Roland D Eavey

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Tetralogy of Fallot (TOF), the most common severe congenital heart malformation, occurs sporadically, without other anomaly, and from unknown cause in 70% of cases. Through a genome-wide survey of 114 subjects with TOF and their unaffected parents, we identified 11 de novo copy number variants (CNVs) that were absent or extremely rare (<0.1%) in 2,265(More)
CONTEXT Hearing loss is common and, in young persons, can compromise social development, communication skills, and educational achievement. OBJECTIVE To examine the current prevalence of hearing loss in US adolescents and determine whether it has changed over time. DESIGN Cross-sectional analyses of US representative demographic and audiometric data(More)
DFNA9 is an autosomal dominant, nonsyndromic, progressive sensorineural hearing loss with vestibular pathology. Here we report three missense mutations in human COCH (previously described as Coch5b2), a novel cochlear gene, in three unrelated kindreds with DFNA9. All three residues mutated in DFNA9 are conserved in mouse and chicken Coch, and are found in a(More)
BACKGROUND The Björnstad syndrome, an autosomal recessive disorder associated with sensorineural hearing loss and pili torti, is caused by mutation of a previously unidentified gene on chromosome 2q34-36. METHODS Refined genetic mapping and DNA sequencing of 44 genes between D2S2210 and D2S2244 revealed BCS1L mutations. Functional analyses elucidated how(More)
OBJECTIVE Many adolescents and young adults consciously expose themselves to loud music for entertainment. We hypothesized that these individuals might not be aware that exposure to loud music could result in hearing loss. Furthermore, we wished to assess the feasibility of a web-based survey to collect health information from this group. METHODS A(More)
BACKGROUND Dilated cardiomyopathy (DCM) and sensorineural hearing loss (SNHL) are prevalent disorders that occur alone or as components of complex multisystem syndromes. Multiple genetic loci have been identified that, when mutated, cause DCM or SNHL. However, the isolated coinheritance of these phenotypes has not been previously recognized. METHODS AND(More)
BACKGROUND Deafness and handicapping sensorineural hearing impairment occur frequently in neonatal intensive care unit survivors for unknown reasons. PATIENTS AND METHODS Hearing was tested early and repeatedly in neonatal intensive care unit patients with an auditory brainstem response (ABR) screener. The temporal bones of 15 nonsurvivors (30 ears) were(More)
Otitis media is an extremely common pediatric inflammation of the middle ear that often causes pain and diminishes hearing. Vulnerability to otitis media is due to eustachian tube dysfunction as well as other poorly understood factors, including genetic susceptibility. As EYA4 mutations cause sensorineural hearing loss in humans, we produced and(More)
Nasal septal abscesses are uncommon. Sixteen cases from the Massachusetts Eye and Ear Infirmary were reviewed retrospectively and are presented. The diagnosis, bacteriology, and pathophysiology are discussed. Immediate therapy is indicated to avoid cosmetic deformity or intracranial infection. Treatment is based on diagnostic needle aspiration, antibiotic(More)
In the repair of cartilage defects, autologous tissue offers the advantage of lasting biocompatibility. The ability of bovine chondrocytes isolated from hyaline cartilage to generate tissue-engineered cartilage in a predetermined shape, such as a human ear, has been demonstrated; however, the potential of chondrocytes isolated from human elastic cartilage(More)