| 1. |
- Bovo, Roberto, et al.
(författare)
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Cochlear implant in Cogan syndrome
- 2011
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Ingår i: Acta Oto-Laryngologica. - : Taylor & Francis. - 0001-6489 .- 1651-2251. ; 131:5, s. 494-497
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Tidskriftsartikel (refereegranskat)abstract
- Conclusions: Despite the need for special fitting strategies, improvements in speech discrimination tests support the use of cochlear implantation (CI) for patients with Cogan syndrome. Adequate preimplant counselling is mandatory, to prevent high expectations and to stress the necessity for bilateral implantation.Objective: In 60% of patients with Cogan syndrome, CI remains the only treatment option. Literature data agree that once the electrode array is properly inserted, functional outcomes are very good. Nevertheless, results may deteriorate due to progressive cochlear ossification. A few studies have documented the outcomes of CI in these patients, but none have reported the long-term results.Methods: This was a retrospective study describing the outcomes of 3 implanted patients with Cogan syndrome – among 300 adult patients who received a cochlear implant, 3 had become deaf due to Cogan syndrome.Results: In one patient the cochlear ossification advanced and the speech perception abilities worsened from the highest category to identification of words in closed set. The second patient complained of an abrupt reduction of loudness at 18 months post-implant, which required an increased electrical stimulation. The third patient reached the identification category probably due to auditory dyssynchrony, as an atypical consequence of the syndrome.
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| 2. |
- Busi, Micol, et al.
(författare)
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Cochlear Implant Outcomes and Genetic Mutations in Children with Ear and Brain Anomalies
- 2015
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Ingår i: Biomedical Research International. - : Hindawi Publishing Corporation. - 2314-6133 .- 2314-6141. ; 2015
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Tidskriftsartikel (refereegranskat)abstract
- Background: Specific clinical conditions could compromise cochlear implantation outcomes and drastically reduce the chance of an acceptable development of perceptual and linguistic capabilities. These conditions should certainly include the presence of inner ear malformations or brain abnormalities. The aims of this work were to study the diagnostic value of high resolution computed tomography (HRCT) and magnetic resonance imaging (MRI) in children with sensorineural hearing loss who were candidates for cochlear implants and to analyse the anatomic abnormalities of the ear and brain in patients who underwent cochlear implantation. We also analysed the effects of ear malformations and brain anomalies on the CI outcomes, speculating on their potential role in the management of language developmental disorders.Methods: The present study is a retrospective observational review of cochlear implant outcomes among hearing-impaired children who presented ear and/or brain anomalies at neuroimaging investigations with MRI and HRCT. Furthermore, genetic results from molecular genetic investigations (GJB2/GJB6 and, additionally, in selected cases, SLC26A4 or mitochondrial-DNA mutations) on this study group were herein described. Longitudinal and cross-sectional analysis was conducted using statistical tests.Results: Between January 1, 1996 and April 1, 2012, at the ENT-Audiology Department of the University Hospital of Ferrara, 620 cochlear implantations were performed. There were 426 implanted children at the time of the present study (who were <18 years). Among these, 143 patients (64 females and 79 males) presented ear and/or brain anomalies/lesions/malformations at neuroimaging investigations with MRI and HRCT. The age of the main study group (143 implanted children) ranged from 9 months and 16 years (average = 4.4; median = 3.0).Conclusions: Good outcomes with cochlear implants are possible in patients who present with inner ear or brain abnormalities, even if central nervous system anomalies represent a negative prognostic factor that is made worse by the concomitant presence of cochlear malformations. Common cavity and stenosis of the internal auditory canal (less than 2 mm) are negative prognostic factors even if brain lesions are absent.
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| 3. |
- Castiglione, Alessandro, 1976-, et al.
(författare)
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Sudden sensorineural hearing loss and polymorphisms in iron homeostasis genes : new insights from a case-control study
- 2015
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Ingår i: BioMed Research International. - London : Hindawi Limited. - 2314-6133 .- 2314-6141.
