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74 results on '"Topsakal, Vedat"'

1. Quality of life, hearing results, patient satisfaction and postoperative complications of day-case versus inpatient unilateral cochlear implantation in adults: a randomized controlled, equivalence trial

Author

Zorgeenheid KNO Medisch, MS KNO, Brain, Other research (not in main researchprogram), Bijzondere Formatie, MS Hoofd-Hals Chirurgische Oncologie, Derks, Laura S.M., Smit, Adriana L., Thomeer, Hans G.X.M., Topsakal, Vedat, Grolman, Wilko, Stokroos, Robert J., Wegner, Inge, Zorgeenheid KNO Medisch, MS KNO, Brain, Other research (not in main researchprogram), Bijzondere Formatie, MS Hoofd-Hals Chirurgische Oncologie, Derks, Laura S.M., Smit, Adriana L., Thomeer, Hans G.X.M., Topsakal, Vedat, Grolman, Wilko, Stokroos, Robert J., and Wegner, Inge

Published
2024

2. Ability to Drive in Patients with Dizziness: The Belgian Perspective

Author

UCL - (SLuc) Service d'oto-rhino-laryngologie, UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - (SLuc) Centre labio-palatin Albert de Coninck, Van Rompaey, Vincent, Somers, Thomas, Deggouj, Naima, de Varebeke, Sebastien Janssens, Lefebvre, Philippe, Topsakal, Vedat, UCL - (SLuc) Service d'oto-rhino-laryngologie, UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - (SLuc) Centre labio-palatin Albert de Coninck, Van Rompaey, Vincent, Somers, Thomas, Deggouj, Naima, de Varebeke, Sebastien Janssens, Lefebvre, Philippe, and Topsakal, Vedat

Abstract

Dizziness is one of the most frequent complaints of patients and up to 20% consult physicians for it every year. Patients can suffer from dif- ferent types of symptoms, including spontaneous vertigo spells, head-movement-induced vertigo spells and chronic dizziness. All of these symptoms are highly relevant while driving and may put the patient and their surroundings in significant danger. This paper highlights the impact of aspects relevant to the dizzy patient on driving ability (incl. the impact of medication and surgery).

Published
2022

3. Evaluation of Artificial Fixation of the Incus and Malleus With Minimally Invasive Intraoperative Laser Vibrometry (MIVIB) in a Temporal Bone Model

Author

Gladine, Kilian, Wales, Jeremy, Silvola, Juha, Muyshondt, Pieter G. G., Topsakal, Vedat, De Heyning, Paul Van, Dirckx, Joris J. J., von Unge, Magnus, Gladine, Kilian, Wales, Jeremy, Silvola, Juha, Muyshondt, Pieter G. G., Topsakal, Vedat, De Heyning, Paul Van, Dirckx, Joris J. J., and von Unge, Magnus

Abstract

Background: A significant number of adults suffer from conductive hearing loss due to chronic otitis media, otosclerosis, or other pathologies. An objective measurement of ossicular mobility is needed to avoid unnecessarily invasive middle ear surgery and to improve hearing outcomes. Methods: Minimally invasive intraoperative laser vibrometry provides a method that is compatible with middle ear surgery, where the tympanic membrane is elevated. The ossicles were driven by a floating mass transducer and their mobility was measured using a laser Doppler vibrometer. Utilising this method, we assessed both the absolute velocities of the umbo and incus long process as well as the incus-to-umbo velocity ratio during artificial fixation of the incus alone or incus and malleus together. Results: The reduction of absolute velocities was 8 dB greater at the umbo and 17 dB at the incus long process for incus-malleus fixations when compared with incus fixation alone. Incus fixation alone resulted in no change to the incus-to-umbo velocity ratio where incus-malleus fixations reduced this ratio (-11 dB). The change in incus velocity was shown to be the most suitable parameter to distinguish between incus fixation and incus-malleus fixation. When the whole frequency range was analyzed, one could also differentiate these two fixations from previously published stapes fixation, where the higher frequencies were less affected. Conclusion: Minimally invasive intraoperative laser vibrometry provides a promising objective analysis of ossicular mobility that would be useful intraoperatively.

