Search results for "Deaf"

showing 10 items of 104 documents

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…

ProbandMalemedicine.medical_specialtyGenotypeHearing lossHearing Loss SensorineuralGJB2 mutations Sensorineural hearing loss Genetic hearing loss · Cx26BiologyDeafnessCompound heterozygositymedicine.disease_causeGastroenterologySeverity of Illness IndexConnexinsCorrelationYoung AdultAudiometryInternal medicineGenotypemedicineHumansChildHearing LossSicilyGenetic Association StudiesGeneticsMutationGeneral Medicinemedicine.diseaseSettore MED/32 - AudiologiaConnexin 26Settore MED/31 - OtorinolaringoiatriaOtorhinolaryngologyChild PreschoolCohortMutationSensorineural hearing lossFemalemedicine.symptom
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Cognitive Functioning of the Prelingually Deaf Adults

2014

Deafness is a model of brain adaptation to sensory deprivation which entails psychomotor and cognitive domains. This study seeks to determine the level of emotional intelligence, assessed from the ability to discern emotions from facial expressions, visual and mental attention, and non-verbal fluency in the deaf people as compared with the hearing counterparts. Participants were 29 prelingually deaf, hearing loss of >70 dB, communicating only in sign language, and 30 hearing persons. The age range of all subjects was 40–50 years. Psychometric tools consisted of the Emotional Intelligence Scale-Faces, the d2 Test of Attention, and the Figural Fluency Test. Data elaboration took gender into a…

Psychomotor learningmedicine.medical_specialtyHearing lossEmotional intelligenceCognitionAudiologyFluencyotorhinolaryngologic diseasesmedicineD2 Test of AttentionPrelingual deafnessCognitive skillmedicine.symptomPsychology
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<b>Cognitive functioning of the prelingually deaf adults </b>

2014

Deafness is a model of brain adaptation to sensory deprivation which entails psychomotor and cognitive domains. This study seeks to determine the level of emotional intelligence, assessed from the ability to discern emotions from facial expressions, visual and mental attention, and non-verbal fluency in the deaf people as compared with the hearing counterparts. Participants were 29 prelingually deaf, hearing loss of >70 dB, communicating only in sign language, and 30 hearing persons. The age range of all subjects was 40–50 years. Psychometric tools consisted of the Emotional Intelligence Scale-Faces, the d2 Test of Attention, and the Figural Fluency Test. Data elaboration took gender into a…

Psychomotor learningmedicine.medical_specialtyHearing lossEmotional intelligenceCognitionGeneral MedicineAudiologyFluencyotorhinolaryngologic diseasesD2 Test of AttentionmedicinePrelingual deafnessCognitive skillmedicine.symptomPsychologyBIOPHILIA
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Molecular basis of human Usher syndrome: deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher …

2006

Usher syndrome (USH) is the most frequent cause of combined deaf-blindness in man. It is clinically and genetically heterogeneous and at least 12 chromosomal loci are assigned to three clinical USH types, namely USH1A-G, USH2A-C, USH3A (Davenport, S.L.H., Omenn, G.S., 1977. The heterogeneity of Usher syndrome. Vth Int. Conf. Birth Defects, Montreal; Petit, C., 2001. Usher syndrome: from genetics to pathogenesis. Annu. Rev. Genomics Hum. Genet. 2, 271-297). Mutations in USH type 1 genes cause the most severe form of USH. In USH1 patients, congenital deafness is combined with a pre-pubertal onset of retinitis pigmentosa (RP) and severe vestibular dysfunctions. Those with USH2 have moderate to…

Scaffold proteinModels MolecularUsher syndromePDZ domainProtocadherinCadherin Related ProteinsCell Cycle ProteinsNerve Tissue ProteinsBiologyDeafnessMyosinsCellular and Molecular NeuroscienceRetinitis pigmentosaotorhinolaryngologic diseasesmedicineAnimalsHumansAdaptor Proteins Signal TransducingGeneticsExtracellular Matrix ProteinsModels GeneticCadherinRetinal DegenerationSignal transducing adaptor proteinDyneinsMembrane Proteinsmedicine.diseaseCadherinsSensory SystemsOphthalmologyCytoskeletal ProteinsDisease Models AnimalMembrane proteinMyosin VIIaMutationMicrotubule ProteinsVestibule LabyrinthUsher SyndromesExperimental eye research
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Universal newborn hearing screening in the Italian Region of Sicily in 2018

2021

We have clarified the role of Universal Neonatal Hearing Screening (UNHS) for both early diagnosis and rapid treatment in order to improve the prognosis of the deaf child and reduce patient management costs. Although in Sicily UNHS has been progressively implemented, there is scarce data in the literature on this matter. Therefore, the main objective was to collect in the year 2018 the following data: number of newborns screened for hearing loss, number of infants "referred" to transiently evoked otoacoustic emissions (TEOAE), number of infants with pathologic auditory brainstem response (ABR) and number of infants affected by permanent hearing loss.UNHS monitoring was conducted through the…

