A parsimonious approach for screening moderate-to-profound hearing loss in a community-dwelling geriatric population based on a decision tree analysisCommunity-dwelling geriatrics, Hearing screening, Decision treeBackgroundHearing loss is one of the most common modifiable factors associated with cognitive ...
In many populations, loss-of-function recessive mutations of TMC1 are associated with profound deafness across all frequencies tested. In six families reported here, variable moderate-to-severe or moderate-to-profound hearing loss co-segregated with STR (short tandem repeats) markers at the TMC1 ...
"Current screening programmes for newborn babies are good at picking up moderate-to-profound levels of hearing loss, but not at detecting mildhearing loss. This means that children with mild hearing impairment might not be detected until later in childhood, if at all," says Dr. Lorna Halliday...
In this report we present a Turkish family in which the proband had congenital profound deafness and was found to be homozygous for the 35delG mutation, whereas the father and a paternal uncle who had milder, late-onset sensorineural hearing loss had compound heterozygous 35delG and L90P ...
The prevalence of the p.V37I variant was compared between the subtle, mild or moderate hearing loss (group I) and the severe or profound hearing loss (group II) groups. Where possible, a targeted next generation sequencing of 82 deafness genes was performed from the p.V37I carrier to ...
What is the nature of the link between prelingual mild-to-moderate hearing loss (MMHL) and impaired language in children and adolescents? Although the scientific literature is sparse, it is clear that many experience considerable difficulty acquiring language, and that this difficulty is not limited...
Mutations in myosin XVA are responsible for the shaker2 ( sh2 ) phenotype in mice and nonsyndromic autosomal recessive profound hearing loss DFNB3 on chr... N Liburd,M Ghosh,S Riazuddin,... - 《Human Genetics》 被引量: 203发表: 2001年 Mutations in PTPRQ are a cause of autosomal-recessi...
Typically,TRIOBPpathogenic variants lead to prelingual, severe-to-profound hearing loss, thus the onset and degree of hearing impairment in our patients represent a distinct phenotypic manifestation caused byTRIOBPvariants. The pathogenic variant p.Gln268Leufs*610 disrupts the TRIOBP-4 and TRIOBP-5 ...
Outcomes research analysis of continuous intratympanic glucocorticoid delivery in patients with acute severe to profound hearing loss: Basis for planning r... The data presented herein form the basis for conducting randomized placebo-controlled clinical trials evaluating the safety and efficacy of salvage...
to moderate hearing loss.6–8 Recessive mutations in the OTOG, OTOGL, and STRC genes also are implicated in moderate hearing loss, rather than severe to profound hearing loss, in children.9–11 Alterations in autosomal dominant (AD) The first three authors contributed equally to this work. ...