Published
2020
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8. Stable benefits of bilateral over unilateral cochlear implantation after two years : A randomized controlled trial

Author

van Zon, Alice, Smulders, Yvette E, Stegeman, Inge, Ramakers, Geerte G J, Kraaijenga, Veronique J C, Koenraads, Simone P C, van Zanten, Gijsbert A, Rinia, Albert B, Stokroos, Robert J, Free, Rolien H, Frijns, Johan H M, Huinck, Wendy J, Mylanus, Emmanuel A M, Tange, Rinze A, Smit, Adriana L, Thomeer, Hans G X M, Topsakal, Vedat, Grolman, Wilko, van Zon, Alice, Smulders, Yvette E, Stegeman, Inge, Ramakers, Geerte G J, Kraaijenga, Veronique J C, Koenraads, Simone P C, van Zanten, Gijsbert A, Rinia, Albert B, Stokroos, Robert J, Free, Rolien H, Frijns, Johan H M, Huinck, Wendy J, Mylanus, Emmanuel A M, Tange, Rinze A, Smit, Adriana L, Thomeer, Hans G X M, Topsakal, Vedat, and Grolman, Wilko

Published
2017

10. Stable benefits of bilateral over unilateral cochlear implantation after two years : A randomized controlled trial

Author

van Zon, Alice, Smulders, Yvette E, Stegeman, Inge, Ramakers, Geerte G J, Kraaijenga, Veronique J C, Koenraads, Simone P C, van Zanten, Gijsbert A, Rinia, Albert B, Stokroos, Robert J, Free, Rolien H, Frijns, Johan H M, Huinck, Wendy J, Mylanus, Emmanuel A M, Tange, Rinze A, Smit, Adriana L, Thomeer, Hans G X M, Topsakal, Vedat, Grolman, Wilko, van Zon, Alice, Smulders, Yvette E, Stegeman, Inge, Ramakers, Geerte G J, Kraaijenga, Veronique J C, Koenraads, Simone P C, van Zanten, Gijsbert A, Rinia, Albert B, Stokroos, Robert J, Free, Rolien H, Frijns, Johan H M, Huinck, Wendy J, Mylanus, Emmanuel A M, Tange, Rinze A, Smit, Adriana L, Thomeer, Hans G X M, Topsakal, Vedat, and Grolman, Wilko

Published
2017

13. Stable benefits of bilateral over unilateral cochlear implantation after two years : A randomized controlled trial

Author

van Zon, Alice, Smulders, Yvette E, Stegeman, Inge, Ramakers, Geerte G J, Kraaijenga, Veronique J C, Koenraads, Simone P C, van Zanten, Gijsbert A, Rinia, Albert B, Stokroos, Robert J, Free, Rolien H, Frijns, Johan H M, Huinck, Wendy J, Mylanus, Emmanuel A M, Tange, Rinze A, Smit, Adriana L, Thomeer, Hans G X M, Topsakal, Vedat, Grolman, Wilko, van Zon, Alice, Smulders, Yvette E, Stegeman, Inge, Ramakers, Geerte G J, Kraaijenga, Veronique J C, Koenraads, Simone P C, van Zanten, Gijsbert A, Rinia, Albert B, Stokroos, Robert J, Free, Rolien H, Frijns, Johan H M, Huinck, Wendy J, Mylanus, Emmanuel A M, Tange, Rinze A, Smit, Adriana L, Thomeer, Hans G X M, Topsakal, Vedat, and Grolman, Wilko

Published
2017

14. Stable benefits of bilateral over unilateral cochlear implantation after two years: A randomized controlled trial

Author

MS KNO, Brain, Audiologen, Other research (not in main researchprogram), van Zon, Alice, Smulders, Yvette E, Stegeman, Inge, Ramakers, Geerte G J, Kraaijenga, Veronique J C, Koenraads, Simone P C, van Zanten, Gijsbert A, Rinia, Albert B, Stokroos, Robert J, Free, Rolien H, Frijns, Johan H M, Huinck, Wendy J, Mylanus, Emmanuel A M, Tange, Rinze A, Smit, Adriana L, Thomeer, Hans G X M, Topsakal, Vedat, Grolman, Wilko, MS KNO, Brain, Audiologen, Other research (not in main researchprogram), van Zon, Alice, Smulders, Yvette E, Stegeman, Inge, Ramakers, Geerte G J, Kraaijenga, Veronique J C, Koenraads, Simone P C, van Zanten, Gijsbert A, Rinia, Albert B, Stokroos, Robert J, Free, Rolien H, Frijns, Johan H M, Huinck, Wendy J, Mylanus, Emmanuel A M, Tange, Rinze A, Smit, Adriana L, Thomeer, Hans G X M, Topsakal, Vedat, and Grolman, Wilko

