Parathyroid hormone-parathyroid hormone-related peptide receptor expression and function in otosclerosis.
(1/56)
The aim of this study was to investigate the possibility that an abnormality related to parathyroid hormone (PTH) action is involved in the increased bone turnover observed in otosclerosis. To do so, expression and function of the PTH-PTH-related peptide (PTHrP) receptor were studied in the involved tissue (stapes) and compared with that in control bone sample obtained from the external auditory canal (EAC) in the same patient in 10 cases of otosclerosis and in 1 case of osteogenesis imperfecta. PTH-PTHrP receptor expression was studied by RT-PCR of RNA prepared from cultured cells in three patients and RNA directly extracted from bone samples in four patients. PTH-PTHrP receptor function was assessed by measuring the stimulation of cAMP production by 0.8, 8, and 80 nM PTH in bone cell cultures in seven cases. Results showed that PTH-PTHrP receptor mRNA expression in the otosclerotic stapes was lower than that in EAC samples (P < 0.05), whereas it was higher in stapes than that in EAC in the case of osteogenesis imperfecta. cAMP production after PTH stimulation was lower in bone cells cultured from otosclerotic stapes compared with that in cells cultured from EAC (range of increase in stimulation: 0.8-4.5 and 1.5-7 in stapes and EAC bone cells, respectively, P < 0.05). In contrast, the stimulation of cAMP production by forskolin was not significantly different in otosclerotic stapes and EAC bone cells (range of increase in stimulation: 20.7-83.1 and 4.9-99.8 in stapes and EAC, respectively, P > 0.05). These results show a lower stimulation of cAMP production in response to PTH associated with a lower PTH-PTHrP receptor mRNA expression in pathological stapes from patients with otosclerosis compared with that in control EAC samples. This difference supports the hypothesis that an abnormal cellular response to PTH contributes to the abnormal bone turnover in otosclerosis. (+info)
No evidence of measles virus in stapes samples from patients with otosclerosis.
(2/56)
Otosclerosis is a localized bone dystrophy of unknown etiology mainly involving the stapes. The hypothesis of a persistent infection by the measles virus was based on the inconstant detection of the virus by various methods, including reverse transcription-PCR (RT-PCR) of patients' stapes samples. The aim of this work was to investigate the presence of the measles virus in stapedial otosclerosis foci by different sensitive methods. Pathologic stapes samples were obtained from 35 patients suffering from otosclerosis. Measles virus detection was performed by (i) cocultures of Vero cells and primary cell cultures of bone samples (n = 7), (ii) immunofluorescence study of these cocultures (n = 3), and (iii) RT-PCR on RNA directly obtained from fresh frozen samples (n = 28) and on RNA extracted from the primary cell cultures (n = 2). Viral genomic regions coding for N (nucleoprotein) and M (matrix) proteins were separately amplified. PCR sensitivity was optimized on the measles virus Edmonston strain. Glyceraldehyde-3-phosphate dehydrogenase mRNA was used as a marker of total RNA recovery. PCR products were tested by Southern blot hybridization technique to improve sensitivity and specificity. PCRs amplifying the M and the N protein genes were able to detect the control measles virus RNA at titers as low as 0.1 and 0.01 50% tissue culture infective dose, respectively. With these highly sensitive methods, we could not evidence the presence of the measles virus in any of our bone samples or primary bone cell cultures. Our results do not confirm the hypothesis of persistent measles virus infection in otosclerosis. (+info)
Fenestration surgery for otosclerosis: CT findings of an old surgical procedure.
(3/56)
Numerous attempts to deal surgically with otosclerosis were made before the current method of stapedectomy with stapes prosthesis was established. We report a case with unique CT findings of a patient who underwent fenestration surgery for otosclerosis in the early 1940s. Recognition of this old surgical procedure on the imaging scans may avoid misdiagnosis of labyrinthine fistulae or middle and inner ear malformations. (+info)
A second gene for otosclerosis, OTSC2, maps to chromosome 7q34-36.
