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PubMed1982

HLA antigens and otosclerosis. A possible new genetic factor.

The pattern of HLA antigens was studied in 68 Greek patients with otosclerosis with and without a family history of otosclerosis and in the members of seven families in which the disease occurs, and was compared with that of 400 unrelated control subjects. Fifty-six specific HLA antiserum samples were used to determine 27 HLA-A and B antigens with the two-stage standard National Institutes of Health assay. The results were modified as follows: There was a highly significant increase of the antigens HLA-A11, Bw35, and B14 only in the patients with family history. These findings, together with the observations from the family studies and the information of population epidemiology and HL distribution frequencies, indicate the possible role of HLA antigens in otosclerosis and corroborate the view that genetic factors are also involved.

Adolescent↗

PubMed1978

Oral contraceptive pills and clinical otosclerosis.

Clinical otosclerosis is a familial disease which is more frequent among women in their reproductive years. The condition usuallly is aggravated by pregnancy. Endocrinologic variables may influence the time of onset and the course of the disease. It is suspected that oral contraceptives (OCs) might stimulate the onset of the disease. Six hundred nulliparous women between the ages of 16 and 30, who used a variety of OCs for 12-36 months, were examined. The hearing of these women was thoroughly investigated. The first audiometric examination of the 600 women revealed three cases (0.5%) of clinical otosclerosis. This incidence is equal to that of the population as a whole, but lower than the incidence found in previously parous women. Audiometric examinations were normal in the remaining 597 women, and repeated examinations revealed no new cases of clinical otosclerosis, despite continuous OC use.

Adolescent↗

PubMed1997

Altered immunoregulations in otosclerosis: presence of autoantibodies in otosclerotic sera samples.

A current concept of the etiopathogenesis of otosclerosis is an immune response. The purpose of this study was to determine if autoantibodies were present in sera samples from patients with known otosclerosis. Organ non-specific total antinuclear antibodies (tANA) were determined in 98 sera samples by the immunofluorescent method in 47.9% of otosclerotic patients versus 5% in controls. The most frequent specific antinuclear antibody was antibody to native deoxyribonucleinic acid and antibody to ribonucleoprotein. Tissue-specific antibodies to native-collagen type II molecule (ACA II) were determined by counter-immunoelectrophoresis in the same sera samples and were detected in 54% versus none in healthy sera. There was no correlation between the presence of these two autoantibodies. In patients with tANA present, a statistically significant depletion of cochlear function was noted. The presence of ACA II showed no connection with hearing loss. The present study showed some alteration in immunoregulatory markers in otosclerotic patients and the possibility that ANA may play a role in the pathogenesis of otosclerosis-induced perceptive deafness.

Acoustic Impedance Tests↗

PubMed2004

[Realistic early and late results after otosclerosis surgery and presentation of a technique involving almost no complications].

Although the modern technique of otosclerosis surgery introduced by John Shea on 1st May 1956 has already been used throughout the world for almost fifty years it has not been possible to bring in line the differing opinions of surgeons concerning the optimum operation technique, the problems of the fenestration of the footplate, material and form of stapes replacement prosthetics and kind and place of their anchoring on the incus. Moreover, there is considerable disagreement among surgeons on a realistic evaluation of the findings of early and late results. During the last few decades otosclerosis surgery has become the hallmark of modern ear surgery and has been practiced in very highly specialized departments as well as in outpatient departments. The author, who has been very active in otosclerosis surgery since 1959-since 1979 with a modified personal technique-, wishes to prove that it is both meaningful and essential to modify the operation technique further, which is based on his own experiences and on more than 100 international publications. In this paper he presents his modified method, which has been tested on 1800 ears since 1979, as well as the results, achieved in this way.

Auditory Threshold↗

PubMed1996

Camurati-Engelmann disease presenting as 'juvenile otosclerosis'.

