0000000000624076
AUTHOR
Carlos De Paula-vernetta
showing 5 related works from this author
The Role of Diffusion-Weighted Magnetic Resonance Imaging in Cholesteatoma Diagnosis and Follow-up: Study With the Diffusion PROPELLER Technique
2012
Abstract Introduction and objectives The diagnosis of cholesteatoma is based on clinical evaluation and computed tomography. New non-echo-planar diffusion-weighted magnetic resonance imaging (MRI) techniques, without intravenous contrast, are capable of differentiating cholesteatoma from inflammatory tissue, cholesterol granuloma and granulation tissues. The technique is very helpful in differential diagnosis of cholesteatoma, mainly after canal wall-up tympanoplasty surgery, to avoid routine second-look surgery in these patients. Congenital cholesteatoma and difficult cases can be detected and correctly diagnosed as well. The aim of this study was to evaluate sensitivity, specificity, posi…
Papel de la resonancia magnética de difusión en el diagnóstico y seguimiento del colesteatoma. Estudio con la técnica PROPELLER difusión
2012
Resumen Introduccion y objetivos El diagnostico del colesteatoma se basa en los hallazgos clinicos y en la tomografia computarizada. Actualmente, con las nuevas tecnicas de resonancia magnetica potenciada en difusion no ecoplanares, sin necesidad de contraste intravenoso, es posible diferenciar entre colesteatoma y tejido de granulacion o inflamatorio. Por ello, esta tecnica muestra su maxima utilidad en la valoracion de recidivas de colesteatoma tras timpanoplastias, sobre todo en tecnicas cerradas, ya que puede evitar un alto porcentaje de cirugias de revision. Otras indicaciones de la tecnica son los casos de diagnostico complejo y el colesteatoma congenito. El objetivo de este estudio e…
Audiological Findings in Children With Mucopolysaccharidoses Type I–IV
2017
Abstract Objective The aim of our study is to reflect hearing impairment of 23 children diagnosed with mucopolysaccharidosis (MPS) type I, II, III and IV. Methods Retrospective study of the clinical, audiological and treatment (medical vs surgical) findings of 23 children diagnosed with MPS type I, II, III and IV followed at a Tertiary Referral Hospital between 1997 and 2015. Results Six cases of MPS I, 8 of MPS II, 4 of MPS III and 5 of MPS IV were reviewed. 71.2% of patients had secretory otitis media (SOM) and 54% of patients had some type of hearing loss (HL). The behaviour of hearing loss was variable in each of the subgroups of MPS, finding greater involvement and variability in types…
Improving the Management of Patients with Hearing Loss by the Implementation of an NGS Panel in Clinical Practice
2020
A cohort of 128 patients from 118 families diagnosed with non-syndromic or syndromic hearing loss (HL) underwent an exhaustive clinical evaluation. Molecular analysis was performed using targeted next-generation sequencing (NGS) with a custom panel that included 59 genes associated with non-syndromic HL or syndromic HL. Variants were prioritized according to the minimum allele frequency and classified according to the American College of Medical Genetics and Genomics guidelines. Variant(s) responsible for the disease were detected in a 40% of families including autosomal recessive (AR), autosomal dominant (AD) and X-linked patterns of inheritance. We identified pathogenic or likely pathogen…
Hallazgos audiológicos en niños con mucopolisacaridosis tipos i - iv
2017
Resumen Objetivo Revision y descripcion de la afectacion otoaudiologica en el seguimiento de 23 ninos con diagnostico de mucopolisacaridosis (MPS) tipo I , II , III y IV . Metodos Estudio retrospectivo de los hallazgos clinicos, audiologicos y tratamiento (medico y/o quirurgico) de 23 ninos con diagnostico de MPS tipo I , II , III o IV en seguimiento en un hospital terciario entre 1997 y 2015. Resultados Seis casos de MPS I , 8 de MPS II , 4 de MPS III y 5 de MPS IV fueron revisados. Al inicio del seguimiento el 71,2% de los pacientes presentaban otitis media serosa (OMS) y el 54% de los casos presentaban algun tipo de hipoacusia. El comportamiento de la hipoacusia fue fluctuante en c…