Antonios Skevas

Prevalence of GJB2 mutations in prelingual deafness in the Greek population

OBJECTIVE Mutations in the gene encoding the gap junction protein connexin 26 (GJB2) have been shown as a major contributor to prelingual, sensorineural, nonsyndromic, recessive deafness. One specific mutation, 35delG, has accounted for the majority of the mutations detected in the GJB2 gene in Caucasian populations. The aim of our study was to determine the prevalence and spectrum of GJB2 mutations in prelingual deafness in the Greek population. METHODS In a collaboration with the major referral centers for childhood deafness in Greece, patients were examined by an extensive questionnaire to exclude syndromic forms and environmental causes of deafness and by allele-specific polymerase chain reaction (PCR) for the detection of the 35delG mutation. Patients heterozygous for the 35delG mutation were further analyzed by direct genomic sequencing of the coding region of the GJB2 gene. RESULTS The 35delG mutation was found in 42.2% of the chromosomes in 45 familial cases of prelingual, nonsyndromic deafness (18 homozygotes and 2 heterozygotes) and in 30.6% of the chromosomes in 165 sporadic cases (45 homozygotes and 11 heterozygotes). Direct genomic sequencing in heterozygous patients revealed the L90P (2 alleles), W24X (2 alleles), R184P (2 alleles), and 291insA (1 allele) mutations. CONCLUSION Mutations in the GJB2 gene are responsible for about one third of prelingual, sensorineural, nonsyndromic deafness in the Greek population, and allele-specific PCR is an easy screening method for the common 35delG mutation.

Inner ear involvement in rheumatoid arthritis : a prospective clinical study

Sensorineural hearing loss in rheumatoid arthritis (RA) has been reported to be the result of the extra-articular manifestation of the disease (rheumatoid nodular vasculitis) or due to drug ototoxicity. In an attempt to investigate the presence of sensorineural hearing loss and the possible causes for it we investigated prospectively 45 RA patients (42 female; three male) with a mean age of 52.5 +/- 10.7 years and a mean disease duration of 8.5 +/- 7.3 years. All patients underwent a complete physical examination and audiological evaluation which included pure tone audiometry and impedance audiometry (tympanogram, static compliance, acoustic reflex, reflex decay, acoustic reflex latency test. We found a sensorineural hearing loss > 20 dB HL in 44.4 per cent (40/90) ears. In all cases the site of hearing loss was the cochlea and in most of them it was bilateral and symmetric (16 patients out of 45 had bilateral sensorineural hearing loss i.e. 35.5 per cent. There was no correlation between sensorineural hearing loss and age, sex, disease duration, articular and extra-articular manifestations and the presence of autoantibodies in our patients. In addition, no correlation was found between sensorineural hearing loss and drug therapy for one at least of the following drugs: NSAIDs, D-penicillamine, plaquenil and methotrexate. We noticed a prologation of acoustic reflex latency in five patients (10 per cent) which was found to be correlated with the temporomandibular joint involvement and the presence of rheumatoid factor (RF). We conclude that inner ear involvement in RA is expressed by: (1) mild symmetric, bilateral sensorineural hearing loss of cochlear type in 35.5 per cent of patients; (2) normal acoustic reflex thresholds; (3) nondecay; and (4) prologation of acoustic reflex latency which appeared in a small number of patients (10 per cent).

Ear involvement in systemic lupus erythematosus patients: a comparative study

Ear damage in systemic lupus erythematosus (SLE) patients has been occasionally reported but the frequency and the mechanisms of ear involvement are not well documented. In an attempt to investigate the presence of hearing loss and the possible causes for it we prospectively evaluated 43 SLE patients. All patients underwent a complete ear-nose-throat physical examination and audiological evaluation with pure tone, impedance and speech audiometry. In addition, systemic manifestations of the disease and drug therapy were recorded. Finally, all patients were tested for the presence of autoantibodies. The results were compared with those of 50 age-matched healthy subjects. Hearing loss (HL) was found in nine patients (22.5 per cent). More specifically, eight patients presented sensorineural hearing loss (SNHL) (21.5 per cent) and only one had conductive hearing loss (CHL) (2.63 per cent). From the patients with SNHL, one had bilateral symmetrical damage, four had bilateral but no symmetrical damage and three patients showed unilateral SNHL. Finally, the patient with CHL had unilateral involvement. There were no statistically significant differences between patients with HL and those without regarding age, disease duration, clinical disease manifestations, autoantibody profile and drug therapy. In conclusion, one fourth of our SLE patients presented HL, expressed as SNHL affecting mainly the middle and high frequencies, while only one patient had CHL. This is a lower percentage of ear involvement in SLE than that reported by other investigators. The mechanism of ear damage remains unknown. Thus, additional prospective studies are needed to elucidate its pathogenesis.

