Search results for "Deafne"
showing 10 items of 75 documents
Otitis media with effusion in children: Cross-frequency correlation in pure tone audiometry.
2019
Different guidelines are adopted in clinics and countries to assess pure tone hearing sensitivity in children with otitis media with effusion (OME). Some guidelines specify a broad range of audiometric frequencies that must be tested and from which average thresholds determined, while others leave test frequencies unspecified. For guidelines that suggest specific frequencies there are various pure tone frequencies and frequency ranges given. The present study investigated whether (1) a full range of audiometric frequencies is required to evaluate hearing loss caused by OME in children, or if neighboring frequencies provide essentially the same threshold information, and (2) if different com…
Ohjaava opetuskeskustelu suomalaisella viittomakielellä : tapaustutkimus kuuron oppilaan matematiikan opetuksesta
2014
Suomalaisen viittomakielen pro gradu –työssäni tarkastelen kuuron oppilaan viittomakielistä opetusta vuorovaikutuksen näkökulmasta. Tutkimusaineisto koostuu kahdesta matematiikan yksilöopetustunnista. Tutkimuksen tavoitteena on ollut selvittää, millaisia muotoja ohjaava opetuskeskustelu saa kuuron oppilaan suomalaisella viittomakielellä toteutetussa opetuksessa. Tapaustutkimuksen kautta yksilöidään ja luokitellaan myös viittomakielisen ohjaavan opetuskeskustelun osatekijöitä. Tutkimusaineiston analyysi perustuu Vygotskyn (1978) sosiokulttuuriseen teoriaan ja siihen liittyviin käsitteisiin oppimisen oikea-aikainen tukeminen ja lähikehityksen vyöhyke. Videotaltiointien analy…
The impact of visual cues during visual word recognition in deaf readers: An ERP study
2021
Abstract Although evidence is still scarce, recent research suggests key differences in how deaf and hearing readers use visual information during visual word recognition. Here we compared the time course of lexical access in deaf and hearing readers of similar reading ability. We also investigated whether one visual property of words, the outline-shape, modulates visual word recognition differently in both groups. We recorded the EEG signal of twenty deaf and twenty hearing readers while they performed a lexical decision task. In addition to the effect of lexicality, we assessed the impact of outline-shape by contrasting responses to pseudowords with an outline-shape that was consistent (e…
A genotype-phenotype correlation in Sicilian patients with GJB2 biallelic mutations
2015
The aim of this work was to study the genotype distribution of Sicilian patients with biallelic GJB2 mutations; to correlate genotype classes and/or specific mutations of GJB2 gene (35delG-non-35delG) with audiologic profiles. A total of 10 different mutations and 11 different genotypes were evidenced in 73 SNHL subjects; 35delG (90.36 % of cases) and IVS1+1 (13.69 %) were the most common mutations found in the cohort with a significant difference in the distribution between North and South Sicily. Audiological evaluation revealed a severe (16/73) to profound (47/73) hearing loss (HL) in 86.13 % of cases without significant difference between the degree of HL and the province of origin of t…
Variants of human CLDN9 cause mild to profound hearing loss
2021
Hereditary deafness is clinically and genetically heterogeneous. We investigated deafness segregating as a recessive trait in two families. Audiological examinations revealed an asymmetric mild to profound hearing loss with childhood or adolescent onset. Exome sequencing of probands identified a homozygous c.475G>A;p.(Glu159Lys) variant of CLDN9 (NM_020982.4) in one family and a homozygous c.370_372dupATC;p.(Ile124dup) CLDN9 variant in an affected individual of a second family. Claudin 9 (CLDN9) is an integral membrane protein and constituent of epithelial bicellular tight junctions that form semi-permeable, paracellular barriers between inner ear perilymphatic and endolymphatic compartment…
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…
Benefit of an animated simulation device for learning the highway code for deaf candidates : behavioural and physiological evaluation
2021
In France, the law called “loi handicap”, adopted on February 11th 2005, aims to ensure that people with disabilities benefit from the same conditions of access as all French citizens. The driving licence, because of its contribution to mobility, represents one of the major levers of an individual's general accessibility. Its successful completion improves social and professional integration. However, according to a parliamentary report of 2005, the success rate of deaf candidates in the theoretical exam of the highway code, allowing access to the practical exam of the driving license, was lower than that of hearing people.This thesis focuses on one of the possible causes of these differenc…
A bi-allelic loss-of-function SARS1 variant in children with neurodevelopmental delay, deafness, cardiomyopathy, and decompensation during fever
2021
Aminoacyl-tRNA synthetases (aaRS) are ubiquitously expressed enzymes responsible for ligating amino acids to their cognate tRNA molecules through an aminoacylation reaction. The resulting aminoacyl-tRNA is delivered to ribosome elongation factors to participate in protein synthesis. Seryl-tRNA synthetase (SARS1) is one of the cytosolic aaRSs and catalyzes serine attachment to tRNASer . SARS1 deficiency has already been associated with moderate intellectual disability, ataxia, muscle weakness, and seizure in one family. We describe here a new clinical presentation including developmental delay, central deafness, cardiomyopathy, and metabolic decompensation during fever leading to death, in a…
New approach to generating insights for aging research based on literature mining and knowledge integration.
2017
The proportion of the elderly population in most countries worldwide is increasing dramatically. Therefore, social interest in the fields of health, longevity, and anti-aging has been increasing as well. However, the basic research results obtained from a reductionist approach in biology and a bioinformatic approach in genome science have limited usefulness for generating insights on future health, longevity, and anti-aging-related research on a case by case basis. We propose a new approach that uses our literature mining technique and bioinformatics, which lead to a better perspective on research trends by providing an expanded knowledge base to work from. We demonstrate that our approach …
The internal auditory artery: (embryology, anatomy, angiography, pathology).
1975
A review of the literature on the embryology, anatomy and angiography of the internal auditory artery has shown that there may be considerable variation as to the origin and number of internal auditory arteries. The present study, based on serial magnification angiographies of the internal auditory artery, has demonstrated 7 variants of the origin of this artery although in 45.4% of cases the internal auditory artery arose from the anterior inferior cerebellar artery. For the diagnosis of pathological processes in the cerebellopontine angle (tumors, sudden deafness, vascular abnormalities) magnification angiography is of special importance. Acoustic neurinomas in particular can be diagnosed…