Camurati-Engelmann disease (CED, MIM # 131300) was diagnosed in a 27-year-old woman, who had pain in her lower legs. There was no history of hearing loss (or CED) in her family. She had been suffering from progressive hearing impairment since childhood. Serial audiograms demonstrated progressive mixed hearing loss from the age of 11 years onwards, for which she underwent successful stapes surgery bilaterally at the age of 13-18 years. Clinical ('juvenile') otosclerosis was found with stapes footplate fixation. Unfortunately, the sensorineural hearing loss component proved to be progressive bilaterally after surgery. At the age of 30 years, she experienced more rapid deterioration of her hearing loss in the right ear and episodes of vertigo. Vestibular examinations demonstrated progressive vestibular impairment 'otospongiotic' lesions with encroachment on the cochlear and vestibular labyrinth were found on high resolution CT scans at the age of 40 years; the internal auditory canal was normal bilaterally. CED may have formed a chance combination with juvenile otosclerosis in our patient, or otosclerosis may be part of the CED phenotype.

Adult↗

PubMedDate not supplied

Otosclerosis: etiopathogenesis and histopathology.

Otosclerosis is a disease of the bony labyrinth manifesting clinically as a progressive conductive hearing loss, a mixed-type hearing loss, or a sensorineural hearing loss. The age of onset of the hearing loss caused by otosclerosis is principally between 15 and 40 years. Although histopathological inner ear changes due to otosclerosis have been very well documented, the true etiopathogenesis of the disease has yet to be described despite intensive research. Both genetic and environmental factors have been implicated, however.

Age of Onset↗

PubMed2004

Correlation of CT analysis and audiometry in Japanese otosclerosis.

OBJECTIVE: To determine the extent of audiometric correlation with CT findings. METHODS: Forty-four patients (82 ears) with surgically confirmed otosclerosis underwent preoperative CT examination. Based on the computed tomography (CT) findings, the ears were classified into five groups as follows: Group A, the group with no pathological CT findings; Group B1, the group with demineralization localized in the region of the fissula antefenestram; Group B2, the group with demineralization extending towards the cochleariform process from the anterior region of the oval window; Group B3, the group with extensive demineralization surrounding the cochlea; and Group C, the group with thick anterior and posterior calcified plaques. RESULTS: There were 32 ears (39.0%) in Group A, 21 ears (25.6%) in Group B1, 16 ears (19.5%) in Group B2, 7 ears (8.5%) in Group B3, and 6 ears (7.3%) in Group C. The mean bone conduction levels were greater in the order of the extent of demineralization: Groups A, B1-B3 suggesting positive relationship between the cochlear function and the degree of labyrhinthine otosclerosis. CONCLUSION: A good correlation between the preoperative CT findings and audiometry findings suggests that CT with a slice intervals between 0.5 and 1mm could provide useful informations in assuming the extent of otosclerosis in the inner ear.

Adolescent↗

PubMed2006

Computed tomography in the diagnosis of otosclerosis.

OBJECTIVES: To identify the main tomographic findings of otosclerosis and to evaluate the usefulness of high-resolution computed tomography as a diagnostic method for this osteodystrophy. STUDY DESIGN AND SETTING: A prospective and multicenter study consisting of computed tomography (CT) of the temporal bone was conducted on 54 patients with a clinical and surgical diagnosis of otosclerosis. Twenty-two patients were included in the control group. RESULTS: The CT scan was positive in 87% of the patients. The tomographic findings were mainly bilateral and fenestral foci were more prevalent. CONCLUSIONS: CT showed a high rate of positivity, mainly for fenestral lesions. Foci anterior to the oval window were the most prevalent in this population. SIGNIFICANCE: CT is useful as a diagnostic method and therapeutic indicator of otosclerosis. EBM RATING: B-3b.

Adolescent↗

PubMed1984

Otosclerosis in a black child: diagnostic acoustic impedance studies.

