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Audiological features of GJB2 (connexin 26) deafness   总被引:16,自引:0,他引:16  
OBJECTIVE: The aim of the present study was to characterize audiological profiles in patients with GJB2 deafness DESIGN: We screened DNA from 399 individuals with nonsyndromic deafness for mutations in the connexin 26 gene (GJB2) by sequence analysis. A total of 77 (19%) of these deaf individuals were biallelic GJB2 mutations (either homozygous or compound heterozygous mutations) (GJB2 deafness). Using the audiological classification criteria of genetic deafness proposed by the European Workshop on Genetic Hearing Loss, we analyzed audiograms of these patients to characterize audiological features of the GJB2 deafness. In addition, we reviewed audiological data of 411 deafness cases from the literature providing details of audiological data (including 157 with GJB2 deafness). RESULTS: All categories of hearing loss severity were found, with significant differences in the findings from GJB2 cases: 1 (4.5%) of 22 individuals with mild hearing loss, 10 (13.3%) of 75 with moderate loss, 14 (14.9%) of 94 with severe loss, and 52 (25%) of 208 with profound deafness (Chi-square test, 3 df, p = 0.016). 81.6% of patients with GJB2 mutations had severe to profound loss, 18.4% with mild to moderate loss (Chi-square test, p = 0.014). The 235delC mutation was always associated with profound deafness. The main audiogram shapes found were residual/sloping (72.7%) and flat (23.4%). There were no differences in the severity and audiogram shapes of the hearing impairment between homozygous and compound heterozygous GJB2 deafness (Chi-square test, p > 0.05). CONCLUSIONS: Our study shows that the probability of finding biallelic GJB2 mutations increases with the severity of hearing loss. Audiograms associated with GJB2 deafness were usually nonspecific. Patients with unknown causes of severe or profound hearing loss should be routinely tested for GJB2 mutations, but due to the variability in hearing loss, individuals with lesser degrees of hearing loss should not be precluded from testing.  相似文献   
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A few Mannich ketones of piperazinyl oxazolidinone derivatives have been synthesized and their antibacterial activity in various Gram-positive organisms such as Bacillus subtilis, Staphylococcus aureus, Staphylococcus epidermidis and Enterococcus faecalis were evaluated by MIC determination. Compound 12 showed comparable activity (MIC) to linezolid and superior to eperezolid.  相似文献   
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AIM: The aim of this study was to investigate a rapid spectrophotometric assay for its potential to measure tetracycline levels in gingival crevicular fluid (GCF). MATERIALS AND METHODS: The technique involves complexation of tetracycline with molybdenum in order to shift the absorbance spectrum away from that region where interference with plasma proteins is a problem. The sensitivity of the assay and reproducibility of elution were examined together with an assessment of the effect of plasma proteins. The assay was also tested in a small pilot clinical project, measuring tetracycline levels in GCF following placement of a test gel formulation in 25 periodontal pockets in 5 patients. RESULTS: The in vitro results showed good sensitivity of the assay over the concentration range tested (0.5-200 microg tetracycline) and with little effect of plasma proteins. Elution from the paper strips was reproducible with a good linear correlation between direct and filter absorbed assays (r=0.9989, p<0.01). The pilot clinical study indicated a mean half-time of tetracycline in GCF of 28 min with confidence intervals of 21 to 34 min, although wide variation between the drug levels of individual periodontal pockets was seen. CONCLUSIONS: The results indicate good sensitivity for this assay to measure tetracycline hydrochloride in vivo. The potential for rapidly processing large numbers of samples contrasts with the assay time and limited sample throughput of other methods such as high pressure liquid chromatography (HPLC) and suggests that the technique may be a useful addition to current techniques for measuring tetracycline hydrochloride in vivo.  相似文献   
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