Prevalence of rearrangements in the 22q11.2 region and population-based risk of neuropsychiatric and developmental disorders in a Danish population: a case-cohort study

Publication date: July 2018Source: The Lancet Psychiatry, Volume 5, Issue 7Author(s): Line Olsen, Thomas Sparsø, Shantel M Weinsheimer, Marcelo Bertalan Quintanilha Dos Santos, Wiktor Mazin, Anders Rosengren, Xabier Calle Sanchez, Louise K Hoeffding, Henriette Schmock, Marie Baekvad-Hansen, Jonas Bybjerg-Grauholm, Mark J Daly, Benjamin M Neale, Marianne G Pedersen, Esben Agerbo, Ole Mors, Anders Børglum, Merete Nordentoft, David M Hougaard, Preben Bo MortensenSummaryBackgroundAlthough the pathogenic nature of copy number variants (CNVs) on chromosome 22q11.2 has been recognised for decades, unbiased estimates of their population prevalence, mortality, disease risks, and diagnostic trajectories are absent. We aimed to provide the true population prevalence of 22q11.2 CNVs and associated trajectory of disease risk and mortality by use of the unbiased, representative Danish iPSYCH population case cohort.MethodsThis case-cohort study was done on a population of 86 189 individuals selected from the iPSYCH case cohort of 1 472 762 singletons born in Denmark between May 1, 1981, and Dec 31, 2005, who have a known mother from the Danish Civil Registration System, were residents in Denmark at 1 year of age, and enrolled in the iPSYCH Initiative. We used epidemiological methods in conjunction with nationwide hospital registers to analyse the iPSYCH case cohort of individuals with attention-deficit hyperactivity disorder (ADHD), major depressive disorder, schizophren...
Source: The Lancet Psychiatry - Category: Psychiatry Source Type: research

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Source: European Journal of Sport Science - Category: Sports Medicine Authors: Source Type: research
Publication date: October 2020Source: Brain, Behavior, and Immunity, Volume 89Author(s): Mario Gennaro Mazza, Rebecca De Lorenzo, Caterina Conte, Sara Poletti, Benedetta Vai, Irene Bollettini, Elisa Maria Teresa Melloni, Roberto Furlan, Fabio Ciceri, Patrizia Rovere-Querini, COVID-19 BioB Outpatient Clinic Study group, Francesco Benedetti
Source: Brain, Behavior, and Immunity - Category: Neurology Source Type: research
Publication date: October 2020Source: Brain, Behavior, and Immunity, Volume 89Author(s): Xiaoqin Liu, Trine Munk-Olsen, Clara Albiñana, Bjarni J. Vilhjálmsson, Emil M. Pedersen, Vivi Schlünssen, Marie Bækvad-Hansen, Jonas Bybjerg-Grauholm, Merete Nordentoft, Anders D. Børglum, Thomas Werge, David M. Hougaard, Preben B. Mortensen, Esben Agerbo
Source: Brain, Behavior, and Immunity - Category: Neurology Source Type: research
Publication date: October 2020Source: Brain, Behavior, and Immunity, Volume 89Author(s): Fernando Lopes, Fernando A. Vicentini, Nina L. Cluny, Alexander J. Mathews, Benjamin H. Lee, Wagdi A. Almishri, Lateece Griffin, William Gonçalves, Vanessa Pinho, Derek M. McKay, Simon A. Hirota, Mark G. Swain, Quentin J. Pittman, Keith A. Sharkey
Source: Brain, Behavior, and Immunity - Category: Neurology Source Type: research
Authors: Kim JS, Hong SH, Kim WS PMID: 33029988 [PubMed]
Source: Journal of Clinical Neurology - Category: Neurology Tags: J Clin Neurol Source Type: research
CONCLUSIONS: In addition to bilateral HA, CNS infection alone was not a poor prognostic factor for the CNS infection-related epilepsy with HA group compared with the conventional MTLE with HA group. Based on these negative results, HA is a plausible and relevant lesion with similar clinical characteristics to HA in patients with conventional MTLE. Therefore, CNS infection-related MTLE with isolated HA might represent another subtype of MTLE with HA with a different etiology. PMID: 33029977 [PubMed]
Source: Journal of Clinical Neurology - Category: Neurology Tags: J Clin Neurol Source Type: research
CONCLUSIONS: Individually customized, multicomponent exercise programs lead to improved levels of cognitive function, depression, and quality of life, especially among those who are more frail. PMID: 33029968 [PubMed]
Source: Journal of Clinical Neurology - Category: Neurology Tags: J Clin Neurol Source Type: research
CONCLUSIONS: Subcortical gray-matter structures are involved in the neurodegenerative process of ALS before cognitive impairment becomes evident. PMID: 33029965 [PubMed]
Source: Journal of Clinical Neurology - Category: Neurology Tags: J Clin Neurol Source Type: research
Authors: Kim EH, Shim WH, Lee JS, Yoon HM, Ko TS, Yum MS Abstract BACKGROUND AND PURPOSE: Recent quantitative neuroimaging studies of childhood absence epilepsy (CAE) have identified various structural abnormalities that might be involved in the onset of absence seizure and associated cognitive and behavioral functions. However, the neuroanatomical alterations specific to CAE remain unclear, and so this study investigated the regional alterations of brain structures associated with newly diagnosed CAE. METHODS: Surface and volumetric magnetic resonance imaging data of patients with newly diagnosed CAE (n=18) an...
Source: Journal of Clinical Neurology - Category: Neurology Tags: J Clin Neurol Source Type: research
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