The Journal of pediatrics
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The Journal of pediatrics · Aug 2013
Case ReportsSimultaneous colonic adenocarcinoma and medulloblastoma in a 12-year-old with biallelic deletions in PMS2.
We describe a 12-year-old girl, simultaneously presenting with colonic adenocarcinoma and medulloblastoma from bialleic deletions in the mismatch repair gene PMS2. Her distinctive physical and clinical findings are characteristic of constitutional mismatch repair deficiency syndrome. Earlier recognition of such findings may permit better screening and more effective treatment.
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The Journal of pediatrics · Aug 2013
ReviewMedication-related emergency department visits and hospital admissions in pediatric patients: a qualitative systematic review.
To review and describe the current literature pertaining to the incidence, classification, severity, preventability, and impact of medication-related emergency department (ED) and hospital admissions in pediatric patients. ⋯ Medication-related ED visits and hospital admissions are common in pediatric patients, many of which are preventable. These ADEs result in significant healthcare utilization.
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The Journal of pediatrics · Aug 2013
Case ReportsDedicated retinal examination in children evaluated for physical abuse without radiographically identified traumatic brain injury.
To determine the rate of retinal hemorrhages in children evaluated for physical abuse without traumatic brain injury (TBI) by diagnostic imaging. ⋯ Forensically significant retinal hemorrhages are unlikely to be found in children evaluated for physical abuse without TBI on neuroimaging, and such children may not require routine dedicated retinal examination.
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The Journal of pediatrics · Aug 2013
Cerebral and peripheral regional oxygen saturation during postnatal transition in preterm neonates.
To evaluate peripheral regional oxygen saturation (rpSO₂) and cerebral regional oxygen saturation (rcSO₂) during the immediate postnatal transition in late preterm infants with and without the need for respiratory support. ⋯ This systematic analysis of rpSO₂, rcSO₂, and cFTOE in late preterm infants found significantly lower oxygen saturation values in infants who received respiratory support compared with a normal transition group. We hypothesize that the elevated cFTOE values in the respiratory support group represent compensation for lower oxygen delivery.
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The Journal of pediatrics · Aug 2013
Multicenter StudyBereaved parents' intentions and suggestions about research autopsies in children with lethal brain tumors.
To determine bereaved parents' perceptions about participating in autopsy-related research and to elucidate their suggestions about how to improve the process. ⋯ Because autopsy can help advance scientific understanding of the disease itself and because parents reported having no regret and even cited benefits, researchers should be encouraged to continue autopsy-related research. Parental perceptions about such studies should be evaluated in other types of pediatric diseases.