Otosclerosis classically describes an osteodystrophic change in the bony labyrinth and stapes footplate, of autosomal dominant inheritance, reported rare under the age of 5, extremely "rare" in the Oriental and Black race, "non-existent" in the American Indian, and with a clinical incidence of 5 per 1000 Caucasians. The differential diagnosis of a non-effusion conductive hearing loss in a child should include otosclerosis, congenital malleus or footplate fixation, tympanosclerotic fixation, congenital cholesteatoma, lysis of the incus long process, Paget's disease, osteogenesis imperfecta, and fibromuscular hyperplasia of the renal artery. Presented is a case report of a 14-year-old black male with bilateral clinical otosclerosis and a persistent stapedial artery. Preoperative multiple-frequency tympanometry and Zwislocki acoustic reactance and resistance analysis demonstrated absence of the "W" resonance pattern on high-frequency tympanometry and the classic friction and stiffness patterns of otosclerotic fixation. Repeat multiple-frequency tympanometry testing post-stapedectomy demonstrated prosthesis articulation. Prosthesis position can be monitored postoperatively by these acoustic impedance studies.

Acoustic Impedance Tests↗

PubMedDate not supplied

Enchondral cartilage rests collagen-induced autoimmunity: a possible pathogenetic mechanism of otosclerosis.

Collagen autoimmunity has been suggested as one etiologic mechanism to otosclerosis. Although substantial studies relating this disease to collagen autoimmunity have been reported, a basic understanding of the pathogenic mechanism involved is lacking. Some otosclerosis patients have a high level of antibody to type II collagen. In addition, complement and antibody were deposited in the stapes from otosclerosis patients. Furthermore, the otic capsule and stapes have been found to contain type II collagen by immunohistologic studies and biochemical analysis. Otospongiosis-like lesions have also been produced in rats by immunizing them with type II collagen. This finding led us to postulate a hypothesis of an autoimmunity to type II collagen as an etiopathogenesis of this illness. Our initial hypothesis has been updated to incorporate new findings in the field of cell biology. The role of interleukin 1, osteoclasts, osteoblasts, bone resorption, and other factors such as minor collagens, calcitonin, vitamin D, parathyroid hormone, collagenase, and prostaglandins are incorporated in this updated hypothesis.

Animals↗

PubMedDate not supplied

Genetic correlation in otosclerosis.

PURPOSE: The aim of this study was to determine the relationship of HLA typing in patients with otosclerosis. MATERIALS AND METHODS: We used a prospective study in which HLA typing of 100 surgically confirmed otosclerosis patients were compared with age and sex matched normal individuals. RESULTS: HLA-A3, HLA-A9, HLA-A11, and HLA-B13 were found to be significantly higher (P < .05, .01, and .01, respectively). HLA-A9 and HLA-A11 were found to be higher (P < .01) in patients with a positive family history, indicating genetic heterogenicity. CONCLUSIONS: Higher values of HLA-A9, HLA-11, and HLA-B13 in patients with otosclerosis compared with normal individuals strongly suggests a genetic, HLA-related component.

Adolescent↗

PubMed2004

Otosclerosis is a conformational disease.

The otosclerotic focus is a result of the normal process of bone remodelling in the otic capsule - a place where there is little if any bone remodelling. There is still no single accepted theory for the pathogenesis of otosclerosis. Sources we used were relevant clinical and basic science publications from 1973 to 2001. The data from each publication were critically reviewed. In this paper we suggest a kind of molecular predisposition in otosclerosis, like molecular instability in some key protein with regulatory effect, cell receptor for example. Also it can be a destabilasing mutation of some repressor of the normal bone remodelling. Any triggering event like mechanic distress, vascular compromise, radiation, viral infection, etc. can start a process of conformational changes with subsequent induction of long-standing bone remodelling focuses. We conclude that many unusual features of otosclerosis can be explained if we consider this entity as a conformational disease.

Adaptation, Physiological↗

PubMed2003

KTP laser fine fenestra stapedotomy with vein graft interposition in the surgical management of otosclerosis.

