8,135 results match your criteria Medical Informatics in Neurology


Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes.

Authors:
Nasim Mavaddat Kyriaki Michailidou Joe Dennis Michael Lush Laura Fachal Andrew Lee Jonathan P Tyrer Ting-Huei Chen Qin Wang Manjeet K Bolla Xin Yang Muriel A Adank Thomas Ahearn Kristiina Aittomäki Jamie Allen Irene L Andrulis Hoda Anton-Culver Natalia N Antonenkova Volker Arndt Kristan J Aronson Paul L Auer Päivi Auvinen Myrto Barrdahl Laura E Beane Freeman Matthias W Beckmann Sabine Behrens Javier Benitez Marina Bermisheva Leslie Bernstein Carl Blomqvist Natalia V Bogdanova Stig E Bojesen Bernardo Bonanni Anne-Lise Børresen-Dale Hiltrud Brauch Michael Bremer Hermann Brenner Adam Brentnall Ian W Brock Angela Brooks-Wilson Sara Y Brucker Thomas Brüning Barbara Burwinkel Daniele Campa Brian D Carter Jose E Castelao Stephen J Chanock Rowan Chlebowski Hans Christiansen Christine L Clarke J Margriet Collée Emilie Cordina-Duverger Sten Cornelissen Fergus J Couch Angela Cox Simon S Cross Kamila Czene Mary B Daly Peter Devilee Thilo Dörk Isabel Dos-Santos-Silva Martine Dumont Lorraine Durcan Miriam Dwek Diana M Eccles Arif B Ekici A Heather Eliassen Carolina Ellberg Christoph Engel Mikael Eriksson D Gareth Evans Peter A Fasching Jonine Figueroa Olivia Fletcher Henrik Flyger Asta Försti Lin Fritschi Marike Gabrielson Manuela Gago-Dominguez Susan M Gapstur José A García-Sáenz Mia M Gaudet Vassilios Georgoulias Graham G Giles Irina R Gilyazova Gord Glendon Mark S Goldberg David E Goldgar Anna González-Neira Grethe I Grenaker Alnæs Mervi Grip Jacek Gronwald Anne Grundy Pascal Guénel Lothar Haeberle Eric Hahnen Christopher A Haiman Niclas Håkansson Ute Hamann Susan E Hankinson Elaine F Harkness Steven N Hart Wei He Alexander Hein Jane Heyworth Peter Hillemanns Antoinette Hollestelle Maartje J Hooning Robert N Hoover John L Hopper Anthony Howell Guanmengqian Huang Keith Humphreys David J Hunter Milena Jakimovska Anna Jakubowska Wolfgang Janni Esther M John Nichola Johnson Michael E Jones Arja Jukkola-Vuorinen Audrey Jung Rudolf Kaaks Katarzyna Kaczmarek Vesa Kataja Renske Keeman Michael J Kerin Elza Khusnutdinova Johanna I Kiiski Julia A Knight Yon-Dschun Ko Veli-Matti Kosma Stella Koutros Vessela N Kristensen Ute Krüger Tabea Kühl Diether Lambrechts Loic Le Marchand Eunjung Lee Flavio Lejbkowicz Jenna Lilyquist Annika Lindblom Sara Lindström Jolanta Lissowska Wing-Yee Lo Sibylle Loibl Jirong Long Jan Lubiński Michael P Lux Robert J MacInnis Tom Maishman Enes Makalic Ivana Maleva Kostovska Arto Mannermaa Siranoush Manoukian Sara Margolin John W M Martens Maria Elena Martinez Dimitrios Mavroudis Catriona McLean Alfons Meindl Usha Menon Pooja Middha Nicola Miller Fernando Moreno Anna Marie Mulligan Claire Mulot Victor M Muñoz-Garzon Susan L Neuhausen Heli Nevanlinna Patrick Neven William G Newman Sune F Nielsen Børge G Nordestgaard Aaron Norman Kenneth Offit Janet E Olson Håkan Olsson Nick Orr V Shane Pankratz Tjoung-Won Park-Simon Jose I A Perez Clara Pérez-Barrios Paolo Peterlongo Julian Peto Mila Pinchev Dijana Plaseska-Karanfilska Eric C Polley Ross Prentice Nadege Presneau Darya Prokofyeva Kristen Purrington Katri Pylkäs Brigitte Rack Paolo Radice Rohini Rau-Murthy Gad Rennert Hedy S Rennert Valerie Rhenius Mark Robson Atocha Romero Kathryn J Ruddy Matthias Ruebner Emmanouil Saloustros Dale P Sandler Elinor J Sawyer Daniel F Schmidt Rita K Schmutzler Andreas Schneeweiss Minouk J Schoemaker Fredrick Schumacher Peter Schürmann Lukas Schwentner Christopher Scott Rodney J Scott Caroline Seynaeve Mitul Shah Mark E Sherman Martha J Shrubsole Xiao-Ou Shu Susan Slager Ann Smeets Christof Sohn Penny Soucy Melissa C Southey John J Spinelli Christa Stegmaier Jennifer Stone Anthony J Swerdlow Rulla M Tamimi William J Tapper Jack A Taylor Mary Beth Terry Kathrin Thöne Rob A E M Tollenaar Ian Tomlinson Thérèse Truong Maria Tzardi Hans-Ulrich Ulmer Michael Untch Celine M Vachon Elke M van Veen Joseph Vijai Clarice R Weinberg Camilla Wendt Alice S Whittemore Hans Wildiers Walter Willett Robert Winqvist Alicja Wolk Xiaohong R Yang Drakoulis Yannoukakos Yan Zhang Wei Zheng Argyrios Ziogas Alison M Dunning Deborah J Thompson Georgia Chenevix-Trench Jenny Chang-Claude Marjanka K Schmidt Per Hall Roger L Milne Paul D P Pharoah Antonis C Antoniou Nilanjan Chatterjee Peter Kraft Montserrat García-Closas Jacques Simard Douglas F Easton

Am J Hum Genet 2018 Dec 5. Epub 2018 Dec 5.

Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK; Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge CB1 8RN, UK.

Stratification of women according to their risk of breast cancer based on polygenic risk scores (PRSs) could improve screening and prevention strategies. Our aim was to develop PRSs, optimized for prediction of estrogen receptor (ER)-specific disease, from the largest available genome-wide association dataset and to empirically validate the PRSs in prospective studies. The development dataset comprised 94,075 case subjects and 75,017 control subjects of European ancestry from 69 studies, divided into training and validation sets. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183040
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http://dx.doi.org/10.1016/j.ajhg.2018.11.002DOI Listing
December 2018
1 Read

Recommendations for cerebrospinal fluid analysis.

Folia Microbiol (Praha) 2018 Dec 14. Epub 2018 Dec 14.

Department of Medical Biophysics and Medical Informatics, 3rd Faculty of Medicine, Charles University, Ruská 87, 100 00, Prague 10, Czech Republic.

Diseases of the central nervous system (CNS) mean for the human organism a potentially dangerous situation. An investigation of cerebrospinal fluid (CSF) provides important information about a character of CNS impairment in the decision-making diagnostic and therapeutic algorithm. The authors present a brief overview of available cerebrospinal fluid assays, shortened indication criteria, a recommended algorithm of CSF assessment in different suspected diseases, and a view of the external quality system. Read More

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http://link.springer.com/10.1007/s12223-018-0663-7
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http://dx.doi.org/10.1007/s12223-018-0663-7DOI Listing
December 2018
1 Read

Cognitive and Pathological Influences of Tau Pathology in Lewy Body Disorders.

Ann Neurol 2018 Dec 14. Epub 2018 Dec 14.

Department of Neurology, Perelman School of Medicine at the University of Pennsylvania.

Objective: To use digital histology in a large autopsy cohort of Lewy Body Disorder (LBD) patients with dementia to test the hypotheses that co-occurring Alzheimer's disease (AD) pathology impacts the anatomic distribution of α-synuclein (SYN) pathology and that co-occurring neocortical tau pathology in LBD associates with worse cognitive performance and occurs in a pattern differing from AD.

