medigraphic.com
ISSN 1729-519X (Print)

2014, Number 6

<< Back Next >>

Revista Habanera de Ciencias Médicas 2014; 13 (6)

Hearing impairment of genetic origin in Cuban pat i ents with cochlear implant

Mattos VMB, Morales PE, Hernández PXI, Quintana MSE, Álvarez RMB, Martín GY, González SGA

Language: Spanish
References: 14
Page: 884-892
PDF size: 92.65 Kb.


ABSTRACT

Introduction: neurosensory hearing loss is the most frequent auditory disability. It has great clinical and etiologic heterogeneity; its relative etiology frequency may vary depending upon the study method. Cochlear implantation is the most efficient treatment for bilateral and profound neurosensory hearing loss.
Objectives: to identify causes of Neurosensory hearing lost in Cuban patients with Cochlear implantation and to describe its clinical features.
Material and Methods: a transversal descriptive study was performed between September 2012 and December 2013. Children and adults with Cochlear implantation, implanted in Cuba until 2012 were clinically studied.
Material and Methods: a transversal descriptive study was performed between September 2012 and December 2013. Children and adults with Cochlear implantation, implanted in Cuba until 2012 were clinically studied.
Conclusion: clinical and etiological heterogeneity was evident among patients with Cochlear implantation; clinical assessment is necessary to establish genetic origin and provide genetic counseling to patients and their family.


REFERENCES

  1. Ramírez-Dueñas ML, Ramírez-Dueñas MC, Matute E, Cantú JM. Genetically caused deafness: prospective study of 109 children in a special school. Arch Invest Med (Mex). 1990 Oct-Dec; 21(4):299-303.

  2. Programa Cubano de Implante Coclear. Curso Básico de Implantes. La Habana: Centro Internacional de Salud La Pradera; 2012.

  3. Colectivo de autores. Por la vida: estudio psicosocial de las personas con discapacidades y estudio psicopedagógico, social y clínico-genético de las personas con retraso mental en Cuba. La Habana: Casa editora Abril; 2003.

  4. Morton CC. Genetics, genomics and gene discovery in the auditory system.Hum Mol Genet. 2002 May 15; 11(10):1229-40.

  5. Falk R.E, Honrubia D, Fischel-Ghodsian N. Hereditary Hearing Loss and Deafness. En: Rimoin D, Connor JM, Pieritz RE, Korf BE, editors. Emery and Rimoin`s. Principles and Practice of Medical Genetics. 5th ed. Philadelphia: ELSEVIER; 2007, p. 3265-89.

  6. Smith R, Hildebrand M, Van Camp G. Deafness and Hereditary Hearing Loss Overview. 2010. [sede Web]. GeneReviews: NCBI. [Acceso 12 de Julio de 2012]. Disponible en: http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene& part=deafness-overview#deafness-overview.T1

  7. Hereditary Hearing loss Homepage. [sede Web]. Hereditary Hearing loss Homepage. 2010. [Acceso 12 de julio de 2012]. Disponible en: http://webh01.ua.ac.be/hhh/

  8. Dalamón V, Elgoyhen A. Hipoacusias de origen genético: Actualización. Rev Med Clin Condes. 2009; 20(4):408-17.

  9. Álvarez Y, Morales E, Rodríguez H, Pérez J, González Y. Características de las hipoacusias en un grupo de discapacitados auditivos. La Habana: Panorama Cuba y Salud; 2009; 4(1):20-27.

  10. Menéndez I, Ponce M, Carrillo B, Gil J. Sorderas neurosensoriales no sindrómicas, análisis de la herencia en 10 familias. Rev Cubana Pediatr. 1998;70(2):92-9.

  11. Tamayo ML, Bernal J. Alteraciones visuales y auditivas de origen genético: aspectos oftalmológicos, audiológicos y genéticos. Santa Fe de Bogotá: CEJA; 1998.

  12. Pandya A. Nonsyndromic hearing loss and deafness, mitocondrial. GeneReviews. En: Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014. [Citado 13 de octubre de 2014]. Disponible en: http://www.ncbi.nlm.nih.gov/pubmed/20301595#

  13. Olarte M, Gelvez N, Flórez S, Castillo I, Tamayo M. Frecuencia de mutaciones en el gen JGB2, GJB6, OTOF y 12SrRNA asociadas con sordera no sindrómica autosómica recesiva en una población colombiana. Iatreia [Internet]. 2010; 23:4. [Citado 16/11/2014]. Disponible en: http://aprendeenlinea.udea.edu.co/revistas/index.php/iatreia/issue/view/94

  14. Mandelsberg P, Márquez C, García C, Sánchez A, Rodríguez A, Vázquez E, et al. Importancia del diagnóstico de mutaciones en el gen de la conexina 26 en el manejo integral de la sordera congénita no sindrómica. Bol Med Hosp Infant Mex. 2013;70(2): 89-97.




2020     |     www.medigraphic.com