A comparative study of age and degree of facial nerve recovery in patients with Bell's palsy.

Abstract The purpose of this study was to investigate if there is any relationship between the age of a patient and the degree of facial nerve recovery in patients with Bell’s palsy. Between 1987 and 1995 250 patients with peripheral idiopathic facial nerve palsy were examined at the ENT Clinic of the University of Ioannina. In this group 134 were male and 116 were female. The patients’ ages ranged from 4 to 80 years and had an average of 47.7 years. The average age of the male patients was 46.5 years and that of the female patients was 49.1 years. In the overall group of 250 patients 129 presented with a paralysis of the right facial nerve and 121 on the left. There was no case of bilateral palsies. When comparing the age of the patients and the degree of recovery, measuring age was associated with a decrease in complete recovery. While the percentage of complete recovery between age 4 and 50 years varied from 83% to 74%, respectively, the percentage of complete recovery decreased to less than 54% at age 80. Our results show that the age of the patient is a very important factor for facial nerve recovery.

Hearing loss in progressive systemic sclerosis patients: A comparative study

OBJECTIVE: To investigate the middle and inner ear involvement in patients with progressive systemic sclerosis (PSS). STUDY DESIGN AND SETTINGS: We prospectively evaluated 34 PSS patients. All patients underwent a complete ear-nose-throat physical examination and audiological evaluation with pure tone, impedance, and speech audiometry. In addition, systemic manifestations of the disease and drug therapy were recorded. Finally, all patients were tested for the presence of autoantibodies. The results were compared with those of 45 age-matched healthy subjects. RESULTS: We found a sensorineural hearing loss in 20% and mixed type hearing loss in 3.3% of the patients. There was no correlation of hearing loss with age, systemic manifestations of the disease, presence of autoantibodies, and drug therapy. Ten percent of the patients had patulous eustachian tubes. CONCLUSION: One fourth of PSS patients had a hearing loss affecting the middle and mainly the high frequencies. This is a lower percentage than that reported by other investigators. A significant prevalence of bilateral patulous eustachian tubes was noticed as well. Further investigation is needed for a better understanding of the mechanism of ear damage in PSS patients.

Effect of meteorological parameters on acute laryngitis in adults.

The aim of this study was to investigate the influence of weather conditions on the frequency of acute laryngitis in adults. The medical records of 825 patients with a diagnosis of acute laryngitis obtained over a 5-year period were reviewed. Meteorological data reviewed included the daily values of 13 parameters. The monthly distribution of the disease was assessed. In addition, a detailed 2-part statistical analysis was performed as follows: ( i ) the relationship between each meteorological parameter and the frequency of the disease was investigated, using contingency tables; and ( ii ) the 1825-day period was divided into 8 groups characterized by similar weather, using factor and cluster analysis, and the disease frequency in each group was assessed. Our observations were as follows: 1. Meteorological parameters, such as low temperature, low diurnal temperature range, low atmospheric pressure and low mean water vapor pressure, were associated with an increased occurrence of acute laryngitis. 2. Significant changes in maximum temperature or a significant drop in atmospheric pressure, as compared to the previous days conditions, favored new cases of the disease. 3. The cold period of the year was associated with an almost two-fold increase in the frequency of disease cases, which peaked in March and reaching a minimum during August. 4. The peak frequency of cases was associated with winter weather conditions, which were characterized by high humidity readings. In conclusion, meteorological parameters, and their variation and covariation, are strongly associated with acute laryngitis in adults.

Seasonal Distribution and Epidemiology of Bell’s Palsy

Objectives: The purpose of this study was to investigate the seasonal and epidemic distribution of the disease in the environment of Ioannina prefecture, with a population of 158,000 and a climate of a transitive zone between Mediterranean and continental. Patients: This retrospective study included 125 patients suffering from idiopathic peripheral facial paralysis, treated from 1995 until 1999. The male:female ratio was 62:63. The age of the patients ranged from 7 to 84 years, with a mean age of 50.4 ± 21.8. The annual incidence of the disease was 15.8 per 100,000 population during the 5 years. Results: Correlation between the disease frequency and the age of the patients revealed an increased frequency in patients over 40 years (67.2%) and peak morbidity during the 7th decade (36%). There was no significant difference in the number of cases occurring during the cold – warm half of the year, the four seasons, and in the monthly distribution. By calculating the mean intervals in days between successive cases per month and per season, we observed no significant differences. Conclusions: Our study did not provide any statistically significant results that could indicate seasonal or epidemic distribution of Bell’s palsy.

