8,344 results match your criteria Medical Informatics in Neurology


Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution.

Authors:
Anne E Justice Tugce Karaderi Heather M Highland Kristin L Young Mariaelisa Graff Yingchang Lu Valérie Turcot Paul L Auer Rebecca S Fine Xiuqing Guo Claudia Schurmann Adelheid Lempradl Eirini Marouli Anubha Mahajan Thomas W Winkler Adam E Locke Carolina Medina-Gomez Tõnu Esko Sailaja Vedantam Ayush Giri Ken Sin Lo Tamuno Alfred Poorva Mudgal Maggie C Y Ng Nancy L Heard-Costa Mary F Feitosa Alisa K Manning Sara M Willems Suthesh Sivapalaratnam Goncalo Abecasis Dewan S Alam Matthew Allison Philippe Amouyel Zorayr Arzumanyan Beverley Balkau Lisa Bastarache Sven Bergmann Lawrence F Bielak Matthias Blüher Michael Boehnke Heiner Boeing Eric Boerwinkle Carsten A Böger Jette Bork-Jensen Erwin P Bottinger Donald W Bowden Ivan Brandslund Linda Broer Amber A Burt Adam S Butterworth Mark J Caulfield Giancarlo Cesana John C Chambers Daniel I Chasman Yii-Der Ida Chen Rajiv Chowdhury Cramer Christensen Audrey Y Chu Francis S Collins James P Cook Amanda J Cox David S Crosslin John Danesh Paul I W de Bakker Simon de Denus Renée de Mutsert George Dedoussis Ellen W Demerath Joe G Dennis Josh C Denny Emanuele Di Angelantonio Marcus Dörr Fotios Drenos Marie-Pierre Dubé Alison M Dunning Douglas F Easton Paul Elliott Evangelos Evangelou Aliki-Eleni Farmaki Shuang Feng Ele Ferrannini Jean Ferrieres Jose C Florez Myriam Fornage Caroline S Fox Paul W Franks Nele Friedrich Wei Gan Ilaria Gandin Paolo Gasparini Vilmantas Giedraitis Giorgia Girotto Mathias Gorski Harald Grallert Niels Grarup Megan L Grove Stefan Gustafsson Jeff Haessler Torben Hansen Andrew T Hattersley Caroline Hayward Iris M Heid Oddgeir L Holmen G Kees Hovingh Joanna M M Howson Yao Hu Yi-Jen Hung Kristian Hveem M Arfan Ikram Erik Ingelsson Anne U Jackson Gail P Jarvik Yucheng Jia Torben Jørgensen Pekka Jousilahti Johanne M Justesen Bratati Kahali Maria Karaleftheri Sharon L R Kardia Fredrik Karpe Frank Kee Hidetoshi Kitajima Pirjo Komulainen Jaspal S Kooner Peter Kovacs Bernhard K Krämer Kari Kuulasmaa Johanna Kuusisto Markku Laakso Timo A Lakka David Lamparter Leslie A Lange Claudia Langenberg Eric B Larson Nanette R Lee Wen-Jane Lee Terho Lehtimäki Cora E Lewis Huaixing Li Jin Li Ruifang Li-Gao Li-An Lin Xu Lin Lars Lind Jaana Lindström Allan Linneberg Ching-Ti Liu Dajiang J Liu Jian'an Luan Leo-Pekka Lyytikäinen Stuart MacGregor Reedik Mägi Satu Männistö Gaëlle Marenne Jonathan Marten Nicholas G D Masca Mark I McCarthy Karina Meidtner Evelin Mihailov Leena Moilanen Marie Moitry Dennis O Mook-Kanamori Anna Morgan Andrew P Morris Martina Müller-Nurasyid Patricia B Munroe Narisu Narisu Christopher P Nelson Matt Neville Ioanna Ntalla Jeffrey R O'Connell Katharine R Owen Oluf Pedersen Gina M Peloso Craig E Pennell Markus Perola James A Perry John R B Perry Tune H Pers Ailith Ewing Ozren Polasek Olli T Raitakari Asif Rasheed Chelsea K Raulerson Rainer Rauramaa Dermot F Reilly Alex P Reiner Paul M Ridker Manuel A Rivas Neil R Robertson Antonietta Robino Igor Rudan Katherine S Ruth Danish Saleheen Veikko Salomaa Nilesh J Samani Pamela J Schreiner Matthias B Schulze Robert A Scott Marcelo Segura-Lepe Xueling Sim Andrew J Slater Kerrin S Small Blair H Smith Jennifer A Smith Lorraine Southam Timothy D Spector Elizabeth K Speliotes Kari Stefansson Valgerdur Steinthorsdottir Kathleen E Stirrups Konstantin Strauch Heather M Stringham Michael Stumvoll Liang Sun Praveen Surendran Karin M A Swart Jean-Claude Tardif Kent D Taylor Alexander Teumer Deborah J Thompson Gudmar Thorleifsson Unnur Thorsteinsdottir Betina H Thuesen Anke Tönjes Mina Torres Emmanouil Tsafantakis Jaakko Tuomilehto André G Uitterlinden Matti Uusitupa Cornelia M van Duijn Mauno Vanhala Rohit Varma Sita H Vermeulen Henrik Vestergaard Veronique Vitart Thomas F Vogt Dragana Vuckovic Lynne E Wagenknecht Mark Walker Lars Wallentin Feijie Wang Carol A Wang Shuai Wang Nicholas J Wareham Helen R Warren Dawn M Waterworth Jennifer Wessel Harvey D White Cristen J Willer James G Wilson Andrew R Wood Ying Wu Hanieh Yaghootkar Jie Yao Laura M Yerges-Armstrong Robin Young Eleftheria Zeggini Xiaowei Zhan Weihua Zhang Jing Hua Zhao Wei Zhao He Zheng Wei Zhou M Carola Zillikens Fernando Rivadeneira Ingrid B Borecki J Andrew Pospisilik Panos Deloukas Timothy M Frayling Guillaume Lettre Karen L Mohlke Jerome I Rotter Zoltán Kutalik Joel N Hirschhorn L Adrienne Cupples Ruth J F Loos Kari E North Cecilia M Lindgren

Nat Genet 2019 Feb 18. Epub 2019 Feb 18.

Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.

Body-fat distribution is a risk factor for adverse cardiovascular health consequences. We analyzed the association of body-fat distribution, assessed by waist-to-hip ratio adjusted for body mass index, with 228,985 predicted coding and splice site variants available on exome arrays in up to 344,369 individuals from five major ancestries (discovery) and 132,177 European-ancestry individuals (validation). We identified 15 common (minor allele frequency, MAF ≥5%) and nine low-frequency or rare (MAF <5%) coding novel variants. Read More

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http://dx.doi.org/10.1038/s41588-018-0334-2DOI Listing
February 2019

Artificial intelligence in neuropathology: deep learning-based assessment of tauopathy.

Lab Invest 2019 Feb 15. Epub 2019 Feb 15.

Department of Pathology, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA.

Accumulation of abnormal tau in neurofibrillary tangles (NFT) occurs in Alzheimer disease (AD) and a spectrum of tauopathies. These tauopathies have diverse and overlapping morphological phenotypes that obscure classification and quantitative assessments. Recently, powerful machine learning-based approaches have emerged, allowing the recognition and quantification of pathological changes from digital images. Read More

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http://dx.doi.org/10.1038/s41374-019-0202-4DOI Listing
February 2019

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Nat Commun 2019 Feb 15;10(1):883. Epub 2019 Feb 15.

CHU Sainte-Justine Research Center, Montreal, QC, H3T 1C5, Canada.

The original version of this Article contained an error in the spelling of the author Laurence Faivre, which was incorrectly given as Laurence Faive. This has now been corrected in both the PDF and HTML versions of the Article. Read More

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http://dx.doi.org/10.1038/s41467-019-08800-2DOI Listing
February 2019
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OMERACT 2018 Modified Patient-reported Outcome Domain Core Set in the Life Impact Area for Adult Idiopathic Inflammatory Myopathies.

J Rheumatol 2019 Feb 15. Epub 2019 Feb 15.

