Avances en el diagnóstico molecular y en el tratamiento de los gliomas de bajo grado en la edad pediátrica

Tesis doctoral inédita leída en la Universidad Autónoma de Madrid, Facultad de Medicina, Departamento de Pediatría. Fecha de lectura: 12-09-2017Esta tesis tiene embargado el acceso al texto completo hasta el 12-03-201

Validation of the Spanish version of the electronic facial palsy assessment (eFACE)

Purpose The clinician-graded electronic facial paralysis assessment (eFACE) is a relatively new digital tool for assessing facial palsy. The present study aimed to determine the validity and reliability of the Spanish version of the eFACE. Methods Forward–backward translation from the original English version was performed. Videos and photographs from 65 adult patients with unilateral facial paralysis (any severity, time course, and etiology) were evaluated twice by fve otolaryngologists with varying levels of experience in facial palsy evaluation. Internal consistency was measured using Cronbach’s α and the intra- and inter-rater reliability were measured using intraclass correlation coefcient. Concurrent validity was established by calculating Spearman’s rho correlation (ρ) between the eFACE and the House–Brackmann scale (H–B) and Pearson’s correlation (r) between the eFACE and the Sunnybrook Facial Grading System (SFGS). Results The Spanish version of the eFACE showed good internal consistency (Cronbach’s α>0.8). The intra-rater reliability was nearly perfect for the total score (intraclass correlation coefcient: 0.95–0.99), static score (0.92–0.96), and dynamic score (0.96–0.99) and important-to-excellent for synkinesis score (0.79–0.96). The inter-rater reliability was excellent for the total score (0.85–0.93), static score (0.80–0.90), and dynamic score (0.90–0.95) and moderate-to-important for the synkinesis score (0.55–0.78). The eFACE had a very strong correlation with the H–B (ρ= – 0.88 and – 0.85 for each evaluation, p<0.001) and the SFGS (r=0.92 and 0.91 each evaluation, p<0.001). Conclusion The Spanish version of the eFACE is a reliable and valid instrument for assessment of facial function in the diagnosis and treatment of patients with facial paralysisThis research was funded by a grant (PI20/01032) from Programa Estatal de Generación de Conocimiento y Fortalecimiento del Sistema Español de I+D+I, Instituto de Salud Carlos III, Spain. The authors report no involvement in the research by the sponsor that could have infuenced the outcome of this wor

Effect of cochlear implantation on cognitive decline and quality of life in younger and older adults with severe-to-profound hearing loss

Purpose: (a) To measure the change in cognition, the improvement of speech perception, and the subjective benefit in people under and over 60 years following cochlear implantation. (b) To assess the relationship between cognition, demographic, audiometric, and subjective outcomes in both age groups. Methods: 28 cochlear implant (CI) users were assigned to the < 60y group and 35 to the ≥ 60y group. Cognition was measured using the Repeatable Battery for the Assessment of Neuropsychological Status for Hearing impaired individuals (RBANS-H); subjective benefit was measured using the Nijmegen Cochlear Implant Questionnaire (NCIQ); the Glasgow Benefit Inventory (GBI); the Hearing Implant Sound Quality Index (HISQUI19); Speech, Spatial and Qualities of Hearing Scale (SSQ12); and the Hospital Anxiety and Depression Scale (HADS). Results: Prior to surgery: the RBANS-H total score positively correlated with the domains “Advanced sound”, “Self-esteem”, and “Social functioning” of NCIQ, and negatively with HADS scores. 12 months post-implantation: the RBANS-H total score increased in the < 60y (p = 0.038) and in the ≥ 60y group (p < 0.001); speech perception and subjective outcomes also improved; RBANS-H total score positively correlated with “Self-esteem” domain in NCIQ. Age and the RBANS-H total score correlated negatively in the ≥ 60y group (p = 0.026). Conclusions: After implantation, both age groups demonstrated improved cognition, speech perception and quality of life. Their depression scores decreased. Age was inversely associated with cognition.This work was supported by a grant (PI16/00079) from Programa Estatal de Generación de Conocimiento y Fortalecimiento del Sistema Español de I+D+I, ISCiii, Spain. The authors would like to thank the subjects for their participation, and Angelina Gurkina for their medical writer assistanc

Estudio morfométrico de las malformaciones craneofaciales experimentales inducidas por ácido retinoico

Abstract: Objective: Retinoic acid is an active metabolite of Vitamin A that is teratogenic when present in excess during mammalian embriogenesis. We have investigated the effects of early exposure of rat embryos to retinoic acid on craniofacial structures. Design: Treatment of 45 pregnant Sprague-Dawley rats with 125mg./Kg all-trans-retinoic acid on pregnancy day 10 was performed. Twenty controls were treated only with oil. The fetuses were recovered the day before term, and both morphologic and morphometric analyses of the craniofacial structures were performed. Results: None of the control fetuses had malformations. Craniofacial defects were observed in 100% of the retinoic embryos including facial clefts, proptosis, abnormalities and inferior placement of the pinnae, skin tags, and nasal anomalies. Morphometric analyses revealed an increased distance between nasal pores (p<0,01) and between both eyes (p<0,05) in retinoic embryos. A reduced distance of the maxilla (p<0,01) and the mandible (p<0,01) were also noted. Conclusions: Morphologic and morphometric studies confirm the hypothesis that retinoic acid disturbs normal craniofacial development when administered during a critical period. Hindrance of migration of the cranial neural crest cells may be a main reason to explain these events.Resumen: Objetivo: El ácido retinoico es un metabolito activo de la vitamina A que administrado en grandes cantidades tiene efecto teratógeno sobre la embriogénesis de los mamíferos. Hemos investigado los efectos de la exposición temprana de embriones de rata sobre las estructuras craneofaciales. Diseño: Cuarenta y cinco ratas Sprague-Dawley gestantes fueron tratadas con 125 mg/kg de ácido all-trans-retinoico el día 10 de gestación. Las 20 ratas controles fueron tratadas con aceite. Los fetos de ambos grupos se extrajeron el día antes de llegar a término y fueron sometidos a un estudio morfológico y otro estudio morfométrico, analizando las malformaciones craneofaciales. Resultados: Ninguno de los fetos controles presentó malformaciones. El 100% de los embriones tratados con retinoico presentaron defectos craneofaciales, incluyendo fisuras faciales, exoftalmos, malformaciones e inserción baja de los pabellones auriculares, apéndices faciales y anomalías nasales. El análisis morfométrico reveló un incremento de la distancia entre los poros nasales (p<0,01) y los globos oculares (p<0,05) en los fetos tratados con retinoico. También se encontró una reducción de la distancia lateral del maxilar (p<0,01) y la mandíbula (p<0,01). Conclusiones: Tanto el estudio morfológico como el estudio morfométrico confirman la hipótesis según la cual el ácido retinoico altera el desarrollo craneofacial cuando se administra durante un momento crítico del desarrollo embrionario. Una alteración en la migración de las células de la cresta neural craneal podría ser la razón que explicaría estas anomalías