Genetic factors, the most common etiology in severe to profound hearing loss, are one of the key determinants of Cochlear Implantation (CI) and Electric Acoustic Stimulation (EAS) outcomes. Satisfactory auditory performance after receiving a CI/EAS in patients with certain deafness gene mutations indicates that genetic testing would be helpful in predicting CI/EAS outcomes and deciding treatment choices. However, because of the extreme genetic heterogeneity of deafness, clinical application of genetic information still entails difficulties. Target exon sequencing using massively parallel DNA sequencing is a new powerful strategy to discover rare causative genes in Mendelian disorders such as deafness. We used massive sequencing of the exons of 58 target candidate genes to analyze 8 (4 early-onset, 4 late-onset) Japanese CI/EAS patients, who did not have mutations in commonly found genes including GJB2, SLC26A4, or mitochondrial 1555A>G or 3243A>G mutations. We successfully identified four rare causative mutations in the MYO15A, TECTA, TMPRSS3, and ACTG1 genes in four patients who showed relatively good auditory performance with CI including EAS, suggesting that genetic testing may be able to predict the performance after implantation.

Vitamin B12 levels in the serum and the cerebrospinal fluid (CSF) were compared between patients with Alzheimer's disease (AD) and senile dementia of Alzheimer's type (SDAT) (AD group) and patients with multi-infarct dementia (MID group). The B12 levels in the serum and the CSF were 742 +/- 359 pg/ml and 28 +/- 7 pg/ml (mean +/- SD), respectively, in the AD group, and 962 +/- 254 pg/ml and 50 +/- 26 pg/ml, respectively, in the MID group. CSF B12 levels were significantly lower in the AD group than in the MID group, whereas the serum levels were not different. At the same time, the serum levels of almost all patients were within the normal range, whereas the CSF levels were 25 pg/ml or lower in 10 of 12 AD patients. Therefore, this low level in the CSF is considered to be a characteristic finding in the AD group.

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We investigated the immune-associated antigens of peripheral lymphocytes from 13 patients with Alzheimer's disease (AD) and 13 age-matched healthy control subjects using two-color analysis with flow cytometry. Four ratios of immune-related antigens, T/B lymphocytes, CD4/CD8, CD4/CD45R and CD4/HLA-DR, were compared for the AD and control groups. The T/B and CD4/CD8 ratios did not differ between the groups, the ratio of CD4+CD45R+ subset in the AD group was lower than the ratio in the control group, and the ratios of CD4+ CD45R- and CD4+HLA-DR+ subsets in the AD group were significantly higher. Further, in the AD group, the CD4+ CD45R+/CD4+ ratio was lower and the CD4+ CD45R- CD4+ ratio was higher than in the control group.

The frequency of pneumonia treatment and that of suctioning decreased considerably after LTS. Furthermore, the respiratory condition improved at a rate of 63.19%. The SMID-MCDG score significantly reduced after LTS. No significant complications were observed and two-thirds of the patients were successfully discharged for home care after the procedure.