Publications (26) View all
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Article: Mutational analysis for GJB2, GJB6, and GJB3 genes in Campania within a universal neonatal hearing screening programme.
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ABSTRACT: To determine the incidence of GJB2 and GJB3 mutations and of two deletions upstream of the GJB6 gene in infants of the Campania region of southern Italy. DNA samples from non-syndromic hearing-impaired infants enrolled in a neonatal screening programme for sensorineural hearing loss were analysed by PCR and by direct sequencing. The audiological features of infants with biallelic GJB2 mutations were also examined to identify genotype-phenotype correlations. Molecular analyses were carried out in 129 affected and five unaffected infants. A genetic etiology of hearing loss was identified in 28% of infants, including several at environmental risk of hearing loss. Neither GJB6 nor GJB3 (a gene not previously investigated in the Campania population) mutations were found. This study confirms the importance of universal neonatal hearing screening. The identification of a genetic cause in infants at environmental risk indicates that such infants should be included when investigating etiology. We confirm that also in our geographical area, c.35delG homozygotes tend to have severe symmetrical hearing loss, whereas hearing impairment is milder in compound heterozygotes.International journal of audiology 09/2011; 50(12):866-70. · 1.34 Impact Factor -
Article: R75Q dominant mutation in GJB2 gene silenced by the in Cis recessive mutation c.35delG.
American Journal of Medical Genetics Part A 10/2010; 152A(10):2658-60. · 2.39 Impact Factor -
Article: Screening for GJB2 and GJB6 gene mutations in patients from Campania region with sensorineural hearing loss.
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ABSTRACT: The aim of this study was to screen 349 patients affected by sensorineural hearing loss (SNHL), mostly from the Campania region (southern Italy), for GJB2 gene mutations and for two deletions of the GJB6 gene (del GJB6 -D13S1830 and del GJB6 -D13S1854). We identified pathogenetic GJB2 mutations in 51 cases (15% of patients). No GJB6 mutation was found. We also examined the audiologic features of the patients for whom we had an etiologic diagnosis, in order to identify correlations between the severity of hearing loss and the type of mutation.International journal of audiology 04/2010; 49(4):326-31. · 1.34 Impact Factor -
Article: Effect over time of allopurinol on noise-induced hearing loss in guinea pigs: Efecto en el tiempo del alopurinol sobre la hipoacusia inducida por ruido en cobayos
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ABSTRACT: Temporary threshold shift (TTS) and permanent threshold shift (PTS) may follow prolonged noise exposure. Several reports suggest that noise-induced damage to the cochlea may be related to the activity of reactive oxygen species (ROS). Drugs that scavenge or block ROS formation also protect the cochlea. Guinea pigs, treated with allopurinol, were exposed to white noise (120 dB SPL) or impulse noise (114 dB SPL) for 2 and 5 h. The protective effect of allopurinol was confirmed, but, at these levels of sound, it was present only after noise exposure up to 2 h. This study also offers evidence suggesting that allopurinol does not influence the establishment of PTS. La exposición prolongada al ruido puede provocar cambios temporales (TTS) y permanentes de umbral (PTS). Varios reportes sugieren que los daños inducidos por el ruido en la cóclea pueden estar relacionados con la actividad de especies reactivas al oxígeno (ROS). Hay medicamentos que destruyen o bloquean la formaciones de ROS y que también protegen la cóclea. Un grupo de cobayos tratados con alopurinol fue expuesto a un ruido bianco (120 dB SPL) o a ruidos de impulso (114 dB SPL) durante 2 y 5 horas. El efecto protector del alopurinol fue confirmado, pero, a estos niveles de sonoros, solamente se hizo presente después de exposición a ruido por más de 2 horas. Este estudio ofrece evidencias que sugieren que el alopurinol no influye en el establecimiento del PTS.07/2009; 42(4):227-234. -
Article: Feasibility and effectiveness of a population-based newborn hearing screening in an economically deprived region of Italy.
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ABSTRACT: AIM: To describe the effectiveness of a population-based newborn hearing screening program in an economically deprived region of southern Italy. METHODS: A screening protocol was proposed for all newborns of the Campania region, starting on January, 2007. For infants identified with hearing loss, information on degree and type of hearing loss and presence of risk factors was collected. RESULTS: The infants born in the 3-year study period were 182,188. Among them, 146,026 (80%) were tested with OAE. Sensorineural hearing loss ≥40dBnHL was established for 159 infants (1.1×1000). Among the NICU and WIN infants, the rate of hearing loss was respectively 9×1000 and 0.67×1000. Follow-up information was available for 111 children (70%), as 48 (30%) got care in other regions or health facilities. Most infants were fitted hearing aids by 1 month after diagnosis and 15 children (13.5%) received a cochlear implant at a mean age of 25 months (SD 10). CONCLUSIONS: Even in a setting of population poverty, a universal newborn screening program can deliver satisfactory outcomes. The coverage and the tracking system of the program need to be improved, as well as the cooperation between public and private health services.International journal of pediatric otorhinolaryngology 01/2013; · 0.85 Impact Factor