From the Department of Learning, Informatics and Medical Education, Karolinska Institutet; Function Area Occupational Therapy and Physical Therapy, Allied Health Professionals Function, Karolinska University Hospital, Department of Neurobiology, Care Science and Society, Division of Physiotherapy and Department of Medicine, Karolinska Institutet; Division of Rheumatology, Rheumatology Unit, Department of Medicine, Karolinska Institutet, Solna, Sweden; Division of Rheumatology, Department of Medicine, Johns Hopkins University, Baltimore, Maryland, USA; Division of Rheumatology, Department of Internal Medicine, Medical Research Center, College of Medicine, Department of Molecular Medicine and Biopharmaceutical Sciences, Seoul National University, Seoul, Korea; Division of Rheumatology, Fiona Stanley Hospital, Institute for Immunology and Infectious Diseases, Murdoch University, Perth; The Notre Dame University Fremantle, Fremantle, Australia; Amsterdam UMC, University of Amsterdam, Department of Neurology, Amsterdam Neuroscience, Amsterdam, the Netherlands; Center for Global Health, University of Ottawa, Ottawa, Ontario, Canada. Support for this project comes from a grant from the Korea Health Technology R&D Project through the Korea Health Industry Development Institute, funded by the Ministry of Health & Welfare, Republic of Korea (grant number: HI14C1277); The Swedish Rheumatism Association; The Börje Olhagen foundation (supported by grants provided by the Stockholm County Council ALF project); the Diplomat Specialty Infusion Group; Option Care; and Nufactor Inc. M. Regardt, PhD, Occupational Therapist, Department of Learning, Informatics and Medical Education, Karolinska Institutet, and Function Area Occupational Therapy and Physical Therapy, Allied Health Professionals Function, Karolinska University Hospital; C.A. Mecoli, MD, Division of Rheumatology, Department of Medicine, Johns Hopkins University; J.K. Park, MD, PhD, Division of Rheumatology, Department of Internal Medicine, Seoul National University Hospital; I. de Groot, Patient Research Partner; C. Sarver, Patient Research Partner; M. Needham, MD, Division of Rheumatology, Fiona Stanley Hospital, Institute for Immunology and Infectious Diseases, Murdoch University, and The Notre Dame University; M. de Visser, MD, PhD, Amsterdam UMC, University of Amsterdam, Department of Neurology, Amsterdam Neuroscience; B. Shea, MSN, Center for Global Health, University of Ottawa; C.O. Bingham III, MD, Division of Rheumatology, Department of Medicine, Johns Hopkins University; I.E. Lundberg, MD, PhD, Division of Rheumatology, Rheumatology Unit, Department of Medicine, Karolinska Institutet; Y.W. Song, MD, PhD, Division of Rheumatology, Department of Internal Medicine, Medical Research Center, College of Medicine, Department of Molecular Medicine and Biopharmaceutical Sciences, Seoul National University; L. Christopher-Stine, MD, Division of Rheumatology, Department of Medicine, Johns Hopkins University; H. Alexanderson, PhD, Physiotherapist, Department of Neurobiology, Care Science and Society, Division of Physiotherapy and Department of Medicine Solna, Karolinska Institutet, and Function Area Occupational Therapy and Physical Therapy, Allied Health Professionals Function, Karolinska University Hospital. M. Regardt and Dr. C. Mecoli are co-first authors. Address correspondence to M. Regardt, Function Area Occupational Therapy and Physical Therapy, Karolinska University Hospital, Department of LIME, Karolinska Institutet, Solna, 171 76 Stockholm, Sweden. E-mail: Accepted for publication December 21, 2018.

Objective: To present and vote on a myositis modified patient-reported outcome core domain set in the life impact area at the Outcome Measures in Rheumatology (OMERACT) 2018.

Methods: Based on results from international focus groups and Delphi surveys, a draft core set was developed.

Results: Domains muscle symptoms, fatigue, level of physical activity, and pain reached ≥ 70% consensus and were mandatory to assess in all trials. Read More

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http://dx.doi.org/10.3899/jrheum.181065DOI Listing
February 2019

The early proximal αβ TCR signalosome specifies thymic selection outcome through a quantitative protein interaction network.

Sci Immunol 2019 Feb;4(32)

Department of Molecular Microbiology and Immunology, School of Medicine, University of Missouri, Columbia, MO, USA.

During αβ T cell development, T cell antigen receptor (TCR) engagement transduces biochemical signals through a protein-protein interaction (PPI) network that dictates dichotomous cell fate decisions. It remains unclear how signal specificity is communicated, instructing either positive selection to advance cell differentiation or death by negative selection. Early signal discrimination might occur by PPI signatures differing qualitatively (customized, unique PPI combinations for each signal), quantitatively (graded amounts of a single PPI series), or kinetically (speed of PPI pathway progression). Read More

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http://dx.doi.org/10.1126/sciimmunol.aal2201DOI Listing
February 2019

Progressive brain atrophy in chronically infected and treated HIV+ individuals.

J Neurovirol 2019 Feb 14. Epub 2019 Feb 14.

Department of Public Health, Infection Unit, Tufts University School of Medicine, Boston, MA, USA.

Growing evidence points to persistent neurological injury in chronic HIV infection. It remains unclear whether chronically HIV-infected individuals on combined antiretroviral therapy (cART) develop progressive brain injury and impaired neurocognitive function despite successful viral suppression and immunological restoration. In a longitudinal neuroimaging study for the HIV Neuroimaging Consortium (HIVNC), we used tensor-based morphometry to map the annual rate of change of regional brain volumes (mean time interval 1. Read More

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http://dx.doi.org/10.1007/s13365-019-00723-4DOI Listing
February 2019

Persistence and adherence to rivastigmine in patients with dementia: Results from a noninterventional, retrospective study using the National Health Insurance research database of Taiwan.

Alzheimers Dement (N Y) 2019 17;5:46-51. Epub 2018 Jul 17.

Department of Neurology, Chang Gung Memorial Hospital and College of Medicine, Chang Gung University, Taoyuan, Taiwan.

Introduction: The objective of the study was to assess adherence and persistence of patients treated with rivastigmine versus donepezil.

Methods: Persistence was calculated as the time from the first prescription date of rivastigmine/donepezil until discontinuation/medication switch/end of available data, whichever occurred first. Adherence was calculated as proportion of days covered and medication possession ratio. Read More

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http://dx.doi.org/10.1016/j.trci.2018.06.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6360604PMC

Longitudinal White Matter Changes following Carbon Monoxide Poisoning: A 9-Month Follow-Up Voxelwise Diffusional Kurtosis Imaging Study.

AJNR Am J Neuroradiol 2019 Feb 14. Epub 2019 Feb 14.

Department of Radiology (P.-H.L.), Kaohsiung Veterans General Hospital, Kaohsiung, Taiwan

Background And Purpose: Patients with carbon monoxide (CO) intoxication exhibit progressive WM changes that are not well-understood. The purpose of this study was to detect longitudinal WM changes using voxelwise diffusional kurtosis imaging in patients with CO intoxication from the acute-to-chronic stage after CO intoxication.

Materials And Methods: Twenty-four patients with CO intoxication and 21 age- and sex-matched healthy controls were enrolled in this study. Read More

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http://dx.doi.org/10.3174/ajnr.A5979DOI Listing
February 2019

Cerebral vasomotor reactivity during hypo- and hypercapnia across the adult lifespan.

J Cereb Blood Flow Metab 2019 Feb 15:271678X19828327. Epub 2019 Feb 15.

1 Institute for Exercise and Environmental Medicine, Texas Health Presbyterian Hospital Dallas, Dallas, TX, USA.

Age is the strongest risk factor for cerebrovascular disease; however, age-related changes in cerebrovascular function are still not well understood. The objective of this study was to measure cerebral vasomotor reactivity (CVMR) during hypo- and hypercapnia across the adult lifespan. One hundred fifty-three healthy participants (21-80 years) underwent measurements of cerebral blood flow velocity (CBFV) via transcranial Doppler, mean arterial pressure (MAP) via plethysmograph, and end-tidal CO (EtCO) via capnography during hyperventilation (hypocapnia) and a modified rebreathing protocol (hypercapnia). Read More

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http://dx.doi.org/10.1177/0271678X19828327DOI Listing
February 2019

Ipsilateral motor evoked potentials in a patient with unihemispheric cortical atrophy due to Rasmussen encephalitis.

Neural Regen Res 2019 Jun;14(6):1025-1028

Department of Neurorehabilitation, Hospital of Vipiteno, Vipiteno; Research Unit for Neurorehabilitation South Tyrol, Bolzano, Italy.

The role of the ipsilaterally descending motor pathways in the recovery mechanisms after unilateral hemispheric damage is still poorly understood. Motor output reorganization was investigated in a 56-year-old male patient with acquired unilateral hemispheric atrophy due to Rasmussen encephalitis. In particular, the ipsilateral corticospinal pathways were explored using focal transcranial magnetic stimulation. Read More

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http://dx.doi.org/10.4103/1673-5374.250581DOI Listing

The validation of a new online cognitive assessment tool: The MyCognition Quotient.

Int J Methods Psychiatr Res 2019 Feb 13:e1775. Epub 2019 Feb 13.

Department of Psychiatry, Amsterdam University Medical Centers (location AMC), Amsterdam, The Netherlands.

Objectives: Cognitive impairment affects many psychiatric patients, influences daily functioning, and should be an important treatment focus. Assessment of cognitive status is crucial in cognitive remediation studies. However, current test batteries have limitations. Read More

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http://dx.doi.org/10.1002/mpr.1775DOI Listing
February 2019
1 Read
3.759 Impact Factor

A Smart Device System to Identify New Phenotypical Characteristics in Movement Disorders.

