Genetic screening for hearing loss.

The recent discovery that mutations in GJB2, the gene that encodes connexin 26 (Cx26), are responsible for up to half the cases of autosomal recessive non-syndromic hearing loss and a significant proportion of sporadic hearing loss has had immense implications for medical evaluation and genetic screening. It is now possible to couple mutational analysis of GJB2 with universal screening and provide an unequivocal diagnosis of inherited hearing loss in up to 50% of babies with severe to profound non-syndromic hearing loss. Currently, other genetic tests should be performed on the basis of specific clinical features. Current potential candidates for screening include SLC26A4, in the presence of specific temporal bone anomalies, and WFS1, in the presence of a low-frequency hearing loss.

Sigmoid sinus thrombosis: an old foe revisited.

Sigmoid sinus thrombosis (SST) has become increasingly uncommon. In the pre-antibiotic era this condition had a mortality rate of over 90%.1 A high index of suspicion is required to make the diagnosis. We present a rare case of sigmoid sinus thrombosis secondary to mastoiditis, which illustrates the problems of delayed diagnosis. This report highlights the importance of rapid diagnosis and early surgical intervention. We emphasis the need for scanning and otolaryngology referral in all cases of middle ear disease associated with pain or vertigo which does not resolve rapidly on appropriate antibiotic therapy.

Blood splash and tonsillectomy: an underestimated hazard to the otolaryngologist.

Mucocutaneous exposure is an important route of transmission of hepatitis viruses and HIV in healthcare workers. Few data exist in the literature on the risk of transconjunctival exposure during many surgical procedures. We investigated the use of eye protection during tonsillectomy and measured the incidence of potential eye splash. No otolaryngologist surveyed routinely used eye protection during tonsillectomy. Splash events occurred in 23 out of 103 tonsillectomies. In all cases the surgeon was unaware of the splash. Splash events were significantly more likely to occur during adult tonsillectomy (p < 0.05). We strongly advise the routine use of eye protection during tonsillectomy.

Surgical landmarks of the spinal accessory nerve in modified radical neck dissection.

We designed a study to identify useful landmarks for the preservation of the spinal accessory nerve during modified radical neck dissection (MRND). Eighteen consecutive patients undergoing 23 MRNDs were enrolled in the study. The distance of the accessory nerve from the greater auricular nerve, where it crosses the posterior edge of the sternocleidomastoid muscle (greater auricular point), was noted. The vertical distance between the point of entrance of the accessory nerve into the trapezius muscle and the clavicle was also measured. The mean distance between the greater auricular point and the accessory nerve was 10.7 mm, SD +/- 6.3. In all cases the accessory nerve was above the greater auricular point. The mean distance between the point of entrance of the nerve into the trapezius and the clavicle was 51.3 mm, SD +/- 17. The greater auricular point is a reliable landmark for the identification of the accessory nerve during modified radical neck dissection. Distance above the clavicle was less helpful.

Genetics of hearing impairment.

Our understanding of the genetics of hearing impairment (HI) has advanced rapidly during the last decade. In this review, we focus on HI due to single gene abnormalities, highlighting some of the more common causes of syndromic HI. We also outline the current state of knowledge of the genetics of non-syndromic HI. The most significant clinical advance has been the finding that mutations in GJB2 cause half of moderate-to-profound congenital hereditary deafness in many world populations. The implications of this finding for screening and genetic counseling are discussed.

Does intratympanic gentamicin treatment for Meniere's disease cause complete vestibular ablation?

OBJECTIVE: To determine changes in vestibular function following intratympanic gentamicin (ITG) treatment for Meniere's disease and to correlate changes with the need for further treatment. STUDY DESIGN: Prospective case series. PATIENTS: One hundred and three patients with disabling unilateral Meniere's disease who had failed a minimum of 6 months medical treatment. MAIN OUTCOME MEASURES: Vestibular function was measured by electronystagmography (ENG) caloric testing before and serially following treatment. Caloric responses were classified as normal (excitability difference [ED] < 25%), bithermal response (ED > or = 25%), positive response to ice water only, and absent ice water response. RESULTS: Twenty-one percent of patients had a bithermal caloric response, 62% had an absent ice water response, and 17% had an ice water response only 1 month following treatment. Mean follow-up was 27.3 months (range = 1-106 months). Eighty-four patients had one treatment course only. Fourteen patients required a further course of treatment due to recurrence of vertigo; 38% of these had recovery of caloric function. Significantly more patients with normal caloric function prior to initial treatment required further treatment compared to those with initial reduced caloric function (p < .05). Patients rendered absent ice water responsive were significantly less likely to require further treatment than those with a persistent caloric response (p < .0001). CONCLUSION: An absent ice water response is highly predictive of adequate vertigo control. Regimens of ITG that aim to completely ablate vestibular function are recommended.

