Frontiers in pediatrics
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Frontiers in pediatrics · Jan 2020
Whole Exome Sequencing Identifies Three Novel Mutations in the ASPM Gene From Saudi Families Leading to Primary Microcephaly.
Autosomal recessive primary microcephaly (MCPH) is a neurodevelopmental defect that is characterized by reduced head circumference at birth along with non-progressive intellectual disability. Till date, 25 genes related to MCPH have been reported so far in humans. The ASPM (abnormal spindle-like, microcephaly-associated) gene is among the most frequently mutated MCPH gene. ⋯ Lys1875Glu) in exon 18 of the ASPM gene underlying the disorder. The identified respective mutations were ruled out in 100 healthy control samples. In conclusion, we found three novel mutations in the ASPM gene in Saudi families that will help to establish a disease database for specified mutations in Saudi population and will further help to identify strategies to tackle primary microcephaly in the kingdom.
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Frontiers in pediatrics · Jan 2020
Pediatric Critical Care and the Climate Emergency: Our Responsibilities and a Call for Change.
Critical care is perhaps one of the most "climate-intensive" divisions of health care. As greenhouse gas emissions continue to rise, the unprecedented threat of climate change has belatedly prompted an increased awareness of critical care's environmental impact. Within our role as pediatric critical care providers, we have a dual responsibility not only to care for children at their most vulnerable, but also to advocate on their behalf. ⋯ From increasing wildfires and their effect on lung health, to the spread of vector-borne diseases such as dengue, and the increased migration of children due to a changing climate, the effects of a changing climate are here, and we are beginning to see the changing epidemiology of pediatric critical illness. Ensuring that the effects of ongoing changes are minimized, including its future effects on child health, requires a multifaceted approach. As part of this review, we will use the Lancet Countdown on Climate Change indicators to explore the impact of pediatric critical care on climate change and the inevitable influence climate change will have on the future practice of pediatric critical care globally.