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Otolaryngology, ENT & Sinus News Provided by the California Sinus CentersEtiology of unilateral hearing loss in a national hereditary deafness repository - Corrected ProofApril 26, 2012, 12:00 pm by American Journal of Otolaryngology - Head and Neck Medicine and Surgery - Articles in PressAbstract: Purpose: The aim of this study was to characterize the genetic, audiologic, and epidemiologic characteristics of unilateral hearing loss (HL) in a national hereditary deafness repository.Materials and Methods: This is a prospective clinical study involving 34 subjects identified in a national hereditary deafness repository. Clinical data and family history of HL were obtained on enrollment. Candidate deafness genes were screened by single-stranded conformation polymorphism, and mutations were confirmed with sequencing.Results: Thirty-four subjects (19 males, 15 females) with unilateral HL were identified, ranging in age from 2 months to 36 years. The mean age at diagnosis was 7 years, and the left ear was affected in 62% of the cases. The racial distribution of our sample was 62% white, 23% African American, and 15% Hispanic. Imaging results were available in 47%, and most (69%) were considered normal. Nineteen percent had enlarged vestibular aqueducts, 2 had ipsilateral Mondini dysplasia, and 1 had a common cavity deformity. Twenty subjects (59%) had a family history of HL, with 26% specifically reporting familial unilateral HL. Mutational screening revealed sequence variants in the GJB2 (connexin 26), GJB3 (connexin 31), TECTA, and COCH genes. Two novel mutations were detected in COCH and TECTA.Conclusions: Sequence variants in known deafness genes were detected in more than one-third of our study population, suggesting that gene/gene or gene/environmental interactions may indeed play a role in the etiology of some cases of unilateral deafness. Further prospective studies including congenital cytomegalovirus screening at birth and molecular screening of deafness genes in children with congenital unilateral HL will be required to establish the etiology of unilateral deafness with certainty.
More from American Journal of Otolaryngology - Head and Neck Medicine and Surgery - Articles in Press Predictors of accuracy in preoperative parathyroid adenoma localization using ultrasound and Tc-99m-Sestamibi: A 4-Quadrant Analysis - Corrected Proof American Journal of Otolaryngology - Head and Neck Medicine and Surgery - Articles in Press: June 10, 2013, 12:00 pm Abstract: Purpose: To compare the accuracy of preoperative parathyroid adenoma localization in patients with primary hyperparathyroidism (pHPT) due to a single adenoma using a detailed 4-quadrant analysis and to identify patient and Clinical characteristics associated with isolated unilateral utricular dysfunction - Corrected Proof American Journal of Otolaryngology - Head and Neck Medicine and Surgery - Articles in Press: June 6, 2013, 12:00 pm Abstract: Purpose: The ocular vestibular evoked myogenic potential (oVEMP) represents the sound-induced activation of extraocular muscles and is believed to originate from the utricle and superior vestibular nerve. Isolated unilateral oVEMP abnormalities Incidence trends and long-term survival analysis of sinonasal rhabdomyosarcoma - Corrected Proof American Journal of Otolaryngology - Head and Neck Medicine and Surgery - Articles in Press: June 5, 2013, 12:00 pm Abstract: Purpose: Sinonasal rhabdomyosarcoma (SNRMS) is a rare malignancy which often presents with nasal obstruction, rhinorrhea and epistaxis. It is the most common sarcoma in children. In this study, we analyze the Taste and smell function in chronic disease: A review of clinical and biochemical evaluations of taste and smell dysfunction in over 5000 patients at The Taste and Smell Clinic in Washington, DC - Corrected Proof American Journal of Otolaryngology - Head and Neck Medicine and Surgery - Articles in Press: June 3, 2013, 12:00 pm Abstract: Purpose: To describe systematic methods developed over 40years among over 5000 patients at The Taste and Smell Clinic in Washington, DC to evaluate taste and smell dysfunction.Materials and Methods: A tripartite Management of sinonasal teratocarcinosarcoma: A systematic review - Corrected Proof American Journal of Otolaryngology - Head and Neck Medicine and Surgery - Articles in Press: June 3, 2013, 12:00 pm Abstract: Purpose: Sinonasal teratocarcinosarcoma (SNTCS) is a rare and highly malignant neoplasm that often involves the anterior skull base. This study reviews the published literature related to SNTCS. Clinical presentation, demographics, radiographic
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