Explainable AI-based Deep-SHAP for mapping the multivariate relationships between regional neuroimaging biomarkers and cognition.

Background: Mild cognitive impairment (MCI)/Alzheimer's disease (AD) is associated with cognitive decline beyond normal aging and linked to the alterations of brain volume quantified by magnetic resonance imaging (MRI) and amyloid-beta (Aβ) quantified by positron emission tomography (PET). Yet, the complex relationships between these regional imaging measures and cognition in MCI/AD remain unclear. Explainable artificial intelligence (AI) may uncover such relationships.

[Mutation analysis of 12S rRNA and tRNA-Ser(UCN) genes in a large Chinese family with maternally inherited nonsyndromic hearing loss by intermarriage].

Objective: To identify the possible mutation at possible sites in different mitochondrial genes that leads to hearing loss in a large Chinese pedigree.

Methods: Blood samples from a Hunan pedigree were obtained with informed consent. Genomic DNA was extracted from peripheral blood leukocytes using kit.

[A family with nonsyndromic hearing impairment caused by intermarry].

Deafness is the most prevalent sensory system impairment in human, about 70 % of genetic deafness belongs to nonsyndromic hearing impairment. It was estimated that the total number of genes involved in nonsyndromic hereditary deafness was over 100. So far, approximate 80 loci have been mapped to human chromosome, and 23 genes have been identified.