The prevalence of mitochondrial mutations associated with aminoglycoside-induced sensorineural hearing loss in an NICU population.

Several mitochondrial DNA variants increase risk for developing sensorineural hearing loss following exposure to aminoglycoside antibiotics, a particular concern in the premature infant population, as many of these babies spend time in neonatal intensive care units and are treated with aminoglycosides. To determine the relative prevalence of five mitochondrial DNA variants in the 12S rRNA gene, MT-RNR1, we genotyped 703 neonatal intensive care unit patients and 1473 individuals from the general Iowa population. We found that the aggregate frequency of these variants (∼1.

Intravenous bisphosphonate therapy in children with osteogenesis imperfecta.

Objective: Several studies have reported beneficial effects of bisphosphonates in children with osteogenesis imperfecta (OI); however, these studies have differed in the protocols they used, and none has been independently replicated. We intended to confirm the efficacy of a specific intravenous bisphosphonate protocol in children with moderate to severe OI.

Methods: We used the protocol described by Glorieux et al and performed a prospective clinical trial in 6 children who were aged 22 months to 14 years.