Evaluación de los implantes cocleares bilaterales en niños: criterios de indicación de los implantes cocleares en niños y adultos

Implants coclears; Avaluació; Infants; Cochlear Implants; Evaluation; Childrens; Implantes Cocleares; Evaluación; NiñosL’Agència d’Informació, Avaluació i Qualitat en Salut (AIAQS, abans Agència d’Avaluació de Tecnologia i Recerca Mèdiques), va elaborar l’any 2006, per encàrrec del Departament de Salut de la Generalitat de Catalunya, una consulta tècnica (informe d’avaluació breu) sobre els implants coclears (IC), que tenia com a objectius descriure les indicacions clíniques dels IC en adults i nens, així com avaluar la seva seguretat i eficàcia sobre la base de l’evidència científica disponible. Al final del 2009, l’AIAQS va rebre l’encàrrec de la Comissió de Terciarisme del CatSalut d’actualitzar aquesta consulta tècnica analitzant el coneixement científic disponible sobre l’eficàcia/efectivitat i seguretat dels implants coclears bilaterals (ICB) i els criteris d’indicació dels IC en adults i nens

Case report : De novo pathogenic variant in WFS1 causes Wolfram-like syndrome debuting with congenital bilateral deafness

Background: Congenital deafness could be the first manifestation of a syndrome such as in Usher, Pendred, and Wolfram syndromes. Therefore, a genetic study is crucial in this deficiency to significantly improve its diagnostic efficiency, to predict the prognosis, to select the most adequate treatment required, and to anticipate the development of other associated clinical manifestations. Case presentation: We describe a young girl with bilateral congenital profound deafness, who initially received a single cochlear implant. The genetic study of her DNA using a custom-designed next-generation sequencing (NGS) panel detected a de novo pathogenic heterozygous variant in the WFS1 gene related to Wolfram-like syndrome, which is characterized by the presence of other symptoms such as optic atrophy. Due to this diagnosis, a second implant was placed after the optic atrophy onset. The speech audiometric results obtained with both implants indicate that this work successfully allows the patient to develop normal speech. Deterioration of the auditory nerves has not been observed. Conclusion: The next-generation sequencing technique allows a precise molecular diagnosis of diseases with high genetic heterogeneity, such as hereditary deafness, while this was the only symptom presented by the patient at the time of analysis. The NGS panel, in which genes responsible for both syndromic and non-syndromic hereditary deafness were included, was essential to reach the diagnosis in such a young patient. Early detection of the pathogenic variant in the WFS1 gene allowed us to anticipate the natural evolution of the disease and offer the most appropriate management to the patient