Intra-ocular pressure changes following laryngeal mask airway insertion: a comparative study.

We compared the effects of the Brain laryngeal mask airway with a tracheal tube on intra-ocular pressure. Propofol was used as induction agent and atracurium as relaxant. Twenty-six patients with normal intra-ocular pressure undergoing cataract surgery were randomly allocated to two groups. Group A (n = 13) had a laryngeal mask airway inserted and Group B (n = 13) had a tracheal tube inserted. Intra-ocular pressure was measured just before insertion of the airway, 20 s after insertion and at 2 min. In the laryngeal mask airway group there were no significant changes in mean intra-ocular pressure. In the tracheal tube group there was a significant rise in mean intra-ocular pressure at 20 s (p = 0.0056) which returned to pre-insertion levels at 2 min. We conclude that the laryngeal mask airway continues to have advantages over the tracheal tube for ophthalmic surgery despite the use of propofol and atracurium as anaesthetic agents.

The effect of tonsillectomy on eustachian tube function.

A two-part study was designed to investigate the effect of tonsillectomy on eustachian tube function and to identify if any change is related to postoperative pain. Middle ear pressure was measured by tympanometry and results were classified as type A (+50 daPa to -99 daPa), type B (flat) or type C (-100 daPa to -350 daPa). Thirty-one patients with type A tympanograms, undergoing tonsillectomy enrolled in study A. Patients had tympanometry the next day and filled in a questionnaire incorporating visual analogue pain scores. In study B, 30 patients underwent a similar protocol and were followed up at 1 week tympanometry and a questionnaire. A control group of 26 patients undergoing appendicectomy was recruited. Follow-up was available on 23 patients from study B. Combining A and B, on the first postoperative day 39% of patients developed type C tympanograms. No member of the control group developed any change in middle ear pressure. There was no significant relationship between pain scores for throat pain or otalgia and the development of negative middle ear pressure. By day 7 all patients had type A tympanograms. Otalgia was a delayed symptom significantly associated with increased throat pain. Transient negative middle ear pressure commonly occurs following tonsillectomy.

Prognostic factors in intraoperative facial nerve monitoring for acoustic neuroma.

OBJECTIVES: To determine the predictive value of intraoperative threshold stimulus for facial nerve outcome and the prevalence and prognostic value of persistent trains of activity and frequent spontaneous or mechanically induced contractions during acoustic neuroma surgery. STUDY DESIGN: Prospective recording and subsequent review of facial nerve activity. SETTING: Tertiary referral centre. PATIENTS AND METHODS: Consecutive patients undergoing acoustic neuroma surgery. Intraoperative facial nerve activity was digitised and stored on a personal computer for future analysis. Operative events were flagged. Recordings were available in 27 patients. MAIN OUTCOME MEASURES: Frequent mechanically induced contractions (< 20), prolonged trains of facial nerve activity (total time > 199 seconds), and facial nerve brainstem stimulus threshold were correlated with facial nerve outcome. RESULTS: A brainstem stimulus threshold > 0.1 mA was significantly associated with intermediate or poor facial nerve function (House-Brackmann grade > 2) on the sixth postoperative day, at 1 month and 6 months. Patients with normal or near-normal facial function on the first day and a threshold of > 0.1 mA were significantly more likely to develop a delayed facial nerve palsy. Frequent contractions were noted in 74% of patients and persistent train activity in 59%. Neither was predictive of facial nerve outcome. CONCLUSIONS: An elevated brainstem threshold is helpful in predicting delayed facial nerve palsy and suboptimal facial nerve outcome. Persistent train activity and frequent contractions, do not have major prognostic significance.

Clearance of recalcitrant psoriasis after tonsillectomy.