Methods: Fifty-five autopsy-confirmed LBD (PDD: 36, DLB:19) patients and 25 AD patients were studied. LBD patients were categorized as having moderate/severe AD co-pathology (SYN+AD=20) or little/no AD co-pathology (SYN-AD=35). Read More

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http://dx.doi.org/10.1002/ana.25392DOI Listing
December 2018

Using automated electronic medical record data extraction to model ALS survival and progression.

BMC Neurol 2018 Dec 14;18(1):205. Epub 2018 Dec 14.

Department of Neurology, University of Kansas Medical Center, Kansas City, USA.

Background: To assess the feasibility of using automated capture of Electronic Medical Record (EMR) data to build predictive models for amyotrophic lateral sclerosis (ALS) outcomes.

Methods: We used an Informatics for Integrating Biology and the Bedside search discovery tool to identify and extract data from 354 ALS patients from the University of Kansas Medical Center EMR. The completeness and integrity of the data extraction were verified by manual chart review. Read More

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http://dx.doi.org/10.1186/s12883-018-1208-zDOI Listing
December 2018
1 Read

Comprehensive functional genomic resource and integrative model for the human brain.

Science 2018 12;362(6420)

Program in Computational Biology and Bioinformatics, Yale University, New Haven, CT 06520, USA.

Despite progress in defining genetic risk for psychiatric disorders, their molecular mechanisms remain elusive. Addressing this, the PsychENCODE Consortium has generated a comprehensive online resource for the adult brain across 1866 individuals. The PsychENCODE resource contains ~79,000 brain-active enhancers, sets of Hi-C linkages, and topologically associating domains; single-cell expression profiles for many cell types; expression quantitative-trait loci (QTLs); and further QTLs associated with chromatin, splicing, and cell-type proportions. Read More

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http://www.sciencemag.org/lookup/doi/10.1126/science.aat8464
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http://dx.doi.org/10.1126/science.aat8464DOI Listing
December 2018
2 Reads

Transcriptome-wide isoform-level dysregulation in ASD, schizophrenia, and bipolar disorder.

Science 2018 12;362(6420)

Department of Psychiatry, Semel Institute, David Geffen School of Medicine, University of California, Los Angeles, 695 Charles E. Young Drive South, Los Angeles, CA 90095, USA.

Most genetic risk for psychiatric disease lies in regulatory regions, implicating pathogenic dysregulation of gene expression and splicing. However, comprehensive assessments of transcriptomic organization in diseased brains are limited. In this work, we integrated genotypes and RNA sequencing in brain samples from 1695 individuals with autism spectrum disorder (ASD), schizophrenia, and bipolar disorder, as well as controls. Read More

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http://www.sciencemag.org/lookup/doi/10.1126/science.aat8127
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http://dx.doi.org/10.1126/science.aat8127DOI Listing
December 2018
11 Reads

Genome-wide de novo risk score implicates promoter variation in autism spectrum disorder.

Science 2018 12;362(6420)

Department of Psychiatry, UCSF Weill Institute for Neurosciences, University of California, San Francisco, CA, USA.

Whole-genome sequencing (WGS) has facilitated the first genome-wide evaluations of the contribution of de novo noncoding mutations to complex disorders. Using WGS, we identified 255,106 de novo mutations among sample genomes from members of 1902 quartet families in which one child, but not a sibling or their parents, was affected by autism spectrum disorder (ASD). In contrast to coding mutations, no noncoding functional annotation category, analyzed in isolation, was significantly associated with ASD. Read More

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http://www.sciencemag.org/lookup/doi/10.1126/science.aat6576
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http://dx.doi.org/10.1126/science.aat6576DOI Listing
December 2018
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Reproducibility of dynamic cerebral autoregulation parameters: a multi-centre, multi-method study.

Physiol Meas 2018 Oct 22. Epub 2018 Oct 22.

Department of Neurology, University Medical Center Groningen, Groningen, NETHERLANDS.

Objective: Different methods to calculate dynamic cerebral autoregulation (dCA) parameters are available. However, most of these methods demonstrate poor reproducibility that limit their reliability for clinical use. Inter-centre differences in study protocols, modelling approaches and default parameter settings, have all led to a lack of standardisation and comparability between studies. Read More

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http://dx.doi.org/10.1088/1361-6579/aae9fdDOI Listing
October 2018
1.808 Impact Factor

Electronic Algorithm Is Superior to Hospital Discharge Codes for Diagnoses of Hypertensive Disorders of Pregnancy in Historical Cohorts.

Mayo Clin Proc 2018 Dec;93(12):1707-1719

Division of Nephrology and Hypertension, University of Belgrade, Belgrade, Serbia; Department of Obstetrics and Gynecology, Mayo Clinic College of Medicine and Science, Mayo Clinic, Rochester, MN. Electronic address:

Objectives: To develop and validate criteria for the retrospective diagnoses of hypertensive disorders of pregnancy that would be amenable to the development of an electronic algorithm, and to compare the accuracy of diagnoses based on both the algorithm and diagnostic codes with the gold standard, of physician-made diagnoses based on a detailed review of medical records using accepted clinical criteria.

Patients And Methods: An algorithm for hypertensive disorders of pregnancy was developed by first defining a set of criteria for retrospective diagnoses, which included relevant clinical variables and diagnosis of hypertension that required blood pressure elevations in greater than 50% of readings ("the 50% rule"). The algorithm was validated using the Rochester Epidemiology Project (Rochester, Minnesota). Read More

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http://dx.doi.org/10.1016/j.mayocp.2018.08.031DOI Listing
December 2018

Nigral iron deposition in common tremor disorders.

Mov Disord 2018 Dec 10. Epub 2018 Dec 10.

Department of Neurology, Medical University of Graz, Graz, Austria.

Objective: We investigated R2* relaxation rates as a marker of iron content in the substantia nigra in patients with common tremor disorders and explored their diagnostic properties.

Methods: Mean nigral R2* rates were measured in 40 patients with tremor-dominant Parkinson's disease (PD), 15 with tremor in dystonia, 25 with essential tremor, and 25 healthy controls.

Results: Tremor-dominant PD patients had significantly higher nigral R2* values (34. Read More

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http://dx.doi.org/10.1002/mds.27549DOI Listing
December 2018

Hypermutagenesis in untreated adult gliomas due to inherited mismatch mutations.

Int J Cancer 2018 Dec 11. Epub 2018 Dec 11.

Institute for Refractory Cancer Research.

Hypermutagenesis refers to marked increase in the number of mutations due to continuous mutagenic process. Hypermutated tumors, have being found in several tumor types, are associated with inherited or acquired alterations in DNA repair pathways. Hypermutation has been observed in a subset of adult glioma patients as a direct result of temozolomide(TMZ)-induced mutagenesis. Read More

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http://dx.doi.org/10.1002/ijc.32054DOI Listing
December 2018

Age-associated hippocampal volume changes in childhood arterial ischemic stroke.

Childs Nerv Syst 2018 Dec 8. Epub 2018 Dec 8.

Department of Radiology, Children's Hospital Colorado, University of Colorado Denver, Anschutz Medical Campus, Aurora, CO, USA.

Purpose: Recent evidence suggests that recovery from secondary neurodegeneration following arterial ischemic stroke (AIS) may be related to age at injury and site of occlusion. We conducted a study of hippocampal volume (HCV) in a cohort of pediatric patients with middle cerebral artery (MCA) territory AIS to determine whether HCV would be preserved in younger children as compared to older children.

Methods: This single-center, HIPAA-compliant retrospective study was approved by the institutional review board. Read More

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http://link.springer.com/10.1007/s00381-018-4021-5
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http://dx.doi.org/10.1007/s00381-018-4021-5DOI Listing
December 2018
1 Read

Association Between Titin Loss-of-Function Variants and Early-Onset Atrial Fibrillation.

