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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
MeSH Review


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Disease relevance of Stapes

  • Deafness with fixation of the stapes (DFN3) is the most frequent X-linked form of hearing impairment [1].
  • In contrast to most NOG mutations that have been reported in kindreds with SYM1 and SYNS1, the mutations observed in these families with stapes ankylosis without symphalangism are predicted to disrupt the cysteine-rich C-terminal domain [2].
  • No evidence of measles virus in stapes samples from patients with otosclerosis [3].
  • Otosclerosis with stapes fixation sometimes causes a lateral ossicular fixation due to degenerative disease and fibrosis [4].
  • A different type of stapes fixation has been encountered which the author has termed "post-inflammatory osteogenic stapes fixation." One thousand five hundred and two surgical procedures for chronic otitis media were reviewed with 112 rigid stapes fixations found of which 19 were classified as post-inflammatory osteogenic stapes fixation [5].

High impact information on Stapes

  • RESULTS: In normal ears, both the stapes crura and the continuity between the incus and stapes were seen in almost 100% of cases, whereas the actual incudostapedial joint was identified in 86% (86 observations) and 67% (67 observations) of cases in the axial and coronal planes, respectively [6].
  • X-linked mixed deafness with stapes fixation in a Mauritian kindred: linkage to Xq probe pDP34 [7].
  • The gene for X-linked progressive mixed deafness with perilymphatic gusher during stapes surgery (DFN3) is linked to PGK [8].
  • Using ENU-induced mutagenesis, we discovered a new dominant Tcfap2a mutant named Doarad ( Dor) that has a missense mutation in the PY motif of its transactivation domain, leading to a misshapen malleus, incus, and stapes without any other observable phenotype [9].
  • STUDY DESIGN/MATERIALS AND METHODS: Ablation of the formalin-fixed incus and stapes was performed using an ultrashort pulse laser (USPL) (0.4 mm beam diameter, pulse fluence of 2.0 J/cm2, and pulse repetition rate of 10 Hz) [10].

Chemical compound and disease context of Stapes

  • A pulsed holmium: YAG laser (lambda = 1980 nm) was used to perform 0.4 mm stapedotomy fenestrations in human stapes footplates from freshly dissected cadavers under simulated surgical conditions [11].

Biological context of Stapes


Anatomical context of Stapes

  • STUDY DESIGN/MATERIALS and METHODS: On an inner ear model, time-resolved pressure measurements and Schlieren optical flash photography were performed during the perforation of the stapes foot plate using an erbium laser at 2.79 microns [15].
  • The models chosen for study included a cadaver stapes, two metallic prosthetic stapes, and a formalin-fixed temporal bone [16].
  • Neonatal rabbits were unilaterally deafened at birth by surgical removal of the stapes, aspiration of the cochlear lymph, and kanamycin injection into the oval window [17].
  • A closed technique in one stage provided intact tympanic membrane in 97% of cases, but retraction pocket occurred in 25%; ABG was within 20 dB in 68% of ears if the stapes was intact and in 40% if crura were missing [18].
  • Histologic studies of the temporal bones of an infant with Klippel-Feil syndrome whom we studied showed severe anomalies in one ear consisting of microtia, aural atresia, maldeveloped ossicles, fixed stapes, hypoplastic facial nerve, short cochlea, and large diameter of the lateral semicircular canal [19].

Associations of Stapes with chemical compounds

  • Computed tomography is limited in demonstrating the stapes superstructure and horizontal portion of the facial canal due to the inability to obtain good coronal scans [20].
  • RESULTS: Perforation of the stapes foot plate can be performed with a few erbium laser pulses with high precision and a thermal damage zone of < 10 microns [15].
  • CONCLUSION: The experimental results presented indicate that the CO2 laser in cw and superpulse mode is the most suitable of the systems now clinically applied in stapes surgery [21].
  • These data were statistically compared with the results of the control patients in our titanium stapes piston database [22].
  • To eliminate the effects of manual crimping on stapedotomy outcomes, the self-crimping, shape memory alloy Nitinol stapes piston was investigated and hearing evaluated [22].

