RESUMEN
Dehiscence of the semicircular canal is an uncommon condition and has been reported to involve the roof of the superior semicircular canal. We describe a case with dehiscence of four semicircular canals and in areas not involving the roof of the superior semicircular canal. Features that assist the diagnosis of this condition are reviewed, along with the current literature.
Asunto(s)
Enfermedades del Oído/patología , Canales Semicirculares/patología , Vértigo/etiología , Enfermedades del Oído/diagnóstico por imagen , Humanos , Masculino , Persona de Mediana Edad , Rotura Espontánea , Canales Semicirculares/diagnóstico por imagen , Tomografía Computarizada por Rayos X , Vértigo/patologíaRESUMEN
We report two cases in which the probands presented with deafness and a family history of a dominantly inherited auditory pigmentary syndrome, yet the cause of deafness in each proband was not associated with the pigmentary abnormalities but was a result of mutations in SLC26A4, the gene mutated in Pendred's syndrome. The first case is a young woman with congenital sensorineural hearing loss and a family history of piebaldism. Despite showing no pigmentary abnormalities, the proband was found to harbor the same KIT mutation as her relatives affected by piebaldism, as well as two mutations in the SLC26A4 gene. In the second case, 2-year-old identical twin boys born to deaf parents presented with congenital sensorineural deafness and an extensive maternal family history of Waardenburg's syndrome type I (WSI). Their father had recessively inherited deafness associated with dilated vestibular aqueducts and a clinical diagnosis of Pendred's syndrome was made in him, which was confirmed molecularly. As the twin boys did not have features of WSI, both the mother and children were tested for mutations in SLC26A4 which showed the mother to be a carrier of a single mutation and both boys to be compound heterozygotes, illustrating pseudodominant inheritance of the condition.
Asunto(s)
Pérdida Auditiva Sensorineural/genética , Piebaldismo/genética , Adulto , Preescolar , Enfermedades en Gemelos , Oído/patología , Femenino , Heterogeneidad Genética , Heterocigoto , Humanos , Masculino , Glicoproteínas de Membrana/genética , Proteínas de Transporte de Membrana/genética , Mutación , Proteínas del Tejido Nervioso/genética , Proteínas Oncogénicas/genética , Proteínas Proto-Oncogénicas c-kit , Proteínas de Transporte de Serotonina en la Membrana Plasmática , Síndrome , Tomografía Computarizada por Rayos X , Síndrome de Waardenburg/genéticaRESUMEN
We studied 209 children, referred to a multi-disciplinary 'Glue ear/Allergy' clinic at our hospital with a history of chronic or recurrent otitis media with effusion (OME), in order to determine the prevalence of atopic disease in this population. Referrals were made either from within the hospital by Ear, Nose and Throat (ENT) Surgeons and Audiological Physicians (internal), or by General Practitioners (external). Assessment of atopic status was based on medical history, physical examination, nasal smears and skin-prick testing (SPT) in all children; and on blood eosinophil counts and total immunoglobulin E (IgE) levels in a randomly selected subset. The main outcome measures were number of children with rhinitis, asthma, eczema, positive SPT, raised IgE level (> 100 IU/l), and nasal and blood eosinophilia. We found allergic rhinitis in 89%, asthma in 36%, and eczema in 24%. SPTs were positive to one or more of eight common inhalant aeroallergens in 57% of children. Blood tests in the selected subset revealed eosinophilia in 40% and a raised serum IgE in 28%. The worldwide prevalence of allergic rhinitis in children has been estimated to be 20%. The 89% prevalence found in this study is very high and there are a number of reasons which suggest that there may be a causal relationship. Whole-population studies will be required to confirm these findings, which could have important therapeutic implications for OME.
Asunto(s)
Hipersensibilidad Inmediata/complicaciones , Otitis Media con Derrame/complicaciones , Alérgenos/inmunología , Asma/epidemiología , Asma/inmunología , Niño , Preescolar , Enfermedad Crónica , Eccema/epidemiología , Eccema/inmunología , Femenino , Humanos , Hipersensibilidad Inmediata/epidemiología , Hipersensibilidad Inmediata/inmunología , Masculino , Prevalencia , Distribución Aleatoria , Rinitis Alérgica Perenne/epidemiología , Rinitis Alérgica Perenne/inmunología , Rinitis Alérgica Estacional/epidemiología , Rinitis Alérgica Estacional/inmunología , Pruebas CutáneasRESUMEN
The effect of a minimally damaging sound exposure and a sub-ototoxic dose of gentamicin on cochlear hair cells contralateral to the sound exposure was evaluated. The cochleae of pigmented guinea pigs exposed to an 8 kHz pure tone at 116 dB SPL for 1 h and/or 50 mg/kg/day of gentamicin for 10 consecutive days and repeated after an interval of 3 weeks, were used for this purpose. Hair cell loss was found to have occurred in the contralateral cochleae following the sound exposure alone. The occurrence of potentiation, synergism and differential synergism between the agents in the contralateral ears was also seen. Possible explanations for these phenomena are proposed.