14,734 results match your criteria Huntington Disease


Creating Cell and Animal Models of Human Disease by Genome Editing Using CRISPR/Cas9.

J Gene Med 2019 Feb 20:e3082. Epub 2019 Feb 20.

Department of Genetics, Shiraz University of Medical Science, Shiraz, Iran.

Aims: Set of unique sequences in bacterial genomes, responsible for protecting bacteria against bacteriophages, have been recently used for genetic manipulation of specific points in the genome. These system comprises of one RNA component and one enzyme component, known as CRISPR and Cas9, respectively. The present review focuses on the applications of the CRISPR/Cas9 technology in the development of cellular and animal models of human disease. Read More

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http://dx.doi.org/10.1002/jgm.3082DOI Listing
February 2019

Long-term direct oral anticoagulation in primary osteonecrosis with elevated plasminogen activation inhibitor.

SAGE Open Med Case Rep 2019 4;7:2050313X19827747. Epub 2019 Feb 4.

Joan C Edwards School of Medicine, Marshall University, Huntington, WV, USA.

Osteonecrosis is a pathological condition that could lead to a debilitating physical disease and impede daily activities. It is generally categorised into aetiology - primary (idiopathic) or secondary. When direct damage to the bone vasculature or direct injury of the bone marrow is related to an identifiable cause such as traumatic injuries, steroid or bisphosphonate use, increased alcohol intake, sickle cell disease, autoimmune diseases, chemotherapy or malignancy, it is categorised as secondary osteonecrosis. Read More

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http://dx.doi.org/10.1177/2050313X19827747DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6366292PMC
February 2019

Neuroprotective effect of solanesol against 3-nitropropionic acid-induced Huntington's disease-like behavioral, biochemical, and cellular alterations: Restoration of coenzyme-Q10-mediated mitochondrial dysfunction.

Indian J Pharmacol 2018 Nov-Dec;50(6):309-319

Department of Pharmaceutical Sciences, PDM University, Bahadurgarh, Haryana, India.

Objective: The aim of the present study was to evaluate the solanesol (SNL)-mediated coenzyme-Q10 restoration to ameliorate 3-nitropropionic (3-NP)-induced behavioral, biochemical, and histological changes which resemble Huntington's disease (HD)-like symptoms in men.

Materials And Methods: Various behavioral and biochemical parameters were carried out to evaluate the activity of SNL on 3-NP-treated rats. To determine the therapeutic significance of SNL on HD, different behavioral tests such as memory task, locomotor activity, grip strength, and beam cross and some biochemical test along with histopathological findings were done. Read More

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http://dx.doi.org/10.4103/ijp.IJP_11_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6364342PMC
February 2019

Systemic bile acids induce insulin resistance in a TGR5-independent manner.

Am J Physiol Endocrinol Metab 2019 Feb 19. Epub 2019 Feb 19.

Department of Molecular Physiology and Biophysics Vanderbilt Univ. School of Medicine Nashville, TN, United States.

Bile acids are involved in the emulsification and absorption of dietary fats as well as acting as signaling molecules. Recently, bile acid signaling through farnesoid X receptor (FXR) and G Protein-Coupled Bile Acid Receptor (TGR5) has been reported to elicit changes in not only bile acid synthesis but also metabolic processes including altering gluconeogenic gene expression and energy expenditure. A role for bile acids in glucose metabolism is also supported by a correlation between changes in the metabolic state of patients (i. Read More

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http://dx.doi.org/10.1152/ajpendo.00362.2018DOI Listing
February 2019

Predictors of withdrawal from renal replacement therapy among patients with acute kidney injury requiring renal replacement therapy.

Clin Exp Nephrol 2019 Feb 16. Epub 2019 Feb 16.

Department of Internal Medicine, Tokyo Metropolitan Bokutoh Hospital, 4-23-15 Kotobashi, Sumida-ku, Tokyo, 130-8575, Japan.

Background: Although recovery of renal function after an episode of acute kidney injury (AKI) is an important clinical measure of morbidity, predictors of withdrawal from renal replacement therapy (RRT) among AKI patients remain unclear.