JAMA 2018 12;320(22):2354-2364

Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, Massachusetts.

Importance: Atrial fibrillation (AF) is the most common arrhythmia affecting 1% of the population. Young individuals with AF have a strong genetic association with the disease, but the mechanisms remain incompletely understood.

Objective: To perform large-scale whole-genome sequencing to identify genetic variants related to AF. Read More

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http://dx.doi.org/10.1001/jama.2018.18179DOI Listing
December 2018

Development and validation of a score to detect paroxysmal atrial fibrillation after stroke.

Neurology 2018 Dec 7. Epub 2018 Dec 7.

From the Department of Neurology (T.U., K.G.), and Institute of Medical Biostatistics, Epidemiology and Informatics (G.T., A.J.-E.), University Medical Center of the Johannes Gutenberg University Mainz; Department of Cardiology and Pneumology (M.W.-K.), University of Göttingen; Clinic and Policlinic for Cardiology (R.W.), University Hospital Leipzig, Germany; Department of Neurology (M.G.), Kreisklinikum Siegen; Darmstadt University of Applied Sciences (A.J.-E.); Department of Neurology (M.J.), Hainich Klinikum, Mühlhausen, Germany; Institute of Cardiovascular Sciences (P.K.), University of Birmingham; and Department of Cardiology (P.K.), SWBH and UHB NHS Trusts, Birmingham, UK.

Objective: Prolonged monitoring times (72 hours) are recommended to detect paroxysmal atrial fibrillation (pAF) after ischemic stroke but this is not yet clinical practice; therefore, an individual patient selection for prolonged ECG monitoring might increase the diagnostic yield of pAF in a resource-saving manner.

Methods: We used individual patient data from 3 prospective studies (n = 1,556) performing prolonged Holter-ECG monitoring (at least 72 hours) and centralized data evaluation after TIA or stroke in patients with sinus rhythm. Based on the TRIPOD (Transparent Reporting of a Multivariable Prediction Model for Individual Prognosis or Diagnosis) guideline, a clinical score was developed on one cohort, internally validated by bootstrapping, and externally validated on 2 other studies. Read More

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http://dx.doi.org/10.1212/WNL.0000000000006727DOI Listing
December 2018

A Comparative Single-Blind Randomized Controlled Trial With Language Training in People With Mild Cognitive Impairment.

Am J Alzheimers Dis Other Demen 2018 Dec 5:1533317518813554. Epub 2018 Dec 5.

1 Greek Alzheimer Association, Thessaloniki, Greece.

Background:: Although cognitive training is effective for people with mild cognitive impairment (MCI), it is not clear which format is more effective.

Objective:: To compare the effectiveness of the same language programs when carried out via computer, paper/pencil and orally in people with MCI.

Methods:: Seventy-one participants with MCI were randomly classified in 3 experimental and 2 control groups. Read More

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http://dx.doi.org/10.1177/1533317518813554DOI Listing
December 2018
3 Reads

The effect of CYP4F2, VKORC1 and CYP2C9 in influencing coumarin dose. A single patient data meta-analysis in more than 15,000 individuals.

Clin Pharmacol Ther 2018 Dec 2. Epub 2018 Dec 2.

General Medicine and Hypertension Unit, Department of Medicine, University of Verona, Italy.

The CYP4F2 gene is known to influence mean coumarin dose. The aim of the present study was to undertake a meta-analysis at individual patients' level to capture the possible effect of ethnicity, gene-gene interaction or other drugs on the association and to verify if inclusion of CYP4F2*3 variant into dosing algorithms improves the prediction of mean coumarin dose. We asked the authors of our previous meta-analysis (30 articles) and of 38 new articles retrieved by a systematic review to send us individual patients' data. Read More

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http://doi.wiley.com/10.1002/cpt.1323
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http://dx.doi.org/10.1002/cpt.1323DOI Listing
December 2018
4 Reads
7.903 Impact Factor

Application of diffusion tensor imaging in brain lesions: A comparative study of neoplastic and non-neoplastic brain lesions.

Neurol India 2018 Nov-Dec;66(6):1667-1671

Department of Biostatistics and Health Informatics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.

Purpose: To evaluate the role of diffusion tensor imaging (DTI) in the differentiation of neoplastic and non-neoplastic brain lesions, on the basis of DTI parameters, fractional anisotropy (FA) and mean diffusivity (MD) from the lesion (L) and the perilesional edema (PE).

Material And Methods: Patients with newly diagnosed 25 neoplastic [10 high grade gliomas (HGG), 11 metastases, 4 low grade glioma (LGG)] and 25 non-neoplastic [13 tuberculomas and 12 neurocysticercosis (NCC)] brain lesions underwent an MRI, including the DTI sequences. Fractional anisotropy from the lesion (FAL) and mean diffusivity from the lesion (MDL), as well as fractional anisotropy from the perilesional edema (FAPE), and mean diffusivity from the perilesional edema (MDPE) were calculated and quantified using region of interest (ROI) based assessment on DTI derived FA and MD parametric maps. Read More

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http://dx.doi.org/10.4103/0028-3886.246270DOI Listing
December 2018
1 Read
1.084 Impact Factor

The Volume of Ischemic Brain Predicts Poor Outcome in Patients with Surgically Treated Malignant Stroke.

World Neurosurg 2018 Nov 29. Epub 2018 Nov 29.

Department of Neurosurgery, Medical University of Innsbruck, Innsbruck, Austria.

Background: Malignant middle cerebral artery (MCA) stroke represents a life-threatening condition. The outcomes of surgical treatments have shown strong evidence in favor of decompressive hemicraniectomy. A significant subpopulation of patients, however, still experience very poor outcomes. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S18788750183275
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http://dx.doi.org/10.1016/j.wneu.2018.11.197DOI Listing
November 2018
1 Read

Cerebrospinal fluid biomarkers of neurofibrillary tangles and synaptic dysfunction are associated with longitudinal decline in white matter connectivity: A multi-resolution graph analysis.

Neuroimage Clin 2018 Oct 23. Epub 2018 Oct 23.

Department of Biostatistics and Medical Informatics, University of Wisconsin - Madison, Madison, WI, USA; Department of Computer Science, University of Wisconsin - Madison, Madison, WI, USA.

In addition to the development of beta amyloid plaques and neurofibrillary tangles, Alzheimer's disease (AD) involves the loss of connecting structures including degeneration of myelinated axons and synaptic connections. However, the extent to which white matter tracts change longitudinally, particularly in the asymptomatic, preclinical stage of AD, remains poorly characterized. In this study we used a novel graph wavelet algorithm to determine the extent to which microstructural brain changes evolve in concert with the development of AD neuropathology as observed using CSF biomarkers. Read More

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http://dx.doi.org/10.1016/j.nicl.2018.10.024DOI Listing
October 2018
1 Read

GWAS and colocalization analyses implicate carotid intima-media thickness and carotid plaque loci in cardiovascular outcomes.

