[Late neck metastasis in esthesioneuroblastoma: a case report].

Esthesioneuroblastoma is a rare malignancy of olfactory neuroepithelium arising from sinonasal region. It has biologically an aggressive behavior. The tumor is characterised by common local recurrence, atypic distant metastasis and poor long-term prognosis.

[Pull-through resection and peroral resection in early-stage (T1 and T2) tongue and floor of the mouth cancers: a comparison of two techniques].

Objectives: To compare oncological, functional, clinical and cosmetic results of peroral resection and pull-through resection in early stage (T1, T2) tongue and floor of the mouth cancers.

Patients And Methods: Forty-nine patients (23 females, 26 males; mean age 54.4 years; range 21 to 87 years) with stage T1 and T2 oral tongue and floor of the mouth cancers primarily treated with peroral resection or pull-through resection techniques between 1998 and 2008 were included in this study.

[Malignant peripheral nerve sheath tumor in the parotid gland developed on the basis of neurofibromatosis type 1].

Malignant peripheral nerve sheath tumors arising from the parotid gland are very rare. They can develop as sporadic cases, or on the basis neurofibromatosis type 1. Tumors originating from the parotid gland are generally easy to palpate and have a solid characteristic.

A novel homozygous COL11A2 deletion causes a C-terminal protein truncation with incomplete mRNA decay in a Turkish patient.

Recessive mutations in COL11A2 (collagen, type XI, alpha 2), are responsible for otospondylomegaepiphyseal dysplasia (OSMED) and non-syndromic hearing loss while dominant mutations are associated with Stickler type III, isolated cleft palate, Robin sequence, non-ophthalmic Stickler syndrome, early onset osteoarthritis and autosomal dominant hearing loss. We describe here the clinical findings of two Turkish cousins with OSMED carrying a novel homozygous truncating mutation in exon 38 of COL11A2 gene, c.2763delT, identified on cDNA and confirmed at gDNA.

Oncological results of surgical treatment of malignant tumors of the nasal vestibule.

Objectives: We evaluated functional results of surgical treatment for squamous cell carcinoma of the nasal vestibule.

Patients And Methods: A retrospective review of 2,763 patients treated for head and neck cancers between 1991 and 2000 revealed 10 cases of nasal vestibule tumors, with an incidence of 0.36%.

MYO15A (DFNB3) mutations in Turkish hearing loss families and functional modeling of a novel motor domain mutation.

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.

Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss.

In two large Turkish consanguineous families, a locus for autosomal recessive nonsyndromic hearing loss (ARNSHL) was mapped to chromosome 6p21.3 by genome-wide linkage analysis in an interval overlapping with the loci DFNB53 (COL11A2), DFNB66, and DFNB67. Fine mapping excluded DFNB53 and subsequently homozygous mutations were identified in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene, also named tetraspan membrane protein of hair cell stereocilia (TMHS) gene, which was recently shown to be mutated in the "hurry scurry" mouse and in two DFNB67-linked families from Pakistan.

Frequencies of gap- and tight-junction mutations in Turkish families with autosomal-recessive non-syndromic hearing loss.

Mutations in genes encoding gap- and tight-junction proteins have been shown to cause distinct forms of hearing loss. We have now determined the GJB2[connexin 26 (Cx26)] mutation spectrum in 60 index patients from mostly large Turkish families with autosomal-recessive inherited non-syndromic sensorineural hearing loss (NSSHL). GJB2 mutations were found in 31.

Incidence of cochlear involvement in hyperbilirubinemic deafness.

Neonatal hyperbilirubinemia remains an important cause of childhood deafness, especially in developing countries. After neonatal hyperbilirubinemia, the auditory neural pathways, cochlea, or both may be affected. In this study, we aimed to determine the incidence of cochlear impairment and the appropriate means of hearing screening in hyperbilirubinemic neonates.

The novel R75Q mutation in the GJB2 gene causes autosomal dominant hearing loss and palmoplantar keratoderma in a Turkish family.

Dominant mutations in the GJB2 gene encoding connexin 26 (Cx26) can cause non-syndromic hearing impairment alone or in association with palmoplantar keratoderma (PPK). We have identified the novel G224A (R75Q) mutation in the GJB2 gene in a four-generation family from Turkey with autosomal dominant inherited hearing impairment and PPK. The age of onset and progression of hearing loss were found to be variable among affected family members, but all of them had more severe impairment at higher hearing frequencies.

Management of carotid artery invasion in advanced malignancies of head and neck comparison of techniques.

