Meet Enchant

An overview of the Enchant hearing instrument family from Sonic.

from #Audiology via xlomafota13 on Inoreader http://ift.tt/2vVF5DJ
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Meet Enchant

An overview of the Enchant hearing instrument family from Sonic.

from #Audiology via ola Kala on Inoreader http://ift.tt/2vVF5DJ
via IFTTT

Meet Enchant

An overview of the Enchant hearing instrument family from Sonic.

from #Audiology via ola Kala on Inoreader http://ift.tt/2vVF5DJ
via IFTTT

The effect of thyroid autoantibody positivity on the functions of internal ear.

The effect of thyroid autoantibody positivity on the functions of internal ear.

Eur Arch Otorhinolaryngol. 2017 Aug 18;:

Authors: Gunes A, Karakus MF, Telli TA, Gunes NA, Mutlu M

Abstract
The objective of the study is to investigate if any significant difference exists in hearing thresholds and tympanometric examination results among patients whose thyroid antibody positivity was detected approximately 1 year or at least 5 years ago. Study population aged less than 40 years consisted of 17 patients who had thyroid antibody positivities for an average of 1 year (first group), 15 patients who were followed up for at least 5 years for thyroid antibody positivity (second group), and 18 volunteers (third group). Tympanometric examination results, stapes reflex, SRT, SD, and pure tone values were examined. When the second group and the third group were compared, significant results were obtained at hearing frequencies between 500 and 4000 Hz. When the first group and the third group were compared, only at 1000 Hz threshold significant results were obtained. During evaluation of hearing frequencies between 250 and 8000 Hz, significant results were not observed between the second group and the first group. When the first and the second groups were compared with the control group, significant results were obtained as for tympanometric examination findings and significant results were not observed between the second group and the first group. A significant difference was not detected as for the results of stapes reflex. Since thyroid antibody positivity affects the functions of internal ear, these patients should be more closely monitored. Since these effects become deeper in line with increased exposure to autoantibody positivity, variations in auditory responses should be more attentively monitored.

PMID: 28821945 [PubMed - as supplied by publisher]

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Whole-exome sequencing to identify the cause of congenital sensorineural hearing loss in carriers of a heterozygous GJB2 mutation.

Whole-exome sequencing to identify the cause of congenital sensorineural hearing loss in carriers of a heterozygous GJB2 mutation.

Eur Arch Otorhinolaryngol. 2017 Aug 18;:

Authors: Parzefall T, Frohne A, Koenighofer M, Kirchnawy A, Streubel B, Schoefer C, Frei K, Lucas T

Abstract
Bi-allelic variations in the gap junction protein beta-2 (GJB2) gene cause up to 50% of cases of newborn hearing loss. Heterozygous pathogenic GJB2 variations are also fivefold overrepresented in idiopathic patient groups compared to the normal-hearing population. Whether hearing loss in this group is due to unidentified additional variations within GJB2 or variations in other deafness genes is unknown in most cases. Whole-exome sequencing offers an effective approach in the search for causative variations in patients with Mendelian diseases. In this prospective genetic cohort study, we initially investigated a family of Turkish origin suffering from congenital autosomal recessive hearing loss. An index patient and his normal-hearing father, both bearing a single heterozygous pathogenic c.262G>T (p.Ala88Ser) GJB2 transversion as well as the normal-hearing mother were investigated by means of whole-exome sequencing. Subsequently the genetic screening was extended to a hearing-impaired cohort of 24 families of Turkish origin. A homozygous missense c.5492G>T transversion (p.Gly1831Val) in the Myosin 15a gene, previously linked to deafness, was identified as causative in the index family. This very rare variant is not listed in any population in the Genome Aggregation Database. Subsequent screening of index patients from additional families of Turkish origin with recessive hearing loss identified the c.5492G>T variation in an additional family. Whole-exome sequencing may effectively identify the causes of idiopathic hearing loss in patients bearing heterozygous GJB2 variations.

PMID: 28821934 [PubMed - as supplied by publisher]

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