Front Neurol 2019 30;10:48. Epub 2019 Jan 30.

Institute of Medical Informatics, University of Münster, Münster, Germany.

Parkinson's disease and Essential Tremor are two of the most common movement disorders and are still associated with high rates of misdiagnosis. Collected data by technology-based objective measures (TOMs) has the potential to provide new promising and highly accurate movement data for a better understanding of phenotypical characteristics and diagnostic support. A technology-based system called Smart Device System (SDS) is going to be implemented for multi-modal high-resolution acceleration measurement of patients with PD or ET within a clinical setting. Read More

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http://dx.doi.org/10.3389/fneur.2019.00048DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6363699PMC
January 2019

Lumbosacral radiculoplexus neuropathy: Incidence and the association with diabetes mellitus.

Neurology 2019 Feb 13. Epub 2019 Feb 13.

From the Department of Neurology (P.S.N.), National Neuroscience Institute, Singapore; Department of Neurology (P.S.N., P.J.D., R.S.L., M.V.P., P.J.B.D.), and Division of Biomedical Statistics and Informatics (P.T.), Mayo Clinic, Rochester, MN.

Objective: To determine the previously unknown incidence of lumbosacral-radiculoplexus neuropathy (LRPN) and its association with diabetes mellitus (DM).

Methods: LRPN defined by clinical and electrophysiologic criteria was identified among Olmsted County, Minnesota, residents during a 16-year period (2000-2015) using the unique facilities of the Rochester Epidemiology Project. DM was ascertained using American Diabetes Association criteria. Read More

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http://dx.doi.org/10.1212/WNL.0000000000007020DOI Listing
February 2019
1 Read

Phenotypic Plasticity of Invasive Edge Glioma Stem-like Cells in Response to Ionizing Radiation.

Cell Rep 2019 Feb;26(7):1893-1905.e7

Department of Translational Molecular Pathology and Brain Tumor Center, The University of Texas MD Anderson Cancer Center, Houston, TX, USA. Electronic address:

Unresectable glioblastoma (GBM) cells in the invading tumor edge can act as seeds for recurrence. The molecular and phenotypic properties of these cells remain elusive. Here, we report that the invading edge and tumor core have two distinct types of glioma stem-like cells (GSCs) that resemble proneural (PN) and mesenchymal (MES) subtypes, respectively. Read More

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http://dx.doi.org/10.1016/j.celrep.2019.01.076DOI Listing
February 2019
2 Reads
7.207 Impact Factor

Impulsivity across reactive, proactive and cognitive domains in Parkinson's disease on dopaminergic medication: Evidence for multiple domain impairment.

PLoS One 2019 13;14(2):e0210880. Epub 2019 Feb 13.

Coimbra Institute for Biomedical Imaging and Translational Research (CiBit), ICNAS-Institute for Nuclear Sciences Applied to Health, Brain Imaging Network of Portugal, Coimbra, Portugal.

Impulse control disorders (ICD) may occur in Parkinson's disease (PD) although it remains to be understood if such deficits may occur even in the absence of a formal ICD diagnosis. Moreover, studies addressing simultaneously distinct neurobehavioral domains, such as cognitive, proactive and reactive motor impulsivity, are still lacking. Here, we aimed to investigate if reactive, proactive and cognitive impulsivity involving risk taking are concomitantly affected in medicated PD patients, and whether deficits were dependent on response strategies, such as speed accuracy tradeoffs, or the proportion of omission vs. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0210880PLOS
February 2019

Disparities in the Use of Intravenous t-PA among Ischemic Stroke Patients: Population-based Recent Temporal Trends.

J Stroke Cerebrovasc Dis 2019 Feb 8. Epub 2019 Feb 8.

The Stroke Center and Department of Neurology, SUNY Downstate College of Medicine and Medical Center, Brooklyn, New York; Department of Neurology and Emergency Medicine, Kings County Hospital Center, Brooklyn, New York.

Objective: To explore a 5-year comparison of disparities in intravenous t-PA (IV t-PA) use among acute ischemic stroke (AIS) patients based on race, gender, age, ethnic origin, hospital status, and geographic location.

Methods: We extracted patients' demographic information and hospital characteristics for 2010 and 2014 from the New York Statewide Planning and Research Cooperative System (SPARCS). We compared disparities in IV t-PA use among AIS patients in 2010 to that in 2014 to estimate temporal trends. Read More

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http://dx.doi.org/10.1016/j.jstrokecerebrovasdis.2019.01.013DOI Listing
February 2019

Immune and genomic correlates of response to anti-PD-1 immunotherapy in glioblastoma.

Nat Med 2019 Feb 11. Epub 2019 Feb 11.

Department of Systems Biology, Columbia University, New York, NY, USA.

Immune checkpoint inhibitors have been successful across several tumor types; however, their efficacy has been uncommon and unpredictable in glioblastomas (GBM), where <10% of patients show long-term responses. To understand the molecular determinants of immunotherapeutic response in GBM, we longitudinally profiled 66 patients, including 17 long-term responders, during standard therapy and after treatment with PD-1 inhibitors (nivolumab or pembrolizumab). Genomic and transcriptomic analysis revealed a significant enrichment of PTEN mutations associated with immunosuppressive expression signatures in non-responders, and an enrichment of MAPK pathway alterations (PTPN11, BRAF) in responders. Read More

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http://dx.doi.org/10.1038/s41591-019-0349-yDOI Listing
February 2019
27.363 Impact Factor

A Microglial Signature Directing Human Aging and Neurodegeneration-Related Gene Networks.

Front Neurosci 2019 24;13. Epub 2019 Jan 24.

Department of Translational Brain Research, German Center for Neurodegenerative Diseases, Munich, Germany.

Aging is regarded as a major risk factor for neurodegenerative diseases. Thus, a better understanding of the similarities between the aging process and neurodegenerative diseases at the cellular and molecular level may reveal better understanding of this detrimental relationship. In the present study, we mined publicly available gene expression datasets from healthy individuals and patients affected by neurodegenerative diseases (Alzheimer's disease, Parkinson's disease, and Huntington's disease) across a broad age spectrum and compared those with mouse aging and mouse cell-type specific gene expression profiles. Read More

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http://dx.doi.org/10.3389/fnins.2019.00002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6353788PMC
January 2019
1 Read

Disease progression in women with X-linked adrenoleukodystrophy is slow.

Orphanet J Rare Dis 2019 Feb 7;14(1):30. Epub 2019 Feb 7.

Department of Pediatric Neurology/Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

Background: Over 80% of women with X-linked adrenoleukodystrophy (ALD) develop spinal cord disease in adulthood for which treatment is supportive only. For future clinical trials quantitative data on disease progression rates are essential. Moreover, diagnosis can be challenging in ALD women, as the most important diagnostic biomarker is normal in 15-20%. Read More

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http://dx.doi.org/10.1186/s13023-019-1008-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6367840PMC
February 2019

Structured Crowdsourcing Enables Convolutional Segmentation of Histology Images.

Bioinformatics 2019 02 6. Epub 2019 Feb 6.

Department of Biomedical Informatics, Emory University School of Medicine, Atlanta, GA, USA.

Motivation: While deep-learning algorithms have demonstrated outstanding performance in semantic image segmentation tasks, large annotation datasets are needed to create accurate models. Annotation of histology images is challenging due to the effort and experience required to carefully delineate tissue structures, and difficulties related to sharing and markup of whole-slide images.

Results: We recruited 25 participants, ranging in experience from senior pathologists to medical students, to delineate tissue regions in 151 breast cancer slides using the Digital Slide Archive. Read More

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http://fdslive.oup.com/www.oup.com/pdf/production_in_progres
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http://dx.doi.org/10.1093/bioinformatics/btz083DOI Listing
February 2019
2 Reads

Association of Apolipoprotein E With Intracerebral Hemorrhage Risk by Race/Ethnicity: A Meta-analysis.

JAMA Neurol 2019 Feb 6. Epub 2019 Feb 6.

Center for Genomic Medicine, Massachusetts General Hospital, Boston.

Importance: Genetic studies of intracerebral hemorrhage (ICH) have focused mainly on white participants, but genetic risk may vary or could be concealed by differing nongenetic coexposures in nonwhite populations. Transethnic analysis of risk may clarify the role of genetics in ICH risk across populations.

Objective: To evaluate associations between established differences in ICH risk by race/ethnicity and the variability in the risks of apolipoprotein E (APOE) ε4 alleles, the most potent genetic risk factor for ICH. Read More

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http://dx.doi.org/10.1001/jamaneurol.2018.4519DOI Listing
February 2019
1 Read

Aberrant Brain Regional Homogeneity and Functional Connectivity of Entorhinal Cortex in Vascular Mild Cognitive Impairment: A Resting-State Functional MRI Study.