The objective of this study was to retrospectively investigate a single institution's experience with carotid artery resection performed as part of an oncological procedure and to determine acute and convalescent complication and survival rates. We performed a record review of 28 patients with head and neck malignancy invading the carotid artery. Immediate carotid artery resection and ligation on an emergent basis was performed on 12 patients (group 1), elective resection and ligation was performed on 8 patients (group 2), and elective resection and revascularization was performed on 8 patients (group 3).

The functional and oncologic effectiveness of near-total laryngectomy.

Purpose: To investigate the oncologic efficiency of near-total laryngectomy for advanced laryngeal and neighboring organ cancers and to evaluate the functional results.

Materials And Methods: A retrospective review of 135 cases of near-total laryngectomy carried out in a tertiary university hospital between 1989 and 2000 was undertaken. The original operation was carried out in 3 groups: classic "near-total laryngectomy" for endolaryngeal lesions; "near-total laryngectomy and partial pharyngectomy" for lesions originating from the pyriform sinus or lesions with extension to the pharynx or tongue base but reconstructed primarily; and "near-total laryngopharyngectomy" for lesions requiring pedicled flap reconstruction after resection.

An indolent course of multiple myeloma mimicking a solitary thyroid cartilage plasmacytoma.

Multiple myeloma, solitary plasmacytoma, and extramedullary plasmacytoma constitute a continuum of a disease spectrum, which is called plasma cell neoplasms. These three entities can not be differentiated from each other on a histological basis and, for this reason, clinical evaluation is important in their differential diagnoses. Differential diagnosis guides the proper planning of treatment and helps in estimation of survival.

Does the addition of hyperbaric oxygen therapy to the conventional treatment modalities influence the outcome of sudden deafness?

Objective: To investigate the therapeutic effects of the addition of hyperbaric oxygen (HBO) therapy to the conventional therapies in sudden deafness (SD) and to investigate the influence of patient age on the effectiveness of HBO therapy.

Study Design And Setting: We undertook a retrospective review of 50 cases of SD treated at a tertiary university hospital. Twenty-five patients (group 1) were treated with betahistine hydrochloride, prednisone, and daily stellate ganglion block.

Near-total laryngectomy for laryngeal carcinomas with subglottic extension.

Objective: To investigate whether Pearson classic near-total laryngectomy is a sensible surgical treatment modality for laryngeal carcinomas with subglottic extension.

Design: Retrospective analysis of patients treated by near-total laryngectomy in a university hospital that is an academic tertiary health care center.

Participants And Intervention: Medical and computer records of 135 patients who were treated by near-total laryngectomy for laryngeal and hypopharyngeal carcinomas between April 1, 1989, and June 30, 2000, were searched thoroughly, and the final outcomes were confirmed by telephone contact.

The site of the hearing loss in Refsum's disease.

Refsum's disease is a disorder of lipid metabolism with pigmentary retinopathy, demyelinating neuropathy, ataxia, and hearing loss. Previous histological studies have located the site of hearing impairment in the inner ear, but it has never been confirmed audiologicaly in the literature. In this reported case of Refsum's disease, despite hearing loss and absence of response in ABR, robust otoacoustic emissions were measured.

Audiometric manifestations of Waardenburg's syndrome.

We studied 23 patients (from 11 families) who had Waardenburg's syndrome. Patients were evaluated by conventional audiometric methods and by distortion-product otoacoustic emissions to determine the penetrance and the degree and type of hearing loss. Twelve of the patients had the type I form of the syndrome and 11 had type II.

The place of conservation surgery for T3 laryngeal carcinomas with fixation.

Although the traditional surgical treatment of T3 laryngeal carcinomas is total laryngectomy, we have obtained favorable survival results for selected cases with partial laryngectomy, as exemplified in the literature. Extending the indications up to ultimate limits by partial, but radical surgical techniques is the recent trend in the world, for the conservation surgery of laryngeal cancers. The primary treatment of T3 laryngeal cancers, instead of irradiation, should be surgical and, for select cases partial laryngectomy, depending on laryngeal embryological development and lymphatic drainage, may be carried out.

Adult aqueductal stenosis presenting with fluctuating hearing loss and vertigo. Report of two cases.

Two cases of aqueductal stenosis presenting with fluctuating hearing loss, tinnitus, and vertigo are presented. Audiovestibulometric assessment of both cases disclosed the characteristic pattern of disorder of the membranous inner ear. Non-tumoral aqueductal stenosis was demonstrated by computerized tomography in one case and by positive contrast ventriculography in the other.