Gene context of Stapes

  • RESULTS: Stapes and EAC cultures predominantly expressed mRNA of ER alpha, while ER beta expression was predominant in SaOS-2 cells [23].
  • Pathologic stapes samples were obtained from 35 patients suffering from otosclerosis [3].
  • Any asymmetric progression of a sensorineural loss or shift in discrimination after stapes surgery, whether sudden or gradual, should provoke suspicion of a second pathologic process [24].
  • ABG within 20 dB was achieved in 57% of the ears if stapes was intact and in 52% if crura were missing [18].
  • NIHs are good prostheses when the stapes is intact, but they are inferior to the TORP when placed on the footplate [25].

Analytical, diagnostic and therapeutic context of Stapes

  • STUDY DESIGN: Prospective laboratory and clinical study to develop a Nitinol stapes prosthesis [26].
  • Human stapes crura obtained at the time of stapedectomy for clinical otosclerosis have been studied after removal of the mucosal and periosteal layers by treatment with hydrogen peroxide and ultrasonification [27].
  • High-resolution small endoscopes, coupled with Argon ion or diode lasers promise to improve stapes visualization, enhancing the ability to perform minimally invasive surgery on the stapes footplate [28].
  • In over 200 consecutive operations performed under local anesthesia with the CO2 laser, no patient became dizzy intraoperatively while the CO2 laser was applied to the stapes footplate or the oval window neomembrane, confirming the lack of significant caloric effect to the inner ear at these energy settings [29].
  • Helical CT findings in patients who have undergone stapes surgery for otosclerosis [30].