Authors:
Nora Franceschini Claudia Giambartolomei Paul S de Vries Chris Finan Joshua C Bis Rachael P Huntley Ruth C Lovering Salman M Tajuddin Thomas W Winkler Misa Graff Maryam Kavousi Caroline Dale Albert V Smith Edith Hofer Elisabeth M van Leeuwen Ilja M Nolte Lingyi Lu Markus Scholz Muralidharan Sargurupremraj Niina Pitkänen Oscar Franzén Peter K Joshi Raymond Noordam Riccardo E Marioni Shih-Jen Hwang Solomon K Musani Ulf Schminke Walter Palmas Aaron Isaacs Adolfo Correa Alan B Zonderman Albert Hofman Alexander Teumer Amanda J Cox André G Uitterlinden Andrew Wong Andries J Smit Anne B Newman Annie Britton Arno Ruusalepp Bengt Sennblad Bo Hedblad Bogdan Pasaniuc Brenda W Penninx Carl D Langefeld Christina L Wassel Christophe Tzourio Cristiano Fava Damiano Baldassarre Daniel H O'Leary Daniel Teupser Diana Kuh Elena Tremoli Elmo Mannarino Enzo Grossi Eric Boerwinkle Eric E Schadt Erik Ingelsson Fabrizio Veglia Fernando Rivadeneira Frank Beutner Ganesh Chauhan Gerardo Heiss Harold Snieder Harry Campbell Henry Völzke Hugh S Markus Ian J Deary J Wouter Jukema Jacqueline de Graaf Jacqueline Price Janne Pott Jemma C Hopewell Jingjing Liang Joachim Thiery Jorgen Engmann Karl Gertow Kenneth Rice Kent D Taylor Klodian Dhana Lambertus A L M Kiemeney Lars Lind Laura M Raffield Lenore J Launer Lesca M Holdt Marcus Dörr Martin Dichgans Matthew Traylor Matthias Sitzer Meena Kumari Mika Kivimaki Mike A Nalls Olle Melander Olli Raitakari Oscar H Franco Oscar L Rueda-Ochoa Panos Roussos Peter H Whincup Philippe Amouyel Philippe Giral Pramod Anugu Quenna Wong Rainer Malik Rainer Rauramaa Ralph Burkhardt Rebecca Hardy Reinhold Schmidt Renée de Mutsert Richard W Morris Rona J Strawbridge S Goya Wannamethee Sara Hägg Sonia Shah Stela McLachlan Stella Trompet Sudha Seshadri Sudhir Kurl Susan R Heckbert Susan Ring Tamara B Harris Terho Lehtimäki Tessel E Galesloot Tina Shah Ulf de Faire Vincent Plagnol Wayne D Rosamond Wendy Post Xiaofeng Zhu Xiaoling Zhang Xiuqing Guo Yasaman Saba Abbas Dehghan Adrie Seldenrijk Alanna C Morrison Anders Hamsten Bruce M Psaty Cornelia M van Duijn Deborah A Lawlor Dennis O Mook-Kanamori Donald W Bowden Helena Schmidt James F Wilson James G Wilson Jerome I Rotter Joanna M Wardlaw John Deanfield Julian Halcox Leo-Pekka Lyytikäinen Markus Loeffler Michele K Evans Stéphanie Debette Steve E Humphries Uwe Völker Vilmundur Gudnason Aroon D Hingorani Johan L M Björkegren Juan P Casas Christopher J O'Donnell

Nat Commun 2018 12 3;9(1):5141. Epub 2018 Dec 3.

Intramural Administration Management Branch, National Heart, Lung, and Blood Institute, NIH, Bethesda, MD, 20892, USA.

Carotid artery intima media thickness (cIMT) and carotid plaque are measures of subclinical atherosclerosis associated with ischemic stroke and coronary heart disease (CHD). Here, we undertake meta-analyses of genome-wide association studies (GWAS) in 71,128 individuals for cIMT, and 48,434 individuals for carotid plaque traits. We identify eight novel susceptibility loci for cIMT, one independent association at the previously-identified PINX1 locus, and one novel locus for carotid plaque. Read More

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http://dx.doi.org/10.1038/s41467-018-07340-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6277418PMC
December 2018
4 Reads
10.742 Impact Factor

Genomic kinship construction to enhance genetic analyses in the human connectome project data.

Hum Brain Mapp 2018 Nov 29. Epub 2018 Nov 29.

Big Data Science Institute, Department of Statistics, University of Oxford, Oxford, United Kingdom.

Imaging genetic analyses quantify genetic control over quantitative measurements of brain structure and function using coefficients of relationship (CR) that code the degree of shared genetics between subjects. CR can be inferred through self-reported relatedness or calculated empirically using genome-wide SNP scans. We hypothesized that empirical CR provides a more accurate assessment of shared genetics than self-reported relatedness. Read More

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http://doi.wiley.com/10.1002/hbm.24479
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http://dx.doi.org/10.1002/hbm.24479DOI Listing
November 2018
3 Reads

Risk knowledge of people with relapsing-remitting multiple sclerosis - Results of an international survey.

PLoS One 2018 29;13(11):e0208004. Epub 2018 Nov 29.

Institut für Neuroimmunologie und Multiple Sklerose, Universitätsklinikum Hamburg-Eppendorf, Hamburg, Germany.

Background: Adequate disease and treatment-related risk knowledge of people with Multiple Sclerosis (pwMS) is a prerequisite for informed choices in medical encounters. Previous work showed that MS risk knowledge is low among pwMS and role preferences are different in Italy and Germany.

Objective: We investigated the level of risk knowledge and role preferences in 8 countries and assessed putative variables associated with risk knowledge. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0208004PLOS
November 2018

Prevalence and short-term changes of cognitive dysfunction in young ischemic stroke patients.

Eur J Neurol 2018 Nov 29. Epub 2018 Nov 29.

Department of Neurology, Medical University of Graz, Graz, Austria.

Background: Information on the prevalence and course of post-stroke cognitive impairment in young stroke patients is limited. We aimed to assess a consecutive sample of acute young ischemic stroke patients (18 to 55 years) for the presence and development of neuropsychological deficits.

Methods: Patients prospectively underwent a comprehensive clinical and cognitive assessment, examining general cognitive function, processing speed, attention, flexibility/executive function and word fluency within the first three weeks after hospital admission (median assessment at day six) and at a three months follow-up (FU). Read More

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http://doi.wiley.com/10.1111/ene.13879
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http://dx.doi.org/10.1111/ene.13879DOI Listing
November 2018
10 Reads

Brain imaging of locomotion in neurological conditions.

Neurophysiol Clin 2018 Dec 25;48(6):337-359. Epub 2018 Oct 25.

Department of Radiology and Medical Informatics, University of Geneva, Geneva, Switzerland; Institute of Bioengineering, Center for Neuroprosthetics, Ecole Polytechnique Fédérale de Lausanne (EPFL), Lausanne, Switzerland.

Impaired locomotion is a frequent and major source of disability in patients with neurological conditions. Different neuroimaging methods have been used to understand the brain substrates of locomotion in various neurological diseases (mainly in Parkinson's disease) during actual walking, and while resting (using mental imagery of gait, or brain-behavior correlation analyses). These studies, using structural (i. Read More

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http://dx.doi.org/10.1016/j.neucli.2018.10.004DOI Listing
December 2018
1 Read

Epidemiology of status epilepticus in adults: A population-based study on incidence, causes, and outcomes.

Epilepsia 2018 Nov 26. Epub 2018 Nov 26.

Department of Public Health, Health Services Research and Health Technology Assessment, UMIT - University for Health Sciences, Medical Informatics and Technology, Hall in Tirol, Austria.

Objective: In 2015, the International League Against Epilepsy (ILAE) proposed a new definition of status epilepticus (SE): 5 minutes of ongoing seizure activity to diagnose convulsive SE (CSE, ie, bilateral tonic-clonic SE) and 10 minutes for focal SE and absence SE, rather than the earlier criterion of 30 minutes. Based on semiology, several types of SE with prominent motor phenomena at any time (including CSE) were distinguished from those without (ie, nonconvulsive SE, NCSE). We present the first population-based incidence study applying the new 2015 ILAE definition and classification of SE and report the impact of the evolution of semiology and level of consciousness (LOC) on outcome. Read More

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http://dx.doi.org/10.1111/epi.14607DOI Listing
November 2018

Equalization of four cardiovascular risk algorithms after systematic recalibration: individual-participant meta-analysis of 86 prospective studies.