Otosclerosis is an hereditary disease of bone derived from the embryonic otic capsule. The exact aetiopathogenesis remains unclear. It can be associated with significant disability due to hearing impairment. Medical and surgical treatments, with varying degrees of effectiveness and complication rates, are available. The surgical method for the correction of the conductive hearing loss associated with otosclerosis continues to undergo technical refinement with the aim of improving results and minimising complications. The surgical technique of fine fenestra stapedotomy is well established. Here, we describe a new modification of this technique involving the use of a KTP laser. Based on the retrospective review of the results and complication rates of over 200 consecutive cases, we would like to recommend the technique of KTP laser fine fenestra stapedotomy in the surgical management of otosclerosis.

Humans↗

PubMed1979

Bone mineral content in osteogenesis imperfecta tarda and in otosclerosis.

In 22 patients with osteogenesis imperfecta and in 63 patients with otosclerosis the bone mineral content in peripheral bones was determined by photon absorptiometry. The bone mineral content proved significantly reduced in patients with osteogenesis imperfecta as compared with normals and with patients with otosclerosis. In the latter patients the bone mineral content was normal. These findings support the assumption that stapedial fixation in otosclerosis and in osteogenesis imperfecta is of different aetiology.

Adolescent↗

PubMed1991

Obliterative otosclerosis.

An analysis of 420 consecutive cases of obliterative otosclerosis seen in the Christian Medical College Hospital, Vellore is presented. The proportion of truly obliterative otosclerosis is 33.09 per cent (139 ears). Our male to female ratio in truly obliterative otosclerosis is 1.48:1, while in the non-obliterative group it is 1.34:1. The mean age at onset in the obliterative group was 19.14 while in the non-obliterative group it was 25.60. This is statistically significant (P less than 0.001). The age at presentation was 25.90 in the obliterative group while in non-obliterative group it was 30.86; this is also statistically significant (P less than 0.001). However the time interval between the age at onset and the age at presentation is not statistically significant.

Adolescent↗

PubMed1993

Clinical otosclerosis and auditory exostoses in ancient Europeans (investigation of Lithuanian paleoosteological samples).

The purpose of this investigation was to establish the incidence of clinical otosclerosis and auditory exostoses in Lithuanian paleopopulations. The total sample consists of 4080 skulls, dating from the Neolithic to the C17th-C18th A.D., investigated visually, under magnification and radiologically. Eight cases of clinical otosclerosis and 22 of auditory exostoses were identified. The general epidemiology of otosclerosis (0.19 +/- 0.08 per cent) was established to be similar to contemporary populations. This suggests that there are no new aetiological factors attributable to our modern society. Clear diminution of the incidence of auditory exostoses from the 1st to the 2nd millenium A.D. (3.46 +/- 0.76 per cent, against 0.06 +/- 0.04 per cent, p < 0.001) and definite sexual differences (males: 1.21 +/- 0.28 per cent; females: 0.17 +/- 0.10 per cent, p < 0.001) were also noted. In general, auditory exostoses were found much more frequently than in recent populations.

Ear Diseases↗

PubMed1997

Effect of drinking water fluoridation on the prevalence of otosclerosis.

The effect of drinking water fluoridation on the prevalence of clinical otosclerosis was investigated in an area where the natural waters have a very low fluoride content. The methods included a retrospective chart review and a residential history questionnaire. Only subjects born between 1948 and 1962 were included. In this age group, the prevalence of clinical otosclerosis was found to be 0.35 per cent of persons exposed to fluoridated tap water and 0.32 per cent of those consuming fluoride-poor water. It seems that a sodium fluoride intake of 1 to 3 mg daily cannot prevent the development of clinical otosclerosis in a low-fluoride area.

Adolescent↗

PubMed1997

Genetics of otosclerosis.

Otosclerosis is an early-middle adult life genetic disease affecting bone remodelling in the ear. Current knowledge of otosclerosis as an inherited disease dates to the mid-19th century, and we report here an attempt to understand the genetics of otosclerosis and detect its heterogeneity. The analysis was conducted on 151 otosclerotic families. The results of our study indicate that while heredity plays an important role in the manifestation of the disease a substantial portion of otosclerotic cases could arise due to non-genetic causes.

Adolescent↗