Identification and Clinical Analysis of the First Nonsense Mutation in the PSEN1 Gene in a Family With Acute Encephalopathy and Retinitis Pigmentosa.

In the present study, we investigated the genetic variation in a family with acute encephalopathy and retinitis pigmentosa. Nine of 25 people in this family underwent genetic testing. Three family members, namely, the proband and the proband's two sisters, showed symptoms resembling those of meningoencephalitis and simultaneously suffered from retinitis pigmentosa. Whole-exome sequencing and Sanger sequencing identified a heterozygous mutation, chr14: 73673106 c.881G>A (p.W294*), in the presenilin 1 (PSEN1) gene in these three family members, and the SWISS-MODEL server predicted the formation of a truncated protein. This mutation was not found in the asymptomatic family members. This mutation is a newly discovered nonsense mutation that results in a truncated protein. Although the current genetic evidences may indicate the likelihood of association, further investigations are needed to establish the genotype and phenotype relationship.

The first report: An analysis of bacterial flora of the first voided urine specimens of patients with male urethritis using the 16S ribosomal RNA gene-based clone library method.

OBJECTIVES: To analyse the bacterial flora of urine from patients with male urethritis using the clone library method. METHODS: Urine specimens from patients with urethritis were used. The bacterial flora was analysed according to the 16S ribosomal RNA gene-based clone library method. In addition, Neisseria gonorrhoeae, Chlamydia trachomatis, Mycoplasma genitalium, Mycoplasma hominis, Ureaplasma urealyticum or Ureaplasma parvum were detected by the conventional PCR methods (TMA or real-time PCR) and data from the clone library and conventional PCR methods were compared. RESULTS: Among 58 urine specimens, 38 were successfully analysed using the clone library method. From the specimens, 2427 clones were evaluated and 95 bacterial phylotypes were detected. N. gonorrhoeae was detected from 6 specimens and as the predominant bacterial species in 5 specimens. M. genitalium was detected from 5 specimens and as the predominant bacterial species in 3 specimens. C. trachomatis was detected from 15 specimens using the TMA method, but was detected from only 1 specimen using the clone library method. U. parvum was detected from only 2 specimens using the clone library method. In addition, Haemophilus influenzae and Neisseria meningitidis were also detected in 8 and 1 specimens, respectively. Gardnerella vaginalis, which is a potential pathogen for bacterial vaginitis in women, was detected in 10 specimens. CONCLUSIONS: The clone library method can detect the occupancy rate of each bacteria species among the bacterial flora and may be a new method for bacterial analyses in male urethritis.

[Study of the bacterial reduction effects of dry hand rubbing without disinfectant].

Handwashing is the most basic method of preventing infection. Hand rubbing with an alcohol-based handrub, is the most efficient and popular method. We found in several case studies that 3 minutes of dry hand rubbing without any disinfectant decreases the number of hand bacteria. In this study of 54 samples taken from 47 test subjects, we tried to determine how effectively this method decreases hand bacterial numbers. Except for 12 samples that were indeterminate, the number of hand bacteria in 36 (85.7%) out of 42 samples decreased. The average rate of decrease was 49.4% and the maximum rate was 98.3%. Although the most effective duration of dry hand rubbing varied among individuals, we estimated that 2 minutes is optimal. As dry hand rubbing without disinfectants decreases hand bacteria, we suggest that it can be an effective alternate method in emergency situations when water, soap or disinfectants are unavailable.