RESUMEN
OBJECTIVE: Soto's syndrome is a genetic disorder caused by mutations in the NSD1 gene. It is characterized by excessive growth in early life. It features craniofacial abnormalities, developmental delay, hypotonia and advanced bone age. A review of the current literature reveals only chronic otitis media and conductive hearing loss as otolaryngologic manifestations of Soto's syndrome. Our objective was to determine if there are additional manifestations relevant to the otolaryngologist. METHODS: We performed a retrospective case series in which the Department of Defense electronic medical record was searched for ICD 9 code 253.0 (acromegaly/gigantism). Records were reviewed for genetic testing indicative of Soto's syndrome. These records were further analyzed for evidence of otolaryngologic problems. RESULTS: Seventeen patients were identified with five having confirmed NSD1 mutations consistent with Soto's syndrome. Of these, 4/5 had otolaryngologic problems such as conductive hearing loss, aspiration, laryngomalacia, obstructive sleep apnea and sensorineural hearing loss. CONCLUSIONS: Currently there is no description in the literature of these additional manifestations of Soto's syndrome. We present this case series to support the idea that an otolaryngologist should be involved in the multidisciplinary care required for these patients.
Asunto(s)
Predisposición Genética a la Enfermedad/epidemiología , Enfermedades Otorrinolaringológicas/epidemiología , Síndrome de Sotos/epidemiología , Adolescente , Distribución por Edad , Causalidad , Niño , Preescolar , Estudios de Cohortes , Comorbilidad , Bases de Datos Factuales , Femenino , Pérdida Auditiva Conductiva/epidemiología , Pérdida Auditiva Conductiva/fisiopatología , Pérdida Auditiva Sensorineural/epidemiología , Pérdida Auditiva Sensorineural/fisiopatología , Humanos , Incidencia , Laringomalacia/epidemiología , Laringomalacia/fisiopatología , Masculino , Enfermedades Otorrinolaringológicas/genética , Neumonía por Aspiración/epidemiología , Neumonía por Aspiración/fisiopatología , Pronóstico , Estudios Retrospectivos , Medición de Riesgo , Índice de Severidad de la Enfermedad , Distribución por Sexo , Apnea Obstructiva del Sueño/epidemiología , Apnea Obstructiva del Sueño/fisiopatología , Síndrome de Sotos/diagnóstico , Síndrome de Sotos/genéticaRESUMEN
OBJECTIVES/HYPOTHESIS: Monopolar cautery is the most commonly used technique for tonsillectomy. The aim of the present study is to compare postoperative pain using a new technology, PlasmaKnife tonsillectomy (PKT), in comparison with monopolar cautery tonsillectomy (MCT). STUDY DESIGN: Prospective, randomized, single-blinded, self-controlled study using paired organs. METHODS: Thirty-two adult patients, aged 18 to 30 years, scheduled for tonsillectomy for recurrent tonsillitis were included. Patients were randomly assigned to undergo PKT on one side and MCT on the opposite side. The primary outcome was self-rated daily pain assessed by using a 10-point scale. Patients were provided 21-day pain diaries and were phoned twice weekly by a research assistant to assess pain and remind them to complete diaries. Secondary outcomes included comparisons of operative time, blood loss, and postoperative complications. RESULTS: Repeated measures analysis of variance comparing PKT to MCT during the 21-day postoperative period revealed no difference in postoperative pain between the two groups (P = .131). In addition, total operative time (P = .276) and blood loss (P = .418) did not differ significantly between PKT and MCT. CONCLUSIONS: Adult subjects undergoing PKT do not experience less postoperative pain in comparison to MCT.