Front Neurol 2018 22;9:1177. Epub 2019 Jan 22.

Department of Radiology, Xuanwu Hospital, Capital Medical University, Beijing, China.

The aim of this study was to investigate changes in regional homogeneity (ReHo) and the functional connectivity of the entorhinal cortex (EC) in vascular mild cognitive impairment (VaMCI) and to evaluate the relationships between such changes and neuropsychological measures in VaMCI individuals. In all, 31 patients with VaMCI and 32 normal controls (NCs) underwent rs-fMRI. Differences in whole-brain ReHo and seed-based bilateral EC functional connectivity (EC-FC) were determined. Read More

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http://dx.doi.org/10.3389/fneur.2018.01177DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6350268PMC
January 2019
1 Read

Disentangling the genetics of lean mass.

Authors:
David Karasik M Carola Zillikens Yi-Hsiang Hsu Ali Aghdassi Kristina Akesson Najaf Amin Inês Barroso David A Bennett Lars Bertram Murielle Bochud Ingrid B Borecki Linda Broer Aron S Buchman Liisa Byberg Harry Campbell Natalia Campos-Obando Jane A Cauley Peggy M Cawthon John C Chambers Zhao Chen Nam H Cho Hyung Jin Choi Wen-Chi Chou Steven R Cummings Lisette C P G M de Groot Phillip L De Jager Ilja Demuth Luda Diatchenko Michael J Econs Gudny Eiriksdottir Anke W Enneman Joel Eriksson Johan G Eriksson Karol Estrada Daniel S Evans Mary F Feitosa Mao Fu Christian Gieger Harald Grallert Vilmundur Gudnason Launer J Lenore Caroline Hayward Albert Hofman Georg Homuth Kim M Huffman Lise B Husted Thomas Illig Erik Ingelsson Till Ittermann John-Olov Jansson Toby Johnson Reiner Biffar Joanne M Jordan Antti Jula Magnus Karlsson Kay-Tee Khaw Tuomas O Kilpeläinen Norman Klopp Jacqueline S L Kloth Daniel L Koller Jaspal S Kooner William E Kraus Stephen Kritchevsky Zoltán Kutalik Teemu Kuulasmaa Johanna Kuusisto Markku Laakso Jari Lahti Thomas Lang Bente L Langdahl Markus M Lerch Joshua R Lewis Christina Lill Lars Lind Cecilia Lindgren Yongmei Liu Gregory Livshits Östen Ljunggren Ruth J F Loos Mattias Lorentzon Jian'an Luan Robert N Luben Ida Malkin Fiona E McGuigan Carolina Medina-Gomez Thomas Meitinger Håkan Melhus Dan Mellström Karl Michaëlsson Braxton D Mitchell Andrew P Morris Leif Mosekilde Maria Nethander Anne B Newman Jeffery R O'Connell Ben A Oostra Eric S Orwoll Aarno Palotie Munro Peacock Markus Perola Annette Peters Richard L Prince Bruce M Psaty Katri Räikkönen Stuart H Ralston Samuli Ripatti Fernando Rivadeneira John A Robbins Jerome I Rotter Igor Rudan Veikko Salomaa Suzanne Satterfield Sabine Schipf Chan Soo Shin Albert V Smith Shad B Smith Nicole Soranzo Timothy D Spector Alena Stancáková Kari Stefansson Elisabeth Steinhagen-Thiessen Lisette Stolk Elizabeth A Streeten Unnur Styrkarsdottir Karin M A Swart Patricia Thompson Cynthia A Thomson Gudmar Thorleifsson Unnur Thorsteinsdottir Emmi Tikkanen Gregory J Tranah André G Uitterlinden Cornelia M van Duijn Natasja M van Schoor Liesbeth Vandenput Peter Vollenweider Henry Völzke Jean Wactawski-Wende Mark Walker Nicholas J Wareham Dawn Waterworth Michael N Weedon H-Erich Wichmann Elisabeth Widen Frances M K Williams James F Wilson Nicole C Wright Laura M Yerges-Armstrong Lei Yu Weihua Zhang Jing Hua Zhao Yanhua Zhou Carrie M Nielson Tamara B Harris Serkalem Demissie Douglas P Kiel Claes Ohlsson

Am J Clin Nutr 2019 Feb;109(2):276-287

Department of Internal Medicine and Clinical Nutrition, Institute of Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.

Background: Lean body mass (LM) plays an important role in mobility and metabolic function. We previously identified five loci associated with LM adjusted for fat mass in kilograms. Such an adjustment may reduce the power to identify genetic signals having an association with both lean mass and fat mass. Read More

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http://dx.doi.org/10.1093/ajcn/nqy272DOI Listing
February 2019
1 Read
6.770 Impact Factor

Kynurenine is a cerebrospinal fluid biomarker for bacterial and viral CNS infections.

J Infect Dis 2019 Feb 5. Epub 2019 Feb 5.

Centre for Individualized Infection Medicine, Hannover, Germany.

Background: The tryptophan-kynurenine-NAD+ pathway is closely associated with regulation of immune cells toward less inflammatory phenotypes and may exert neuroprotective effects. Investigating its regulation in CNS infections would improve our understanding of pathophysiology and end-organ damage, and, furthermore, open doors to its evaluation as a source of diagnostic and/or prognostic biomarkers.

Methods: We measured concentrations of kynurenine (Kyn) and tryptophan (Trp) in 220 cerebrospinal fluid samples from patients with bacterial and viral (herpes simplex, varicella zoster, enteroviruses) meningitis/encephalitis, neuroborreliosis, autoimmune neuroinflammation (anti-NMDA-R encephalitis, multiple sclerosis), and noninflamed controls (Bell's palsy, normal pressure hydrocephalus, Tourette syndrome). Read More

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https://academic.oup.com/jid/advance-article/doi/10.1093/inf
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http://dx.doi.org/10.1093/infdis/jiz048DOI Listing
February 2019
7 Reads

The Relationship between Diffusion-Weighted Magnetic Resonance Imaging Lesions and 24-Hour Rhythm Holter Findings in Patients with Cryptogenic Stroke.

Medicina (Kaunas) 2019 Feb 4;55(2). Epub 2019 Feb 4.

Department of Cardiology, School of Medicine, Trakya University, 22030 Edirne, Turkey.

Background And Objectives: Cranial magnetic resonance imaging findings of patients considered to be cryptogenic stroke may be useful in determining the clinical and prognostic significance of arrhythmias, such as atrial premature beats and atrial run attacks, that are frequently encountered in rhythm Holter analysis. This study was conducted to investigate the relationship between short atrial runs and frequent premature atrial contractions detected in Holter monitors and infarct distributions in cranial magnetic resonance imaging of patients diagnosed with cryptogenic stroke.

Materials And Methods: We enrolled the patients with acute ischemic stroke whose etiology were undetermined. Read More

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http://www.mdpi.com/1010-660X/55/2/38
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http://dx.doi.org/10.3390/medicina55020038DOI Listing
February 2019
3 Reads

Amplitude-integrated EEG use in neonatal abstinence syndrome: a pilot study.

J Matern Fetal Neonatal Med 2019 Feb 5:1-11. Epub 2019 Feb 5.

e Neurology , University of Wisconsin School of Medicine and Public Health , Madison , Wisconsin , USA.

Objective: Though central nervous system irritability is a well-established consequence of neonatal drug withdrawal, brain function in infants with neonatal abstinence syndrome (NAS) is not well understood. Amplitude-integrated electroencephalography (aEEG) is a bedside tool used for monitoring brain activity and seizures. We describe the prevalence of abnormal aEEG background patterns in infants with NAS. Read More

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http://dx.doi.org/10.1080/14767058.2019.1579190DOI Listing
February 2019
1 Read

No evidence for a BRD2 promoter hypermethylation in blood leukocytes of Europeans with juvenile myoclonic epilepsy.

Epilepsia 2019 Feb 4. Epub 2019 Feb 4.

Cologne Center for Genomics, University of Cologne, Cologne, Germany.

Juvenile myoclonic epilepsy (JME) is a common syndrome of genetic generalized epilepsies (GGEs). Linkage and association studies suggest that the gene encoding the bromodomain-containing protein 2 (BRD2) may increase risk of JME. The present methylation and association study followed up a recent report highlighting that the BRD2 promoter CpG island (CpG76) is differentially hypermethylated in lymphoblastoid cells from Caucasian patients with JME compared to patients with other GGE subtypes and unaffected relatives. Read More

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http://dx.doi.org/10.1111/epi.14657DOI Listing
February 2019
2 Reads

Identification of Everyday Sounds Perceived as Noise by Migraine Patients.

Intern Med 2019 Feb 1. Epub 2019 Feb 1.

Department of Neurology, Dokkyo Medical University, Japan.