Published
2017

15. Middle ear abnormalities in Van Maldergem syndrome

Author

MS KNO, Other research (not in main researchprogram), MS Radiologie, Cancer, Verheij, Emmy, Thomeer, Henricus G X M, Pameijer, Frank A, Topsakal, Vedat, MS KNO, Other research (not in main researchprogram), MS Radiologie, Cancer, Verheij, Emmy, Thomeer, Henricus G X M, Pameijer, Frank A, and Topsakal, Vedat

Published
2017

19. Cost-Utility of Bilateral Versus Unilateral Cochlear Implantation in Adults : A Randomized Controlled Trial

Author

Smulders, Yvette E, van Zon, Alice, Stegeman, Inge, van Zanten, Gijsbert A, Rinia, Albert B, Stokroos, Robert J, Free, Rolien H, Maat, Bert, Frijns, Johan H M, Mylanus, Emmanuel A M, Huinck, Wendy J, Topsakal, Vedat, Grolman, Wilko, Smulders, Yvette E, van Zon, Alice, Stegeman, Inge, van Zanten, Gijsbert A, Rinia, Albert B, Stokroos, Robert J, Free, Rolien H, Maat, Bert, Frijns, Johan H M, Mylanus, Emmanuel A M, Huinck, Wendy J, Topsakal, Vedat, and Grolman, Wilko

Published
2016

21. Comparison of Bilateral and Unilateral Cochlear Implantation in Adults : A Randomized Clinical Trial

Author

Smulders, Yvette E, van Zon, Alice, Stegeman, Inge, Rinia, Albert B, Van Zanten, Gijsbert A, Stokroos, Robert J, Hendrice, Nadia, Free, Rolien H, Maat, Bert, Frijns, Johan H M, Briaire, Jeroen J, Mylanus, Emmanuel A M, Huinck, Wendy J, Smit, Adriana L, Topsakal, Vedat, Tange, Rinze A, Grolman, Wilko, Smulders, Yvette E, van Zon, Alice, Stegeman, Inge, Rinia, Albert B, Van Zanten, Gijsbert A, Stokroos, Robert J, Hendrice, Nadia, Free, Rolien H, Maat, Bert, Frijns, Johan H M, Briaire, Jeroen J, Mylanus, Emmanuel A M, Huinck, Wendy J, Smit, Adriana L, Topsakal, Vedat, Tange, Rinze A, and Grolman, Wilko

Published
2016

22. Nonmuscle Myosin Heavy Chain IIA Mutation Predicts Severity and Progression of Sensorineural Hearing Loss in Patients With MYH9-Related Disease

Author

Verver, Eva J J, Topsakal, Vedat, Kunst, Henricus P M, Huygen, Patrick L M, Heller, Paula G, Pujol-Moix, Nuria, Savoia, Anna, Benazzo, Marco, Fierro, Tiziana, Grolman, Wilko, Gresele, Paolo, Pecci, Alessandro, Verver, Eva J J, Topsakal, Vedat, Kunst, Henricus P M, Huygen, Patrick L M, Heller, Paula G, Pujol-Moix, Nuria, Savoia, Anna, Benazzo, Marco, Fierro, Tiziana, Grolman, Wilko, Gresele, Paolo, and Pecci, Alessandro

Published
2016

26. Cost-Utility of Bilateral Versus Unilateral Cochlear Implantation in Adults : A Randomized Controlled Trial

Author

Smulders, Yvette E, van Zon, Alice, Stegeman, Inge, van Zanten, Gijsbert A, Rinia, Albert B, Stokroos, Robert J, Free, Rolien H, Maat, Bert, Frijns, Johan H M, Mylanus, Emmanuel A M, Huinck, Wendy J, Topsakal, Vedat, Grolman, Wilko, Smulders, Yvette E, van Zon, Alice, Stegeman, Inge, van Zanten, Gijsbert A, Rinia, Albert B, Stokroos, Robert J, Free, Rolien H, Maat, Bert, Frijns, Johan H M, Mylanus, Emmanuel A M, Huinck, Wendy J, Topsakal, Vedat, and Grolman, Wilko

