Objective To analyse the epidemiology of otosclerosis in a British cohort collected between 2011 and 2017. Design Retrospective cohort study. Setting Five UK ENT Departments. Patients Patients with surgically confirmed otosclerosis. Main Outcome Measures Questionnaire data documented family history of otosclerosis, age of onset, medical history and information on associated risk factors for 657 patients. Pre and post-surgical pure-tone audiometry was collected for 154 of these patients. Results The age of onset, incidence of bilateral disease, tinnitus and vertigo, a higher prevalence of women (65%) than men (35%) are similar to those reported previously for otosclerosis cohorts. No association with measles infection was detected. Patients with a family history (40%) have an earlier age of onset and a higher incidence of bilateral disease and vertigo than non-familial subjects. Pedigree analysis is consistent with an autosomal dominant inheritance with reduced penetrance being apparent in 44/91 pedigrees studied. Women who associate their hearing loss with pregnancy have an earlier age of onset than those that do not (p=6x10-6). Conclusions This study confirms that otosclerosis is an early adult onset disease that is more prevalent in women than men with a large minority of patients having a family history of otosclerosis. We report new evidence to support a relationship between pregnancy and otosclerosis progression in a proportion of women. In addition, this is the first study to identify differences in severity between familial and non-familial cases of otosclerosis, highlighting the possibility that more than one aetiology may be involved.
Taste change is a well documented but under emphasised complication of middle ear surgery and is usually related to damage to the chorda tympani nerve (CTN). However, the taste outcomes following cochlear implantation have not been previously recorded. One hundred and forty one patients who had received cochlear implants between January 1997 and April 2006 were questioned using a postal survey regarding changes in the sense of taste following cochlear implantation. Sixty seven per cent of questionnaires were returned. Forty three patients (45%) experienced changes in taste following their surgery. Eighteen patients (19%) said that their symptoms had not resolved by the end of the follow up period (mean 51 months). CTN division produced taste change in 86%. Fifty per cent of patients who had CTN preservation developed taste change, presumably related to occult trauma to the nerve. The difference in the number of patients describing taste change in the two groups was statistically significant (p < 0.05). Resolution of symptoms took a mean of 20 weeks. For those patients in whom taste change was noted, resolution of symptoms was more likely if the CTN was divided rather than preserved although the difference was not statistically significant (p < 0.5). This may reflect neuronal injury during surgery which then fails to heal normally. These results are comparable to taste outcomes in patients undertaking middle ear surgery for non-inflammatory disease such as stapedectomy. The symptoms can be extremely troublesome and may not resolve with time. Careful consideration of the CTN intra-operatively is recommended and in the event of injury, the taste outcome may be better if the nerve is divided rather than left in situ but damaged. These findings have significant implications for patients as bilateral implantation becomes more commonplace.
SUMMARYEar injuries caused by cotton buds are commonly seen in ear, nose and throat (ENT) practice. We asked 1000 patients attending an ENT referral clinic whether they used cotton buds to clean the ear canal. Of the 325 who responded, 171 said they did. The frequency of use was no higher in those with ear complaints than in those with nose and other complaints. 15-20% of respondents disagreed with the statements that cotton buds can cause infections, wax impaction or perforations. On the evidence of this survey, manufacturers' warnings need to be fortified.
Otosclerosis is a common form of hearing loss which typically presents in young adults. The disease has a familial, monogenic form and a non-familial form with a more complex aetiology. A previous genome wide association study identified evidence that variants within RELN are associated with the condition. Other genes in which an association has been reported include BMP2, COL1A1, FGF2, PPP2R5B and TGFB1. However, follow up studies have often failed to replicate initial positive results. The aim of this study was to establish if an association exists between eight single nucleotide polymorphisms (SNPs) in these six previously implicated genes and otosclerosis in a British case–control cohort (n = 748). Evidence of an association between rs1800472 in TGFB1 and otosclerosis was found (p = 0.034), this association was strongest amongst non-familial cases (p = 0.011). No evidence of an association was detected with variants in COL1A1, FGF2, BMP2, and PPP2R5B. No association between variation in RELN and otosclerosis was observed in the whole cohort. However, a significant association (p = 0.0057) was detected between one RELN SNP (rs39399) and otosclerosis in familial patients. Additionally, we identify expression of one RELN transcript in 51 of 81 human stapes tested, clarifying previous conflicting data as to whether RELN is expressed in the affected tissue. Our findings strengthen the association of TGFB1 (rs1800472) with otosclerosis and support a relationship between RELN and familial otosclerosis only, which may explain previous variable replications.
Helicobacter pylori is an accepted cause of chronic active gastritis and has a major causative role in peptic ulceration. It is a gastric carcinogen. Its role in non-ulcer dyspepsia (NUD) is less clear; yet 50 per cent of patients with NUD are infected with H pylori. H pylori has been investigated in several other organ systems, but has not been investigated extensively in squamous cell carcinoma of the upper aerodigestive tract, a region which could be directly exposed to the bacterium by gastro-oesophageal re ux (GOR).In this study 61 patients with severe laryngeal dysplasia or frank carcinoma of the head and neck are striated by age, investigated for the presence of antibodies to H pylori and compared to age and sex matched controls.In the age group of 46-61 years, the presence of H pylori antibodies was marginally greater in the experimental (63.0 per cent) than the control group (40.7 per cent) (Pearson Chi square p.=.0.055, Fisher 2-sided exact test p.=.0.066). When combining this age group with the younger age group and thereby creating two roughly equal groups (n.=.31 and n.=.30) there was also a statistical trend towards increased positivity in the experimental group. These ndings are discussed in the light of other studies with gastrooesophageal re ux disease (GORD).
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