Search results for "deafness"
showing 10 items of 74 documents
La texture en musique : sa contribution pour la composition, l'apprentissage de la musique et ses effets sur la perception musicale et la cognition d…
2019
In the second half of the 20th century, the emergence of the notion of texture created new perspectives in the field of composition and music understanding. Today, it is clear that this notion became a valuable and major tool to analyse music by exceeding classic elements such as note, interval, rhythm, melody, and so on. The first part will be dedicated to define exactly this notion, and to analyze its use in the contemporary repertory and to introduce some thougths on its status in musicology. The second part will approach the question of deaf children hearing perception based on behavioral studies. The evaluation of the perceptual skills of deaf children in the field of music suffering a…
Novel form of X-linked nonsyndromic hearing loss with cochlear malformation caused by a mutation in the type IV collagen gene COL4A6
2013
Hereditary hearing loss is the most common human sensorineural disorder. Genetic causes are highly heterogeneous, with mutations detected in >40 genes associated with nonsyndromic hearing loss, to date. Whereas autosomal recessive and autosomal dominant inheritance is prevalent, X-linked forms of nonsyndromic hearing impairment are extremely rare. Here, we present a Hungarian three-generation family with X-linked nonsyndromic congenital hearing loss and the underlying genetic defect. Next-generation sequencing and subsequent segregation analysis detected a missense mutation (c.1771G>A, p.Gly591Ser) in the type IV collagen gene COL4A6 in all affected family members. Bioinformatic analysis an…
Meniere's disease: Therapeutic options
2021
Meniere's disease (MD) is characterized by the triad of fluctuating hearing loss, episodic vertigo and tinnitus, and by endolymphatic hydrops found on postmortem examinations. Since the description of endolymphatic hydrops by Hallpike and Cairns, the physiopathology of Meniere's symptoms has been based on assumption that the pathologic lesion was the cause of the symptoms. Schuknecht proposed the theory of membranous rupture causing the mixing up of endolymph and perilymph leading to the occurrence of Meniere's symptoms. Lawrence confirmed this theory with research on experimental animals. In 1995 the AAO-HNS criteria defines "Possible MD (Grade D), Probable MD (Grade C), Definite MD (Grade…
Understanding Deafhood: in search of its meanings.
2013
The authors argue that Deafhood (a term coined by Dr. Paddy Ladd) is an open-ended concept with an essentialist core. They describe how deaf people who have attended their Deafhood lectures and workshops have perceived different aspects of the Deafhood concept, and compare the basic tenets of Deafhood and criticisms on Deafhood to theories and criticisms on feminist essentialisms. The authors find that the vagueness and wideness of the Deafhood concept is one of its strengths, though they also find that it is in some respects problematic to combine and unite ontology and liberation theory in one concept. They further suggest that the ontological aspects of Deafhood need to be foregrounded. …
Genome-wide association analysis on normal hearing function identifies PCDH20 and SLC28A3 as candidates for hearing function and loss.
2015
Hearing loss and individual differences in normal hearing both have a substantial genetic basis. Although many new genes contributing to deafness have been identified, very little is known about genes/variants modulating the normal range of hearing ability. To fill this gap, we performed a two-stage meta-analysis on hearing thresholds (tested at 0.25, 0.5, 1, 2, 4, 8 kHz) and on pure-tone averages (low-, medium-and high-frequency thresholds grouped) in several isolated populations from Italy and Central Asia (total N = 2636). Here, we detected two genome-wide significant loci close to PCDH20 and SLC28A3 (top hits: rs78043697, P = 4.71E-10 and rs7032430, P = 2.39E-09, respectively). For both…
Epidemiological study of nonsyndromic hearing loss in Sicilian newborns
2007
Deafness is caused by a variety of facts, genetic and environmental. Regarding the acquired causes, deafness can be the consequence of prenatal infections, acoustic or cerebral trauma, and the use of ototoxic drugs. Deafness can be the only manifestation (nonsyndromic forms) or it may occur together with other phenotypic findings (syndromic forms). The majority of nonsyndromicdeafness has a genetic basis [Van Camp et al., 1997]. In recent years, deafness and hearing loss have assumed a clinical importance in the study of congenital disorders [Morton et al., 1991]. The clinical interest for hearing loss is supported by the social impact that this disorder has; if not treated, delays in the d…
Hearing impairment and diverse health outcomes: An umbrella review of meta-analyses of observational studies
2021
Background: Globally, it is estimated that approximately 1.3 billion people live with some form of hearing impairment. Major causes of hearing loss include infection/disease, age-related factors, and occupational factors. Numerous systematic reviews and meta-analyses have attempted to synthesise literature on these topics. To date there has not been a systematic evaluation of the relationships between hearing impairment and diverse physical, mental, and social outcomes. Objective: We performed an umbrella review of systematic reviews of observational studies with meta-analyses for any physical disease, biomarkers of disease, mental health or cognitive outcomes, and/or modifiable risk factor…
Do Sign Language Videos Improve Web Navigation for Deaf Signer Users?
2010
The efficacy of video-based sign language (SL) navigation aids to improve Web search for Deaf Signers was tested by two experiments. Experiment 1 compared 2 navigation aids based on text hyperlinks linked to embedded SL videos, which differed in the spatial contiguity between the text hyperlink and SL video (contiguous vs. distant). Deaf Signers’ performance was similar in Web search using both aids, but a positive correlation between their word categorization abilities and search efficiency appeared in the distant condition. In Experiment 2, the contiguous condition was compared with a text-only hyperlink condition. Deaf Signers became less disorientated (used shorter paths to find the tar…
Epidural hematoma after cochlear implantation in a 2.5-year-old boy.
2005
OBJECTIVE Report a case of an epidural hematoma after cochlear implantation in a 2.5-year-old boy, the diagnostic and therapeutical emergency management, as well as the postinterventional course and rehabilitation of the child. STUDY DESIGN Retrospective case review. PATIENT Two and a half-year-old boy, suffering from early onset, profound sensorineural hearing loss had been diagnosed at an age of 1.5 years, which had been more severe on the right side initially, but had progressed to bilateral deafness. INTERVENTION AND COMPLICATION: Cochlear implantation on the left side, followed up by an extensive epidural hematoma, causing intracranial compression with a midline shift of 15 mm to the r…
Vezatin, a novel transmembrane protein, bridges myosin VIIA to the cadherin-catenins complex
2000
International audience; Defects in myosin VIIA are responsible for deafness in the human and mouse. The role of this unconventional myosin in the sensory hair cells of the inner ear is not yet understood. Here we show that the C-terminal FERM domain of myosin VIIA binds to a novel transmembrane protein, vezatin, which we identi®ed by a yeast two-hybrid screen. Vezatin is a ubiquitous protein of adherens cell±cell junctions, where it interacts with both myosin VIIA and the cadherin±catenins complex. Its recruitment to adherens junctions implicates the C-terminal region of a-catenin. Taken together, these data suggest that myosin VIIA, anchored by vezatin to the cadherin±catenins complex, cre…