Authors:
Lisa Pennells Stephen Kaptoge Angela Wood Mike Sweeting Xiaohui Zhao Ian White Stephen Burgess Peter Willeit Thomas Bolton Karel G M Moons Yvonne T van der Schouw Randi Selmer Kay-Tee Khaw Vilmundur Gudnason Gerd Assmann Philippe Amouyel Veikko Salomaa Mika Kivimaki Børge G Nordestgaard Michael J Blaha Lewis H Kuller Hermann Brenner Richard F Gillum Christa Meisinger Ian Ford Matthew W Knuiman Annika Rosengren Debbie A Lawlor Henry Völzke Cyrus Cooper Alejandro Marín Ibañez Edoardo Casiglia Jussi Kauhanen Jackie A Cooper Beatriz Rodriguez Johan Sundström Elizabeth Barrett-Connor Rachel Dankner Paul J Nietert Karina W Davidson Robert B Wallace Dan G Blazer Cecilia Björkelund Chiara Donfrancesco Harlan M Krumholz Aulikki Nissinen Barry R Davis Sean Coady Peter H Whincup Torben Jørgensen Pierre Ducimetiere Maurizio Trevisan Gunnar Engström Carlos J Crespo Tom W Meade Marjolein Visser Daan Kromhout Stefan Kiechl Makoto Daimon Jackie F Price Agustin Gómez de la Cámara J Wouter Jukema Benoît Lamarche Altan Onat Leon A Simons Maryam Kavousi Yoav Ben-Shlomo John Gallacher Jacqueline M Dekker Hisatomi Arima Nawar Shara Robert W Tipping Ronan Roussel Eric J Brunner Wolfgang Koenig Masaru Sakurai Jelena Pavlovic Ron T Gansevoort Dorothea Nagel Uri Goldbourt Elizabeth L M Barr Luigi Palmieri Inger Njølstad Shinichi Sato W M Monique Verschuren Cherian V Varghese Ian Graham Oyere Onuma Philip Greenland Mark Woodward Majid Ezzati Bruce M Psaty Naveed Sattar Rod Jackson Paul M Ridker Nancy R Cook Ralph B D'Agostino Simon G Thompson John Danesh Emanuele Di Angelantonio

Eur Heart J 2018 Nov 22. Epub 2018 Nov 22.

Department of Public Health and Primary Care, University of Cambridge, 2 Worts' Causeway, Cambridge, UK.

Aims: There is debate about the optimum algorithm for cardiovascular disease (CVD) risk estimation. We conducted head-to-head comparisons of four algorithms recommended by primary prevention guidelines, before and after 'recalibration', a method that adapts risk algorithms to take account of differences in the risk characteristics of the populations being studied.

Methods And Results: Using individual-participant data on 360 737 participants without CVD at baseline in 86 prospective studies from 22 countries, we compared the Framingham risk score (FRS), Systematic COronary Risk Evaluation (SCORE), pooled cohort equations (PCE), and Reynolds risk score (RRS). 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/eurheartj/ehy653DOI Listing
November 2018
3 Reads

Spastic paraplegia due to SPAST mutations is modified by the underlying mutation and sex.

Brain 2018 Dec;141(12):3331-3342

Institut du Cerveau et de la Moelle épinière (ICM), INSERM, CNRS, Assistance Publique-Hôpitaux de Paris (AP-HP), Sorbonne Université, Pitié-Salpêtrière University Hospital, Paris, France.

Hereditary spastic paraplegias (HSPs) are rare neurological disorders caused by progressive distal degeneration of the corticospinal tracts. Among the 79 loci and 65 spastic paraplegia genes (SPGs) involved in HSPs, mutations in SPAST, which encodes spastin, responsible for SPG4, are the most frequent cause of both familial and sporadic HSP. SPG4 is characterized by a clinically pure phenotype associated with restricted involvement of the corticospinal tracts and posterior columns of the spinal cord. Read More

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https://academic.oup.com/brain/advance-article/doi/10.1093/b
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http://dx.doi.org/10.1093/brain/awy285DOI Listing
December 2018
12 Reads

Alterations in Schizophrenia-Associated Genes Can Lead to Increased Power in Delta Oscillations.

Cereb Cortex 2018 Nov 22. Epub 2018 Nov 22.

Department of Physics, University of Oslo, Oslo, Norway.

Genome-wide association studies have implicated many ion channels in schizophrenia pathophysiology. Although the functions of these channels are relatively well characterized by single-cell studies, the contributions of common variation in these channels to neurophysiological biomarkers and symptoms of schizophrenia remain elusive. Here, using computational modeling, we show that a common biomarker of schizophrenia, namely, an increase in delta-oscillation power, may be a direct consequence of altered expression or kinetics of voltage-gated ion channels or calcium transporters. Read More

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https://academic.oup.com/cercor/advance-article/doi/10.1093/
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http://dx.doi.org/10.1093/cercor/bhy291DOI Listing
November 2018
4 Reads

Learning relevance models for patient cohort retrieval.

JAMIA Open 2018 Oct 28;1(2):265-275. Epub 2018 Sep 28.

Department of Computer Science, Human Language Technology Research Institute, University of Texas at Dallas, Richardson, Texas, USA.

Objective: We explored how judgements provided by physicians can be used to learn relevance models that enhance the quality of patient cohorts retrieved from Electronic Health Records (EHRs) collections.

Methods: A very large number of features were extracted from patient cohort descriptions as well as EHR collections. The features were used to investigate retrieving (1) neurology-specific patient cohorts from the de-identified Temple University Hospital electroencephalography (EEG) Corpus as well as (2) the more general cohorts evaluated in the TREC Medical Records Track (TRECMed) from the de-identified hospital records provided by the University of Pittsburgh Medical Center. Read More

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https://academic.oup.com/jamiaopen/article/1/2/265/5110415
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http://dx.doi.org/10.1093/jamiaopen/ooy010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6241510PMC
October 2018
2 Reads

Red blood cell transfusion in acute brain injury subtypes: An observational cohort study.

J Crit Care 2018 Nov 11;50:44-49. Epub 2018 Nov 11.

Division of Critical Care Medicine, Department of Anesthesiology and Perioperative Medicine, Mayo Clinic, Rochester, MN, USA. Electronic address:

Purpose: Optimal red blood cell (RBC) transfusion thresholds in acute brain injury (ABI) are poorly defined.

Materials And Methods: We conducted a retrospective cohort study of adult patients with ABI and moderate anemia (Hb 7-10 g/dL) in a neurological intensive care unit (ICU) at an academic medical center between 2008 and 2015. Transfused and non-transfused patients were matched based on age, ABI subtype, pre-transfusion hemoglobin, and ICU length of stay (LOS) at the time of RBC transfusion. Read More

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http://dx.doi.org/10.1016/j.jcrc.2018.11.006DOI Listing
November 2018
8 Reads

Endovascular stroke treatment's impact on malignant type of edema (ESTIMATE).

J Neurol 2018 Nov 23. Epub 2018 Nov 23.

Department of Neurology, University Hospital Ulm, Oberer Eselsberg 45, 89081, Ulm, Germany.

Background And Purpose: In patients with acute ischemic stroke and large vessel occlusion, the prognosis has improved tremendously since the implementation of endovascular thrombectomy (EVT). The effect of EVT on the incidence of malignant middle cerebral artery infarctions (MMI) has not been studied before.

Methods: ESTIMATE, a multicenter retrospective study, evaluates data of ischemic stroke patients with occlusion in the anterior circulation in the years of 2007-2015 comparing three treatment options (no therapy; IV-TPA; IV-TPA plus EVT or EVT only). Read More

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http://dx.doi.org/10.1007/s00415-018-9127-xDOI Listing
November 2018
3 Reads

Reply to: New Meta- and Mega-analyses of Magnetic Resonance Imaging Findings in Schizophrenia: Do They Really Increase Our Knowledge About the Nature of the Disease Process?