Published
2016

27. Comparison of Bilateral and Unilateral Cochlear Implantation in Adults : A Randomized Clinical Trial

Author

Smulders, Yvette E, van Zon, Alice, Stegeman, Inge, Rinia, Albert B, Van Zanten, Gijsbert A, Stokroos, Robert J, Hendrice, Nadia, Free, Rolien H, Maat, Bert, Frijns, Johan H M, Briaire, Jeroen J, Mylanus, Emmanuel A M, Huinck, Wendy J, Smit, Adriana L, Topsakal, Vedat, Tange, Rinze A, Grolman, Wilko, Smulders, Yvette E, van Zon, Alice, Stegeman, Inge, Rinia, Albert B, Van Zanten, Gijsbert A, Stokroos, Robert J, Hendrice, Nadia, Free, Rolien H, Maat, Bert, Frijns, Johan H M, Briaire, Jeroen J, Mylanus, Emmanuel A M, Huinck, Wendy J, Smit, Adriana L, Topsakal, Vedat, Tange, Rinze A, and Grolman, Wilko

Published
2016

29. Nonmuscle Myosin Heavy Chain IIA Mutation Predicts Severity and Progression of Sensorineural Hearing Loss in Patients With MYH9-Related Disease

Author

Verver, Eva J J, Topsakal, Vedat, Kunst, Henricus P M, Huygen, Patrick L M, Heller, Paula G, Pujol-Moix, Nuria, Savoia, Anna, Benazzo, Marco, Fierro, Tiziana, Grolman, Wilko, Gresele, Paolo, Pecci, Alessandro, Verver, Eva J J, Topsakal, Vedat, Kunst, Henricus P M, Huygen, Patrick L M, Heller, Paula G, Pujol-Moix, Nuria, Savoia, Anna, Benazzo, Marco, Fierro, Tiziana, Grolman, Wilko, Gresele, Paolo, and Pecci, Alessandro

Published
2016

32. Comparison of Bilateral and Unilateral Cochlear Implantation in Adults : A Randomized Clinical Trial

Author

Smulders, Yvette E, van Zon, Alice, Stegeman, Inge, Rinia, Albert B, Van Zanten, Gijsbert A, Stokroos, Robert J, Hendrice, Nadia, Free, Rolien H, Maat, Bert, Frijns, Johan H M, Briaire, Jeroen J, Mylanus, Emmanuel A M, Huinck, Wendy J, Smit, Adriana L, Topsakal, Vedat, Tange, Rinze A, Grolman, Wilko, Smulders, Yvette E, van Zon, Alice, Stegeman, Inge, Rinia, Albert B, Van Zanten, Gijsbert A, Stokroos, Robert J, Hendrice, Nadia, Free, Rolien H, Maat, Bert, Frijns, Johan H M, Briaire, Jeroen J, Mylanus, Emmanuel A M, Huinck, Wendy J, Smit, Adriana L, Topsakal, Vedat, Tange, Rinze A, and Grolman, Wilko

Published
2016

33. Cost-Utility of Bilateral Versus Unilateral Cochlear Implantation in Adults : A Randomized Controlled Trial

Author

Smulders, Yvette E, van Zon, Alice, Stegeman, Inge, van Zanten, Gijsbert A, Rinia, Albert B, Stokroos, Robert J, Free, Rolien H, Maat, Bert, Frijns, Johan H M, Mylanus, Emmanuel A M, Huinck, Wendy J, Topsakal, Vedat, Grolman, Wilko, Smulders, Yvette E, van Zon, Alice, Stegeman, Inge, van Zanten, Gijsbert A, Rinia, Albert B, Stokroos, Robert J, Free, Rolien H, Maat, Bert, Frijns, Johan H M, Mylanus, Emmanuel A M, Huinck, Wendy J, Topsakal, Vedat, and Grolman, Wilko

Published
2016

34. Nonmuscle Myosin Heavy Chain IIA Mutation Predicts Severity and Progression of Sensorineural Hearing Loss in Patients With MYH9-Related Disease

Author

Verver, Eva J J, Topsakal, Vedat, Kunst, Henricus P M, Huygen, Patrick L M, Heller, Paula G, Pujol-Moix, Nuria, Savoia, Anna, Benazzo, Marco, Fierro, Tiziana, Grolman, Wilko, Gresele, Paolo, Pecci, Alessandro, Verver, Eva J J, Topsakal, Vedat, Kunst, Henricus P M, Huygen, Patrick L M, Heller, Paula G, Pujol-Moix, Nuria, Savoia, Anna, Benazzo, Marco, Fierro, Tiziana, Grolman, Wilko, Gresele, Paolo, and Pecci, Alessandro

Published
2016

38. Effect of day-case unilateral cochlear implantation in adults on general and disease-specific quality of life, postoperative complications and hearing results, tinnitus, vertigo and cost-effectiveness: Protocol for a randomised controlled trial

