Mutations in the gap junction protein beta-2 gene (‘GJB2’) are known to be responsible for mild to profound congenital and late-onset hearing loss. This study aimed to investigate the molecular basis of progressive hearing loss compared with non-progressive hearing loss.

Following clinical otorhinolaryngological evaluation, a genetic analysis was performed in a cohort of 72 patients with progressive sensorineural hearing loss.

Pathological genotypes were established in 16 patients (22.2 per cent). Six different gap junction protein beta-2 gene mutations were detected in 15 patients, with the c.35delG mutation responsible for 56 per cent of the mutated alleles. A novel gap junction protein beta-6 gene (‘GJB6’) mutation (p.Met203Val) was observed in one patient with mild progressive hearing loss.

Analyses of gap junction protein beta-2 and -6 genes revealed that similar pathological genotypes, occurring with similar frequencies, were responsible for progressive hearing loss, compared with reported genotypes for non-progressive hearing loss patients. Thus, genotype cannot be used to differentiate non-progressive from progressive hearing loss cases; in this study, patients both with and without an established pathological genotype had a similar clinical course.

Adipose-derived stem cells have been reported as a novel candidate for the repair of cartilage injuries in vivo.

In order to assess their differentiation ability, adipose-derived stem cells isolated from rabbit fat tissue were injected into the midportion of a surgically created rabbit ear auricle cartilage defect. After several months, the auricles were resected, histopathologically assessed and compared with a control group.

Histopathological examination of auricles removed three, four and five months after injection showed islands of new cartilage formation at the site of the surgically induced defect. Six months after injection, we observed well-formed, mature cartilaginous plates that completely filled the defect in the native cartilage. In the control group, there was no significant growth of new cartilage.

The results of this study suggest the great potential of adipose-derived stem cells to repair damaged cartilage tissue in vivo.

The pathogenesis of cholesteatoma remains unclear, despite several theories. Alterations in the density of mast cells positive for cluster of differentiation 117 protein (also known as CD117) can be critical to cholesteatoma formation, due to the effect on keratinocyte growth factor production. This study aimed to investigate the potential role of these mast cells in cholesteatoma pathogenesis.

The number and density of mast cells positive for cluster of differentiation 117 protein were immunohistochemically analysed in 52 patients: 22 with chronic otitis media alone (group one), 25 with chronic otitis media with cholesteatoma (group two) and five controls.

The number of these mast cells was much higher in group two (in cholesteatoma matrix tissue) than in group one (in chronic otitis media granulation tissue) or the controls (in normal post-auricular skin). The density of these mast cells was significantly greater in group two than in group one or the controls (p < 0.05). The number and density of these mast cells was much greater in group one than in controls (p < 0.01).

Mast cells positive for cluster of differentiation 117 protein could play a role in cholesteatoma formation. Further investigation of the role of these mast cells in cholesteatoma may suggest new ways of addressing this disorder, and may enable the development of targeted treatments.

This study aimed to determine the prevalence of nasal polyps in patients with allergic rhinitis and with asthma, and also to assess the impact of this condition on these disorders.

Cross-sectional study.

The presence of nasal polyps was assessed by rhinoscopy and endoscopic examination.

Nasal polyps were detected in 60 out of 250 patients (24 per cent) with documented asthma or allergic rhinitis. There was a statistically significant correlation between asthma severity and nasal polyposis prevalence (p = 0.007), but not between allergic rhinitis severity and nasal polyposis prevalence (p = 0.081). The prevalence of nasal polyps increased significantly with increasing patient age and rhinitis or asthma duration.

The prevalence of nasal polyps in patients with allergic rhinitis or asthma was higher than previously reported. Given this high prevalence of nasal polyposis, nasal examination and concomitant treatment of this disorder are recommended.

To compare mucosal and bony measurements in patients with congenital and traumatic nasal septum deviation and compensatory inferior turbinate hypertrophy.