Authors:
Theo G M van Erp Esther Walton Derrek P Hibar Lianne Schmaal Wenhao Jiang David C Glahn Godfrey D Pearlson Nailin Yao Masaki Fukunaga Ryota Hashimoto Naohiro Okada Hidenaga Yamamori Vincent P Clark Bryon A Mueller Sonja M C de Zwarte Roel A Ophoff Neeltje E M van Haren Ole A Andreassen Tiril P Gurholt Oliver Gruber Bernd Kraemer Anja Richter Vince D Calhoun Benedicto Crespo-Facorro Roberto Roiz-Santiañez Diana Tordesillas-Gutiérrez Carmel Loughland Stanley Catts Janice M Fullerton Melissa J Green Frans Henskens Assen Jablensky Bryan J Mowry Christos Pantelis Yann Quidé Ulrich Schall Rodney J Scott Murray J Cairns Marc Seal Paul A Tooney Paul E Rasser Gavin Cooper Cynthia Shannon Weickert Thomas W Weickert Elliot Hong Peter Kochunov Raquel E Gur Ruben C Gur Judith M Ford Fabio Macciardi Daniel H Mathalon Steven G Potkin Adrian Preda Fengmei Fan Stefan Ehrlich Margaret D King Lieuwe De Haan Dick J Veltman Francesca Assogna Nerisa Banaj Pietro de Rossi Mariangela Iorio Fabrizio Piras Gianfranco Spalletta Edith Pomarol-Clotet Sinead Kelly Simone Ciufolini Joaquim Radua Robin Murray Tiago Reis Marques Andrew Simmons Stefan Borgwardt Fabienne Schönborn-Harrisberger Anita Riecher-Rössler Renata Smieskova Kathryn I Alpert Alessandro Bertolino Aurora Bonvino Annabella Di Giorgio Emma Neilson Andrew R Mayer Je-Yeon Yun Dara M Cannon Irina Lebedeva Alexander S Tomyshev Tolibjohn Akhadov Vasily Kaleda Helena Fatouros-Bergman Lena Flyckt Pedro G P Rosa Mauricio H Serpa Marcus V Zanetti Cyril Hoschl Antonin Skoch Filip Spaniel David Tomecek Andrew M McIntosh Heather C Whalley Christian Knöchel Viola Oertel-Knöchel Fleur M Howells Dan J Stein Henk S Temmingh Anne Uhlmann Carlos Lopez-Jaramillo Danai Dima Joshua I Faskowitz Boris A Gutman Neda Jahanshad Paul M Thompson Jessica A Turner

Biol Psychiatry 2018 Nov 20. Epub 2018 Nov 20.

Imaging Genetics and Neuroinformatics Laboratory, Department of Psychology, Georgia State University, Atlanta, Georgia; Mind Research Network, Albuquerque, New Mexico.

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http://dx.doi.org/10.1016/j.biopsych.2018.10.003DOI Listing
November 2018
16 Reads
10.255 Impact Factor

Development of a novel convenient Alzheimer's disease assessment scale, the ABC Dementia Scale, using item response theory.

Geriatr Gerontol Int 2018 Nov 22. Epub 2018 Nov 22.

Department of Neuropsychiatry, Faculty of Medicine, Kagawa University, Kagawa, Japan.

Aim: The present study aimed to assess the interrater reliability and construct the validity of a novel, convenient informant-based Alzheimer's disease assessment scale to prepare its final version.

Methods: For the assessment, site investigators, co-medicals and, if available, medical staff other than doctors or co-medicals interviewed study informants to assess individuals using this scale. We then analyzed the interrater reliability and construct validity using factor analysis and item response characteristics. Read More

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http://dx.doi.org/10.1111/ggi.13552DOI Listing
November 2018
1 Read

Olfactory function and olfactory bulb volume in Wilson's disease.

Eur Arch Otorhinolaryngol 2018 Nov 22. Epub 2018 Nov 22.

Department of Otorhinolaryngology and Head and Neck Surgery, Bezmialem Vakif University, Istanbul, Turkey.

Purpose: To evaluate the olfactory function and the olfactory bulb (OB) volume changes in Wilson's Disease (WD) patients.

Methods: A prospective, controlled, single-blinded study was planned. 12 patients with WD (Group 1) and 12 healthy subjects (Group 2) were included in the study. Read More

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http://dx.doi.org/10.1007/s00405-018-5216-9DOI Listing
November 2018
6 Reads

Outcomes of adjunctive steroid therapy in adult patients with bacterial meningitis in Taiwan: A nationwide population-based epidemiologic study.

J Clin Neurosci 2018 Nov 19. Epub 2018 Nov 19.

Department of Neurology, Chang Gung Memorial Hospital-Kaohsiung Medical Center, Chang Gung University College of Medicine, Kaohsiung, Taiwan; Department of Biological Science, National Sun Yat-Sen University, Kaohsiung, Taiwan; Department of Center for Shockwave Medicine and Tissue Engineering, Chang Gung Memorial Hospital-Kaohsiung Medical Center, Chang Gung University College of Medicine, Kaohsiung, Taiwan; Department of Neurology, Xiamen Chang Gung Memorial Hospital, Xiamen, China. Electronic address:

Background: Although corticosteroids are an effective anti-inflammatory adjuvant therapy, the role of adjunctive steroid therapy in treating adult bacterial meningitis in Taiwan remains controversial.

Methods: Cases of acute bacterial meningitis were identified from the annual hospitalization discharge claims of the National Health Insurance Research Database using International Classification of Diseases, Ninth Revision codes from January 2000 to December 2013. Patients were classified into two groups: (1) steroid group (adjunctive steroids and empirical antibiotics) and (2) placebo group (empirical antibiotics only). Read More

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http://dx.doi.org/10.1016/j.jocn.2018.10.146DOI Listing
November 2018
2 Reads

Ginger (Zingiber officinale): An alternative for the prevention of postoperative nausea and vomiting. A meta-analysis.

Phytomedicine 2018 Nov 5;50:8-18. Epub 2018 Sep 5.

Department of Pharmacognosy, Faculty of Pharmacy, University of Szeged, Szeged 6720, Hungary; Interdisciplinary Centre of Natural Products, University of Szeged, Szeged 6720 Hungary. Electronic address:

Background: Postoperative nausea and vomiting (PONV) is a distressing outcome related to surgeries. Traditionally, ginger has been used in the treatment of nausea and vomiting for thousands of years. Recently, several randomized, placebo-controlled clinical trials (RCTs) have been conducted to evaluate the efficacy of ginger in PONV. Read More

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http://dx.doi.org/10.1016/j.phymed.2018.09.007DOI Listing
November 2018
1 Read

Month-of-birth-effect in multiple sclerosis in Austria.

Mult Scler 2018 Nov 22:1352458518810924. Epub 2018 Nov 22.

Karl Landsteiner Institute for Neuroimmunological and Neurodegenerative Disorders, Sozialmedizinisches Zentrum Ost - Donauspital, Vienna, Austria/Department of Neurology, Sozialmedizinisches Zentrum Ost - Donauspital, Vienna, Austria.

Background:: The month-of-birth-effect (MoBE) describes the finding that multiple sclerosis (MS) patients seem to have been born significantly more frequently in spring, with a rise in May, and significantly less often in autumn and winter with the fewest births in November.

Objectives:: To analyse if the MoBE can also be found in the Austrian MS population, and if so, whether the pattern is similar to the reported pattern in Canada, United Kingdom, and some Scandinavian countries.

Methods:: The data of 7886 MS patients in Austria were compared to all live births in Austria from 1940 to 2010, that is, 7. Read More

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http://dx.doi.org/10.1177/1352458518810924DOI Listing
November 2018
6 Reads

Variation in management of spinal gliobastoma multiforme: results from a national cancer registry.

J Neurooncol 2018 Nov 20. Epub 2018 Nov 20.

Mayo Clinic Neuro-Informatics Laboratory, Mayo Clinic College of Medicine and Science, Rochester, MN, 55902, USA.

Purpose: Primary glioblastoma of the spinal cord (spinal GBM) is a rare central nervous system tumor, relative to its cranial counterpart (cranial GBM). Our current knowledge of spinal GBM epidemiology, tumor characteristics and treatment are insufficient and mostly based on single-institution case series.

