All

What are you looking for?

All
Projects
Results
Organizations

Quick search

  • Projects supported by TA ČR
  • Excellent projects
  • Projects with the highest public support
  • Current projects

Smart search

  • That is how I find a specific +word
  • That is how I leave the -word out of the results
  • “That is how I can find the whole phrase”

Prevalence of Fabry disease in men with tinnitus and sensorineural hearing loss

The result's identifiers

  • Result code in IS VaVaI

    <a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00159816%3A_____%2F21%3A00075816" target="_blank" >RIV/00159816:_____/21:00075816 - isvavai.cz</a>

  • Alternative codes found

    RIV/00216208:11120/21:43921336 RIV/61383082:_____/21:00001048 RIV/00216208:11110/21:10425954 RIV/00064203:_____/21:10425954 and 3 more

  • Result on the web

    <a href="https://jab.zsf.jcu.cz/artkey/jab-202101-0006_prevalence-of-fabry-disease-in-men-with-tinnitus-and-sensorineural-hearing-loss.php" target="_blank" >https://jab.zsf.jcu.cz/artkey/jab-202101-0006_prevalence-of-fabry-disease-in-men-with-tinnitus-and-sensorineural-hearing-loss.php</a>

  • DOI - Digital Object Identifier

    <a href="http://dx.doi.org/10.32725/jab.2021.003" target="_blank" >10.32725/jab.2021.003</a>

Alternative languages

  • Result language

    angličtina

  • Original language name

    Prevalence of Fabry disease in men with tinnitus and sensorineural hearing loss

  • Original language description

    Fabry disease (FD) is a lysosomal storage disorder caused by pathogenic mutations in the alpha-galactosidase A (AGALA) encoding gene region. This rare disease affects several organs induding the cochlea-vestibular system. Tinnitus and sensorineural hearing loss (SNHL) are reported among otoneurological symptoms. Early and correct diagnosis of FD is important with a view to available therapy. The aim of the study was to screen for alpha-galactosidase deficiency in men with tinnitus/SNHL. A prospective multicentric study induding consecutive patients with SNHL confirmed by tone audiometry or tinnitus evaluated (10/2016-8/2019). The diagnosis of AGALA deficiency was done by dry blood spot method using a threshold of 1.2 mu mol/l/h. Only men aged 18-60 were induded. 181 patients were subject to evaluation. SNHL was reported in 126 (70%) patients, 50 (28%) patients had unilateral, 76 (42%) patients had bilateral SNHL. Tinnitus was found in 161 (89%) patients, unilateral in 96 (53%) and bilateral in 65 (36%) patients. Suspected FD was not detected in any patient; alpha-galactosidase The AGALA values ranged 1.5-8.8 mu mol/l/h, an average of 3.4 mu mol/l/h. None of the 181 patients participating in the study had AGALA levels below the threshold 1.2 mu mol/l/h. The occurrence of tinnitus and sensorineural hearing loss in men appears to be an irrelevant clinical sign for FD systematic screening.

  • Czech name

  • Czech description

Classification

  • Type

    J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database

  • CEP classification

  • OECD FORD branch

    30100 - Basic medicine

Result continuities

  • Project

  • Continuities

    I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Others

  • Publication year

    2021

  • Confidentiality

    S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Data specific for result type

  • Name of the periodical

    Journal of Applied Biomedicine

  • ISSN

    1214-021X

  • e-ISSN

  • Volume of the periodical

    19

  • Issue of the periodical within the volume

    1

  • Country of publishing house

    CZ - CZECH REPUBLIC

  • Number of pages

    5

  • Pages from-to

    57-61

  • UT code for WoS article

    000625384900006

  • EID of the result in the Scopus database