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The mapping of autosomal-recessive nonsyndromic hearing impairment segregated in a large consanguineous family of Turkish origin to chromosome 14q24.3-q34.12 is described. It is indicated that ESRRB is essential for inner-ear development and function.

Discusses the practical function of endoscopic sinus surgery. Pathophysiological description of chronic sinusitis; Methods and materials used in performing endoscopic sinus surgery; Suggestions of the authors on how to minimize intraoperative and postoperative complications in endoscopic sinus surgery; Major role played by the ostiomeatal complex area in the pathophysiology of chronic/recurrent sinusitis.

Pulsatile tinnitus of venous origin is a relatively rare diagnosis. When it originates from turbulent flow within the transversesigmoid- jugular system, the surgeons are often tend to block tinnitus creating venous flow. In the presence of a contralateral underdeveloped venous system surgery, internal jugular vein ligation may lead to fatal consequences. We report a 30-year-old female patient with venous pulsatile tinnitus and contralateral hypoplastic venous system of the brain. In the planning of any surgical method having a major interference with the venous blood flow of the brain, the surgeon should make necessary measures to insure an adequate contralateral venous system. [ABSTRACT FROM AUTHOR]

A retrospective chart review to assess the effectiveness of hyperbaric oxygen treatment in sudden sensorineural hearing loss. 44 patients aged between 17-67 years diagnosed with idiopathic sensorineural hearing loss less than 30 days were admitted to our clinic Patients were treated with systemic steroid alone or systemic steroid plus hyperbaric oxygen therapy. In the comparison of two groups, there was no statistically significant difference of audiometric evaluation (P>0.0028) found in hearing improvement for each frequency on 5th day of the treatment and post treatment. Age (≤45 and >45) and initial hearing level (≤60 dB. And >60 dB.) does not seem to be an influential factor according to the results of the study (P>0.0007). The present study did not show more superior healing effect of hyperbaric oxygen therapy added to systemic steroid therapy than steroid infusion alone. The results are consistent with those of some papers. However there are also conflicting data that support significant effect of hyperbaric oxygen therapy. Routine administration of this therapy seems to be unnecessary in view of these results.

Fungus balls or mycetomas are extramucosal and noninvasive accumulations of degenerating fungal hyphae. In head and neck they may localized most frequently in the paranasal sinuses, especially in the maxillary sinus. These indolent infections are mostly caused by Aspergillus spp. In this article, we present two rare fungus ball cases: one occurring in an automastoidectomy cavity of a temporal bone and the other in a concha bullosa. Typically, both patients admitted with vague symptoms consistent with chronic infection resistant to conventional antibacterial medication.

Objective: To evaluate the surgical outcome in patients diagnosed as having rhinogenic contact point headaches (RCPH)., Subjects and Methods: Thirty-six patients (aged 17-58 years) with RCPH underwent mini functional endoscopic sinus surgery procedures. Patients' pain complaints were evaluated with a visual analog scale (VAS) both pre- and postoperatively., Results: All patients reported a decrease in the intensity of pain postoperatively. Nineteen patients (52.7%) reported complete relief. The difference between the preoperative (mean 8.62) and postoperative VAS pain scores (mean 2.11) was statistically very significant (p = 0.0000). No major complications were encountered., Conclusion: The removal of contact points in patients with RCPH is very effective in carefully selected patients., (Copyright © 2010 S. Karger AG, Basel.)

Many proteins necessary for sound transduction have been identified through positional cloning of genes that cause deafness. We report here that mutations of LRTOMT are associated with profound nonsyndromic hearing loss at the DFNB63 locus on human chromosome 11q13.3-q13.4. LRTOMT has two alternative reading frames and encodes two different proteins, LRTOMT1 and LRTOMT2, detected by protein blot analyses. LRTOMT2 is a putative methyltransferase. During evolution, new transcripts can arise through partial or complete coalescence of genes. We provide evidence that in the primate lineage LRTOMT evolved from the fusion of two neighboring ancestral genes, which exist as separate genes (Lrrc51 and Tomt) in rodents.

Myosin XVA is an unconventional myosin which has been implicated in autosomal recessive nonsyndromic hearing impairment (ARNSHI) in humans. In Myo15A mouse models, vestibular dysfunction accompanies the autosomal recessive hearing loss. Genomewide homozygosity mapping and subsequent fine mapping in two Turkish families with ARNSHI revealed significant linkage to a critical interval harboring a known deafness gene MYO15A on chromosome 17p13.1-17q11.2. Subsequent sequencing of the MYO15A gene led to the identification of a novel missense mutation, c.5492G-->T (p.Gly1831Val) and a novel splice site mutation, c.8968-1G-->C. These mutations were not detected in additional 64 unrelated ARNSHI index patients and in 230 Turkish control chromosomes. Gly1831 is a conserved residue located in the motor domains of the different classes of myosins of different species. Molecular modeling of the motor head domain of the human myosin XVa protein suggests that the Gly1831Val mutation inhibits the powerstroke by reducing backbone flexibility and weakening the hydrophobic interactions necessary for signal transmission to the converter domain., (Copyright (c) 2007 Wiley-Liss, Inc.)

In a consanguineous Turkish family, a locus for autosomal recessive nonsyndromic hearing impairment (ARNSHI) was mapped to chromosome 2q31.1-2q33.1. Microsatellite marker analysis in the complete family determined the critical linkage interval that overlapped with DFNB27, for which the causative gene has not yet been identified, and DFNB59, a recently described auditory neuropathy caused by missense mutations in the DFNB59 gene. The 352-amino acid (aa) DFNB59 gene product pejvakin is present in hair cells, supporting cells, spiral ganglion cells, and the first three relays of the afferent auditory pathway. A novel homozygous nonsense mutation (c.499C>T; p.R167X) was detected in the DFNB59 gene, segregating with the deafness in the family. The mRNA derived from the mutant allele was found not to be degraded in lymphocytes, indicating that a truncated pejvakin protein of 166 aa may be present in the affected individuals. Screening of 67 index patients from additional consanguineous Turkish families with autosomal recessive hearing impairment revealed a homozygous missense mutation (c.547C>T; p.R183W) that segregates with the hearing impairment in one family. Furthermore, in a panel of 83 Dutch patients, two additional novel mutations (c.509_512delCACT; p.S170CfsX35 and c.731T>G; p.L244R), which were not present in ethnically matched controls, were found heterozygously. Together, our data indicate that also nonsense mutations in DFNB59 cause nonsyndromic hearing loss, but that mutations in DFNB59 are not a major cause of nonsyndromic hearing impairment in the Turkish and Dutch population., ((c) 2007 Wiley-Liss, Inc.)