Mapping genes for nonsyndromic hereditary hearing impairment may lead to identification of genes that are essential for the development and preservation of hearing. We studied a family with autosomal dominant, progressive, low frequency sensorineural hearing loss. Linkage analysis employing microsatellite polymorphic markers revealed a fully linked marker (D4S126) at 4p16.3, a gene-rich region containing IT15, the gene for Huntington's disease (HD). For D4S126, the logarithm-of-odds (lod) score was 3.64 at theta = 0, and the overall maximum lod score was 5.05 at theta = 0.05 for D4S412. Analysis of recombinant individuals maps the disease gene to a 1.7 million base pair (Mb) region between D4S412 and D4S432. Genes for two types of mutant mice with abnormal cochleovestibular function, tilted (tlt) and Bronx waltzer (bv), have been mapped to the syntenic region of human 4p16.3 on mouse chromosome 5. Further studies with the goals of cloning a gene for autosomal nonsyndromic hearing impairment and identifying the murine homologue may explain the role of this gene in the development and function of the cochlea.

Dominant LFSNHL is most commonly caused by mutations in the Wolfram syndrome type 1 gene (WFS1). Mutations in WFS1 also cause a rare recessive syndromic form of hearing loss known as Wolfram syndrome or DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness). Routine newborn hearing screening methods will not typically identify hearing loss affecting frequencies below 2000 Hz; thus, children at risk must be specifically monitored. Genetic counseling and genetic testing may be useful in the management of patients with this type of hearing loss.

Advances in critical care and surgical management have significantly improved survival after burn injury over the past several decades. However, today, survival alone is an insufficient outcome. In 1994, the National Institute on Disability and Rehabilitation Research (NIDRR) created a burn model system program to evaluate the long-term sequelae of burn injuries. As part of this multicenter program, a comprehensive demographic and outcome database was developed to facilitate the study of a number of functional and psychosocial outcomes after burns. The purpose of this study is to review the database design and structure as well as the data obtained during the last 10 years. This is a descriptive study of the NIDRR database structure as well as the patient data obtained from the four participating burn centers from 1994 to 2004. Data obtained during hospitalization and at 6, 12, and 24 months after discharge were reviewed and descriptive statistics were calculated for select database fields. The database is divided into several subsections, including demographics, injury complications, patient disposition, and functional and psychological surveys. A total of 4600 patients have been entered into the NIDRR database. To date, 3449 (75%) patients were alive at discharged and consented to follow-up data collection. The NIDRR database provides an expansive repository of patient, injury, and outcome data that can be used to analyze the impact of burn injury on physical and psychosocial function and for the design of interventions to enhance the quality of life of burn survivors.