Weather conditions and Bell's palsy: five-year study and review of the literature

BackgroundClimatic or meteorological condition changes have been implicated in the pathogenesis of Bells palsy (BP). We evaluate the influence of meteorological parameters, such as temperature, humidity, and atmospheric pressure, and their variation and covariation on the incidence of BP and present a review of the literature on the effect of meteorological conditions on facial nerve function.MethodsA total of 171 cases of BP admitted to our Department over a five-year period were studied. The meteorological database included daily values of 13 distinct parameters recorded at the meteorological station of the University of Ioannina during this period. A relationship between each meteorological variable and the incidence of BP was investigated by applying (Χ2) test on data from 13 contingency tables. In addition, the influence of different weather types on the incidence of BP was also investigated. For this purpose Cluster Analysis was used to create eight clusters (weather types) for the Ioannina prefecture and (Χ2) test was applied on the contingency tables consisting of the days of BP cases for each cluster.ResultsNo significant correlation was found either between BP and each distinct meteorological parameter or between BP and any specific weather.ConclusionsMeteorological conditions, such as those dominating in the Northwestern Greece, and/or their changes have little effect on the incidence of BP. Multicenter studies taking into account atmospheric pollution, and climatic differences between countries, are necessary to scrutinize the environmental effects on facial nerve function.

A comparison of electroneuronography with facial nerve latency testing for prognostic accuracy in patients with Bell's palsy

The purpose of this study was to evaluate the ability of electroneuronography (ENOG), also called evoked electromyography (EEMG), and facial nerve latency testing (FNLT) to assess the prognosis of facial nerve palsy, using the House-Brackmann facial nerve grading system as criterion. From 1988 to 1994 these tests were employed at the ORL Clinic of the University of Ioannina in 250 patients with idiopathic facial nerve palsy. The ENOG test results indicated that when the amplitude of the compound muscle action potentials ranged from 51% to 95% of the normal value, 97% of the patients achieved complete functional recovery (grade 1) within at least 2 months. When the muscle action potential decreased to a value below 51% of normal values, prognosis for recovery was considerably worse. FNLT test results indicated that as the latency time extended, the recovery grade of the facial nerve worsened. When latency time was within the normal range (group A patients), about 92% of patients had complete functional recovery. In contrast all patients having either a very extended latency time or unable to be monitored (groups C and D) demonstrated incomplete functional recoveries that ranged from grade 11 to grade VI. Comparing each test with the House-Brackmann facial nerve grading system, we ascertained that the percent accuracy for ENOG was 97.6%, and that for FNLT was 94.4%.

Weather conditions and sudden sensorineural hearing loss

BackgroundClimatic or meteorological condition changes have been implicated in the pathogenesis of Idiopathic Sudden Sensorineural Hearing Loss (ISSHL). We investigated the seasonal distribution of ISSHL and evaluated the influence of meteorological parameters (such as temperature, humidity, and atmospheric pressure), their variation and covariation on the incidence of the disease.MethodsA total of 82 cases of ISSHL, admitted to our department over a five-year period, were enrolled in the study. Seasonal distribution of the disease was investigated by dividing the year in four seasons. Meteorological data included daily values of 13 distinct parameters recorded at the meteorological station of the University of Ioannina during this period. A relationship between each meteorological variable and the incidence of ISSHL was investigated by applying (χ2) test on data from 13 contingency tables as well as by using logistic regression and t-test approaches. In addition, the influence of different weather types on the incidence of ISSHL was investigated using Cluster Analysis in order to create eight clusters (weather types) characteristic for the prefecture of Ioannina.ResultsThe results of the study could not indicate any seasonal distribution of the disease. The incidence of ISSHL could not be significantly correlated either to any distinct meteorological parameter or to any specific weather type.ConclusionsMeteorological conditions, such as those dominating in the Northwestern Greece, and/or their changes, have no proven effect on the incidence of ISSHL.