Author

Verpleegafdeling Mondz/Kaakchir. D5 Oost, Other research (not in main researchprogram), Brain, Derks, Laura S M, Wegner, Inge, Smit, Adriana L., Thomeer, Hans G X M, Topsakal, Vedat, Grolman, Wilko, Verpleegafdeling Mondz/Kaakchir. D5 Oost, Other research (not in main researchprogram), Brain, Derks, Laura S M, Wegner, Inge, Smit, Adriana L., Thomeer, Hans G X M, Topsakal, Vedat, and Grolman, Wilko

Published
2016

39. Systematic Review on Surgical Outcomes and Hearing Preservation for Cochlear Implantation in Children and Adults

Author

MS KNO, Brain, Zorgeenheid MKA/BT Medisch, Other research (not in main researchprogram), Zorgeenheid KNO Medisch, Bruijnzeel, Hanneke, Draaisma, Kaspar, van Grootel, Roderick, Stegeman, Inge, Topsakal, Vedat, Grolman, Wilko, MS KNO, Brain, Zorgeenheid MKA/BT Medisch, Other research (not in main researchprogram), Zorgeenheid KNO Medisch, Bruijnzeel, Hanneke, Draaisma, Kaspar, van Grootel, Roderick, Stegeman, Inge, Topsakal, Vedat, and Grolman, Wilko

Published
2016

40. Cost-Utility of Bilateral Versus Unilateral Cochlear Implantation in Adults: A Randomized Controlled Trial

Author

MS KNO, Brain, Audiologen, Other research (not in main researchprogram), Zorgeenheid KNO Medisch, Smulders, Yvette E, van Zon, Alice, Stegeman, Inge, van Zanten, Gijsbert A, Rinia, Albert B, Stokroos, Robert J, Free, Rolien H, Maat, Bert, Frijns, Johan H M, Mylanus, Emmanuel A M, Huinck, Wendy J, Topsakal, Vedat, Grolman, Wilko, MS KNO, Brain, Audiologen, Other research (not in main researchprogram), Zorgeenheid KNO Medisch, Smulders, Yvette E, van Zon, Alice, Stegeman, Inge, van Zanten, Gijsbert A, Rinia, Albert B, Stokroos, Robert J, Free, Rolien H, Maat, Bert, Frijns, Johan H M, Mylanus, Emmanuel A M, Huinck, Wendy J, Topsakal, Vedat, and Grolman, Wilko

Published
2016

42. Comparison of Bilateral and Unilateral Cochlear Implantation in Adults: A Randomized Clinical Trial

Author

KNO Onderzoek, MS KNO, Brain, Audiologen, Other research (not in main researchprogram), Zorgeenheid KNO Medisch, Smulders, Yvette E, van Zon, Alice, Stegeman, Inge, Rinia, Albert B, Van Zanten, Gijsbert A, Stokroos, Robert J, Hendrice, Nadia, Free, Rolien H, Maat, Bert, Frijns, Johan H M, Briaire, Jeroen J, Mylanus, Emmanuel A M, Huinck, Wendy J, Smit, Adriana L, Topsakal, Vedat, Tange, Rinze A, Grolman, Wilko, KNO Onderzoek, MS KNO, Brain, Audiologen, Other research (not in main researchprogram), Zorgeenheid KNO Medisch, Smulders, Yvette E, van Zon, Alice, Stegeman, Inge, Rinia, Albert B, Van Zanten, Gijsbert A, Stokroos, Robert J, Hendrice, Nadia, Free, Rolien H, Maat, Bert, Frijns, Johan H M, Briaire, Jeroen J, Mylanus, Emmanuel A M, Huinck, Wendy J, Smit, Adriana L, Topsakal, Vedat, Tange, Rinze A, and Grolman, Wilko

Published
2016

43. Nonmuscle Myosin Heavy Chain IIA Mutation Predicts Severity and Progression of Sensorineural Hearing Loss in Patients With MYH9-Related Disease

Author

Zorgeenheid KNO Medisch, Brain, MS KNO, Other research (not in main researchprogram), Verver, Eva J J, Topsakal, Vedat, Kunst, Henricus P M, Huygen, Patrick L M, Heller, Paula G, Pujol-Moix, Nuria, Savoia, Anna, Benazzo, Marco, Fierro, Tiziana, Grolman, Wilko, Gresele, Paolo, Pecci, Alessandro, Zorgeenheid KNO Medisch, Brain, MS KNO, Other research (not in main researchprogram), Verver, Eva J J, Topsakal, Vedat, Kunst, Henricus P M, Huygen, Patrick L M, Heller, Paula G, Pujol-Moix, Nuria, Savoia, Anna, Benazzo, Marco, Fierro, Tiziana, Grolman, Wilko, Gresele, Paolo, and Pecci, Alessandro

