0000000000148167

AUTHOR

Eleonora La Mattina

showing 4 related works from this author

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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Distribution and phenotype ofGJB2mutations in 102 Sicilian patients with congenital non syndromic sensorineural hearing loss

2014

Objective: To evaluate the frequency of GJB2 mutations and their correlation with phenotype in Sicilian non-syndromic sensorineural hearing loss (NSHL) patients. Design: Sequencing of the coding region, basal promoter, exon 1, and donor splice site of the GJB2 gene; screening for the presence of the two common GJB6 deletions. Study sample: A cohort of 102 Sicilian NSHL patients. Results: Fifteen different mutations in GJB2 and seventeen different genotypes were detected. No GJB6 mutations were found. The hearing impairment was profound in the 64.72% of probands (mean PTA 0.25 – 4 kHz of 88.82 26.52 dB HL). A total of 81.37% of patients harboured at least one c.35delG allele; c.167delT and c…

AdultProbandLinguistics and Languagemedicine.medical_specialtyAdolescentGenotypeHearing Loss SensorineuralAudiologyConnexinsLanguage and LinguisticsYoung AdultSpeech and HearingExonBasal (phylogenetics)Genotypeotorhinolaryngologic diseasesHumansMedicineAlleleChildSicilyAgedRetrospective Studiesbiologybusiness.industrySensorineural hearing loss; GJB2; Genotype-Phenotype; SicilyMiddle Agedmedicine.diseaseGJB2Settore MED/32 - AudiologiaConnexin 26Settore MED/31 - OtorinolaringoiatriaPhenotypeSettore MED/03 - Genetica MedicaSensorineural hearing loGenotype-PhenotypeMutationCohortbiology.proteinSensorineural hearing lossbusinessGJB6International Journal of Audiology
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Audiologic profile of OSAS and simple snoring patients: the effect of chronic nocturnal intermittent hypoxia on auditory function

2016

The objective of this work was to study the effect of nocturnal intermittent hypoxia on auditory function of simple snoring patients and subjects affected by OSAS; we compared the audiologic profile with the severity of OSAS to detect early signs of cochlear damage. One hundred-sixty patients underwent overnight polysomnography, micro-otoscopy, multi-frequency audiometry, acufenometry, TEOAE recording and d-ROMs test. All subjects were divided in four groups, based on presence/absence of AHI (simple snoring without OSAS, mild OSAS, moderate OSAS, severe OSAS). Sixty (37.5 %) patients were not affected by OSAS, 58 (36.25 %) presented a mild OSAS, 18 (11.25 %) a moderate OSAS and 24 (15 %) a …

TinnituMaleOtoscopyPolysomnographyAudiologySeverity of Illness IndexTinnitus0302 clinical medicineHypoxia030223 otorhinolaryngologySleep Apnea Obstructivemedicine.diagnostic_testOtorhinolaryngology2734 Pathology and Forensic MedicineIntermittent hypoxiaGeneral MedicineMiddle AgedSettore MED/32 - AudiologiaSettore MED/31 - OtorinolaringoiatriaCardiologyFemaleNeurosurgerymedicine.symptomHearing loAdultMulti-frequency audiometrymedicine.medical_specialtyHearing lossPolysomnography03 medical and health sciencesAudiometrystomatognathic systemInternal medicineSeverity of illnessTEOAEotorhinolaryngologic diseasesmedicineHumansHearing Lossbusiness.industrySnoringHearing loss; Multi-frequency audiometry; OSAS; TEOAE; Tinnitus; Otorhinolaryngology2734 Pathology and Forensic MedicineOSASAuditory ThresholdHypoxia (medical)nervous system diseasesrespiratory tract diseases030228 respiratory systemOtorhinolaryngologyAudiometrybusinessTinnitusEuropean Archives of Oto-Rhino-Laryngology
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Essential of audiology: screening and postscreening

2014

Newborn hearing screening is a type of screening testfor the early detection of hearing loss. It can recognizewith good accuracy newborns affected by hearingimpairment allowing an early diagnosis and interventionand avoiding cognitive and linguistic deficits [1-6].The incidence of bilateral sensorineural hearing loss(SNHL) in Sicily is 2.35 cases per 1000 newborns; thisvalue increases to 2.95 if we consider also unilateral SNHL[2,3] and to 10 cases per 1000 births among infants at risk[7-9].A correct newborn hearing screening programme isbased on different protocols depending on the presence/absence of audiologic risk factors:† Newborns without risk factors: [1-3]Initial Hearing Screening (…

Pediatricsmedicine.medical_specialtyRespiratory distressHearing lossbusiness.industryIncidence (epidemiology)Early detectionAudiologymedicine.diseaseHearing screeningSettore MED/32 - AudiologiaAuditory brainstem responseSettore MED/31 - OtorinolaringoiatriaSettore MED/38 - Pediatria Generale E SpecialisticaAuditory neuropathy spectrum disorderMeeting Abstractotorhinolaryngologic diseasesmedicineOTOFNeonatal hearing screeningmedicine.symptombusiness
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