Scarce dataPediatricsmedicine.medical_specialtyHearing lossOtoacoustic Emissions SpontaneousHearing screeningcongenital deafnessscreening universale uditivo neonataleNeonatal ScreeningCongenital deafness Neonatal hearing loss Universal newborn hearing screening Child Evoked Potentials Auditory Brain Stem Hearing Tests Humans Infant Newborn Otoacoustic Emissions Spontaneous Sicily Hearing Loss Neonatal ScreeningEpidemiologyEvoked Potentials Auditory Brain StemmedicineHumansneonatal hearing lossCongenital deafness; Neonatal hearing loss; Universal newborn hearing screening; Child; Evoked Potentials Auditory Brain Stem; Hearing Tests; Humans; Infant; Infant Newborn; Otoacoustic Emissions Spontaneous; Sicily; Hearing Loss; Neonatal ScreeningChildHearing LossEvoked PotentialsAuditorySicilyNeonatal hearing lossbusiness.industrySpontaneousHearing TestsBilateral hearing lossInfant NewbornInfantAudiologyNewbornuniversal newborn hearing screeningsordità congenitaPatient managementcongenital deafness; neonatal hearing loss; universal newborn hearing screening.General EnergyAuditory brainstem responseipoacusia neonataleOtorhinolaryngologymedicine.symptombusinessOtoacoustic EmissionsBrain StemActa Otorhinolaryngologica Italica
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AGE-RELATED HEARING IMPAIRMENT (ARHI): A COMMON SENSORY DEFICIT IN THE ELDERLY

2011

This paper aims to give a broad overview of the scientific findings related to Age-related hearing impairment that is a complex disorder, with both environmental as well as genetic factors contributing to the impairment. The involvement of several environmental factors has been partially elucidated. A first step towards the identification of the genetic factors has been made, which will result in the identification of susceptibility genes, and will provide possible targets for the future treatment and/or prevention of ARHI.

Settore MED/31 - OtorinolaringoiatriaAge related hearing loss presbiacusis tinnitus deafnessSettore MED/32 - Audiologia
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Medical therapy of Autoimmune deafness

2003

Settore MED/31 - Otorinolaringoiatriaautoimmune deafnessSettore MED/32 - Audiologia
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Sensorineural hearing loss: Pathophysiology, diagnosis and treatment

2019

Hearing loss is one the commonest disabling diseases affecting populations of all ages worldwide. The impairment of hearing may be the cause of impaired language development in children, the cause of scholarly issues in adolescents, the cause of worsening of quality of life in the adults, and the cause of isolation of aged people. In this book, the authors present the hearing loss in all its facets, starting from the basis of pathophysiology and anatomy, passing through the clinical and instrumental diagnosis and, finally, describing the most important diseases causing hearing loss with reasonable treatment options. A section was dedicated to the imaging of the ear with about 100 original f…

Settore MED/31 - Otorinolaringoiatriadeafnesshearing losensorineural hearing loSettore MED/32 - Audiologia
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Profiling deaf and hard-of-hearing users of subtitles for the deaf and hard-of-hearing in Italy: a questionnaire-based study

2012

The aim of this article is to present the results of a questionnaire-based study carried out as part of the author’s Master’s Degree dissertation about Subtitles for the Deaf and Hard-of-hearing (SDH). In particular, the need to gather specific information regarding audience design will be highlighted in the paper, since this research field has long been neglected in Italy. The questions were aimed at shedding light on the needs, cultural environment and world-view of Italian SDH users, by eliciting personal data as well as subtitlerelated information. Moreover, the 232 respondents were asked to suggest improvements to SDH services in Italy. Although these first results cannot allow definit…

Subtitulado para sordos (SPS)Linguistics and LanguagePerfil de usuarios; Investigación mediante cuestionario; Subtitulado para sordos (SPS); Necesidades de la audiencia; Usuarios sordosmedia_common.quotation_subjectCultural environmentAudience designPerfil de usuariosSDHTraducció audiovisualLanguage and LinguisticsEducationDeaf and Hard-of-hearing usersProfiling (information science)Usuarios sordosAudience design. Questionnaire-based study. SDH. Audience needs. Deaf and Hard-of-hearing users.media_commonMedical educationUNESCO::CIENCIAS DE LAS ARTES Y LAS LETRASNecesidades de la audienciaSpecific-informationAudience design. Questionnaire-based study. SDH. Audience needs. Deaf and Hard-of-hearing usersTranslation and InterpretingTraducción e InterpretaciónArtTraducció--RevistesTraducción audiovisualAudience needs:CIENCIAS DE LAS ARTES Y LAS LETRAS [UNESCO]Questionnaire-based studyAudience designCartographyAudiovisual translationAudience design; Questionnaire-based study; SDH; Audience needs; Deaf and Hard-of-hearing usersInvestigación mediante cuestionario
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Cervico-Oculo-Acusticus (Wildervanck's) syndrome: a clinical variant of Klippel-Feil sequence?

1990

A 7-year-old female child with phenotype of Cervico-Oculo-Acousticus (Wildervanck's) syndrome is presented. In addition to fusion of multiple cervical vertebrae with short neck, abducens nerve palsy and deafness, the child showed severe growth and bone delay, renal abnormalities and slight mental retardation. The presence of such malformations seems to suggest that Wildervanck's syndrome is a clinical variant of Klippel-Feil sequence. Both conditions usually have sporadic occurrence with female prevalence, more consistent for cervico-oculo-acousticus syndrome. The possibility of dominant inheritance has been postulated for both, autosomal for Klippel-Feil, autosomal or X-linked with lethali…

Wildervanck's syndromemedicine.medical_specialtyPathologyKlippel–Feil syndromeDeafnessWildervanck syndromeInternal medicinemedicineHumansAbnormalities MultipleChildAbducens nerveGenes DominantSequence (medicine)OphthalmoplegiaPalsybusiness.industrySyndromemedicine.diseasePhenotypePhenotypeEndocrinologyKlippel-Feil SyndromePediatrics Perinatology and Child HealthEtiologyFemalebusinessKlinische Pädiatrie
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