(4/56)
Otosclerosis due to abnormal bone homeostasis of the otic capsule is a frequent cause of hearing loss in adults. Usually, the hearing loss is conductive, resulting from fixation of the stapedial footplate, which prevents normal ossicular vibration in response to sound. An additional type of sensorineural hearing loss may be caused by otosclerotic damage to the cochlea. The etiology of the disease is unknown, and both environmental and genetic factors have been implicated. Autosomal dominant inheritance with reduced penetrance has been proposed, but large families are extremely rare. To elucidate the pathogenesis of the disease, identification of the responsible genes is essential. In this study, we completed linkage analysis in a Belgian family in which otosclerosis segregates as an autosomal dominant disease. After excluding linkage to a known locus on chromosome 15 (OTSC1), we found linkage on chromosome 7q, with a multipoint LOD score of 3.54. Analysis of key recombinant individuals maps this otosclerosis locus (OTSC2) to a 16-cM interval on chromosome 7q34-36 between markers D7S495 and D7S2426. (+info)
Postoperative complications in otospongiosis: usefulness of MR imaging.
(5/56)
BACKGROUND AND PURPOSE: Sensorineural hearing loss (SNHL) is a rare complication of stapes surgery that may arise for many reasons. Usually, the pathogenesis of SNHL can be established by clinical and CT examinations. The purpose of this study was to evaluate the utility of MR imaging when CT findings are normal or not contributive. METHODS: Eleven patients with SNHL (in some instances, associated with vertigo) after stapedectomy, in whom CT showed no well-defined cause, were examined by MR imaging. RESULTS: MR studies established the additional findings of reparative intravestibular granuloma (n = 2), intralabyrinthine hemorrhage (n = 1), and bacterial labyrinthitis (n = 1). In five cases, MR findings were similar to CT findings. In two cases, CT and MR results were normal. Revision surgery was performed in five patients and confirmed the MR findings in each case. CONCLUSION: If CT is not contributive as to the origin of SNHL and vertigo occurring after stapes surgery, then MR imaging may be helpful in these patients. (+info)
Linkage of otosclerosis to a third locus (OTSC3) on human chromosome 6p21.3-22.3.
(6/56)
Clinical otosclerosis (OMIM 166800/605727) has a prevalence of 0.2-1% among white adults, making it the single most common cause of hearing impairment in this group. It is caused by abnormal bone homeostasis of the otic capsule with the consequent development of sclerotic foci that invade the stapedio-vestibular joint (oval window) interfering with free motion of the stapes. Impaired ossicular chain mobility results in a conductive hearing loss. We identified the first locus for otosclerosis (OTSC1) on chromosome 15 in 1998 and reported a second locus (OTSC2) on chromosome 7 last year. Here we present results of a genome wide linkage study on a large Cypriot family segregating otosclerosis. Results of this study exclude linkage to OTSC1 and OTSC2 and identify a third locus, OTSC3, on chromosome 6p. The defined OTSC3 interval covers the HLA region, consistent with reported associations between HLA-A/HLA-B antigens and otosclerosis. (+info)
Stapes mobilization for otosclerotic deafness; the monitored peribasal technique.
(7/56)
Direct surgical operation on the stapes footplate region in the treatment of hearing loss due to otosclerosis has been revived. In the last 100 cases of a total series of 600, the peribasal stapes mobilization (stapedolysis) technique was completely successful in 62 per cent, partially successful in 29 per cent and a failure in 9 per cent. Stapes mobilization requires precise microsurgical technique monitored by audiometry during the surgical procedure. It appears that mobilization is the preferred approach to the surgical treatment of otosclerosis, but fenestration of the vestibular labyrinth is an important secondary procedure in some cases. Successful restoration of hearing requires adequate mobility of the footplate coupled with physiological continuity of the drum ossicular chain mechanism. (+info)
DEAFNESS.
(8/56)
Dr T E T Weston describes his research into the effect of noise on hearing acuity and of deafness in the aged. He found that presbyacusis is associated with a multiplicity of factors, e.g. smoking, circulatory disturbance, urban domicile, heredity and occupational acoustic trauma.Miss W Galbraith describes the social implications of various degrees of deafness and the ways in which they can be overcome by such measures as lipreading, hearing aids and rehabilitation.Sir Terence Cawthorne discusses otosclerosis, nearly 1% of the population being affected by this type of deafness. He describes the modern operation of insertion of an artificial piston through the stapes and states that 90% of cases submitted to this operation will show immediate improvement, whilst 85% should still have retained this improvement at the end of two years. (+info)