ABSTRACT
Introducción: La detección precoz de la hipoacusia permite realizar un tratamiento temprano de los pacientes mejorando significativamente su pronóstico. Con este objetivo se implantó en la Comunidad Valencia el programa de cribado universal de la hipoacusia neonatal. Material y métodos: Se realizó un estudio de los resultados de dicho cribado desde su implantación en enero de 2002 hasta diciembre de 2014, es decir, durante 13 años consecutivos. Posteriormente se revisaron todos los casos que no superaron el cribado. Resultados: La cobertura del cribado alcanzó en pocos años a prácticamente el 100% de la población, con un total de recién nacidos cribados de 14.339. La tasa global de derivación a confirmación fue del 1%, y hubo un 0,7% de pérdidas. Se diagnosticaron 32 casos de hipoacusia neurosensorial (2,23/1.000 recién nacidos). Se estudiaron los casos que no superaron el cribado auditivo, y se halló una asociación entre diferentes variables, como los antecedentes familiares y la edad gestacional, con la presencia de hipoacusia neurosensorial bilateral. Conclusiones: El programa de cribado de la hipoacusia neonatal requiere unos años para su total universalización y cumplir de forma fiable las recomendaciones de la Comisión para la Detección Precoz de la Hipoacusia. Tras estudiar los casos que no superaron el cribado, se propone la edad gestacional como factor de riesgo para el desarrollo de hipoacusia. Asimismo, se considera que los neonatos con malformaciones craneofaciales se beneficiarían de ser remitidos directamente a una prueba de confirmación, así como de la realización de pruebas de imagen, por la alta probabilidad de presentar una patología malformativa asociada en el oído medio. Por otro lado, este ensayo permite recomendar la realización de un estudio cardiológico a los recién nacidos con diagnóstico de hipoacusia neurosensorial bilateral
Introduction: Early detection of hearing loss allows early treatment of these patients by significantly improving their prognosis. With this aim, the universal screening program for neonatal hearing loss was implemented in the Comunidad Valenciana. Material and methods: The results of this screening are studied, from its implementation in January 2002 to December 2014 (13 consecutive years). Subsequently, all the cases that did not pass the screening were reviewed. Results: The coverage of the screening reaches in a few years to practically 100% of the population, with 14339 of newborns being screened. The overall rate of referral to confirmation was 1% and there was 0.7% of losses. Thirty-two cases of neurosensory hearing loss were diagnosed (2.23/1000 newborns). We studied those cases that did not pass the auditory screening, finding an association between different variables such as family history of deafness and gestational age with the presence of bilateral sensorineural hearing loss. Conclusions: The neonatal hearing loss screening program requires a few years to be fully universalized and can reliably fulfill the recommendations of Comisión para la Detección Precoz de la Hipoacusia. After studying those cases that did not exceed the screening, gestational age is proposed as a risk factor for the development of hearing loss. Neonates with craniofacial malformations would also benefit from being referred directly to confirmatory test, as well as from the imaging test, due to the high probability of associated malformative pathology in the middle ear. On the other hand, this study allows the recommendation of a cardiological study to the newborns with diagnosis of bilateral sensorineural hearing loss
Subject(s)
Humans , Infant, Newborn , Hearing Loss, Sensorineural/diagnosis , Early Diagnosis , Neonatal Screening/methods , Gestational Age , Otoacoustic Emissions, SpontaneousABSTRACT
Authors report a new case of osteodisplasty (Melnick-Needles syndrome) and describe radiological findings that are typical of this entity: bony sclerosis of base structures, abnormal dental alignment, sclerosis and irregularity of clavicles and ribs, described as "band-like" deformity, cortical irregularity of tubular bones with metaphyseal flaring and diaphyseal bowing. Flat bones are broadened, particularly iliac crest and vertebral bones. Facial features described by the majority of authors in this entity are present in our patient in an incomplete form: craniofacial disproportion, micrognatia, depressed temples, exophthalmus (not in our patient) and broadened forehead. The paper is intended to gather clinical data of already reported cases in order to facilitate clinical research in the future from the immunological, genetical and biochemical points of view. Our patient has the same clinical history as the patient studied in the original paper. Dr. Melnick was kind enough to send us clinical data and autopsy findings.