Methods: All patients diagnosed with grade-4 GBM from 2004 to 2014 were queried from the National Cancer Database. Read More

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http://dx.doi.org/10.1007/s11060-018-03054-2DOI Listing
November 2018
3 Reads

Cerebral Venous Drainage in Patients With Space-Occupying Middle Cerebral Artery Infarction: Effects on Functional Outcome After Hemicraniectomy.

Front Neurol 2018 17;9:876. Epub 2018 Oct 17.

Department of Neurology, University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.

Cerebral venous drainage might influence brain edema characteristics and functional outcome of patients with severe ischemic stroke. The purpose of the study was to evaluate whether hypoplasia of transverse sinuses or the internal jugular veins is associated with poor functional outcome in patients with space-occupying middle cerebral artery (MCA) infarction who underwent decompressive surgery. We performed a retrospective analysis of patients with space-occupying MCA infarction treated with decompressive surgery at our university hospital. Read More

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http://dx.doi.org/10.3389/fneur.2018.00876DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6232900PMC
October 2018

Intracranial hemorrhage with direct oral anticoagulants in patients with brain tumors.

J Thromb Haemost 2018 Nov 19. Epub 2018 Nov 19.

Division of Hemostasis and Thrombosis, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, MA, USA.

Essentials Intracranial hemorrhage (ICH) is common in patients with brain tumors. We compared rates of ICH with DOACs and low molecular weight heparin. DOACs were associated with a lower incidence of ICH in primary brain tumors. Read More

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http://doi.wiley.com/10.1111/jth.14336
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http://dx.doi.org/10.1111/jth.14336DOI Listing
November 2018
11 Reads

A comprehensive screening of copy number variability in dementia with Lewy bodies.

Neurobiol Aging 2018 Oct 24. Epub 2018 Oct 24.

Department of Neurodegenerative Disease, UCL Institute of Neurology, London, UK; UK Dementia Research Institute (UK DRI) at UCL, London, UK; Department of Medical Sciences and Institute of Biomedicine, iBiMED, University of Aveiro, Aveiro, Portugal. Electronic address:

The role of genetic variability in dementia with Lewy bodies (DLB) is now indisputable; however, data regarding copy number variation (CNV) in this disease has been lacking. Here, we used whole-genome genotyping of 1454 DLB cases and 1525 controls to assess copy number variability. We used 2 algorithms to confidently detect CNVs, performed a case-control association analysis, screened for candidate CNVs previously associated with DLB-related diseases, and performed a candidate gene approach to fully explore the data. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S01974580183038
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http://dx.doi.org/10.1016/j.neurobiolaging.2018.10.019DOI Listing
October 2018
7 Reads
5.013 Impact Factor

Genetic analysis of isoform usage in the human anti-viral response reveals influenza-specific regulation of transcripts under balancing selection.

Genome Res 2018 12 16;28(12):1812-1825. Epub 2018 Nov 16.

Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.

While genetic variants are known to be associated with overall gene abundance in stimulated immune cells, less is known about their effects on alternative isoform usage. By analyzing RNA-seq profiles of monocyte-derived dendritic cells from 243 individuals, we uncovered thousands of unannotated isoforms synthesized in response to influenza infection and type 1 interferon stimulation. We identified more than a thousand quantitative trait loci (QTLs) associated with alternate isoform usage (isoQTLs), many of which are independent of expression QTLs (eQTLs) for the same gene. Read More

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http://genome.cshlp.org/lookup/doi/10.1101/gr.240390.118
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http://dx.doi.org/10.1101/gr.240390.118DOI Listing
December 2018
7 Reads

Declining racial and ethnic representation in clinical academic medicine: A longitudinal study of 16 US medical specialties.

PLoS One 2018 16;13(11):e0207274. Epub 2018 Nov 16.

Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America.

Objective: To evaluate trends in racial, ethnic, and sex representation at US medical schools across 16 specialties: internal medicine, pediatrics, surgery, psychiatry, radiology, anesthesiology, obstetrics and gynecology, neurology, family practice, pathology, emergency medicine, orthopedic surgery, ophthalmology, otolaryngology, physical medicine and rehabilitation, and dermatology. Using a novel, Census-derived statistical measure of diversity, the S-score, we quantified the degree of underrepresentation for racial minority groups and female faculty by rank for assistant, associate, and full professors from 1990-2016.

Methods: This longitudinal study of faculty diversity uses data obtained from the American Association of Medical Colleges (AAMC) Faculty Roster from US allopathic medical schools. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0207274PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6239326PMC
November 2018
5 Reads

Evaluation for the Necessity of Medical Imaging Tests Prescription in Neurology.

Conf Proc IEEE Eng Med Biol Soc 2018 Jul;2018:4021-4024

The evaluation and control algorithms for the necessity of medical prescription testing, comprises useful tool for health professionals. It is beyond doubt that a connection between illness, symptoms, medical tests and prescriptions is essential and thus algorithms facilitating such approaches should be available to health professionals. Such informatics tools require the implementation of smart, interactive tools and not just linear, information storing websites. Read More

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https://ieeexplore.ieee.org/document/8513299/
Publisher Site
http://dx.doi.org/10.1109/EMBC.2018.8513299DOI Listing
July 2018
2 Reads

Homotopic Connectivity in Early Pontine Infarction Predicts Late Motor Recovery.

Front Neurol 2018 31;9:907. Epub 2018 Oct 31.

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

Connectivity-based methods are essential to explore brain reorganization after a stroke and to provide meaningful predictors for late motor recovery. We aim to investigate the homotopic connectivity alterations during a 180-day follow-up of patients with pontine infarction to find an early biomarker for late motor recovery prediction. In our study, resting-state functional MRI was performed in 15 patients (11 males, 4 females, age: 57. Read More

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https://www.frontiersin.org/article/10.3389/fneur.2018.00907
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http://dx.doi.org/10.3389/fneur.2018.00907DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6220368PMC
October 2018
5 Reads

The Neuromodulatory Impact of Subthalamic Nucleus Deep Brain Stimulation on Gait and Postural Instability in Parkinson's Disease Patients: A Prospective Case Controlled Study.

Front Neurol 2018 31;9:906. Epub 2018 Oct 31.

Department of Neurology, Faculty of Health Science, Medical University of Warsaw, Warsaw, Poland.

Subthalamic nucleus deep brain stimulation (STN-DBS) has been an established method in improvement of motor disabilities in Parkinson's disease (PD) patients. It has been also claimed to have an impact on balance and gait disorders in PD patients, but the previous results are conflicting. The aim of this prospective controlled study was to evaluate the impact of STN-DBS on balance disorders in PD patients in comparison with Best-Medical-Therapy (BMT) and Long-term-Post-Operative (POP) group. Read More

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http://dx.doi.org/10.3389/fneur.2018.00906DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6220087PMC
October 2018
9 Reads

Publisher Correction: Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits.

