Pediatrics
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In some centers, dedicated ophthalmologic examination is performed for all children who are evaluated for potential physical abuse. Although retinal hemorrhages have been reported in rare cases of abused children with normal neuroimaging results, the utility of ophthalmologic examination in this group is currently unknown. The objective of this study was to determine the prevalence of retinal hemorrhages in children younger than 2 years who were evaluated for physical abuse and who had no evidence of traumatic brain injury (TBI) on neuroimaging. ⋯ In children younger than 2 years being evaluated for physical abuse without radiographic evidence of brain injury, retinal hemorrhages are rare. Dedicated ophthalmologic examination should not be considered mandatory in this population.
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Molybdenum cofactor deficiency (MoCD) is a rare metabolic disorder characterized by severe and rapidly progressive neurologic damage caused by the functional loss of sulfite oxidase, 1 of 4 molybdenum-dependent enzymes. To date, no effective therapy is available for MoCD, and death in early infancy has been the usual outcome. We report here the case of a patient who was diagnosed with MoCD at the age of 6 days. ⋯ We demonstrate efficient uptake of cPMP and restoration of molybdenum cofactor-dependent enzyme activities. Further neurodegeneration by toxic metabolites was stopped in the reported patient. We also demonstrated the feasibility to detect MoCD in newborn-screening cards to enable early diagnosis.
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The objective of this study was to calculate injury rates and describe the epidemiology of holiday-related injuries among children who were aged < or =19 years and presented to US emergency departments (EDs) from 1997 through 2006. ⋯ Most injuries that were sustained on holidays and required ED treatment were not holiday-specific but were associated with more general activities. Parents should be aware that holidays present a risk not only for holiday-specific injuries but also for more general, "everyday" injuries.