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Tidskriftsartikel (refereegranskat)abstract
- Background: Even if various pathophysiological events have been proposed as explanations, the putative cause of sudden hearing loss remains unclear.Objectives: To investigate and to reveal associations (if any) between the main iron-related gene variants and idiopathic sudden sensorineural hearing loss.Study Design: Case-control study.Materials and Methods: A total of 200 sudden sensorineural hearing loss patients (median age 63.65 years; range 10–92) were compared with 400 healthy control subjects. The following genetic variants were investigated: the polymorphism c.−8CG in the promoter of the ferroportin gene (FPN1; SLC40A1), the two isoforms C1 and C2 (p.P570S) of the transferrin protein (TF), the amino acidic substitutions p.H63D and p.C282Y in the hereditary hemochromatosis protein (HFE), and the polymorphism c.–582AG in the promoter of the HEPC gene, which encodes the protein hepcidin (HAMP).Results: The homozygous genotype c.−8GG of the SLC40A1 gene revealed an OR for ISSNHL risk of 4.27 (CI 95%, 2.65–6.89; ), being overrepresented among cases.Conclusions: Our study indicates that the homozygous genotype FPN1 −8GG was significantly associated with increased risk of developing sudden hearing loss. These findings suggest new research should be conducted in the field of iron homeostasis in the inner ear.
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| 4. |
- Tisato, Veronica, et al.
(författare)
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LINE-1 global DNA methylation, iron homeostasis genes, sex and age in sudden sensorineural hearing loss (SSNHL)
- 2023
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Ingår i: Human Genomics. - : BioMed Central (BMC). - 1473-9542 .- 1479-7364. ; 17:1
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Tidskriftsartikel (refereegranskat)abstract
- Background: Sudden sensorineural hearing loss (SSNHL) is an abrupt loss of hearing, still idiopathic in most of cases. Several mechanisms have been proposed including genetic and epigenetic interrelationships also considering iron homeostasis genes, ferroptosis and cellular stressors such as iron excess and dysfunctional mitochondrial superoxide dismutase activity.Results: We investigated 206 SSNHL patients and 420 healthy controls for the following genetic variants in the iron pathway: SLC40A1 - 8CG (ferroportin; FPN1), HAMP - 582AG (hepcidin; HEPC), HFE C282Y and H63D (homeostatic iron regulator), TF P570S (transferrin) and SOD2 A16V in the mitochondrial superoxide dismutase-2 gene. Among patients, SLC40A1 - 8GG homozygotes were overrepresented (8.25% vs 2.62%; P = 0.0015) as well SOD2 16VV genotype (32.0% vs 24.3%; P = 0.037) accounting for increased SSNHL risk (OR = 3.34; 1.54-7.29 and OR = 1.47; 1.02-2.12, respectively). Moreover, LINE-1 methylation was inversely related (r2 = 0.042; P = 0.001) with hearing loss score assessed as pure tone average (PTA, dB HL), and the trend was maintained after SLC40A1 - 8CG and HAMP - 582AG genotype stratification (Delta SLC40A1 = + 8.99 dB HL and Delta HAMP = - 6.07 dB HL). In multivariate investigations, principal component analysis (PCA) yielded PC1 (PTA, age, LINE-1, HAMP, SLC40A1) and PC2 (sex, HFEC282Y, SOD2, HAMP) among the five generated PCs, and logistic regression analysis ascribed to PC1 an inverse association with moderate/severe/profound HL (OR = 0.60; 0.42-0.86; P = 0.0006) and with severe/profound HL (OR = 0.52; 0.35-0.76; P = 0.001).Conclusion: Recognizing genetic and epigenetic biomarkers and their mutual interactions in SSNHL is of great value and can help pharmacy science to design by pharmacogenomic data classical or advanced molecules, such as epidrugs, to target new pathways for a better prognosis and treatment of SSNHL.
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