Infection is a well-recognized triggering factor for both guttate and chronic plaque psoriasis. We investigated prospectively 13 patients with recalcitrant psoriasis exacerbated by recurrent tonsillitis, who underwent tonsillectomy between 1990 and 1993. There were 12 female patients and one male, with a mean age of 17 yr (range 6-28). Six patients had guttate psoriasis resistant to standard treatments and seven patients had chronic plaque psoriasis exacerbated by tonsillitis that was severe enough to warrant at least one admission to hospital. Patients were followed by chart review and postal questionnaire. Psoriasis was cleared completely after tonsillectomy in five out of the six patients (83%) with guttate psoriasis and was improved in one patient. Two out of seven patients with plaque psoriasis (29%) were cleared, two (29%) were improved and three (42%) were unchanged. We conclude that tonsillectomy may be a successful treatment modality in selected patients with recalcitrant guttate or chronic plaque psoriasis.

[Dysphonia and inhalation of corticoids: a prospective study]. / La dysphonie et l'inhalation des corticoides: une étude prospective.

Dysphonia or hoarseness is a well recognised but poorly understood complication of inhaled steroid therapy. 20 asthmatics were investigated, using a perceptual rating score of hoarseness, videolaryngoscopy and videostroboscopy, prior to and after three months of high dose inhaled steroid therapy (1 mg/day). A group of 22 healthy volunteers acted as controls. Prior to commencing inhaled steroid therapy six of the asthmatics were hoarse. Erythema and oedema was noted in 10 asthmatics and vocal fold nodules in 2 asthmatics. 4 of the control group had erythema and oedema. There was significantly more vocal fold pathology in the asthmatic group, p = 0.0135. After three months of inhaled steroid therapy, improvement in voice was noted in 2 of the 6 hoarse asthmatics. This was associated with resolution of vocal fold nodules in one case and with resolution of oedema in another. One asthmatic developed a mid glottic chink. This study demonstrates that asthmatics have significantly more vocal fold pathology than healthy controls. These findings improve with commencement of inhaled steroid therapy. The development of steroid induced myopathy of the vocal folds is a possible cause for the development of a mid glottic chink in one of our subjects. Further studies are necessary to investigate this area further.

The radio-opacity of fishbones: a cadaveric study.

Lateral neck radiographs performed to localize impacted fishbones have a low sensitivity. The differing radio-opacities of the bones of various fish species may be a reason for this. A cadaver head and neck and the rib bones of 10 species of fish were used in this study. A laryngoscope was used to introduce a fishbone into the vallecula and then into the hypopharynx of the cadaver. A lateral radiograph was taken in each case. Ten control films were taken. The radiographs were independently reviewed by a consultant radiologist and otolaryngologist. The presence and position of any bone seen was noted. There was no inter-observer variation. All species of fishbone were visible. One bone was not seen by either observer. Visualization of fishbones is more dependent on position than their degree of radio-opacity. Routine radiography is recommended.

Malignant sinonasal tumours: the Dublin Eye and Ear Hospital experience.

We identified 51 patients from pathology and operative records who were treated in the Royal Victoria Eye and Ear Hospital with malignant sinonasal tumours between January 1980 and December 1991. Complete follow up was available in 43 patients. There were 30 males, mean age 50 years, range (10-80) and 13 females, mean age 59 years, range (34-75). Commonest presentations were nasal obstruction, nasal discharge and facial swelling. Patients presented late because of initial non specific symptoms. The maxilla was the site of origin in 18 patients, the ethmoids in 13 patients and the nasal cavity in 12 patients. There was a wide range of histological types with squamous cell carcinoma occurring in 19 patients (44%). All patients were treated with surgery, radiotherapy or a combination of both. Chemotherapy was used as an adjunctive therapy in three patients. Local recurrence occurred in 21 (50%) of the patients. Overall three year survival was 58% and five year survival was 45%. These figures compare favourably with larger series in the literature. A high index of suspicion, early recognition and referral of these patients is required to improve survival.

The role of Chlamydia pneumoniae in severe acute tonsillitis.

Chlamydia pneumoniae has been implicated as a cause of tonsillitis and pharyngitis, but the incidence has varied from one to 19 per cent in various studies. We investigated 51 patients admitted to University College Hospital, Galway, with severe tonsillitis. Throat swabs were examined for evidence of Chlamydia pneumoniae using a direct monoclonal antibody test. Blood was taken for serology from 45 patients. A further specimen was taken at six weeks. A control group of 32 blood bank sera was used. Mean hospital stay was three days (one to eight). Five patients (10 per cent) were monospot positive. Chlamydia pneumoniae was identified by direct immunofluorescence on a tonsillar swab from one patient who did not seroconvert. IgG antibody was identified in 13 cases (29 per cent) and in seven of the control group (22 per cent). No serological evidence of recent infection was found. Chlamydia pneumoniae was not found to be a cause of severe acute tonsillitis in our study group.