Omer Aydin

A Genotype-Phenotype Correlation with Gender-Effect for Hearing Impairment Caused by TECTA Mutations

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.

Choanal polyps: an evaluation of 53 cases.

Background The aim of this study was to evaluate our experience on the diagnosis and treatment of choanal polyps (CP). Methods This study consists of 53 patients with CP diagnosed by means of rhinoscopy, nasal endoscopy, computerized tomography, surgical, and histologic findings between 1996 and 2005. Results The origins of the CPs were the unilateral maxillary sinus in 47 patients, simultaneously bilateral maxillary sinus in 2 patients, septum in 2 patients, sphenoid sinus in 1 patient, anterior ethmoid sinus in 1 patient. The most common presenting symptoms were unilateral nasal obstruction, snoring, and rhinorrhea. In the cases of the antrochoanal polyps, the most common preoperative radiological finding was the total opacification of the maxillary sinus. Conclusion Endoscopic approach for complete removal of the CPs is an extremely safe and effective procedure. It should be focused on the detection of the exact origin and the extent of the polyp to prevent recurrence.

Laryngeal amyloidosis with laryngocele

Both laryngocele and laryngeal amyloidosis are uncommon, and simultaneous occurrences of these entities are extremely rare. A case of laryngeal amyloidosis with laryngocele in which the computed tomography (CT) and magnetic resonance (MR) imaging of the larynx, clearly demonstrating both disease processes, is discussed. Diagnosis is confirmed by histopathologic specimens. Only two cases have been reported in the world literature, and this is the third case of laryngeal amyloidosis associated with laryngocele.

Pneumatization of the inferior turbinate

Pneumatization of the inferior turbinate is an extremely rare intranasal anatomical variation. Only a few cases have been reported yet. In this paper we present two cases, one unilateral and one bilateral case with pneumatization of the inferior turbinate.

Endoscope-assisted transoral approach to parapharyngeal space tumors.

Parapharyngeal space (PPS) tumors are rare tumors for which the surgical management differs widely. The purpose of this study was to discuss the advantages and disadvantages of the endoscope‐assisted transoral approach over the traditional approaches.

Use of Diced Cartilage Grafts Wrapped with Amniotic Membrane in Soft Tissue Augmentation: Experimental Study:

Objectives: Correcting nasal dorsal deformities and irregularities often requires biological or alloplastic materials. In rhinoplasty, a frequent postoperative problem is a rough and rigid nasal dorsum. The purpose of this experimental study was to investigate the feasibility of using diced cartilage grafts wrapped in amniotic membrane for soft tissue augmentation. Methods: Diced cartilage grafts wrapped with amniotic membrane were transplanted to a subcutaneous tunnel that was made in the back in 20 rats. After 2 months, the histopathologic changes that occurred in the grafts were examined by light microscopy. Results: When the diced cartilage grafts wrapped in amniotic membrane were examined, each graft displayed different viability rates. Conclusions: In soft tissue augmentation, especially in the nasal dorsum, amniotic membrane can be used to keep the diced cartilage viable and adjoined.

A rare anatomical variation of the spinal accessory nerve.

Considerable inter- and intra-individual anatomical differences can be observed during neck dissections. In this case report, we describe an unusual relationship of the accessory nerve to the internal jugular vein.

J incision in neck dissections.

Metastasis in the neck lymph system of primary tumours of the head and neck is frequently seen. In order to prevent this metastasis, neck dissection is carried out by various types of skin incisions. In this study, types of skin incision used in neck dissections were defined, and the advantages, disadvantages and results of J incisions, which have been performed on 320 radical neck dissection patients in our clinic between 1985-1996, were compared with those of other incision types.

Radiofrequency Ablation in the Treatment of Idiopathic Bilateral Palatal Myoclonus: A New Indication

Objectives: We tested the effect of radiofrequency ablation in the treatment of palatal myoclonus refractory to other therapeutic regimens. Methods: A 20-year-old patient who presented with palatal myoclonus and annoying rhythmic objective clicking noise was treated with a radiofrequency generator with topical and local anesthesia in an outpatient setting. Results: The clicking noise was abolished within 3 to 4 days of the radiofrequency ablation. The rhythmic, jerky movements of the soft palate were confirmed to be absent 2 weeks later with electromyographic studies. The patient has been symptom-free for 6 months, and no side effects have occurred. Conclusions: As a new indication, radiofrequency ablation may effectively abolish abnormal movements of the soft palate and relieve associated tinnitus.

Combined use of histopathology with touch smear cytology in biopsies of the larynx

The aim of this prospective study is to evaluate the effectiveness of combined use of histopathology with cytology in biopsies of the larynx. Biopsies taken for this purpose are studied by using two different methods and the results are evaluated. One hundred and thirty-five patients with suspected malignant laryngeal lesions were examined by direct microlaryngoscopy for primary diagnosis. Each lesion was biopsied first. Subsequently touch smear cytology was obtained from the biopsies. In all cases, cytologic slides (one or two per biopsy) were screened and compared to corresponding biopsies. Lesions were categorized as benign, laryngeal intraepithelial neoplasia and malignant. Results obtained were compared with surgical samples obtained from patients who have undergone surgery. In other cases, where surgery was not applied, results of the follow-up were evaluated. In larynx biopsies the results for histopathology were as follows: sensitivity 93.9%, specificity 100% and accuracy 96.3%. The results for cytology were as follows: sensitivity 82.5%, specificity 94.5% and accuracy 87.4%. A comparison of cytologic evaluation versus histopathologic evaluation in laryngeal biopsies reveals that histopathology is superior. According to the study results, in 88.9% (120/135) of the cases the agreement between cytological and histopathological results was found. In two other cases (1.5%) cytologic evaluation contributed to the histopathologic diagnosis.