Gene Mutations: One of the Many Roads to Deafness

Deafness, a pathological condition causing partial or complete loss of hearing, affects nearly 70 million people worldwide. Research has linked nonsyndromic deafness to over 30 genes. In this review, implications of mutations on four of these genes will be discussed to understand how normal function is altered. While various mutations are linked to deafness, little is known about the mechanisms that lead to deafness. MyosinVI mutations hinder the motor protein’s progressive movement, rendering the protein unable to stabilize stereocilia. Point mutations in PMCA2 gene in outer hair cells (OHCs) cause a defect in the calcium pump, leading to a change in calcium concentration in the cell and loss of hearing and imbalance. Mutations on the KCNQ4 gene in the OHCs cause K+ channel malfunction, ceasing the removal of K+ and inhibiting repolarization, thus leading to degeneration of the cell. Connexin 26 mutations lead to destruction and degradation of critical components within the inner ear, as well as problems with gap junction communication. These mutations cause autosomal recessive deafness. Currently, there is no cure for deafness, but development of treatments such as cochlear implants and other electrical systems can improve the quality of hearing. Identification and a deeper understanding of new genetic mutations can enhance treatments

Differences in designations of observation care in US freestanding children's hospitals: Are they virtual or real?

OBJECTIVE: To characterize practices related to observation care and to examine the current models of pediatric observation medicine in US children's hospitals. DESIGN: We utilized 2 web‐based surveys to examine observation care in the 42 hospitals participating in the Pediatric Health Information System database. We obtained information regarding the designation of observation status, including the criteria used to admit patients into observation. From hospitals reporting the use of observation status, we requested specific details relating to the structures of observation care and the processes of care for observation patients following emergency department treatment. RESULTS: A total of 37 hospitals responded to Survey 1, and 20 hospitals responded to Survey 2. Designated observation units were present in only 12 of 31 (39%) hospitals that report observation patient data to the Pediatric Health Information System. Observation status was variably defined in terms of duration of treatment and prespecified criteria. Observation periods were limited to <48 hours in 24 of 31 (77%) hospitals. Hospitals reported that various standards were used by different payers to determine observation status reimbursement. Observation care was delivered in a variety of settings. Most hospitals indicated that there were no differences in the clinical care delivered to virtual observation status patients when compared with other inpatients. CONCLUSIONS: Observation is a variably applied patient status, defined differently by individual hospitals. Consistency in the designation of patients under observation status among hospitals and payers may be necessary to compare quality outcomes and costs, as well as optimize models of pediatric observation care. Journal of Hospital Medicine 2012;. © 2011 Society of Hospital Medicine.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/91108/1/949_ftp.pd