Genetic and phenotypic heterogeneity in two novel cases of Waardenburg syndrome type IV.

Next generation of the Albira small animal PET based on high density SiPM arrays

A new design of the small animal PET Albira system which detectors are based on arrays of SiPMs and monolithic LYSO scintillator is presented here. The system is made out of 3 rings of 8 detectors each, resulting on an axial and transaxial FOVs of 148 and 80 mm, respectively. The scanner is thermally stabilized using air-cooling. Working temperatures around 22–25°C are reached with individual detector variations around 0.2°C minimizing dark count rates and gain drifts. One of the most significant improvements of the current system is the accurate photon impact determination within the crystal volume, specially its depth of interaction. This allows the calculation of the true line of respons…

Speech perception performance as a function of stimulus pulse rate and processing strategy preference for the Cochlear™ Nucleus®CI24RE device: Relation to perceptual threshold and loudness comfort profiles

Current cochlear implants can operate at high pulse rates. The effect of increasing pulse rate on speech performance is not yet clear. Habituation to low rates may affect the outcome. This paper presents the results of three subsequent studies using different experimental paradigms, applying the Nucleus CI24RE device, and conducted by ten European implant teams. Pulse rate per channel varied from 500 to 3500 pulses per second with ACE and from 1200 to 3500 pps with CIS strategy. The results showed that the first rate presented had little effect on the finally preferred rate. Lower rates were preferred. The effect of pulse rate on word scores of post-linguistic implantees was small; high rat…

Screening of the USH1G gene among Spanish patients with Usher syndrome. Lack of mutations and evidence of a minor role in the pathogenesis of the syndrome.

The Usher syndrome (USH) is an autosomal recessive hereditary disorder characterized by the association of sensorineural hearing loss, retinitis pigmentosa (RP) and, in some cases, vestibular dysfunction. The USH1G gene, encoding SANS, has been found to cause both Usher syndrome type I and atypical Usher syndrome. 109 Spanish unrelated patients suffering from Usher syndrome type I, type II, type III and unclassified Usher syndrome were screened for mutations in this gene, but only eight different changes without a clear pathogenic effect have been detected. Based on these results as well as previous studies in other populations where mutational analysis of this gene has been carried out, on…

Tratamiento de la mastoiditis aguda en niños con implante coclear

Resumen Introduccion La mastoiditis aguda es una complicacion infecciosa otitica que plantea una problematica especifica en el caso de pacientes implantados. Objetivo Revisar los casos de mastoiditis aguda en el programa de implantes cocleares para valorar su incidencia y los problemas asociados. Materiales y metodos Se realizo un estudio retrospectivo en 248 ninos implantados con edades entre los 8 meses y 14 anos desde 1994 hasta 2009 en nuestro programa de implantes cocleares. Se analizan los datos demograficos, clinicos y su tratamiento. Resultados Cinco pacientes desarrollaron mastoiditis aguda (incidencia de 2,01%), 3 de ellos con absceso subperiostico (incidencia de 1,21%), La edad m…

[Peripheral vertigo classification. Consensus document. Otoneurology committee of the Spanish otorhinolaryngology society (2003-2006)].

There are many different vertigo classifications and different denominations are frequently used for the same clinical processes. The Otoneurology Committee of the Spanish Society for Otorhinolaryngology and Head and Neck Pathology proposes an eminently practical classification of peripheral vertigo to facilitate a common terminology that can be easily used by the general ENT practitioners. The methodology used has been by consensus within our Society and especially among the most outstanding work groups in the area of otoneurology in Spain. Initially vertigo is divided into single-episode vertigo and recurring attacks of vertigo, and these are then sub-divided into 2 groups, depending on w…

Treatment of acute mastoiditis in children with cochlear implants

Abstract Introduction Acute mastoiditis (AM) is a paediatric infectious complication that raises a specific problem in case of implanted patients. Objective To review the cases of AM in a paediatric cochlear implant (CI) programme to study its incidence and associated problems. Materials and methods A retrospective study was conducted on 248 children aged between 8 months and 14 years who underwent CI from 1994 to 2009. The demographics, clinical data and their treatment were analyzed. Results Five patients developed acute mastoiditis (2.01%), three of them with subperiosteal abscess (1.21%). The mean age of implantation was 2 years and 4 months, and the complication presented between 1 and…

Clasificación de los vértigos periféricos. Documento de Consenso de la Comisión de Otoneurología de la Sociedad Española de Otorrinolaringología (2003-2006)

El vertigo puede ser clasificado de muchas formas y es frecuente que existan diferentes denominaciones para los mismos cuadros clinicos. Por este motivo la Comision de Otoneurologia de la Sociedad Espanola de Otorrinolaringologia y Patologia Cervico-Facial ha propuesto una clasificacion clinica de los vertigos perifericos eminentemente practica y al alcance del otorrinolaringologo general, que facilite el uso de un lenguaje comun. La metodologia utilizada ha sido procurar el consenso en el ambito de nuestra sociedad y especialmente de los grupos de trabajo mas destacados en el ambito de la otoneurologia en Espana. La clasificacion inicial divide la patologia en vertigos de crisis unica y ve…