Methods: In this single-center retrospective cohort study, we examined the clinical records of AKI patients requiring RRT who were hospitalized in the ICU or general wards at our hospital from January 2010 to December 2013. A priori-determined covariates of age, sex, cardiovascular disease, chronic kidney disease (CKD), mean arterial pressure (MAP), sepsis, nephrotoxic agents, and hypoalbuminemia were assessed in Cox hazard models to estimate hazard ratio (HR). Read More

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http://dx.doi.org/10.1007/s10157-019-01711-yDOI Listing
February 2019

Ghrelin-mediated improvements in the metabolic phenotype in the R6/2 mouse model of Huntington's disease.

J Neuroendocrinol 2019 Feb 18:e12699. Epub 2019 Feb 18.

Section for Metabolic Receptology, Novo Nordisk Foundation Center for Basic Metabolic Research, University of Copenhagen, Copenhagen, Denmark.

Huntington's disease (HD) is a heritable neurodegenerative disorder, characterized by metabolic disturbances, along with cognitive and psychiatric impairments. Targeting metabolic HD dysfunction through maintenance of body weight and fat mass and restoration of peripheral energy metabolism can improve the progression of neurological symptoms. In this respect, we focused on the therapeutic potential of the orexigenic peptide hormone ghrelin, which plays an important role in promoting a positive energy balance. Read More

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http://dx.doi.org/10.1111/jne.12699DOI Listing
February 2019

Huntington's Disease Clinical Trials Corner: January 2019.

J Huntingtons Dis 2019 ;8(1):115-125

UCL Huntington's Disease Centre, UCL Queen Square Institute of Neurology, University College London, UK.

In this edition of the Huntington's Disease Clinical Trials Corner we expand on the GENERATION-HD1 and PACE-HD trials, and we list all currently registered and ongoing clinical trials in Huntington's disease. Read More

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http://dx.doi.org/10.3233/JHD-190001DOI Listing
January 2019

Detection of axonal degeneration in a mouse model of Huntington's disease: comparison between diffusion tensor imaging and anomalous diffusion metrics.

MAGMA 2019 Feb 15. Epub 2019 Feb 15.

Department of Bioengineering, University of Illinois at Chicago, 851 S Morgan St, 218 SEO (MC 063), Chicago, IL, 60607, USA.

Objective: The goal of this work is to study the changes in white matter integrity in R6/2, a well-established animal model of Huntington's disease (HD) that are captured by ex vivo diffusion imaging (DTI) using a high field MRI (17.6 T).

Materials And Methods: DTI and continuous time random walk (CTRW) models were used to fit changes in the diffusion-weighted signal intensity in the corpus callosum of controls and in R6/2 mice. Read More

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http://dx.doi.org/10.1007/s10334-019-00742-6DOI Listing
February 2019
1.353 Impact Factor

Characteristics and advantages of adeno-associated virus vector-mediated gene therapy for neurodegenerative diseases.

Neural Regen Res 2019 Jun;14(6):931-938

Department of Hand Surgery, the Second Hospital of Jilin University, Changchun, Jilin Province, China.

Common neurodegenerative diseases of the central nervous system are characterized by progressive damage to the function of neurons, even leading to the permanent loss of function. Gene therapy via gene replacement or gene correction provides the potential for transformative therapies to delay or possibly stop further progression of the neurodegenerative disease in affected patients. Adeno-associated virus has been the vector of choice in recent clinical trials of therapies for neurodegenerative diseases due to its safety and efficiency in mediating gene transfer to the central nervous system. Read More

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http://www.nrronline.org/text.asp?2019/14/6/931/250570
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http://dx.doi.org/10.4103/1673-5374.250570DOI Listing
June 2019
6 Reads

Disaggregating catastrophic health expenditure by disease area: cross-country estimates based on the World Health Surveys.

BMC Med 2019 Feb 13;17(1):36. Epub 2019 Feb 13.

Department of Global Health and Population, Harvard T.H. Chan School of Public Health, 665 Huntington Avenue, Boston, MA, 02115, USA.

Background: Financial risk protection (FRP) is a key objective of national health systems and a core pillar of universal health coverage (UHC). Yet, little is known about the disease-specific distribution of catastrophic health expenditure (CHE) at the national level.

Methods: Using the World Health Surveys (WHS) from 39 countries, we quantified CHE, or household health spending that surpasses 40% of capacity-to-pay by key disease areas. Read More

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http://dx.doi.org/10.1186/s12916-019-1266-0DOI Listing
February 2019

FDG-PET in a Case of Very Late-onset Huntington's Disease.