The study examined 50 patients with nasal septum deviation (25 congenital and 25 traumatic) and compensatory inferior turbinate hypertrophy in the contralateral nasal cavity, confirmed by computed tomography.

The study compared inferior turbinate measurements on the concave and convex sides of the septum, in the congenital and traumatic groups. Measurements comprised: the shortest distance from the median line to the medial border of the conchal bone; the distances from the most medial part of the conchal mucosa and the conchal bone to the lateral line; the projection angle of the inferior turbinate; and the widest parts of the whole inferior turbinate and the inferior turbinate conchal bone. The differences between the concave and convex side measurements were compared in the congenital group versus the traumatic group; for three measurements, the difference between these two groups was statistically significant (p < 0.05).

The present study findings suggest that the conchal bone has a marked influence on nasal patency in patients with congenital septal deviation. These findings supported the decision to excise the inferior turbinate bone at the time of septoplasty, especially when treating congenital septal deviation.

To evaluate the effect of meticulous endoscopic surgery, including opening of all involved sinus cells, on the subsequent symptoms and endoscopic findings of patients with massive nasal polyposis.

One hundred patients with massive nasal polyposis resistant to medical treatment were selected. We documented each patient's demographic data, associated diseases, endoscopic findings, Lund–Mackay score and Sino-Nasal Outcome Test 22 (SNOT22) symptom score. All patients were followed up for at least two years to evaluate any recurrence.

Of the 100 patients, 20 per cent had a history of asthma and 27 per cent had undergone previous surgery. All underwent endoscopic sinus surgery. After two years of follow up, 8 per cent had recurrence requiring surgery. Recurrence was significantly associated with a history of asthma (p < 0.001) and the histopathological presence of eosinophilia (p = 0.014).

Meticulous endoscopic opening of all involved sinus cells can be a safe and effective means of controlling massive nasal polyposis, with an acceptable recurrence rate.

Dissection of neck levels I and IIB is time-consuming and can cause comorbidity. This study aimed to determine whether level I and IIB neck dissection was necessary in patients with laryngeal cancer and clinically detectable or nondetectable neck nodes.

This was a retrospective review of 73 patients with laryngeal cancer. Essential clinical data were obtained and analysed to determine the incidence of neck node metastasis in levels I and IIB.

Of the 48 patients with no clinically apparent neck nodes, none had level I metastases and only one had level IIB metastases. Of the patients with clinically detectable neck nodes, three of 21 patients had level I metastases and three of 25 patients had level IIB metastases; these six patients also had additional metastases in level IIA.

Dissection of neck levels I and IIB is justifiable in laryngeal cancer patients with clinically detectable neck nodes and suspicious lymph nodes in the respective level or level IIA. However, in patients without clinically detectable neck nodes, preservation of levels I and IIB is oncologically safe, economical and reduces the risk of comorbidity.

The Patient Concerns Inventory is a holistic, self-reported screening tool for detecting unmet needs in head and neck cancer patients. This study aimed to assess its value in screening for self-perceived swallowing and speech concerns, and in facilitating multidisciplinary supportive care.

The Patient Concerns Inventory and the University of Washington Quality of Life questionnaire were completed by 204 post-treatment patients attending routine out-patient review clinics, and those with speech or swallowing issues were identified.

Swallowing and speech issues were respectively reported by 21 and 7 per cent of University of Washington questionnaire respondents and by 17 and 13 per cent of Patient Concerns Inventory respondents. The two surveys combined indicated that speech or swallowing issues arose in 39 per cent of consultations (n = 178), involving 48 per cent of patients (n = 97). Of these 97 patients, 74 were known to the speech and language therapist. The remaining 23 patients had their concerns discussed in the clinic; three were referred on, and were assessed by the speech and language therapist and given appropriate interventions.

The use of both surveys concurrently enabled all patients with swallowing or speech issues to discuss these concerns in the clinic and to access appropriate multidisciplinary interventions.

