When comparing different studies the hearing thresholds were found to be similar. Therefore, it would be possible to establish international standard thresholds.
Background: Prior to the discovery of the Huntington's disease (HD) mutation, the prevalence, incidence, and new mutation rates for this disease were based on the presence of progressive choreic movements and a positive family history. Objective: To evaluate the uptake of the HD genetic analysis in Spain, and to provide additional information on the epidemiology of this disease from the experience of 9 years of direct genetic testing. Methods: From 1994 to 2002, CAG repeat length was determined in 317 patients with symptoms compatible with HD. In all cases, demographic, clinical, and family data were carefully reviewed. Results: HD diagnosis (CAG repeat length >36) was confirmed in 166 (52%) symptomatic cases. Of these, 76 (45.8%) reported a positive family history and in 21 cases (12.7%) family history was negative. New mutation events were genetically proven in three families and highly suspected in another, estimating that the minimum new mutation rate for HD in our population is .4%, with a potential mutation rate of 8%. More than 16% of all HD cases had late onset (.59 years) of symptoms, and in three quarters of these the family history was negative. The incidence rate for the autonomous communities of Navarra and the Basque country, based on the number of newly diagnosed cases by genetic testing, was 4.7 per million per year. Conclusions: Direct HD genetic testing shows that the incidence and mutation rates of the disease are 2-3 times higher than previously reported. We also demonstrated the relevance of CAG repeat length assessment in diagnosing patients with late onset of symptoms and negative family history for HD.
Esta es la versión de autor del artículo publicado en: This is an author produced version of a paper published in:Acta Otorrinolaringológica Española 67.1 (2016) Abstract Early detection and appropriate treatment of hearing loss are essential to min-imise the consequences of hearing loss. In addition to conventional audiometry (125---8000 Hz), extended high-frequency audiometry (9000---20 000 Hz) is available. This type of audiometry may be useful in early diagnosis of hearing loss in certain conditions, such as the ototoxic effect of cisplatin-based treatment, noise exposure or oral misunderstanding, especially in noisy environments. Eleven examples are shown in which extended high-frequency audiometry has been useful in early detection of hearing loss, despite the subject having a normal conventional audiometry. The goal of the present paper was to highlight the importance of the extended high-frequency audiometry examination for it to become a standard tool in routine audiological examinations. KEYWORDS Extended high-frequency audiometry; Hearing loss; Tinnitus; Presbycusis; CisplatinAudiometría con extensión en altas frecuencias (9.000-20.000 Hz). Utilidad en el diagnóstico audiológicoResumen La detección precoz y el tratamiento adecuado de la hipoacusia es fundamental para minimizar las consecuencias de la pérdida auditiva. Además de la audiometría convencional (125-8.000 Hz), disponemos de la audiometría con extensión en altas frecuencias (9.000-20.000 Hz), que puede ser de gran utilidad en el diagnóstico precoz de hipoacusia en ciertas patologías, como es el efecto ototóxico de los tratamientos quimioterápicos, la exposición a ruido o el mal entendimiento del lenguaje, especialmente en ambientes ruidosos. Aquí se presentan 11 casos clínicos en los que la audiometría con extensión en altas frecuencias ha ayudado en la detección precoz de la hipoacusia en diversas patologías, a pesar de tener una audiometría normal en frecuencias convencionales. Se pretende así destacar la importancia de la exploración audiométrica en altas frecuencias, con el fin de que se convierta en una herramienta habitual en la exploración audiológica PALABRAS CLAVE Audiometría con extensión en altas frecuencias; Hipoacusia; Tinnitus; Presbiacusia; Cisplatino
Esta es la versión de autor del artículo publicado en: This is an author produced version of a paper published in: Experimental and Toxicologic Pathology 68.4 (2016): 197-204 A B S T R A C TIntroduction: Cisplatin is a commonly prescribed drug that produces ototoxicity as a side effect. Lutein is a carotenoid with antioxidant and anti-inflammatory properties previously tested for eye, heart and skin diseases but not evaluated to date in ear diseases.Aim: To evaluate the protective effects of lutein on HEI-OC1 auditory cell line and in a Wistar rat model of cisplatin ototoxicity.Materials and Methods: In vitro study: Culture HEI-OC1 cells were exposed to lutein (2.5-100 mM) and to 25 mM cisplatin for 24 h. In vivo study: Twenty eight female Wistar rats were randomized into three groups. Group A (n = 8) received intratympanic lutein (0.03 mL) (1 mg/mL) in the right ear and saline solution in the left one to determine the toxicity of lutein. Group B (n = 8) received also intraperitoneal cisplatin (10 mg/kg) to test the efficacy of lutein against cisplatin ototoxicity. Group C (n = 12) received intratympanic lutein (0.03 mL) (1 mg/mL) to quantify lutein in cochlear fluids (30 min,1 h and 5 days after treatment). Hearing function was evaluated by means of Auditory Steady-State Responses before the procedure and 5 days after (groups A and B). Morphological changes were studied by confocal laser scanning microscopy.Results: In vitro study: Lutein significantly reduced the cisplatin-induced cytotoxicity in the HEI-OC1 cells when they were pre-treated with lutein concentrations of 60 and 80 mM. In vivo study: Intratympaniclutein (1 mg/mL) application showed no ototoxic effects. However it did not achieve protective effect against cisplatin-induced ototoxicity in Wistar rats.Conclusions: Although lutein has shown beneficial effects in other pathologies, the present study only obtained protection against cisplatin ototoxicity in culture cells, but not in the in vivo model. The large molecule size, the low dose administered, and restriction to diffusion in the inner ear could account for this negative result
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