Mov Disord Clin Pract 2018 Mar-Apr;5(2):227-228. Epub 2018 Mar 23.

Department of Neurology University Hospital, Ludwig Maximilians University Munich Germany.

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http://dx.doi.org/10.1002/mdc3.12601DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6336367PMC
March 2018
2 Reads

The "Stutter-Step": A Peculiar Gait Feature in Advanced Huntington's Disease and Chorea-Acanthocytosis.

Mov Disord Clin Pract 2018 Mar-Apr;5(2):223-224. Epub 2018 Feb 15.

Movement Disorder Division, Neurology Department New York University School of Medicine New York New York USA.

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http://dx.doi.org/10.1002/mdc3.12586DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6336370PMC
February 2018
2 Reads

Olfactory bulb atrophy and caspase activation observed in the BACHD rat models of Huntington disease.

Neurobiol Dis 2019 Feb 6;125:219-231. Epub 2019 Feb 6.

Research Center on Aging, Department of Pharmacology and Physiology, University of Sherbrooke, Sherbrooke, Canada. Electronic address:

Olfactory dysfunction is observed in several neurological disorders, including Huntington disease (HD), and correlates with global cognitive performance, depression and degeneration of olfactory regions in the brain. Despite clear evidence demonstrating olfactory dysfunction in HD patients, only limited details are available in murine models and the underlying mechanisms are unknown. In order to determine if alterations in the olfactory bulb (OB) are observed in HD we assessed OB weight or area from 3 to 12 months of age in the BACHD transgenic lines (TG5 and TG9). Read More

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https://linkinghub.elsevier.com/retrieve/pii/S09699961183023
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http://dx.doi.org/10.1016/j.nbd.2019.02.002DOI Listing
February 2019
1 Read

Discovery and characterisation of an antibody that selectively modulates the inhibitory activity of plasminogen activator inhibitor-1.

Sci Rep 2019 Feb 7;9(1):1605. Epub 2019 Feb 7.

MedImmune Ltd, Cambridge, CB21 6GH, UK.

Plasminogen activator inhibitor-1 (PAI-1) is a serine protease inhibitor (serpin) that regulates fibrinolysis, cell adhesion and cell motility via its interactions with plasminogen activators and vitronectin. PAI-1 has been shown to play a role in a number of diverse pathologies including cardiovascular diseases, obesity and cancer and is therefore an attractive therapeutic target. However the multiple patho-physiological roles of PAI-1, and understanding the relative contributions of these in any one disease setting, make the development of therapeutically relevant molecules challenging. Read More

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http://dx.doi.org/10.1038/s41598-019-38842-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6367345PMC
February 2019

Permethrin exposure from wearing fabric-treated military uniforms in high heat conditions under varying wear-time scenarios.

J Expo Sci Environ Epidemiol 2019 Feb 6. Epub 2019 Feb 6.

Centers for Disease Control and Prevention, National Center for Environmental Health, Division of Laboratory Sciences, 4770 Buford Hwy, Atlanta, GA, USA.

This study examined the effect of high-temperature conditions and uniform wear time durations (expeditionary, 33 h continuous wear; garrison, 3 days, 8 h/day wear) on permethrin exposure, assessed by urinary permethrin biomarkers, from wearing post-tailored, factory-treated military uniforms. Four group study sessions took place over separate 11-day periods, involving 33 male Soldiers. Group 1 (n = 10) and Group 2 (n = 8) participants wore a study-issued permethrin-treated Army uniform under high heat environment (35 °C, 40% relative humidity (rh)) and expeditionary and garrison wear-time conditions, respectively. Read More

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http://dx.doi.org/10.1038/s41370-019-0120-yDOI Listing
February 2019

Enhanced striatopallidal gamma-aminobutyric acid (GABA) receptor transmission in mouse models of huntington's disease.

Mov Disord 2019 Feb 6. Epub 2019 Feb 6.

Department of Physiology, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA.