Authors:
Evangelos Evangelou Helen R Warren David Mosen-Ansorena Borbala Mifsud Raha Pazoki He Gao Georgios Ntritsos Niki Dimou Claudia P Cabrera Ibrahim Karaman Fu Liang Ng Marina Evangelou Katarzyna Witkowska Evan Tzanis Jacklyn N Hellwege Ayush Giri Digna R Velez Edwards Yan V Sun Kelly Cho J Michael Gaziano Peter W F Wilson Philip S Tsao Csaba P Kovesdy Tonu Esko Reedik Mägi Lili Milani Peter Almgren Thibaud Boutin Stéphanie Debette Jun Ding Franco Giulianini Elizabeth G Holliday Anne U Jackson Ruifang Li-Gao Wei-Yu Lin Jian'an Luan Massimo Mangino Christopher Oldmeadow Bram Peter Prins Yong Qian Muralidharan Sargurupremraj Nabi Shah Praveen Surendran Sébastien Thériault Niek Verweij Sara M Willems Jing-Hua Zhao Philippe Amouyel John Connell Renée de Mutsert Alex S F Doney Martin Farrall Cristina Menni Andrew D Morris Raymond Noordam Guillaume Paré Neil R Poulter Denis C Shields Alice Stanton Simon Thom Gonçalo Abecasis Najaf Amin Dan E Arking Kristin L Ayers Caterina M Barbieri Chiara Batini Joshua C Bis Tineka Blake Murielle Bochud Michael Boehnke Eric Boerwinkle Dorret I Boomsma Erwin P Bottinger Peter S Braund Marco Brumat Archie Campbell Harry Campbell Aravinda Chakravarti John C Chambers Ganesh Chauhan Marina Ciullo Massimiliano Cocca Francis Collins Heather J Cordell Gail Davies Martin H de Borst Eco J de Geus Ian J Deary Joris Deelen Fabiola Del Greco M Cumhur Yusuf Demirkale Marcus Dörr Georg B Ehret Roberto Elosua Stefan Enroth A Mesut Erzurumluoglu Teresa Ferreira Mattias Frånberg Oscar H Franco Ilaria Gandin Paolo Gasparini Vilmantas Giedraitis Christian Gieger Giorgia Girotto Anuj Goel Alan J Gow Vilmundur Gudnason Xiuqing Guo Ulf Gyllensten Anders Hamsten Tamara B Harris Sarah E Harris Catharina A Hartman Aki S Havulinna Andrew A Hicks Edith Hofer Albert Hofman Jouke-Jan Hottenga Jennifer E Huffman Shih-Jen Hwang Erik Ingelsson Alan James Rick Jansen Marjo-Riitta Jarvelin Roby Joehanes Åsa Johansson Andrew D Johnson Peter K Joshi Pekka Jousilahti J Wouter Jukema Antti Jula Mika Kähönen Sekar Kathiresan Bernard D Keavney Kay-Tee Khaw Paul Knekt Joanne Knight Ivana Kolcic Jaspal S Kooner Seppo Koskinen Kati Kristiansson Zoltan Kutalik Maris Laan Marty Larson Lenore J Launer Benjamin Lehne Terho Lehtimäki David C M Liewald Li Lin Lars Lind Cecilia M Lindgren YongMei Liu Ruth J F Loos Lorna M Lopez Yingchang Lu Leo-Pekka Lyytikäinen Anubha Mahajan Chrysovalanto Mamasoula Jaume Marrugat Jonathan Marten Yuri Milaneschi Anna Morgan Andrew P Morris Alanna C Morrison Peter J Munson Mike A Nalls Priyanka Nandakumar Christopher P Nelson Teemu Niiranen Ilja M Nolte Teresa Nutile Albertine J Oldehinkel Ben A Oostra Paul F O'Reilly Elin Org Sandosh Padmanabhan Walter Palmas Aarno Palotie Alison Pattie Brenda W J H Penninx Markus Perola Annette Peters Ozren Polasek Peter P Pramstaller Quang Tri Nguyen Olli T Raitakari Meixia Ren Rainer Rettig Kenneth Rice Paul M Ridker Janina S Ried Harriëtte Riese Samuli Ripatti Antonietta Robino Lynda M Rose Jerome I Rotter Igor Rudan Daniela Ruggiero Yasaman Saba Cinzia F Sala Veikko Salomaa Nilesh J Samani Antti-Pekka Sarin Reinhold Schmidt Helena Schmidt Nick Shrine David Siscovick Albert V Smith Harold Snieder Siim Sõber Rossella Sorice John M Starr David J Stott David P Strachan Rona J Strawbridge Johan Sundström Morris A Swertz Kent D Taylor Alexander Teumer Martin D Tobin Maciej Tomaszewski Daniela Toniolo Michela Traglia Stella Trompet Jaakko Tuomilehto Christophe Tzourio André G Uitterlinden Ahmad Vaez Peter J van der Most Cornelia M van Duijn Anne-Claire Vergnaud Germaine C Verwoert Veronique Vitart Uwe Völker Peter Vollenweider Dragana Vuckovic Hugh Watkins Sarah H Wild Gonneke Willemsen James F Wilson Alan F Wright Jie Yao Tatijana Zemunik Weihua Zhang John R Attia Adam S Butterworth Daniel I Chasman David Conen Francesco Cucca John Danesh Caroline Hayward Joanna M M Howson Markku Laakso Edward G Lakatta Claudia Langenberg Olle Melander Dennis O Mook-Kanamori Colin N A Palmer Lorenz Risch Robert A Scott Rodney J Scott Peter Sever Tim D Spector Pim van der Harst Nicholas J Wareham Eleftheria Zeggini Daniel Levy Patricia B Munroe Christopher Newton-Cheh Morris J Brown Andres Metspalu Adriana M Hung Christopher J O'Donnell Todd L Edwards Bruce M Psaty Ioanna Tzoulaki Michael R Barnes Louise V Wain Paul Elliott Mark J Caulfield

Nat Genet 2018 Dec;50(12):1755

William Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, UK.

In the version of this article originally published, the name of author Martin H. de Borst was coded incorrectly in the XML. The error has now been corrected in the HTML version of the paper. Read More

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http://www.nature.com/articles/s41588-018-0297-3
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http://dx.doi.org/10.1038/s41588-018-0297-3DOI Listing
December 2018
10 Reads
29.350 Impact Factor

Developing a risk-based composite neurologic outcome for a trial of hydroxyurea in young children with sickle cell disease.

Clin Trials 2018 Nov 14:1740774518807160. Epub 2018 Nov 14.

9 Division of Health Sciences Informatics, Johns Hopkins University School of Medicine, Baltimore, MD, USA.

Background: Studies of interventions to prevent the many neurological complications of sickle cell disease must take into account multiple outcomes of variable severity, with limited sample size. The goals of the studies presented were to use investigator preferences across outcomes to determine an attitude-based weighting of relevant clinical outcomes and to establish a valid composite outcome for a clinical trial.

Methods: In Study 1, investigators were surveyed about their practice regarding hydroxyurea therapy and opinions about outcomes for the "Hydroxyurea to Prevent the Central Nervous System Complications of Sickle Cell Disease Trial" (HU Prevent), and their minimally acceptable relative risk reduction for the two outcome components, motor and neurocognitive deficits. Read More

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http://dx.doi.org/10.1177/1740774518807160DOI Listing
November 2018
2 Reads

A Systematic Assessment of Prevalence, Incidence and Regional Distribution of Multiple Sclerosis in Bavaria From 2006 to 2015.

Front Neurol 2018 30;9:871. Epub 2018 Oct 30.

Department of Neurology, Klinikum Rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany.

Worldwide, incidence and prevalence of multiple sclerosis (MS) have increased over the last decades. We present a systematic epidemiological study with recent prevalence and incidence rates of MS in Bavaria. Incidence and prevalence of MS stratified by gender, age groups and region were analyzed by data records from 2006 to 2015 of more than 10 million people insured by the . Read More

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https://www.frontiersin.org/article/10.3389/fneur.2018.00871
Publisher Site
http://dx.doi.org/10.3389/fneur.2018.00871DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6218432PMC
October 2018
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Association of Clinical Specialty With Symptoms of Burnout and Career Choice Regret Among US Resident Physicians.

JAMA 2018 09;320(11):1114-1130

School of Nursing, Oregon Health & Science University, Portland.

Importance: Burnout among physicians is common and has been associated with medical errors and lapses in professionalism. It is unknown whether rates for symptoms of burnout among resident physicians vary by clinical specialty and if individual factors measured during medical school relate to the risk of burnout and career choice regret during residency.

Objective: To explore factors associated with symptoms of burnout and career choice regret during residency. Read More

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Source
https://jamanetwork.com/journals/jama/fullarticle/2702870
Publisher Site
http://dx.doi.org/10.1001/jama.2018.12615DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6233627PMC
September 2018
3 Reads
35.290 Impact Factor