Published
2016

44. A Study of the Clinical and Radiological Features in a Cohort of 93 Patients with a COL2A1 Mutation Causing Spondyloepiphyseal Dysplasia Congenita or a Related Phenotype

Author

Terhal, Paulien A., Nievelstein, Rutger Jan A. J., Verver, Eva J. J., Topsakal, Vedat, van Dommelen, Paula, Hoornaert, Kristien, Le Merrer, Martine, Zankl, Andreas, Simon, Marleen E. H., Smithson, Sarah F., Marcelis, Carlo, Kerr, Bronwyn, Clayton-Smith, Jill, Kinning, Esther, Mansour, Sahar, Elmslie, Frances, Goodwin, Linda, van der Hout, Annemarie H., Veenstra-Knol, Hermine E., Herkert, Johanna C., Lund, Allan M., Hennekam, Raoul C. M., Megarbane, Andre, Lees, Melissa M., Wilson, Louise C., Male, Alison, Hurst, Jane, Alanay, Yasemin, Annerén, Göran, Betz, Regina C., Bongers, Ernie M. H. F., Cormier-Daire, Valerie, Dieux, Anne, David, Albert, Elting, Mariet W., van den Ende, Jenneke, Green, Andrew, van Hagen, Johanna M., Hertel, Niels Thomas, Holder-Espinasse, Muriel, den Hollander, Nicolette, Homfray, Tessa, Hove, Hanne D., Price, Susan, Raas-Rothschild, Annick, Rohrbach, Marianne, Schroeter, Barbara, Suri, Mohnish, Thompson, Elizabeth M., Tobias, Edward S., Toutain, Annick, Vreeburg, Maaike, Wakeling, Emma, Knoers, Nine V., Coucke, Paul, Mortier, Geert R., Terhal, Paulien A., Nievelstein, Rutger Jan A. J., Verver, Eva J. J., Topsakal, Vedat, van Dommelen, Paula, Hoornaert, Kristien, Le Merrer, Martine, Zankl, Andreas, Simon, Marleen E. H., Smithson, Sarah F., Marcelis, Carlo, Kerr, Bronwyn, Clayton-Smith, Jill, Kinning, Esther, Mansour, Sahar, Elmslie, Frances, Goodwin, Linda, van der Hout, Annemarie H., Veenstra-Knol, Hermine E., Herkert, Johanna C., Lund, Allan M., Hennekam, Raoul C. M., Megarbane, Andre, Lees, Melissa M., Wilson, Louise C., Male, Alison, Hurst, Jane, Alanay, Yasemin, Annerén, Göran, Betz, Regina C., Bongers, Ernie M. H. F., Cormier-Daire, Valerie, Dieux, Anne, David, Albert, Elting, Mariet W., van den Ende, Jenneke, Green, Andrew, van Hagen, Johanna M., Hertel, Niels Thomas, Holder-Espinasse, Muriel, den Hollander, Nicolette, Homfray, Tessa, Hove, Hanne D., Price, Susan, Raas-Rothschild, Annick, Rohrbach, Marianne, Schroeter, Barbara, Suri, Mohnish, Thompson, Elizabeth M., Tobias, Edward S., Toutain, Annick, Vreeburg, Maaike, Wakeling, Emma, Knoers, Nine V., Coucke, Paul, and Mortier, Geert R.

Abstract

Type 2 collagen disorders encompass a diverse group of skeletal dysplasias that are commonly associated with orthopedic, ocular, and hearing problems. However, the frequency of many clinical features has never been determined. We retrospectively investigated the clinical, radiological, and genotypic data in a group of 93 patients with molecularly confirmed SEDC or a related disorder. The majority of the patients (80/93) had short stature, with radiological features of SEDC (n=64), others having SEMD (n=5), Kniest dysplasia (n=7), spondyloperipheral dysplasia (n=2), or Torrance-like dysplasia (n=2). The remaining 13 patients had normal stature with mild SED, Stickler-like syndrome or multiple epiphyseal dysplasia. Over 50% of the patients had undergone orthopedic surgery, usually for scoliosis, femoral osteotomy or hip replacement. Odontoid hypoplasia was present in 56% (95% CI 38-74) and a correlation between odontoid hypoplasia and short stature was observed. Atlanto-axial instability, was observed in 5 of the 18 patients (28%, 95% CI 10-54) in whom flexion-extension films of the cervical spine were available; however, it was rarely accompanied by myelopathy. Myopia was found in 45% (95% CI 35-56), and retinal detachment had occurred in 12% (95% CI 6-21; median age 14 years; youngest age 3.5 years). Thirty-two patients complained of hearing loss (37%, 95% CI 27-48) of whom 17 required hearing aids. The ophthalmological features and possibly also hearing loss are often relatively frequent and severe in patients with splicing mutations. Based on clinical findings, age at onset and genotype-phenotype correlations in this cohort, we propose guidelines for the management and follow-up in this group of disorders.