Objectives Sound hypersensitivity is highly comorbid with migraine headaches. To elucidate the pathogenic mechanism of migraine attacks, we must first identify the types of everyday environmental sounds they perceive as unpleasant and clarify the acoustic properties of such sounds. This study aimed to clarify the true nature of "noise," i. Read More

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http://dx.doi.org/10.2169/internalmedicine.2206-18DOI Listing
February 2019

A probabilistic model for reducing medication errors: A sensitivity analysis using Electronic Health Records data.

Comput Methods Programs Biomed 2019 Mar 30;170:31-38. Epub 2018 Dec 30.

Graduate Institute of Biomedical Informatics, College of Medical Science & Technology, Taipei Medical University, Taipei, Taiwan; International Center for Health Information Technology, Taipei Medical University, Taipei, Taiwan; Department of Dermatology, Taipei Medical University Wan-Fang Hospital, Taipei, Taiwan. Electronic address:

Objectives: Medication-related clinical decision support systems have already been considered as a sophisticated method to improve healthcare quality, however, its importance has not been fully recognized. This paper's aim was to validate an existing probabilistic model that can automatically identify medication errors by performing a sensitivity analysis from electronic medical record data.

Methods: We first built a knowledge base that consisted of 2. Read More

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http://dx.doi.org/10.1016/j.cmpb.2018.12.033DOI Listing

Resting state network modularity along the prodromal late onset Alzheimer's disease continuum.

Neuroimage Clin 2019 Jan 22;22:101687. Epub 2019 Jan 22.

Department of Radiology and Imaging Sciences, Indiana University School of Medicine (IUSM), Indianapolis, IN, USA; Indiana Alzheimer Disease Center, IUSM, Indianapolis, IN, USA; Indiana University Network Science Institute, Bloomington, IN, USA; School of Informatics, Computing and Engineering, Indiana University, Bloomington, IN, USA; Program in Medical Neuroscience, Paul and Carole Stark Neurosciences Research Institute, Indiana University School of Medicine, Indianapolis, IN, USA; Department of Psychological and Brain Sciences, Indiana University, Bloomington, IN, USA. Electronic address:

Alzheimer's disease is considered a disconnection syndrome, motivating the use of brain network measures to detect changes in whole-brain resting state functional connectivity (FC). We investigated changes in FC within and among resting state networks (RSN) across four different stages in the Alzheimer's disease continuum. FC changes were examined in two independent cohorts of individuals (84 and 58 individuals, respectively) each comprising control, subjective cognitive decline, mild cognitive impairment and Alzheimer's dementia groups. Read More

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http://dx.doi.org/10.1016/j.nicl.2019.101687DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6357852PMC
January 2019
4 Reads

Artificial Intelligence Transforms the Future of Healthcare.

Am J Med 2019 Jan 30. Epub 2019 Jan 30.

Biocomplexity Institute, Virginia Tech, 1015 Life Sciences Circle, Blacksburg, VA, 24060, USA; Biomedical and Translational Informatics Institute, Geisinger Health System, 100 N Academy Ave, Danville, PA, 17822, USA.

Life sciences researchers using Artificial Intelligence are under pressure to innovate faster than ever. Large, multilevel, and integrated datasets offer the promise of unlocking novel insights and accelerating breakthroughs. Although more data are available than ever, only a fraction is being curated, integrated, understood, and analyzed. Read More

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http://dx.doi.org/10.1016/j.amjmed.2019.01.017DOI Listing
January 2019

Transcriptome-wide association study identifies new candidate susceptibility genes for glioma.

Cancer Res 2019 Feb 1. Epub 2019 Feb 1.

Division of Genetics and Epidemiology, Institute of Cancer Research.

Genome-wide association studies (GWAS) have so far identified 25 loci associated with glioma risk, with most showing specificity for either glioblastoma (GBM) or non-GBM tumors. The majority of these GWAS susceptibility variants reside in non-coding regions and the causal genes underlying the associations are largely unknown. Here we performed a transcriptome-wide association study to search for novel risk loci and candidate causal genes at known GWAS loci using Genotype-Tissue Expression Project (GTEx) data to predict cis-predicted gene expression in relation to GBM and non-GBM risk in conjunction with GWAS summary statistics on 12,488 glioma cases (6,183 GBM, 5,820 non-GBM) and 18,169 controls. Read More

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http://dx.doi.org/10.1158/0008-5472.CAN-18-2888DOI Listing
February 2019

Correction: Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia.

Authors:
Ida E Sønderby Ómar Gústafsson Nhat Trung Doan Derrek P Hibar Sandra Martin-Brevet Abdel Abdellaoui David Ames Katrin Amunts Michael Andersson Nicola J Armstrong Manon Bernard Nicholas Blackburn John Blangero Dorret I Boomsma Janita Bralten Hans-Richard Brattbak Henry Brodaty Rachel M Brouwer Robin Bülow Vince Calhoun Svenja Caspers Gianpiero Cavalleri Chi-Hua Chen Sven Cichon Simone Ciufolini Aiden Corvin Benedicto Crespo-Facorro Joanne E Curran Anders M Dale Shareefa Dalvie Paola Dazzan Eco J C de Geus Greig I de Zubicaray Sonja M C de Zwarte Norman Delanty Anouk den Braber Sylvane Desrivières Gary Donohoe Bogdan Draganski Stefan Ehrlich Thomas Espeseth Simon E Fisher Barbara Franke Vincent Frouin Masaki Fukunaga Thomas Gareau David C Glahn Hans Grabe Nynke A Groenewold Jan Haavik Asta Håberg Ryota Hashimoto Jayne Y Hehir-Kwa Andreas Heinz Manon H J Hillegers Per Hoffmann Laurena Holleran Jouke-Jan Hottenga Hilleke E Hulshoff Masashi Ikeda Neda Jahanshad Terry Jernigan Christiane Jockwitz Stefan Johansson Gudrun A Jonsdottir Erik G Jönsson Rene Kahn Tobias Kaufmann Sinead Kelly Masataka Kikuchi Emma E M Knowles Knut K Kolskår John B Kwok Stephanie Le Hellard Costin Leu Jingyu Liu Astri J Lundervold Arvid Lundervold Nicholas G Martin Karen Mather Samuel R Mathias Mark McCormack Katie L McMahon Allan McRae Yuri Milaneschi Clara Moreau Derek Morris David Mothersill Thomas W Mühleisen Robin Murray Jan E Nordvik Lars Nyberg Loes M Olde Loohuis Roel Ophoff Tomas Paus Zdenka Pausova Brenda Penninx Juan M Peralta Bruce Pike Carlos Prieto Sara Pudas Erin Quinlan Daniel S Quintana Céline S Reinbold Tiago Reis Marques Alexandre Reymond Genevieve Richard Borja Rodriguez-Herreros Roberto Roiz-Santiañez Jarek Rokicki James Rucker Perminder Sachdev Anne-Marthe Sanders Sigrid B Sando Lianne Schmaal Peter R Schofield Andrew J Schork Gunter Schumann Jean Shin Elena Shumskaya Sanjay Sisodiya Vidar M Steen Dan J Stein Stacy Steinberg Lachlan Strike Alexander Teumer Anbu Thalamuthu Diana Tordesillas-Gutierrez Jessica Turner Torill Ueland Anne Uhlmann Magnus O Ulfarsson Dennis van 't Ent Dennis van der Meer Neeltje E M van Haren Anja Vaskinn Evangelos Vassos G Bragi Walters Yunpeng Wang Wei Wen Christopher D Whelan Katharina Wittfeld Margie Wright Hidenaga Yamamori Tetyana Zayats Ingrid Agartz Lars T Westlye Sébastien Jacquemont Srdjan Djurovic Hreinn Stefánsson Kári Stefánsson Paul Thompson Ole A Andreassen

Mol Psychiatry 2019 Jan 31. Epub 2019 Jan 31.

NORMENT, K.G. Jebsen Centre for Psychosis Research, Institute of Clinical Medicine, University of Oslo and Division of Mental Health and Addiction, Oslo University Hospital, Oslo, Norway.

Prior to and following the publication of this article the authors noted that the complete list of authors was not included in the main article and was only present in Supplementary Table 1. The author list in the original article has now been updated to include all authors, and Supplementary Table 1 has been removed. All other supplementary files have now been updated accordingly. Read More

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http://dx.doi.org/10.1038/s41380-019-0358-8DOI Listing
January 2019
3 Reads
14.496 Impact Factor

A PheWAS study of a large observational epidemiological cohort of African Americans from the REGARDS study.

BMC Med Genomics 2019 Jan 31;12(Suppl 1):26. Epub 2019 Jan 31.

School of Biomedical Informatics, The University of Texas Health Science Center at Houston, Houston, TX, 77030, USA.

Background: Cardiovascular disease, diabetes, and kidney disease are among the leading causes of death and disability worldwide. However, knowledge of genetic determinants of those diseases in African Americans remains limited.