  1. Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4. de Kok, Y.J., van der Maarel, S.M., Bitner-Glindzicz, M., Huber, I., Monaco, A.P., Malcolm, S., Pembrey, M.E., Ropers, H.H., Cremers, F.P. Science (1995) [Pubmed]
  2. Autosomal dominant stapes ankylosis with broad thumbs and toes, hyperopia, and skeletal anomalies is caused by heterozygous nonsense and frameshift mutations in NOG, the gene encoding noggin. Brown, D.J., Kim, T.B., Petty, E.M., Downs, C.A., Martin, D.M., Strouse, P.J., Moroi, S.E., Milunsky, J.M., Lesperance, M.M. Am. J. Hum. Genet. (2002) [Pubmed]
  3. No evidence of measles virus in stapes samples from patients with otosclerosis. Grayeli, A.B., Palmer, P., Tran Ba Huy, P., Soudant, J., Sterkers, O., Lebon, P., Ferrary, E. J. Clin. Microbiol. (2000) [Pubmed]
  4. Primary malleus fixation: diagnosis and treatment. Moon, C.N., Hahn, M.J. Laryngoscope (1981) [Pubmed]
  5. Postinflammatory osteogenic fixation of the stapes. Shea, M.C. Laryngoscope (1977) [Pubmed]
  6. Normal and opacified middle ears: CT appearance of the stapes and incudostapedial joint. Lemmerling, M.M., Stambuk, H.E., Mancuso, A.A., Antonelli, P.J., Kubilis, P.S. Radiology. (1997) [Pubmed]
  7. X-linked mixed deafness with stapes fixation in a Mauritian kindred: linkage to Xq probe pDP34. Wallis, C., Ballo, R., Wallis, G., Beighton, P., Goldblatt, J. Genomics (1988) [Pubmed]
  8. The gene for X-linked progressive mixed deafness with perilymphatic gusher during stapes surgery (DFN3) is linked to PGK. Brunner, H.G., van Bennekom, A., Lambermon, E.M., Oei, T.L., Cremers, W.R., Wieringa, B., Ropers, H.H. Hum. Genet. (1988) [Pubmed]
  9. An ENU-induced mutation in AP-2alpha leads to middle ear and ocular defects in Doarad mice. Ahituv, N., Erven, A., Fuchs, H., Guy, K., Ashery-Padan, R., Williams, T., de Angelis, M.H., Avraham, K.B., Steel, K.P. Mamm. Genome (2004) [Pubmed]
  10. Ultrashort pulse laser ossicular ablation and stapedotomy in cadaveric bone. Armstrong, W.B., Neev, J.A., Da Silva, L.B., Rubenchik, A.M., Stuart, B.C. Lasers in surgery and medicine. (2002) [Pubmed]
  11. Infrared laser stapedotomy. Kautzky, M., Trödhan, A., Susani, M., Schenk, P. European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery. (1991) [Pubmed]
  12. Mutation of the POU-domain gene Brn4/Pou3f4 affects middle-ear sound conduction in the mouse. Samadi, D.S., Saunders, J.C., Crenshaw, E.B. Hear. Res. (2005) [Pubmed]
  13. Sudden sensorineural hearing loss with fracture of the stapes footplate following sneezing and parturition. Whitehead, E. Clinical otolaryngology and allied sciences. (1999) [Pubmed]
  14. Parathyroid hormone-parathyroid hormone-related peptide receptor expression and function in otosclerosis. Grayeli, A.B., Sterkers, O., Roulleau, P., Elbaz, P., Ferrary, E., Silve, C. Am. J. Physiol. (1999) [Pubmed]
  15. Temperature and pressure effects during erbium laser stapedotomy. Pratisto, H., Frenz, M., Ith, M., Romano, V., Felix, D., Grossenbacher, R., Altermatt, H.J., Weber, H.P. Lasers in surgery and medicine. (1996) [Pubmed]
  16. Clinical significance of partial volume averaging of the temporal bone. Chakeres, D.W. AJNR. American journal of neuroradiology. (1984) [Pubmed]
  17. Auditory cortical responses to neonatal deafening: pyramidal neuron spine loss without changes in growth or orientation. McMullen, N.T., Glaser, E.M. Experimental brain research. Experimentelle Hirnforschung. Expérimentation cérébrale. (1988) [Pubmed]
  18. Closed versus obliteration technique in cholesteatoma surgery. Charachon, R., Gratacap, B., Tixier, C. The American journal of otology. (1988) [Pubmed]
  19. Aural abnormalities in Klippel-Feil syndrome. Ohtani, I., Dubois, C.N. The American journal of otology. (1985) [Pubmed]
  20. Edge enhancement computed tomography scanning in inflammatory lesions of the middle ear. Hanafee, W.N., Mancuso, A., Winter, J., Jenkins, H., Bergstrom, L. Radiology. (1980) [Pubmed]
  21. Effects of continuous-wave laser systems on stapes footplate. Jovanovic, S., Schönfeld, U., Prapavat, V., Berghaus, A., Fischer, R., Scherer, H., Müller, G.J. Lasers in surgery and medicine. (1996) [Pubmed]
  22. Eliminating the limitations of manual crimping in stapes surgery? A preliminary trial with the shape memory Nitinol stapes piston. Rajan, G.P., Atlas, M.D., Subramaniam, K., Eikelboom, R.H. Laryngoscope (2005) [Pubmed]
  23. Effect of 17 beta-estradiol on diastrophic dysplasia sulfate transporter activity in otosclerotic bone cell cultures and SaOS-2 cells. Imauchi, Y., Lainé, P., Sterkers, O., Ferrary, E., Bozorg Grayeli, A. Acta Otolaryngol. (2004) [Pubmed]
  24. Otosclerosis masking coexistent acoustic neuroma. Clemis, J.D., Toriumi, D.M., Gavron, J.P. The American journal of otology. (1988) [Pubmed]
  25. A comparison of PORP, TORP, and incus homograft for ossicular reconstruction in chronic ear surgery. Silverstein, H., McDaniel, A.B., Lichtenstein, R. Laryngoscope (1986) [Pubmed]
  26. Shape-memory stapes prosthesis for otosclerosis surgery. Knox, G.W., Reitan, H. Laryngoscope (2005) [Pubmed]
  27. Human stapes crura: surface bone architecture: scanning electron microscopic findings. Graham, M.D., House, H.P. Laryngoscope (1976) [Pubmed]
  28. Laser-assisted endoscopic stapedectomy: a prospective study. Poe, D.S. Laryngoscope (2000) [Pubmed]
  29. CO2 laser for otosclerosis: safe energy parameters. Lesinski, S.G., Palmer, A. Laryngoscope (1989) [Pubmed]
  30. Helical CT findings in patients who have undergone stapes surgery for otosclerosis. Williams, M.T., Ayache, D., Elmaleh, M., Héran, F., Elbaz, P., Piekarski, J.D. AJR. American journal of roentgenology. (2000) [Pubmed]
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