USMF logo

Institutional Repository in Medical Sciences
of Nicolae Testemitanu State University of Medicine and Pharmacy
of the Republic of Moldova
(IRMS – Nicolae Testemitanu SUMPh)

Biblioteca Stiintifica Medicala
DSpace

University homepage  |  Library homepage

 
 
Please use this identifier to cite or link to this item: http://hdl.handle.net/20.500.12710/18034
Full metadata record
DC FieldValueLanguage
dc.contributor.authorFilip, Viorica-
dc.date.accessioned2021-09-29T13:28:42Z-
dc.date.available2021-09-29T13:28:42Z-
dc.date.issued2014-
dc.identifier.citationFILIP, Viorica. Genetic heterogeneity of deafness and its practical implications. In: MedEspera: the 5th Internat. Medical Congress for Students and Young Doctors: abstract book. Chișinău: S. n., 2014, p. 16.en_US
dc.identifier.urihttp://repository.usmf.md/handle/20.500.12710/18034-
dc.description.abstractIntroduction: The fundamental process involved in audition is controlled by hundreds of genes, 69 of which are known: 24 AD, 40 AR, 2XL, 3 mitochondrial. Mutant alleles of these genes may determine hereditary deafness. Loss of hearing is etiologically heterogeneous, 2/3 of childhood onset deafness being of a genetic cause. The prevalence of bilateral sensoneural deafness (>40 dB) is 1:500 healthy new-borns. More than 50% of prelingual deafness is of genetic origin, 70% of which is nonsyndromic, from which 85% is autosomal-recessive. About 400 syndromes include deafness as a component of its phenotype. In Republic of Moldova, deafness hold 3rd place in the structure of disability, number of hearing impaired children being more than 2000. Purpose and objectives: Analysis of molecular-genetic aspects of deafness and subsequent implications. Objectives were defined as: (1) systematic review of scientific literature regarding epidemiology, genetic heterogeneity, diagnosis and consequences of hereditary deafness; (2) analysis of deafness incidence in Republic of Moldova; (3) elucidating critically the practical implications regarding genotype variations of hereditary deafness. Materials and methods: The study group was prospectively selected during 2013/14, from deaf patients at Republican Center of Audiology. Patients filled up a questionnaire at discharge. Additionally to cases (patients with hereditary deafness), were random selected an equal number of controls (patients wdth non-hereditary deafness). Results: The study group consisted of 10 cases and 10 controls, with a mean age of 5±2,22 years, 65% females. Mean age of diagnosis was 2,3±1,49 years, being fit into maximal plasticity period of central auditory pathways. The count of sensoneural deafness in hereditary group represented 90%, with a single case of transmission hearing loss, bilateral in 90% of cases and 10% of controls, with a postlingual onset in 70%. Pedigree analysis of cases showed 90% AR transmission pattern, and 10% AD. Conclusion: (1) The cause of deafness may be clinically suspected due to anamnesis and syndrome association, but substrate confirmation should be done with molecular-genetic tests. Although family history can help suspect the genetic cause of deafness, absence of hearing-loss anamnesis at family members does not mean that hearing impairment is not of genetic origin. (2) Recognition of genetic heterogeneity is important in clinical diagnosis, prognosis and genetic counseling regarding recurrence risk.en_US
dc.language.isoenen_US
dc.publisherMinistry of Health of the Republic of Moldova, State Medical and Pharmaceutical University Nicolae Testemitanu, Medical Students and Residents Associationen_US
dc.relation.ispartofMedEspera: The 5th International Medical Congress for Students and Young Doctors, May 14-17, 2014, Chisinau, Republic of Moldovaen_US
dc.subjecthereditary deafnessen_US
dc.subjectconnexin-26en_US
dc.subjectsensoneural hearing-lossen_US
dc.titleGenetic heterogeneity of deafness and its practical implicationsen_US
dc.typeOtheren_US
Appears in Collections:MedEspera 2014

Files in This Item:
File Description SizeFormat 
14._GENETIC_HETEROGENEITY_OF_DEAFNESS_AND_ITS_PRACTICAL_IMPLICATIONS.pdf1.15 MBAdobe PDFView/Open


Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.

 

Valid XHTML 1.0! DSpace Software Copyright © 2002-2013  Duraspace - Feedback