Results: In our study, associations between 4956 GWAS catalog reported SNPs and 67 traits were examined among 7726 African Americans from the REasons for Geographic and Racial Differences in Stroke (REGARDS) study, which is focused on identifying factors that increase stroke risk. Read More

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http://dx.doi.org/10.1186/s12920-018-0462-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6357353PMC
January 2019

Identifying Parkinson's disease and parkinsonism cases using routinely collected healthcare data: A systematic review.

PLoS One 2019 31;14(1):e0198736. Epub 2019 Jan 31.

Centre for Clinical Brain Sciences, University of Edinburgh, Edinburgh, United Kingdom.

Background: Population-based, prospective studies can provide important insights into Parkinson's disease (PD) and other parkinsonian disorders. Participant follow-up in such studies is often achieved through linkage to routinely collected healthcare datasets. We systematically reviewed the published literature on the accuracy of these datasets for this purpose. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0198736PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6354966PMC
January 2019

State-level prevalence, health service use, and spending vary widely among Medicare beneficiaries with Parkinson disease.

NPJ Parkinsons Dis 2019 24;5. Epub 2019 Jan 24.

2Department of Neurology, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA USA.

State-level variations in disease, healthcare utilization, and spending influence healthcare planning at federal and state levels and should be examined to understand national disparities in health outcomes. This descriptive study examined state-level variations in Parkinson disease (PD) prevalence, patient characteristics, Medicare spending, out-of-pocket costs, and health service utilization using data on 27.5 million Medicare beneficiaries in the US in 2014. Read More

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http://www.nature.com/articles/s41531-019-0074-8
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http://dx.doi.org/10.1038/s41531-019-0074-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6345811PMC
January 2019
3 Reads

Characterization of a novel microRNA, miR-188, elevated in serum of muscular dystrophy dog model.

PLoS One 2019 30;14(1):e0211597. Epub 2019 Jan 30.

Department of Molecular Therapy, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan.

MicroRNAs (miRNAs) are non-coding small RNAs that regulate gene expression at the post-transcriptional level. Several miRNAs are exclusively expressed in skeletal muscle and participate in the regulation of muscle differentiation by interacting with myogenic factors. These miRNAs can be found at high levels in the serum of patients and animal models for Duchenne muscular dystrophy, which is expected to be useful as biomarkers for their clinical conditions. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0211597PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6353185PMC
January 2019
1 Read

Multi-Ancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions.

Authors:
Paul S de Vries Michael R Brown Amy R Bentley Yun J Sung Thomas W Winkler Ioanna Ntalla Karen Schwander Aldi T Kraja Xiuqing Guo Nora Franceschini Ching-Yu Cheng Xueling Sim Dina Vojinovic Jennifer E Huffman Solomon K Musani Changwei Li Mary F Feitosa Melissa A Richard Raymond Noordam Hugues Aschard Traci M Bartz Lawrence F Bielak Xuan Deng Rajkumar Dorajoo Kurt K Lohman Alisa K Manning Tuomo Rankinen Albert V Smith Salman M Tajuddin Evangelos Evangelou Mariaelisa Graff Maris Alver Mathilde Boissel Jin Fang Chai Xu Chen Jasmin Divers Ilaria Gandin Chuan Gao Anuj Goel Yanick Hagemeijer Sarah E Harris Fernando P Hartwig Meian He Andrea R V R Horimoto Fang-Chi Hsu Anne U Jackson Anuradhani Kasturiratne Pirjo Komulainen Brigitte Kühnel Federica Laguzzi Joseph H Lee Jian'an Luan Leo-Pekka Lyytikäinen Nana Matoba Ilja M Nolte Maik Pietzner Muhammad Riaz M Abdullah Said Robert A Scott Tamar Sofer Alena Stancáková Fumihiko Takeuchi Bamidele O Tayo Peter J van der Most Tibor V Varga Yajuan Wang Erin B Ware Wanqing Wen Lisa R Yanek Weihua Zhang Jing Hua Zhao Saima Afaq Najaf Amin Marzyeh Amini Dan E Arking Tin Aung Christie Ballantyne Eric Boerwinkle Ulrich Broeckel Archie Campbell Mickaël Canouil Sabanayagam Charumathi Yii-Der Ida Chen John M Connell Ulf de Faire Lisa de Las Fuentes Renée de Mutsert H Janaka de Silva Jingzhong Ding Anna F Dominiczak Qing Duan Charles B Eaton Ruben N Eppinga Jessica D Faul Virginia Fisher Terrence Forrester Oscar H Franco Yechiel Friedlander Mohsen Ghanbari Franco Giulianini Hans J Grabe Megan L Grove C Charles Gu Tamara B Harris Sami Heikkinen Chew-Kiat Heng Makoto Hirata James E Hixson Barbara V Howard M Arfan Ikram David R Jacobs Craig Johnson Jost Bruno Jonas Candace M Kammerer Tomohiro Katsuya Chiea Chuen Khor Tuomas O Kilpeläinen Woon-Puay Koh Heikki A Koistinen Ivana Kolcic Charles Kooperberg Jose E Krieger Steve B Kritchevsky Michiaki Kubo Johanna Kuusisto Timo A Lakka Carl D Langefeld Claudia Langenberg Lenore J Launer Benjamin Lehne Rozenn N Lemaitre Yize Li Jingjing Liang Jianjun Liu Kiang Liu Marie Loh Tin Louie Reedik Mägi Ani W Manichaikul Colin A McKenzie Thomas Meitinger Andres Metspalu Yuri Milaneschi Lili Milani Karen L Mohlke Thomas H Mosley Kenneth J Mukamal Mike A Nalls Matthias Nauck Christopher P Nelson Nona Sotoodehnia Jeff R O'Connell Nicholette D Palmer Raha Pazoki Nancy L Pedersen Annette Peters Patricia A Peyser Ozren Polasek Neil Poulter Leslie J Raffel Olli T Raitakari Alex P Reiner Treva K Rice Stephen S Rich Antonietta Robino Jennifer G Robinson Lynda M Rose Igor Rudan Carsten O Schmidt Pamela J Schreiner William R Scott Peter Sever Yuan Shi Stephen Sidney Mario Sims Blair H Smith Jennifer A Smith Harold Snieder John M Starr Konstantin Strauch Nicholas Tan Kent D Taylor Yik Ying Teo Yih Chung Tham André G Uitterlinden Diana van Heemst Dragana Vuckovic Melanie Waldenberger Lihua Wang Yujie Wang Zhe Wang Wen Bin Wei Christine Williams Gregory Wilson Mary K Wojczynski Jie Yao Bing Yu Caizheng Yu Jian-Min Yuan Wei Zhao Alan B Zonderman Diane M Becker Michael Boehnke Donald W Bowden John C Chambers Ian J Deary Tõnu Esko Martin Farrall Paul W Franks Barry I Freedman Philippe Froguel Paolo Gasparini Christian Gieger Bernardo L Horta Yoichiro Kamatani Norihiro Kato Jaspal S Kooner Markku Laakso Karin Leander Terho Lehtimäki Patrik K E Magnusson Brenda Penninx Alexandre C Pereira Rainer Rauramaa Nilesh J Samani James Scott Xiao-Ou Shu Pim van der Harst Lynne E Wagenknecht Ya Xing Wang Nicholas J Wareham Hugh Watkins David R Weir Ananda R Wickremasinghe Wei Zheng Paul Elliott Kari E North Claude Bouchard Michele K Evans Vilmundur Gudnason Ching-Ti Liu Yongmei Liu Bruce M Psaty Paul M Ridker Rob M van Dam Sharon L R Kardia Xiaofeng Zhu Charles N Rotimi Dennis O Mook-Kanamori Myriam Fornage Tanika N Kelly Ervin R Fox Caroline Hayward Cornelia M van Duijn E Shyong Tai Tien Yin Wong Jingmin Liu Jerome I Rotter W James Gauderman Michael A Province Patricia B Munroe Kenneth Rice Daniel I Chasman L Adrienne Cupples Dabeeru C Rao Alanna C Morrison

Am J Epidemiol 2019 Jan 29. Epub 2019 Jan 29.

Human Genetics Center, Department of Epidemiology, Human Genetics, and Environmental Sciences, School of Public Health, The University of Texas Health Science Center at Houston, Houston, Texas.

An individual's lipid profile is influenced by genetic variants and alcohol consumption, but the contribution of interactions between these exposures has not been studied. We therefore incorporated gene-alcohol interactions into a multi-ancestry genome-wide association study of levels of high-density lipoprotein cholesterol, low-density lipoprotein cholesterol, and triglycerides. We included 45 studies in Stage 1 (genome-wide discovery) and 66 studies in Stage 2 (focused follow-up), for a total of 394,584 individuals from five ancestry groups. Read More

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https://academic.oup.com/aje/advance-article/doi/10.1093/aje
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http://dx.doi.org/10.1093/aje/kwz005DOI Listing
January 2019
7 Reads
5.230 Impact Factor

Outcome and prognostic factors following palliative craniospinal irradiation for leptomeningeal carcinomatosis.

