analyses, reports from single case or research. Evaluated persons are related research staffs.DATA SYNTHESIS: Processing of Chinese semantic relied primarily on the left superior temporal region, middle temporal gyrus, the inferior gyrus of frontal regions as well as the left middle frontal gyrus, which make up a frontal-temporal network for semantic processing. Lexical-semantic processing is strongly correlated with activation in the posterior portion of left superior temporal region and the middle temporal gyrus, which appear to be responsible for storage and automatic of semantic processing. The anterior temporal region is related to integrate different semantic knowledge. More strategic processes and those that require specific memory resources may be represented in the inferior frontal cortex. In addition, the left middle frontal gyrus is special to Chinese semantic process, and some scholars infer the reason is the unique style of Chinese characters.CONCLUSION: At present, there are many methods to study neuropsychology, brain tissues and its functions, with which a great deal of neuropsychological disorder and mechanism of pathological changes in clinic can be studied and comprehended more distinctly, and all these are greatly helpful to the treatment and rehabilitation.

Objective:To explore the pathogenic variants of a family with syndromic deafness by high-throughput sequencing.Methods:The family was from Puyang City, Henan Province, and had four members, including two with syndromic deafness. The proband and his sister had congenital deafness, and their parents had normal phenotypes. The clinical phenotype of the family was characterized using clinical examinations and pedigree analysis. The clinical examinations included imaging examination, audiometry (pure tone audiometry, acoustic immittance, brainstem auditory evoked potential, and otoacoustic emission), vestibular function test, and ophthalmic examination (visual acuity test, visual field test, fundus examination, visual evoked potential, and electroretinogram). Target exome sequencing of 129 known deafness genes and bioinformatics analysis were used to screen suspected pathogenic variants. Sanger sequencing and minigene assay were used to verify and functionally investigate the mutation detected, respectively. According to the standards and guidelines for interpreting genetic variants proposed by the American College of Medical Genetics and Genomics, the variants c.6049G>A and c.8699A>G were classified as pathogenic/likely pathogenic, and the variant c.9856C>G was classified as variants of uncertain significance.Results:The probands and his sister had severe sensorineural hearing loss with decreased binocular vision, night blindness, decreased peripheral visual field sensitivity and partial visual field defect, and normal vestibular function. Both of them had three CDH23 mutations, including CDH23 (NM_022124.5) c.6049G>A (p.Gly2017Ser),c.9856C>G (p.His3286Asp), and c.8699A>G (p. Asp2900Gly), The first two were inherited from the father, and the last one was from the mother. The missense variants c.9856C>G and c.8699A>G were not included in the gnomad database. The missense mutation c.6049G>A was located in the last position of exon 46 and was predicted to affect splicing by bioinformatics software. The minigene experiment showed that the mutation cause exon skipping of exon 46, resulting in an abnormal protein. Conclusions:Compound heterozygous variations of the CDH23 are the leading cause of USH1D in the family. This study confirms that the compound heterozygosity of splicing and missense variants of the CDH23 gene could lead to USH1D.