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Copy number variation (CNV) is an important cause of neuropsychiatric disorders, but little is known about its role in adults with epilepsy and intellectual disability. In a cross-sectional study of 2335 patients, including 143 adults (mean [SD] age, 24.6 [10.8] years; 69 men and 74 women) with childhood-onset epilepsy and intellectual disability, Borlot and coauthors used a genome-wide microarray for DNA screening and evaluated pathogenic CNVs. Of the 143 patients, 23 probands and 4 affected relatives presented with pathogenic or likely pathogenic CNVs, and 8 nonrecurrent rare CNVs were identified. This study suggests that a genetic approach for adult patients with epilepsy may provide insight into pathobiology.
Although overall incidence rates of stroke are declining in high-income countries, ischemic stroke in young adults has increased in some populations. Gjærde and coauthors investigated a population-based cohort of schoolchildren in Denmark born in 1930 to 1987, with follow-up through national health registers from 1977 to 2012, with height and weight measured at ages 7 to 13 years. In 307 677 Danish individuals (including 8899 individuals with ischemic stroke), children with higher-than-average body mass index values at ages 7 to 13 years and children who increased their body mass index between 7 and 13 years had an increased risk of ischemic stroke at young ages (ie, at 25 to 55 years) but not older ages. Results from Baker and coauthors demonstrate that children with obesity or who were overweight have higher risks of stroke later in life than normal-weight children, highlighting the importance of weight reduction and maintenance for stroke prevention.
Continuing Medical Education
After experiencing an ischemic stroke or transient ischemic attack (TIA), some patients with various features are at high risk for recurrent events. In the Insulin Resistance Intervention After Stroke trial, Kernan and coauthors evaluated 3876 participants (mean [SD] age, 63  years; 2538 men and 1338 women) for up to 5 years for recurrent ischemic stroke or TIA to determine whether a benefit could be found in the administration of pioglitazone. Across 179 clinical sites in 7 countries, 1939 participants were randomly assigned to pioglitazone and 1937 to placebo. This follow-up study showed that taking pioglitazone benefitted high-risk individuals significantly more than lower-risk individuals but was associated with greater risk of bone fracture. This finding sets the stage for targeting insulin resistance in high-risk populations following stroke and TIA. Hankey provides editorial perspective.
Although initial imaging at a referring hospital often indicates that a patient might be eligible for mechanical thrombectomy (MT), infarct progression sometimes precludes MT on arrival. Boulouis and coauthors investigated the clinical and imaging factors associated with infarct progression in 316 patients with ischemic stroke (mean [SD] age, 70.3 [14.2] years; 169 men and 147 women) following transfer from primary hospitals to a thrombectomy-capable stroke center within a regional stroke network. This study showed the importance of adequate leptomeningeal collaterals, over and above time, in determining which patients will no longer benefit from MT on arrival. These findings support the role of vascular imaging and collateral assessment at referral hospitals when considering interhospital transfers for MT. Campbell provides editorial perspective.
Highlights. JAMA Neurol. 2017;74(11):1285. doi:10.1001/jamaneurol.2016.4024
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