Rinometría acústica : criterios de normalidad, correlación rinomanométrica /

Consultable des del TDXTítol obtingut de la portada digitalitzadaIntroduction The acoustic rhinometry (RA) is a nasal complementary exam that allows to measure the cross-sectional areas of the nose in function of the distance. Nowadays is used world-wide and its indications are well established. However, the normal values, indispensable for the valuation of its results in its indications, are not universal and depending on the population where has been obtained and also the selection criteria. Each centre should know its own normal values. Besides, the papers comparing the results obtained with both acoustic rhinometry and rhinomanometry (RNM) have demonstrated a different level of correlation, from no correlation to high. Objectives 1. To establish the rhinometryc normal values in baseline situation in adults, men and women 2. Quantification of the increasing of these normal values in vasoconstriction 3. Study the differences between the normal values in men a women 4. Comparison study between acoustic rhinometry and rinomanometry 4.1 Sensibility and specificity of the anterior rinoscopy, anterior active rhinomanometry and acoustic rhinometry respect the feeling of nasal obstruction and respect the detection of nasal abnormalities 4.2 Concordance among nasal symptom's, nasal exploration and RA/RNM 4.3Creation of a extrapolation model between measurements Results and conclusions 1. Normal values in men I-notch: 0,77 cm2 (IC95%=0,60-0,94) located at 0,18 cm (IC95%=0,04-0,32) from the narine C-notch: 0,56 cm2 (IC95%=0,44-0,68) located at 1,87 cm (IC95%=1,69-2,05) from the narine Volume from the narine to the MCA: 1,75 cm3 (IC95%= 1,38- 2,12) Volume from the narine to the fifth centimetre: 5,17 cm3 (IC95%= 4,12-6,22) Volume from the narine to the seventh centimetre: 8,35 cm3(IC95%=6,51- 10,19) 2. Normal values in women I-notch: 0,55 cm2 (IC95%=0,42-0,68) located from the narine 0,26 cm (IC95%=0,12-0,40) C-notch: 0,47 cm2 (IC95%=0,38-0,56) located at 1,83 cm (IC95%=1,67-2,00) from the narine Volume from the narine to the MCA: 1,29 cm3 (IC95%= 1,06- 1,52) Volume from the narine to the fifth centimetre: 4,35 cm3 (IC95%= 3,53-5,17) Volume from the narine to the seventh centimetre: 7,42 cm3(IC95%=5,99- 8,85) 3. Vasoconstriction effect the vasoconstriction produces an increment of the whole nasal dimensions. The average of increment of the first five centimetres is of 30%. The nasal area that suffers the biggest increment is the cross sectional area at the fourth centimetre, with an average increasing of 55% in men and 39% in women. 4. Height effect The rhinometryc measurements suffer a direct and proportional increment to the height of the person. The nasal dimensions of the tall people is bigger than those of the small people 5. Sensibility and specificity of the anterior active rhinomanometry and acoustic rhinometry respect the feeling of nasal obstruction In our sample, from the point of view of absence or presence of the symptom of nasal obstruction, AR offered more sensibility and lesser specificity than RNM (87,5% Vs 72,5% and 31% Vs 69% respectively). Both had the same absolute value of 71%. From the point of view of the intensity of the symptom and the level of the alteration of the objective prove, both RA and RNM showed similar concordance. Despite of the fact than RNM is more functional, it did not have better correlation. In conclusion it can be said that both are acceptable techniques for the monitorization of the feeling of nasal obstruction. Besides. there are external factors to the techniques that produce that this correlation can not be always complete 6. Sensibility and specificity of the anterior active rhinomanometry and acoustic rhinometry respect the detection of structural nasal obstructions In our sample, from the point of view of absence or presence of the structural nasal obstruction, AR offered more sensibility and lesser specificity than RNM ((93% Vs 75 %; 59% Vs 75% respectively). Both had the same absolute value of 71%. However AR obtained better absolute value than RNM (86% Vs 71%). From the point of view of the intensity of the structural obstruction and the level of the alteration of the objective prove, both RA shoed slightly better correlation.. These results lead to the fact that both techniques are equal in the quantification's of the structural nasal obstruction. 7. Correlation between rhinometric measurements and rhinomanometrics measurements Rhinometric measurements and rhinomanometrics measurements had a statistically significant correlation. The correlation, quantitatively more significant, was established between the volume of the first seven centimetres of the nasal cavity and the airflow at 75 pa of pressure (r2 = 0,29; F= 43,4; p = 0,001). 8. Extrapolation measurements model. It is feasible to design a extrapolation measurements based on a regression model that follows the next formula: Airflow 75 Pa (cc/s)= 37,6 + 27,9 x volume 3 (cc) However the confidence interval between correlation's is too large for that this model has a clinical value 9. Acoustic rhinometry and computed rhynomanometry comparison The different method employed by AR and RNM produces that its measurements and results are not directly comparable. None substitute to the other. Their have a complementary relationship

Mejora del material didáctico jurídico para los alumnos de la Facultad de Economía y Empresa

Memoria ID-008. Ayudas de la Universidad de Salamanca para la innovación docente, curso 2021-2022

Patient-Related Benefits for Adults with Cochlear Implantation : A Multicultural Longitudinal Observational Study

To assess subjectively perceived, real-world benefits longitudinally for unilateral cochlear implant (CI) recipients in a multinational population treated routinely. To identify possible predictors of self-reported benefits. This was a prospective, multicenter, repeated-measures study. Self-assessment of performance at preimplantation and postimplantation at 1, 2, and 3 years using standardized, validated, local language versions of the Speech, Spatial, and Qualities of Hearing Scale (SSQ), and the Health Utilities Index Mark 3 (HUI3) was performed. Outcomes were analyzed using a longitudinal mixed-effects model incorporating country effect. Patient demographics were explored for associations with change over time. Two hundred ninety-one routinely treated, unilateral CI recipients, aged 13-81 years, from 9 clinics across 4 countries. Highly significant improvements were observed for all outcome measures (p < 0.0001). Postimplantation, mean outcome scores remained stable beyond 1 year, with notable individual variability. A significant association for one or more outcomes with preimplantation contralateral hearing aid use, telephone use, age at implantation, implantation side, preimplantation comorbidities, dizziness, and tinnitus was observed (p < 0.004). Longitudinal benefits of CI treatment can be measured using clinically standardized self-assessment tools to provide a holistic view of patient-related benefits in routine clinical practice for aggregated data from multinational populations. Self-reported outcomes can provide medical-based evidence regarding CI treatment to support decision-making by health service providers