Search results for "Hearing"

METALANG. Protocolo franco-español de exploración de habilidades metalingüísticas en niños de 6 a 9 años: un estudio preliminar

2012

International audience; In this work are described the principles of functional-pragmatic and the reasons for developing an exploration protocol for natural metalinguistic abilities. This study explains the base hypothesis and structure of METALANG protocol. This protocol consists in a Test and a Questionnaire for parents with two different scales: A = Ability, B = Frequency. Each element of the protocol has 6 sections and 40 items. It is performed a preliminary contrast with 12 subjects aged 6 to 9 years. Among the 12 subjects, 4 were diagnosed with dysphasia. METALANG shows high scores in reliability and internal consistency. This result confirms the hypothesis that it is possible a joint…

Oxidative stress neuroinflammation and cellular stress response in sensorineural hearing loss: novel nutritional therapeutical approaches

2016

This study is intended to validate the hypothesis that changes in the redox state of glutathione, the major endogenous antioxidant, associated with the abnormal expression and activity of cytoprotective vitagenes, which in normal conditions are expressed only at low level may represent a critical factor, involved in the physiopathological changes associated to degenerative damage occurring in cochlear diseases. Moreover modulation of stress responsive vitagenes by nutritional antioxidants can be an effective therapeutic strategy to minimize consequences of oxidative stress associated to the pathogenesis and course of sensorineural hearing loss. One therapeutic approach can be antioxidant su…

Immunohistochemical localization of cyclooxygenase isoforms in the organ of Corti and the spiral ganglion cells of guinea pig cochlea.

2003

Prostaglandins have been used in experimental models and clinical studies for the therapy of sudden hearing loss and tinnitus with conflicting results. However, little is known about the rate-limiting enzymes of prostaglandin synthesis in the inner ear, the generally constitutively expressed cyclooxygenase 1 (COX-1) and the distress-inducible cycloxygenase 2 (COX-2). To extend our knowledge concerning the physiological expression and localization of these two enzymes, immunohistochemical stainings of the guinea pig cochlea were performed. Light microscopical analysis revealed a homogenous distribution of COX-1 within nearly all cell types of the organ of Corti, but no COX-1 expression in th…

Linkage analysis in Usher syndrome type I (USH1) families from Spain.

1998

Usher syndrome (USH) is an autosomal recessive hereditary disorder characterised by congenital sensorineural hearing loss and gradual visual impairment secondary to retinitis pigmentosa (RP). The disorder is clinically and genetically heterogeneous. With regard to Usher type I (USH1), several subtypes have been described, the most frequent being USH1B located on chromosome 11q13.5. Of 18 USH1 families studied by linkage analysis, 12 (67%) showed significant lod score values for locus D11S527 (Zmax=14.032, theta=0.000) situated on chromosome 11q. Our findings suggest considerable genetic heterogeneity in the Spanish USH1 population. It is important to note that one of our families linked to …

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 bot…

Mutation screening of USH3 gene (clarin-1) in Spanish patients with Usher syndrome: low prevalence and phenotypic variability

2004

Usher syndrome type III is an autosomal recessive disorder clinically characterized by the association of retinitis pigmentosa (RP), variable presence of vestibular dysfunction and progressive hearing loss, being the progression of the hearing impairment the critical parameter classically used to distinguish this form from Usher syndrome type I and Usher syndrome type II. Usher syndrome type III clinical subtype is the rarest form of Usher syndrome in Spain, accounting only for 6% of all Usher syndrome Spanish cases. The gene responsible for Usher syndrome type III is named clarin-1 and it is thought to be involved in hair cell and photoreceptor cell synapses. Here, we report a screening fo…

Molecular Analysis of the Supramolecular Usher Protein Complex in the Retina

2007

Human Usher syndrome (USH) is the most common form of deaf-blindness and also the most frequent case of recessive retinitis pigmentosa. According to the degree of the clinical symptoms, three different types of the Usher syndrome are distinguished: USH1, USH2 and USH3 (Davenport and Omenn, 1977). USH is genetically heterogeneous with eleven chromosomal loci, which can be assigned to the three USH types (USH1A-G, USH2A-C, USH3A) (Petit, 2001). Out of these, USH1 is the most severe form, characterized by profound congenital deafness, constant vestibular dysfunction and prepubertal-onset retinitis pigmentosa. USH2 patients show a milder congenital deafness, a slightly later onset of retinitis …

Estudio genético molecular del síndrome de Usher en España

2005

Usher syndrome (USH) associates deafness and retinitis pigmentosa (RP). It is a disease both clinically and genetically heterogeneous. It is inherited as an autosomal recessive trait and its prevalence makes it the most frequent association of hearing loss and RP. Clinically Usher syndrome is divided into type I (USH1), II (USH2) and III (USH3), according to the severity of hearing loss, age of onset of RP and the existence or not of vestibular dysfunction. There are at least 7 different localizations for USH1 and 5 genes have been identified. For USH2, 3 loci and 2 genes have been reported and USH3 is due to Clarin-1 gene. Our aim is to perform a clinical and genetic characterization of al…

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…

Genetic analysis of 2299delG and C759F mutations (USH2A) in patients with visual and/or auditory impairments

2004

The most common mutation in the USH2A gene (Usherin), 2299delG, causes both typical Usher (USH) syndrome type II and atypical USH syndrome, two autosomal recessive disorders, characterised by moderate to severe sensorineural hearing loss and retinitis pigmentosa (RP). Furthermore, the C759F mutation in the USH2A gene has been described in 4.5% of patients with nonsyndromic recessive RP. We have investigated the presence of the 2299delG and/or the C759F mutations in 191 unrelated Spanish patients with different syndromic and nonsyndromic retinal diseases, or with nonsyndromic hearing impairment. The 2299delG mutation was observed in patients with clinical signs of USHII or of atypical USH sy…