Cancer Manag Res 2019 17;11:789-801. Epub 2019 Jan 17.

Department of Radiation Oncology, Heidelberg University Hospital, Heidelberg 69120, Germany,

Background: Leptomeningeal carcinomatosis (LC) is a severe complication of metastatic tumor spread to the central nervous system. Prognosis is dismal with a median overall survival (OS) of ~10-15 weeks. Treatment options include radiotherapy (RT) to involved sites, systemic chemo- or targeted therapy, intrathecal chemotherapy and best supportive care with dexamethasone. Read More

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http://dx.doi.org/10.2147/CMAR.S182154DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6340499PMC
January 2019
1 Read

Frequency and predictors of the potential overprescribing of antidepressants in elderly residents of a geographically defined U.S. population.

Pharmacol Res Perspect 2019 02 23;7(1):e00461. Epub 2019 Jan 23.

Department of Psychiatry & Psychology Mayo Clinic Rochester Minnesota.

The purpose of this study was to estimate the extent of potential antidepressant overprescribing in a geographically defined U.S. population, and to determine the indications and factors that account for it. Read More

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http://dx.doi.org/10.1002/prp2.461DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6344796PMC
February 2019

Genetic and phenotypic landscape of the major histocompatibilty complex region in the Japanese population.

Nat Genet 2019 Jan 28. Epub 2019 Jan 28.

Department of Statistical Genetics, Osaka University Graduate School of Medicine, Suita, Japan.

To perform detailed fine-mapping of the major-histocompatibility-complex region, we conducted next-generation sequencing (NGS)-based typing of the 33 human leukocyte antigen (HLA) genes in 1,120 individuals of Japanese ancestry, providing a high-resolution allele catalog and linkage-disequilibrium structure of both classical and nonclassical HLA genes. Together with population-specific deep-whole-genome-sequencing data (n = 1,276), we conducted NGS-based HLA, single-nucleotide-variant and indel imputation of large-scale genome-wide-association-study data from 166,190 Japanese individuals. A phenome-wide association study assessing 106 clinical phenotypes identified abundant, significant genotype-phenotype associations across 52 phenotypes. Read More

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http://dx.doi.org/10.1038/s41588-018-0336-0DOI Listing
January 2019
1 Read

Identification of a pathogenic mutation in ATP2A1 via in silico analysis of exome data for cryptic aberrant splice sites.

Mol Genet Genomic Med 2019 Jan 28:e552. Epub 2019 Jan 28.

Division of Pediatric Neurology, Department of Pediatrics, University of Florida College of Medicine, Gainesville, Florida.

Background: Pathogenic mutations causing aberrant splicing are often difficult to detect. Standard variant analysis of next-generation sequence (NGS) data focuses on canonical splice sites. Noncanonical splice sites are more difficult to ascertain. Read More

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http://dx.doi.org/10.1002/mgg3.552DOI Listing
January 2019

Shared heritability and functional enrichment across six solid cancers.

Authors:
Xia Jiang Hilary K Finucane Fredrick R Schumacher Stephanie L Schmit Jonathan P Tyrer Younghun Han Kyriaki Michailidou Corina Lesseur Karoline B Kuchenbaecker Joe Dennis David V Conti Graham Casey Mia M Gaudet Jeroen R Huyghe Demetrius Albanes Melinda C Aldrich Angeline S Andrew Irene L Andrulis Hoda Anton-Culver Antonis C Antoniou Natalia N Antonenkova Susanne M Arnold Kristan J Aronson Banu K Arun Elisa V Bandera Rosa B Barkardottir Daniel R Barnes Jyotsna Batra Matthias W Beckmann Javier Benitez Sara Benlloch Andrew Berchuck Sonja I Berndt Heike Bickeböller Stephanie A Bien Carl Blomqvist Stefania Boccia Natalia V Bogdanova Stig E Bojesen Manjeet K Bolla Hiltrud Brauch Hermann Brenner James D Brenton Mark N Brook Joan Brunet Hans Brunnström Daniel D Buchanan Barbara Burwinkel Ralf Butzow Gabriella Cadoni Trinidad Caldés Maria A Caligo Ian Campbell Peter T Campbell Géraldine Cancel-Tassin Lisa Cannon-Albright Daniele Campa Neil Caporaso André L Carvalho Andrew T Chan Jenny Chang-Claude Stephen J Chanock Chu Chen David C Christiani Kathleen B M Claes Frank Claessens Judith Clements J Margriet Collée Marcia Cruz Correa Fergus J Couch Angela Cox Julie M Cunningham Cezary Cybulski Kamila Czene Mary B Daly Anna deFazio Peter Devilee Orland Diez Manuela Gago-Dominguez Jenny L Donovan Thilo Dörk Eric J Duell Alison M Dunning Miriam Dwek Diana M Eccles Christopher K Edlund Digna R Velez Edwards Carolina Ellberg D Gareth Evans Peter A Fasching Robert L Ferris Triantafillos Liloglou Jane C Figueiredo Olivia Fletcher Renée T Fortner Florentia Fostira Silvia Franceschi Eitan Friedman Steven J Gallinger Patricia A Ganz Judy Garber José A García-Sáenz Simon A Gayther Graham G Giles Andrew K Godwin Mark S Goldberg David E Goldgar Ellen L Goode Marc T Goodman Gary Goodman Kjell Grankvist Mark H Greene Henrik Gronberg Jacek Gronwald Pascal Guénel Niclas Håkansson Per Hall Ute Hamann Freddie C Hamdy Robert J Hamilton Jochen Hampe Aage Haugen Florian Heitz Rolando Herrero Peter Hillemanns Michael Hoffmeister Estrid Høgdall Yun-Chul Hong John L Hopper Richard Houlston Peter J Hulick David J Hunter David G Huntsman Gregory Idos Evgeny N Imyanitov Sue Ann Ingles Claudine Isaacs Anna Jakubowska Paul James Mark A Jenkins Mattias Johansson Mikael Johansson Esther M John Amit D Joshi Radka Kaneva Beth Y Karlan Linda E Kelemen Tabea Kühl Kay-Tee Khaw Elza Khusnutdinova Adam S Kibel Lambertus A Kiemeney Jeri Kim Susanne K Kjaer Julia A Knight Manolis Kogevinas Zsofia Kote-Jarai Stella Koutros Vessela N Kristensen Jolanta Kupryjanczyk Martin Lacko Stephan Lam Diether Lambrechts Maria Teresa Landi Philip Lazarus Nhu D Le Eunjung Lee Flavio Lejbkowicz Heinz-Josef Lenz Goska Leslie Davor Lessel Jenny Lester Douglas A Levine Li Li Christopher I Li Annika Lindblom Noralane M Lindor Geoffrey Liu Fotios Loupakis Jan Lubiński Lovise Maehle Christiane Maier Arto Mannermaa Loic Le Marchand Sara Margolin Taymaa May Lesley McGuffog Alfons Meindl Pooja Middha Austin Miller Roger L Milne Robert J MacInnis Francesmary Modugno Marco Montagna Victor Moreno Kirsten B Moysich Lorelei Mucci Kenneth Muir Anna Marie Mulligan Katherine L Nathanson David E Neal Andrew R Ness Susan L Neuhausen Heli Nevanlinna Polly A Newcomb Lisa F Newcomb Finn Cilius Nielsen Liene Nikitina-Zake Børge G Nordestgaard Robert L Nussbaum Kenneth Offit Edith Olah Ali Amin Al Olama Olufunmilayo I Olopade Andrew F Olshan Håkan Olsson Ana Osorio Hardev Pandha Jong Y Park Nora Pashayan Michael T Parsons Tanja Pejovic Kathryn L Penney Wilbert H M Peters Catherine M Phelan Amanda I Phipps Dijana Plaseska-Karanfilska Miranda Pring Darya Prokofyeva Paolo Radice Kari Stefansson Susan J Ramus Leon Raskin Gad Rennert Hedy S Rennert Elizabeth J van Rensburg Marjorie J Riggan Harvey A Risch Angela Risch Monique J Roobol Barry S Rosenstein Mary Anne Rossing Kim De Ruyck Emmanouil Saloustros Dale P Sandler Elinor J Sawyer Matthew B Schabath Johanna Schleutker Marjanka K Schmidt V Wendy Setiawan Hongbing Shen Erin M Siegel Weiva Sieh Christian F Singer Martha L Slattery Karina Dalsgaard Sorensen Melissa C Southey Amanda B Spurdle Janet L Stanford Victoria L Stevens Sebastian Stintzing Jennifer Stone Karin Sundfeldt Rebecca Sutphen Anthony J Swerdlow Eloiza H Tajara Catherine M Tangen Adonina Tardon Jack A Taylor M Dawn Teare Manuel R Teixeira Mary Beth Terry Kathryn L Terry Stephen N Thibodeau Mads Thomassen Line Bjørge Marc Tischkowitz Amanda E Toland Diana Torres Paul A Townsend Ruth C Travis Nadine Tung Shelley S Tworoger Cornelia M Ulrich Nawaid Usmani Celine M Vachon Els Van Nieuwenhuysen Ana Vega Miguel Elías Aguado-Barrera Qin Wang Penelope M Webb Clarice R Weinberg Stephanie Weinstein Mark C Weissler Jeffrey N Weitzel Catharine M L West Emily White Alice S Whittemore H-Erich Wichmann Fredrik Wiklund Robert Winqvist Alicja Wolk Penella Woll Michael Woods Anna H Wu Xifeng Wu Drakoulis Yannoukakos Wei Zheng Shanbeh Zienolddiny Argyrios Ziogas Kristin K Zorn Jacqueline M Lane Richa Saxena Duncan Thomas Rayjean J Hung Brenda Diergaarde James McKay Ulrike Peters Li Hsu Montserrat García-Closas Rosalind A Eeles Georgia Chenevix-Trench Paul J Brennan Christopher A Haiman Jacques Simard Douglas F Easton Stephen B Gruber Paul D P Pharoah Alkes L Price Bogdan Pasaniuc Christopher I Amos Peter Kraft Sara Lindström

