KCNQ4: a gene for age-related hearing impairment?

Age-related hearing impairment (ARHI) is the most common sensory impairment among the elderly. It is a complex disorder influenced by genetic as well as environmental factors. SNPs in a candidate susceptibility gene, KCNQ4, were examined in two independent Caucasian populations. Two quantitative trait locus (QTL) values were investigated: Zhigh and Zlow, a measure of high and respectively low frequency hearing loss. In the first population, the statistical analysis of 23 genotyped SNPs spread across KCNQ4 resulted in significant p-values for two SNPs for Zhigh-SNP9 (NT_004511:g.11244177A > T) and SNP15 (NT_004511:g.11257005C > T; NP_004691:p.Ala259Ala), and one SNP for Zlow-SNP12 (NT_004511:g.11249550A > T). The linkage disequilibrium (LD) structure of KCNQ4 was subsequently determined in a 34-kb region surrounding the significant SNPs, resulting in three LD-blocks. LD-block 1 contains SNP9 and covers an area of 5 kb, LD-block 2 measures 5 kb and surrounds SNP13 (NT_004511:g.11253513A > G) to SNP18 (NT_004511:g.11257509G > A; NP_004691:p.Thr293Thr), and LD-block 3 spans 7 kb. Five tag-SNPs of block 1 and 2, and 2 extra SNPs were subsequently genotyped in the second population. Again, several SNPs were positively associated with ARHI: one SNP (SNP18) for the high frequencies and three SNPs (SNP9, SNP12, and SNP18) for the low frequencies, although only a single SNP (SNP12) resulted in significant p-values in both populations. Nevertheless, the associated SNPs of both populations were all located in the same 13-kb region in the middle of the KCNQ4 gene.

Revascularization after cryopreservation and autotransplantation of immature and mature apicoectomized teeth.

Autotransplantation of immature teeth can have a success rate of almost 98% if the tooth is atraumatically transplanted from the donor site to a suitable acceptor site and the extraoral time is kept to a minimum. When the tooth cannot be transplanted immediately, cryopreservation and storage in a tooth bank offer new possibilities for autotransplantation. However, the effect of cryopreservation on the revascularization of transplanted teeth is still unknown. The purpose of this study was to examine revascularization in immature teeth that have an open apex and in mature teeth that have had the apex cut. The study was carried out on 16 teeth in 2 dogs; 8 teeth were removed and immediately transplanted to the contralateral position and 8 teeth were cryopreserved and transplanted 1 week later. The results show that: (1) teeth can revascularize after autotransplantation if the original pulp tissue is removed at the time of extraction, (2) there is no significant difference in the amount of revascularization between teeth stored in a tooth bank for 7 days and those immediately transplanted without freezing, and (3) there is no difference in the ingrowth of new pulpal tissue between mature apicoectomized teeth and immature teeth.

Endoscopic obliteration of recurrent tracheoesophageal fistula.

We report a successful endoscopic obliteration of a large recurrent tracheoesophageal fistula (diameter 0.6 cm, length 2.0 cm) in a 12-year-old girl, using a combination of Histoacryl (n-butyl-z-cyanoacrylate) and Aethoxysclerol injected through a polyethylene catheter. The severe pulmonary infection, which rendered surgery potentially life threatening, disappeared after the endoscopic closure. Since the obliteration, now over 12 months ago, the girl is asymptomatic. Endoscopic obliteration is a worthwhile technique and should be considered as an alternative to surgery in patients presenting with a complicated recurrent tracheoesophageal fistula.