Flexible nasoendoscope is an important tool in otorhinolaryngology practice. The endoscope needs to be decontaminated prior to use in the next patient. The 2005 ENT-UK guidance for cleaning fibre-optic laryngoscopes stated that the ideal disinfecting agent and process should be effective and have low capital and maintenance costs.

To compare the efficacy and cost-effectiveness of chlorine dioxide wipes versus automated washer, for decontamination of flexible nasendoscopes.

A sequential cohort, in vitro study was performed to test the efficacy of chlorine dioxide wipes and automated washer. Costs were also calculated.

After deliberate bacterial contamination of the nasendoscope and subsequent decontamination, swab samples from the endoscope showed Staphylococcus epidermidis growth in 2 per cent (1/50 swabs) of the chlorine dioxide wipe group and in 28 per cent (14/50 swabs) of the automated washer group (p = 0.00). Based on a projected 10-year cost calculation, the automated washer was cheaper.

Further studies are required to test whether these results are replicable. A similar study should be performed using real patients, to check the significance of improper decontamination.

To evaluate the haemostatic efficacy and safety of the LigaSure vessel sealing system in major head and neck cancer surgery.

This two-year, prospective study included 34 patients who underwent major head and neck cancer surgery at a university hospital. The LigaSure Precise handpiece and LigaSure 8 vessel sealing system were utilised as the primary means of haemostasis, except when sealing vessels larger than 7 mm in diameter. Surgical outcomes were evaluated. In addition, in each patient the diameter of the largest vein and artery sealed (all were >2 mm) was measured before sealing.

In all cases except one (33/34 patients), a sutureless technique was performed. Post-operative bleeding was observed in two cases. Thirty veins and 22 arteries were measured. The mean diameter of the largest sealed vein was 3.8 mm, while that of the largest sealed artery was 2.7 mm.

Our experience indicates that the surgical technique described is safe and effective. The main advantages of the LigaSure system are that it simplifies the procedure and eliminates the need for clips and suture ligations.

Leishmaniasis comprises a group of diseases transmitted by the bite of infected sand flies. There are three basic clinical forms of leishmaniasis: cutaneous, mucocutaneous and visceral. Leishmaniasis may mimic neoplastic lesions and other infectious diseases because of similar disease localisation, physical characteristics and histopathological findings.

A 35-year-old man was referred to our clinic with a presumed diagnosis of angiolymphoid hyperplasia of the auricle; however, this lesion proved to be cutaneous leishmaniasis. The definitive diagnosis was reached by identifying the parasites on smears obtained from the lesion.

It should be borne in mind that cutaneous leishmaniasis presenting as isolated auricular lesions may mimic neoplasia. In the present case report, we discuss auricular cutaneous leishmaniasis and we review the relevant literature.

We report a case of bilateral acute mastoiditis and subperiosteal abscesses successfully managed with simultaneous surgery.

A case report and literature review are presented.

A two-year-old boy presented with fever, otalgia, otorrhoea and bilateral protruding ears. He was treated for 72 hours with intravenous antibiotics but failed to improve. Computed tomography confirmed bilateral mastoid abscesses with destruction of the mastoid cortex. Bilateral drainage of the subperiosteal abscesses and bilateral cortical mastoidectomies were carried out. Post-operatively, he recovered well, and free field audiometry showed a normal hearing threshold of 20 dB across all test frequencies.

This is only the second reported case of bilateral mastoiditis and subperiosteal abscesses. This case illustrates the use of bilateral cortical mastoidectomy in the successful management of this condition following failed antibiotic therapy, and highlights important management considerations.

To report a case of sebaceoma of the auricle, and to discuss the differential diagnosis, histopathological features, surgical management and genetic associations of this entity.

Case report and review of the medical literature.

A 79-year-old man presented with a slowly growing lesion of his auricle. Excision of the mass and histopathological review revealed a benign, basaloid, adnexal neoplasm consistent with sebaceoma. Due to its association with Muir–Torre syndrome and increased risk of visceral malignancy, the patient was followed closely for signs of malignancy. At 36 months post-excision, there were no signs of recurrence; thereafter, the patient continued to receive routine cancer surveillance follow up.