Nat Commun 2019 01 25;10(1):431. Epub 2019 Jan 25.

Public Health Sciences Division, Fred Hutchinson Cancer Research Center, 1100 Fairview Ave. N., Seattle, WA, 98109-1024, USA.

Quantifying the genetic correlation between cancers can provide important insights into the mechanisms driving cancer etiology. Using genome-wide association study summary statistics across six cancer types based on a total of 296,215 cases and 301,319 controls of European ancestry, here we estimate the pair-wise genetic correlations between breast, colorectal, head/neck, lung, ovary and prostate cancer, and between cancers and 38 other diseases. We observed statistically significant genetic correlations between lung and head/neck cancer (r = 0. Read More

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http://dx.doi.org/10.1038/s41467-018-08054-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6347624PMC
January 2019
5 Reads
10.742 Impact Factor

Palliative Radiotherapy for Leptomeningeal Carcinomatosis-Analysis of Outcome, Prognostic Factors, and Symptom Response.

Front Oncol 2018 8;8:641. Epub 2019 Jan 8.

Department of Radiation Oncology, Heidelberg University Hospital, Heidelberg, Germany.

The purpose of this article is to report our institution's 10-year experience on palliative radiotherapy for the treatment of leptomeningeal carcinomatosis (LC), assessing survival, neurologic outcome, and prognostic factors. We retrospectively analyzed 110 patients who received palliative radiotherapy for LC between 2008 and 2018. The most common histologies were breast cancer ( = 43, 39. Read More

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http://dx.doi.org/10.3389/fonc.2018.00641DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6331444PMC
January 2019
1 Read

An Empirical Comparison of Meta- and Mega-Analysis With Data From the ENIGMA Obsessive-Compulsive Disorder Working Group.

Front Neuroinform 2018 8;12:102. Epub 2019 Jan 8.

Department of Epidemiology and Biostatistics, Amsterdam Public Health Research Institute, Amsterdam University Medical Centers, Vrije Universiteit Amsterdam, Amsterdam, Netherlands.

Brain imaging communities focusing on different diseases have increasingly started to collaborate and to pool data to perform well-powered meta- and mega-analyses. Some methodologists claim that a one-stage individual-participant data (IPD) mega-analysis can be superior to a two-stage aggregated data meta-analysis, since more detailed computations can be performed in a mega-analysis. Before definitive conclusions regarding the performance of either method can be drawn, it is necessary to critically evaluate the methodology of, and results obtained by, meta- and mega-analyses. Read More

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https://www.frontiersin.org/article/10.3389/fninf.2018.00102
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http://dx.doi.org/10.3389/fninf.2018.00102DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6331928PMC
January 2019
5 Reads

Sleep and cognitive ageing in the 8th decade of life.

Sleep 2019 Jan 19. Epub 2019 Jan 19.

Centre for Cognitive Ageing and Cognitive Epidemiology, University of Edinburgh, UK.

We examined associations between self-reported sleep measures and cognitive level and change (age 70-76 years) in a longitudinal, same-year-of-birth cohort study (baseline N = 1,091; longitudinal N = 664). We also leveraged GWAS summary data to ascertain whether polygenic scores (PGS) of chronotype and sleep duration related to self-reported sleep, and to cognitive level and change. Shorter sleep latency was associated with significantly higher levels of visuospatial ability, processing speed, and verbal memory (β ≥ |0. Read More

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http://dx.doi.org/10.1093/sleep/zsz019DOI Listing
January 2019

Genetic Imbalance Is Associated With Functional Outcome After Ischemic Stroke.

Stroke 2019 Feb;50(2):298-304

Department of Clinical Sciences Lund, Neurology, Lund University, Sweden (M.S., A.L.).

Background and Purpose- We sought to explore the effect of genetic imbalance on functional outcome after ischemic stroke (IS). Methods- Copy number variation was identified in high-density single-nucleotide polymorphism microarray data of IS patients from the CADISP (Cervical Artery Dissection and Ischemic Stroke Patients) and SiGN (Stroke Genetics Network)/GISCOME (Genetics of Ischaemic Stroke Functional Outcome) networks. Genetic imbalance, defined as total number of protein-coding genes affected by copy number variations in an individual, was compared between patients with favorable (modified Rankin Scale score of 0-2) and unfavorable (modified Rankin Scale score of ≥3) outcome after 3 months. Read More

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https://www.ahajournals.org/doi/10.1161/STROKEAHA.118.021856
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http://dx.doi.org/10.1161/STROKEAHA.118.021856DOI Listing
February 2019
13 Reads

Herpesviridae Seropositivity in Patients with Multiple Sclerosis: First Polish Study.

Eur Neurol 2019 Jan 18;80(5-6):129-135. Epub 2019 Jan 18.

Department of Neurology, Medical University of Białystok, Białystok, Poland.

Background: Multiple sclerosis (MS) is a chronic autoimmune disease of the central nervous system that leads to inflammation, demyelination and neurodegeneration. Viral aetiology has been suspected to be an MS trigger for a long time, and herpesviruses (HSs) are among the potential pathogens involved.

Objectives: The present investigation aims to detect the presence of antibodies against the herpes simplex virus (HSV), varicella-zoster virus, Epstein-Barr virus (EBV), human cytomegalovirus (CMV) and human herpesvirus 6 (HHV6) in the serum of MS patients and control individuals in north-eastern Poland. Read More

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http://dx.doi.org/10.1159/000496402DOI Listing
January 2019
3 Reads

Patterns of functional connectivity in an aging population: The Rotterdam Study.

Neuroimage 2019 Jan 16;189:432-444. Epub 2019 Jan 16.

Department of Radiology and Nuclear Medicine, Erasmus MC University Medical Centre Rotterdam, the Netherlands; Department of Epidemiology, Erasmus MC University Medical Centre Rotterdam, the Netherlands. Electronic address:

Structural brain markers are studied extensively in the field of neurodegeneration, but are thought to occur rather late in the process. Functional measures such as functional connectivity are gaining interest as potentially more subtle markers of neurodegeneration. However, brain structure and function are also affected by 'normal' brain ageing. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S10538119193004
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http://dx.doi.org/10.1016/j.neuroimage.2019.01.041DOI Listing
January 2019
6 Reads
6.357 Impact Factor

The KEEP SIMPLEST Study: Improving In-House Delays and Periinterventional Management in Stroke Thrombectomy-A Matched Pair Analysis.

Neurocrit Care 2019 Jan 18. Epub 2019 Jan 18.

Department of Neurology, Heidelberg University Hospital, Im Neuenheimer Feld 400, 69120, Heidelberg, Germany.

Background And Purpose: Although the treatment window for mechanical thrombectomy (MT) in patients with acute ischemic stroke (AIS) has been extended in recent years, it has been proven that recanalizing treatment must be administered as soon as possible. We present a new standard operating procedure (SOP) to reduce in-house delay, standardize periinterventional management and improve patient safety during MT.

Methods: KEep Evaluating Protocol Simplification In Managing Periinterventional Light Sedation for Endovascular Stroke Treatment (KEEP SIMPLEST) was a prospective, single-center observational study aimed to compare aspects of periinterventional management in AIS patients treated according to our new SOP using a combination of esketamine and propofol with patients having been randomized into conscious sedation (CS) in the Sedation versus Intubation for Endovascular Stroke TreAtment (SIESTA) trial. Read More

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http://dx.doi.org/10.1007/s12028-018-00667-3DOI Listing
January 2019
1 Read