Published
2015
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45. Validation of the U-STARR with the AB-York crescent of sound, a new instrument to evaluate speech intelligibility in noise and spatial hearing skills

Author

Smulders, Yvette E., Rinia, Albert B., Pourier, Vanessa E C, Van Zon, Alice, Van Zanten, Gijsbert A., Stegeman, Inge, Scherf, Fanny W A C, Smit, Adriana L., Topsakal, Vedat, Tange, Rinze A., Grolman, Wilko, Smulders, Yvette E., Rinia, Albert B., Pourier, Vanessa E C, Van Zon, Alice, Van Zanten, Gijsbert A., Stegeman, Inge, Scherf, Fanny W A C, Smit, Adriana L., Topsakal, Vedat, Tange, Rinze A., and Grolman, Wilko

Published
2015

47. A Study of the Clinical and Radiological Features in a Cohort of 93 Patients with a COL2A1 Mutation Causing Spondyloepiphyseal Dysplasia Congenita or a Related Phenotype

Author

Terhal, Paulien A., Nievelstein, Rutger Jan, Verver, Eva J. J., Topsakal, Vedat, van Dommelen, Paula, Hoornaert, Kristien, Le Merrer, Martine, Zankl, Andreas, Simon, Marleen E. H., Smithson, Sarah F., Marcelis, Carlo, Kerr, Bronwyn, Clayton-Smith, Jill, Kinning, Esther, Mansour, Sahar, Elmslie, Frances, Goodwin, Linda, van der Hout, Annemarie H., Veenstra-Knol, Hermine E., Herkert, Johanna C., Lund, Allan M., Hennekam, Raoul C. M., Megarbane, Andre, Lees, Melissa M., Wilson, Louise C., Male, Alison, Hurst, Jane, Alanay, Yasemin, Anneren, Goeran, Betz, Regina C., Bongers, Ernie M. H. F., Cormier-Daire, Valerie, Dieux, Anne, David, Albert, Elting, Mariet W., van den Ende, Jenneke, Green, Andrew, van Hagen, Johanna M., Hertel, Niels Thomas, Holder-Espinasse, Muriel, den Hollander, Nicolette, Homfray, Tessa, Hove, Hanne D., Price, Susan, Raas-Rothschild, Annick, Rohrbach, Marianne, Schroeter, Barbara, Suri, Mohnish, Thompson, Elizabeth M., Tobias, Edward S., Toutain, Annick, Vreeburg, Maaike, Wakeling, Emma, Knoers, Nine V., Coucke, Paul, Mortier, Geert R., Terhal, Paulien A., Nievelstein, Rutger Jan, Verver, Eva J. J., Topsakal, Vedat, van Dommelen, Paula, Hoornaert, Kristien, Le Merrer, Martine, Zankl, Andreas, Simon, Marleen E. H., Smithson, Sarah F., Marcelis, Carlo, Kerr, Bronwyn, Clayton-Smith, Jill, Kinning, Esther, Mansour, Sahar, Elmslie, Frances, Goodwin, Linda, van der Hout, Annemarie H., Veenstra-Knol, Hermine E., Herkert, Johanna C., Lund, Allan M., Hennekam, Raoul C. M., Megarbane, Andre, Lees, Melissa M., Wilson, Louise C., Male, Alison, Hurst, Jane, Alanay, Yasemin, Anneren, Goeran, Betz, Regina C., Bongers, Ernie M. H. F., Cormier-Daire, Valerie, Dieux, Anne, David, Albert, Elting, Mariet W., van den Ende, Jenneke, Green, Andrew, van Hagen, Johanna M., Hertel, Niels Thomas, Holder-Espinasse, Muriel, den Hollander, Nicolette, Homfray, Tessa, Hove, Hanne D., Price, Susan, Raas-Rothschild, Annick, Rohrbach, Marianne, Schroeter, Barbara, Suri, Mohnish, Thompson, Elizabeth M., Tobias, Edward S., Toutain, Annick, Vreeburg, Maaike, Wakeling, Emma, Knoers, Nine V., Coucke, Paul, and Mortier, Geert R.

