104 research outputs found

    ENIGMA and global neuroscience: A decade of large-scale studies of the brain in health and disease across more than 40 countries

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    This review summarizes the last decade of work by the ENIGMA (Enhancing NeuroImaging Genetics through Meta Analysis) Consortium, a global alliance of over 1400 scientists across 43 countries, studying the human brain in health and disease. Building on large-scale genetic studies that discovered the first robustly replicated genetic loci associated with brain metrics, ENIGMA has diversified into over 50 working groups (WGs), pooling worldwide data and expertise to answer fundamental questions in neuroscience, psychiatry, neurology, and genetics. Most ENIGMA WGs focus on specific psychiatric and neurological conditions, other WGs study normal variation due to sex and gender differences, or development and aging; still other WGs develop methodological pipelines and tools to facilitate harmonized analyses of "big data" (i.e., genetic and epigenetic data, multimodal MRI, and electroencephalography data). These international efforts have yielded the largest neuroimaging studies to date in schizophrenia, bipolar disorder, major depressive disorder, post-traumatic stress disorder, substance use disorders, obsessive-compulsive disorder, attention-deficit/hyperactivity disorder, autism spectrum disorders, epilepsy, and 22q11.2 deletion syndrome. More recent ENIGMA WGs have formed to study anxiety disorders, suicidal thoughts and behavior, sleep and insomnia, eating disorders, irritability, brain injury, antisocial personality and conduct disorder, and dissociative identity disorder. Here, we summarize the first decade of ENIGMA's activities and ongoing projects, and describe the successes and challenges encountered along the way. We highlight the advantages of collaborative large-scale coordinated data analyses for testing reproducibility and robustness of findings, offering the opportunity to identify brain systems involved in clinical syndromes across diverse samples and associated genetic, environmental, demographic, cognitive, and psychosocial factors

    Supplementary Material for: Determinants of Basal Collaterals in Moyamoya Disease: Clinical and Genetic Factors

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    <b><i>Background/Aims:</i></b> To enable the diagnosis of moyamoya disease (MMD), detection of distal internal carotid artery stenosis and hazy network of basal collaterals (BCs) are required. This study aimed at evaluating the factors that could determine the degree of BCs in patients with angiographically confirmed MMD. <b><i>Methods:</i></b> We analyzed 146 consecutive patients with MMD (age 26.2 ± 19.6, range 1-75). The degree of BCs (%) was measured based on conventional angiography. Factors associated with the degree of BCs, including clinico-radiological and genetic factors (p.Arg4810Lys variant), were analyzed. <b><i>Results:</i></b> The degree of BCs varied among MMD patients and significantly decreased with an increase in the age of diagnosis of MMD (coefficient -1.55; p < 0.001). Although the degree of BC development depends on the MMD stage (Suzuki stage), it is less prominent in adult-onset (>18 years) MMD compared to childhood MMD. The presence of p.Arg4810Lys variant, types of MMD (bilateral vs. unilateral) and stroke (ischemic, hemorrhagic, or asymptomatic), shrinkage (outer diameter) of intracranial vessels, external carotid collateral status, and cortical neovascularization were not associated with the degree of BCs. <b><i>Conclusion:</i></b> Although prominent BCs are required for diagnosis of MMD, BCs are decreased with aging, suggesting that angiogenic capacity is altered in adult onset MMD compared to childhood MMD

    Pulse shape discrimination capability of metal-loaded organic liquid scintillators for a short-baseline reactor neutrino experiment

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    A new short-baseline (SBL) reactor neutrino experiment is proposed to investigate a reactor anti-neutrino anomaly. A liquid scintillator (LS) is used to detect anti-neutrinos emitted from a Hanaro reactor, and the pulse shape discrimination (PSD) ability of the metal-loaded organic LSs is evaluated on small-scale laboratory samples. PSD can be affected by selecting different base solvents, and several of the LSs used two different organic base solvents, such as linear alkyl benzene and di-isopropylnaphthalene. For the metallic content, gadolinium (Gd) or lithium (6Li) was loaded into a home-made organic LS and into a commercially available liquid scintillation cocktail. A feasibility study was performed for the PSD using several different liquid scintillation cocktails. In this work, the preparation and the PSD characteristics of a promising candidate, which will be used in an above-ground environment, are summarized and presented. © 2015 The Royal Swedish Academy of Sciences1481sciescopu
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