Sebaceoma is a rarely encountered, benign, adnexal neoplasm which can occur in the head and neck. The treatment is surgical excision, and recurrence is rare. Sebaceoma can occur as part of Muir–Torre syndrome, and in these patients there is an increased risk of other sebaceous lesions and visceral malignancy; thus, genetic testing and surveillance should be strongly considered.

To describe the differential diagnosis of recurrent or bilateral peripheral facial palsy.

Case report and literature review.

Two patients with recurrent, alternating, peripheral facial palsy are described. In both patients, additional investigation was performed to search for a specific diagnosis. In the first patient, only a positive family history was found, indicating a possible familial susceptibility. In the other patient, diabetes mellitus and hypertension were identified as risk factors.

There is an important and extensive differential diagnosis of recurrent or bilateral facial palsy. However, in a large proportion of patients the cause remains unknown.

Temporomandibular joint fistula into the external auditory canal is a very rare condition. We report a case of spontaneous fistula which presented with repeated episodes of clear fluid otorrhoea and ear infection.

A 53-year-old woman complained of occasional episodes of clear fluid otorrhoea from the right ear followed by infection. Otoscopic examination showed a normal tympanic membrane and normal skin in the external auditory meatus. Otomicroscopy showed a small punctum on the anteroinferior part of the meatus. Computed tomography identified a foramen of Huschke. Surgery revealed a fistula between the meatus and the temporomandibular joint, which was successfully resolved.

This report presents a rare case of a fistula between the temporomandibular joint and the external auditory meatus, associated with Huschke's foramen. Such a defect can be quite difficult to detect. It should be suspected in cases of chronic otorrhoea when neither middle nor external ear disease is apparent. Surgery is usually successful, and is advised in cases with repeated complications.

We report an extremely rare case of a giant invasive prolactinoma presenting as a nasopharyngeal tumour.

Case report and literature review regarding giant prolactinoma.

Giant prolactinoma is a rare form of prolactinoma which accounts for 0.5–4.4 per cent of all pituitary tumours. It is more common in men and generally presents with symptoms of endocrine disturbance or neurological deficit.

To our knowledge, this is the first report of giant prolactinoma presenting with symptoms of sinusitis and nasopharyngeal tumour.

We report an unusual case of a fungus ball in the concha bullosa, without involvement of the paranasal sinuses.

A 29-year-old woman presented complaining of nasal obstruction and postnasal discharge. Paranasal computed tomography demonstrated that the concha bullosa in the right middle turbinate was filled with a high-density material. The patient underwent endoscopic resection of the concha bullosa, during which a dark brown, cheese-like material was found. Histopathological examination of the excised specimen revealed a fungus ball.

Fungus balls are non-invasive accumulations of dense fungal concretions that generally affect healthy individuals. In the sinonasal region, they occur most frequently in the maxillary sinus. Although fungus ball formation in the concha bullosa is unusual, it should be considered in the differential diagnoses of middle turbinate and sinonasal pathology.

To describe three rare cases of nasolacrimal relapse of nasopharyngeal carcinoma, and to discuss the route of tumour spread from nasopharynx to lacrimal system as well as the relevant computed tomography findings.

We report three cases of nasolacrimal relapse in patients with previously treated nasopharyngeal carcinoma. The common initial presentations in these cases were epiphora and medial canthal swelling. The tumour spread from the nasopharynx to the lacrimal sac along the lateral nasal wall and nasolacrimal canal. Computed tomography demonstrated nasolacrimal canal invasion and osteomeatal complex obliteration by the tumour. Distant metastasis was detected in two cases.

More targeted radiotherapy should be delivered to prevent under-treatment of nasopharyngeal carcinoma. Nasolacrimal relapse of nasopharyngeal carcinoma is an advanced disease with a poor prognosis.