Tone perception of Cantonese-speaking prelingually hearing-impaired children with cochlear implants

Objective To evaluate tone perception performance in Cantonese-speaking prelingually hearing-impaired children with cochlear implants. Study design and setting The ability to discriminate and identify Cantonese tones was evaluated on 17 native Cantonese-speaking prelingually hearing-impaired children. Performance was correlated to factors like age of implantation and general communication ability. Results Subjects' performance in discrimination and identification tasks was slightly above chance level. Although variations in the contour fundamental frequency of the tones provided some cues for tone discrimination, these distinctions proved insufficient for subjects to perform well. Tone 6 (low level tone) was the most difficult to identify. Subjects' performance did not correlate with gender, age of implantation, duration of implant use, frequency of auditory training session, or general communication ability. Conclusion Although some children were able to discriminate and/or identify Cantonese tones, their performance was poor. Further studies are needed to understand how tone perception relate to daily speech understanding. Significance Cochlear implant speech coding strategies may need modification to optimize tone perception.postprin

Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation

GWAS have identified a breast cancer susceptibility locus on 2q35. Here we report the fine mapping of this locus using data from 101,943 subjects from 50 case-control studies. We genotype 276 SNPs using the ‘iCOGS’ genotyping array and impute genotypes for a further 1,284 using 1000 Genomes Project data. All but two, strongly correlated SNPs (rs4442975 G/T and rs6721996 G/A) are excluded as candidate causal variants at odds against >100:1. The best functional candidate, rs4442975, is associated with oestrogen receptor positive (ER+) disease with an odds ratio (OR) in Europeans of 0.85 (95% confidence interval=0.84−0.87; P=1.7 × 10^−43) per t-allele. This SNP flanks a transcriptional enhancer that physically interacts with the promoter of IGFBP5 (encoding insulin-like growth factor-binding protein 5) and displays allele-specific gene expression, FOXA1 binding and chromatin looping. Evidence suggests that the g-allele confers increased breast cancer susceptibility through relative downregulation of IGFBP5, a gene with known roles in breast cell biology