No abstract

Background: Alpha-tectorin is a noncollagenous component of the tectorial membrane which plays an essential role in auditory transduction. In several DFNA12 families mutations in TECTA, the gene encoding alpha-tectorin, were shown to cause hearing impairment (HI) with different phenotypes depending on the location of the mutation. Methods/Results: Here we report a Turkish family displaying autosomal dominant inherited HI. Linkage analysis revealed significant cosegregation (LOD score: 4.6) of the disease to markers on chromosome 11q23.3- q24. This region contains the TECTA gene which was subsequently sequenced. A nucleotide change in exon 13, 4526T>G, was detected leading to a substitution from cysteine to glycine at codon 1509 of the TECTA protein. This cysteine is located in vWFD4 domain, a protein domain which is supposed to be involved in disulfide bonds and protein-protein interactions. Conclusions: It is conspicuous that the phenotype in this family correlates with other families, also displaying mutations involving conserved cysteines. In all three families these mutations result in progressive HI involving high frequencies. In contrast, mutations which are not affecting the vWFD domains seem to provoke mid-frequency sensorineural HI. Furthermore, evaluation of clinical data in our family revealed a gender effect for the severity of hearing impairment. Males were significantly more affected than females. The identification of the third family displaying a missense mutation in the vWFD domain of alpha- tectorin underlines the phenotype-genotype correlation based on different mutations in TECTA.

Nasal obstruction can be due to internal and external valve problems that can be seen before and after rhinoplasty. The main scope of this article is to concentrate on surgical solutions to these problems. To overcome nasal obstruction at the internal valve, spreader grafts, spreader flaps, upper lateral splay graft, butterfly graft, flaring suture, M-plasty, Z-plasty, and suspension sutures have been described. The management of the external valve problems is possible by using lateral crural dissection and repositioning, lateral crural strut grafts, alar battens, lateral crural turn-in flap, alar rim grafts, and various other methods. It is not easy to decide which techniques would work best in every case. After a thorough examination and analysis, the underlying cause of the nasal obstruction can be understood, and one or multiple procedures can be chosen according to each individual problem.

The most significant differences between the control group and the patient group were crooked nose, obtuse NFA, acute NLA, chin underprojection, and increased MFH.

Patients with superficial multifocal or micronodular tumors should undergo reoperation because of high recurrence rates.