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Biomedical subjects

A Hirst-Stadlmann

Publications and source records attributed to A Hirst-Stadlmann.

4 recordsLinked to original sources
PubMed2001

Improvement in early detection of congenital hearing impairment due to universal newborn hearing screening.

OBJECTIVE: The aim of this study was to determine whether universal newborn hearing screening (UNHS) is effective in increasing the number of children whose hearing impairment is detected early, i.e. within the first 6 months of life. It also investigated whether UNHS contributes most to the early detection of moderately and severely hearing-impaired newborns, as suggested by a recently published report. METHODS: The study consisted of a retrospective analysis of the data of all children born in Tyrol between 1980 and 1999 and having an at least moderate permanent hearing loss in the better ear. RESULTS: The findings are that since UNHS was introduced in some newborn nurseries in 1995, a substantially higher number of hearing-impaired children has been detected early. For the whole sample, the increase of the early detection rate is 39.9%, with a 95% confidence interval of 33.2-46.8% (P<0.0001). For moderate hearing loss the increase is 49.2 with a 95% confidence intervall of 39.6-58.8% (P=0.000). CONCLUSIONS: On the whole, our findings lend support to the view that UNHS is effective in early detection of congenital hearing impairment. We conclude that UNHS provides the greatest benefit for moderately hearing-impaired children who, otherwise, would have been detected last.

Hearing Disorders↗
PubMed2001

De novo mutation of the connexin 26 gene associated with dominant non-syndromic sensorineural hearing loss.

Mutations of the connexin 26 (Cx26) gene cause isolated recessive or dominant hearing loss or both sensorineural hearing impairment and keratoderma. We have identified the first de novo mutation of the Cx26 gene, R75 W, in a sporadic case of isolated profound hearing loss. R75 W has been previously observed in association with hearing impairment and keratoderma in one family and is thus thought to cause both syndromic and non-syndromic hearing loss. This case illustrates the risk of a possible erroneous diagnosis of autosomal recessive hearing loss in a sporadic case.

Amino Acid Substitution↗
PubMed2001

Sensorineural hearing loss and the incidence of Cx26 mutations in Austria.

A clinical evaluation and Cx26 mutation analysis was performed in 92 consecutive patients with sensorineural hearing loss in order to delineate the spectrum of genetically caused hearing loss. Among patients of Austrian origin, 53% were classified with hereditary hearing loss. Cx26 mutations were found in 26% of NSHL patients (40% of familial vs 18% of sporadic cases). The mutation 35delG accounted for 52.8% of all presumed GJB2 disease alleles. The second most frequent mutation was L90P (16.7%) having been reported with a prevalence of 0.7-3.5% in other populations. Three novel mutations were found. The novel mutation, R143Q, was associated with dominant high-frequency hearing loss. Pseudodominant transmission of NSHL was seen in four families with Cx26 mutations. A mutation 35delG carrier rate of 0.9% was observed among 672 controls from West-Austria. Cx26 mutations were found associated with mild to profound, and with asymmetric hearing impairment.

Austria↗