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https://www.selleckchem.com/products/adt-007.html Congenital myasthenic syndromes (CMS) are genetically determined heterogenous disorders of neuromuscular transmission. We report a rare mutation of COLQ causing CMS in an Asian man that remarkably improved with fluoxetine. A 51-year-old Sri Lankan man with slowly progressive fatigable muscle weakness since eight years of age, presented with type 2 respiratory failure that required mechanical ventilation in the acute crisis and subsequent home-based non-invasive ventilation. His birth and family histories were unremarkable. On examination, he had limb girdle type of muscle weakness with fatigability and normal tendon reflexes with no ocular or bulbar involvement. DNA sequencing revealed a pathogenic homozygous mutation in COLQ gene ENST00000383788.10exon16c.1228C>Tp.R410W, the first report in an Asian. Treatment with fluoxetine resulted in remarkable improvement and regain of muscle power and independence from assisted ventilation. Trauma care per Advanced Trauma Life Support addresses immediate threats to life. Occasionally, delays in injury diagnosis occur. Delayed diagnosis of injury (DDI) is a common quality indicator in trauma care, and pediatric DDI data are sparse. Our aim was to describe the DDI rate in a severely injured pediatric trauma population and identify any factors associated with DDI in the pediatric population. A prospective cohort of trauma activations in 0- to 16-year-old patients admitted to a pediatric level I trauma center over 12months with injuries prospectively recorded were followed during admission to identify DDI. A total of 170 trauma activations were enrolled. Twelve patients had type I DDI (7.1%), 15 patients had type II DDI (8.8%), and 5 patients had both type I and type II DDI (2.9%). DDI patients had twice as many injuries and higher Injury Severity Scores (ISS) as non-DDI patients. DDI patients were more likely to require intensive care unit (ICU) admission, longer hospital stay, a

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