Published
2015

48. Validation of the U-STARR with the AB-York crescent of sound, a new instrument to evaluate speech intelligibility in noise and spatial hearing skills

Author

Smulders, Yvette E., Rinia, Albert B., Pourier, Vanessa E C, Van Zon, Alice, Van Zanten, Gijsbert A., Stegeman, Inge, Scherf, Fanny W A C, Smit, Adriana L., Topsakal, Vedat, Tange, Rinze A., Grolman, Wilko, Smulders, Yvette E., Rinia, Albert B., Pourier, Vanessa E C, Van Zon, Alice, Van Zanten, Gijsbert A., Stegeman, Inge, Scherf, Fanny W A C, Smit, Adriana L., Topsakal, Vedat, Tange, Rinze A., and Grolman, Wilko

Published
2015

50. A Study of the Clinical and Radiological Features in a Cohort of 93 Patients with a COL2A1 Mutation Causing Spondyloepiphyseal Dysplasia Congenita or a Related Phenotype

Author

Terhal, Paulien A., Nievelstein, Rutger Jan, Verver, Eva J. J., Topsakal, Vedat, van Dommelen, Paula, Hoornaert, Kristien, Le Merrer, Martine, Zankl, Andreas, Simon, Marleen E. H., Smithson, Sarah F., Marcelis, Carlo, Kerr, Bronwyn, Clayton-Smith, Jill, Kinning, Esther, Mansour, Sahar, Elmslie, Frances, Goodwin, Linda, van der Hout, Annemarie H., Veenstra-Knol, Hermine E., Herkert, Johanna C., Lund, Allan M., Hennekam, Raoul C. M., Megarbane, Andre, Lees, Melissa M., Wilson, Louise C., Male, Alison, Hurst, Jane, Alanay, Yasemin, Anneren, Goeran, Betz, Regina C., Bongers, Ernie M. H. F., Cormier-Daire, Valerie, Dieux, Anne, David, Albert, Elting, Mariet W., van den Ende, Jenneke, Green, Andrew, van Hagen, Johanna M., Hertel, Niels Thomas, Holder-Espinasse, Muriel, den Hollander, Nicolette, Homfray, Tessa, Hove, Hanne D., Price, Susan, Raas-Rothschild, Annick, Rohrbach, Marianne, Schroeter, Barbara, Suri, Mohnish, Thompson, Elizabeth M., Tobias, Edward S., Toutain, Annick, Vreeburg, Maaike, Wakeling, Emma, Knoers, Nine V., Coucke, Paul, Mortier, Geert R., Terhal, Paulien A., Nievelstein, Rutger Jan, Verver, Eva J. J., Topsakal, Vedat, van Dommelen, Paula, Hoornaert, Kristien, Le Merrer, Martine, Zankl, Andreas, Simon, Marleen E. H., Smithson, Sarah F., Marcelis, Carlo, Kerr, Bronwyn, Clayton-Smith, Jill, Kinning, Esther, Mansour, Sahar, Elmslie, Frances, Goodwin, Linda, van der Hout, Annemarie H., Veenstra-Knol, Hermine E., Herkert, Johanna C., Lund, Allan M., Hennekam, Raoul C. M., Megarbane, Andre, Lees, Melissa M., Wilson, Louise C., Male, Alison, Hurst, Jane, Alanay, Yasemin, Anneren, Goeran, Betz, Regina C., Bongers, Ernie M. H. F., Cormier-Daire, Valerie, Dieux, Anne, David, Albert, Elting, Mariet W., van den Ende, Jenneke, Green, Andrew, van Hagen, Johanna M., Hertel, Niels Thomas, Holder-Espinasse, Muriel, den Hollander, Nicolette, Homfray, Tessa, Hove, Hanne D., Price, Susan, Raas-Rothschild, Annick, Rohrbach, Marianne, Schroeter, Barbara, Suri, Mohnish, Thompson, Elizabeth M., Tobias, Edward S., Toutain, Annick, Vreeburg, Maaike, Wakeling, Emma, Knoers, Nine V., Coucke, Paul, and Mortier, Geert R.

Published
2015

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