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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)
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 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)
OBJECTIVE We hypothesized that resident fatigue error should improve, related to well-rested trainees as a direct cause/effect benefit. However, patient hospital care quality is multifactorial, so impact on patient care quality by changing only one variable for a single caregiver group was unknown. DESIGN AND PARTICIPANTS Convenience samples of 156(More)
Norrie's disease is an x-linked recessive disorder characterized by progressive oculoacousticocerebral degeneration. The light and electron microscopic changes in the temporal bones, eyes, and brain of an affected 77-year-old man who suffered from bilateral profound sensorineural hearing loss, blindness, and mental retardation are described. The inner ears(More)
This chapter highlights important aspects concerning surgical indications and preoperative preparation related to surgical management of otitis media in children. The concept of chronic otitis media (COM) has been widely discussed (Chart 1). Some authors advocate that the definition of chronicity should be related to the histopathological changes that occur(More)
OBJECTIVE A previous pilot series described a hybrid mastoidectomy technique, canal wall window (CWW), which substituted for the canal wall down (CWD) procedure and involved slitting the posterior canal wall. The current, larger series compares the results of the CWW procedure with conventional surgical techniques. STUDY DESIGN Retrospective analysis of(More)
The proband, a French-Canadian white boy, presented with congenital sensory polyneuropathy, moderate to severe sensorineural hearing loss, infantile cataracts, nystagmus, esotropia, unusual facies, hypotonia, bilateral congenital hip dysplasia, delayed ossification of the femoral heads, scoliosis, short stature secondary to growth hormone deficiency, and(More)
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