| 1. |
- Bovo, Roberto, et al.
(författare)
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Cavernous hemangioma of the external ear : case report and literature review
- 2010
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Ingår i: B-ENT. - : Societe Royale Belge d'Oto - Rhino - Laryngologie et de Chirurgie Cervico - Faciale. - 1781-782X .- 1781-782X. ; 6:2, s. 127-130
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Forskningsöversikt (refereegranskat)abstract
- Objectives: To describethe occurrence of a cavernous hemangioma of the external auditory meatus extending to the middle ear and the retroauricolar region in an adult patient, and to review the relevant literature.Methods: Case report. We report the clinical presentation, imaging studies and surgical procedures used in the study.Results: The angiographic study showed that the blood supply of the mass originated from the posterior auricular artery. Via a retroauricular approach, this artery was isolated and ligated in order to control the intra-operative bleeding. A canal wall up mastoidectomy with posterior tympanotomy and a tympano-canaloplasty were performed, permitting a complete excision. At 36 months of follow-up, no clinical and radiological signs of recurrence were detected.Conclusion: Surgical removal is the treatment of choice, with rare recurrence of the hemangiomas. Pre-operative evaluation is based on computed tomography (CT scan), but should be followed by magnetic resonance angiography (MR-angio) or intra-arterial digital subtraction angiography (IA-DSA), especially in case of wider lesions.
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| 2. |
- 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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| 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. |
- Ciorba, Andrea, et al.
(författare)
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Sudden bilateral sensorineural hearing loss as an unusual consequence of accidental ingestion of potassium hydroxide
- 2010
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Ingår i: Medical principles and practice. - Basel : S. Karger. - 1011-7571 .- 1423-0151. ; 19:5, s. 406-408
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Tidskriftsartikel (refereegranskat)abstract
- Objective: To discuss the possible etiopathogenetic mechanism of inner ear damage induced by the ingestion of potassium hydroxide (KOH).Clinical presentation and intervention: We report the case of a 37-year-old patient with sudden bilateral sensorineural hearing loss after accidental ingestion of a KOH solution. The first ear, nose and throat examination disclosed only mild edema of the upper airways. He was treated in the intensive care unit and prescribed high-dose steroids, proton pump inhibitors and sucralfate for 2 weeks. Unfortunately, there was no recovery of the hearing loss, and no audiogram changes were noticed after 12 months of follow-up.Conclusion: After exploring the possible etiopathogenetic mechanism involved, the authors believe that in this case, a transient severe hemodynamic imbalance can actually be considered to be the most reliable explanation for the inner ear damage and subsequent onset of permanent bilateral sensorineural hearing loss.
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| 5. |
- 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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