Background: Huntington's disease (HD) is caused by a CAG repeat expansion in the huntingtin gene. This mutation leads to progressive dysfunction that is largely attributable to dysfunction of the striatum. The earliest signs of striatal pathology in HD are found in indirect pathway gamma-Aminobutyric acid (GABA)-ergic spiny projection neurons that innervate the external segment of the globus pallidus (GPe). Read More

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http://dx.doi.org/10.1002/mds.27622DOI Listing
February 2019
3 Reads

Identification of Altered Developmental Pathways in Human Juvenile HD iPSC With 71Q and 109Q Using Transcriptome Profiling.

Front Cell Neurosci 2018 18;12:528. Epub 2019 Jan 18.

Institute of Bioorganic Chemistry, Polish Academy of Sciences, Poznań, Poland.

In Huntington disease (HD) subtle symptoms in patients may occur years or even decades prior to diagnosis. HD changes at a molecular level may begin as early as in cells that are non-lineage committed such as stem cells or HD patients induced pluripotent stem cells (iPSCs) offering opportunity to enhance the understanding of the HD pathogenesis. In addition, juvenile HD non-linage committed cells were previously not directly investigated in detail by RNA-seq. Read More

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http://dx.doi.org/10.3389/fncel.2018.00528DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6345698PMC
January 2019

The Role of PI3K/Akt and ERK in Neurodegenerative Disorders.

Neurotox Res 2019 Feb 1. Epub 2019 Feb 1.

Department of Biochemistry, Institute of Science, Banaras Hindu University, Varanasi, 221005, India.

Disruption of Akt and Erk-mediated signal transduction significantly contributes in the pathogenesis of various neurodegenerative diseases (NDs), such as Parkinson's disease, Alzheimer's diseases, Huntington's disease, and many others. These regulatory proteins serve as the regulator of cell survival, motility, transcription, metabolism, and progression of the cell cycle. Therefore, targeting Akt and Erk pathway has been proposed as a reasonable approach to suppress ND progression. Read More

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http://dx.doi.org/10.1007/s12640-019-0003-yDOI Listing
February 2019
1 Read

Hydrocephalus in a rat model of Meckel Gruber syndrome with a TMEM67 mutation.

Sci Rep 2019 Jan 31;9(1):1069. Epub 2019 Jan 31.

Department of Biology, Indiana University - Purdue University Indianapolis, Indianapolis, IN, 46202, USA.

Transmembrane protein 67 (TMEM67) is mutated in Meckel Gruber Syndrome type 3 (MKS3) resulting in a pleiotropic phenotype with hydrocephalus and renal cystic disease in both humans and rodent models. The precise pathogenic mechanisms remain undetermined. Herein it is reported for the first time that a point mutation of TMEM67 leads to a gene dose-dependent hydrocephalic phenotype in the Wistar polycystic kidney (Wpk) rat. Read More

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http://www.nature.com/articles/s41598-018-37620-5
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http://dx.doi.org/10.1038/s41598-018-37620-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6355840PMC
January 2019
7 Reads

Intracoronary recombinant tissue plasminogen activator in an infant with hypoplastic left heart syndrome and complete left main coronary artery thrombosis.

Catheter Cardiovasc Interv 2019 Jan 31. Epub 2019 Jan 31.

Congenital Heart Center, Spectrum Health Helen DeVos Children's Hospital, Grand Rapids, Michigan.

An infant with hypoplastic left heart syndrome (HLHS) presented with complete heart block and severe myocardial dysfunction requiring ECMO support due to complete left main coronary artery (LMCA) thrombosis. Current guidelines for managing coronary artery thrombosis in infants with single ventricle physiology are inadequate. We describe successful LMCA and branch recanalization via intra coronary infusion of recombinant tissue plasminogen activator and discuss management of acute coronary thrombosis in children with single ventricle physiology. Read More

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http://doi.wiley.com/10.1002/ccd.28092
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http://dx.doi.org/10.1002/ccd.28092DOI Listing
January 2019
6 Reads

Neurological profiles beyond the sleep disorder in patients with anti-IgLON5 disease.

Curr Opin Neurol 2019 Jan 28. Epub 2019 Jan 28.

Parkinson's Disease and Movement Disorders Unit, Neurology Service, Hospital Clínic de Barcelona Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS) Institut de Neurociències Centro de Investigación Biomedica en Red Enfermedades Neurodegenerativas (CIBERNED).

Purpose Of Review: Anti-IgLON5 disease is a novel entity characterized by a distinctive sleep disorder associated with a variety of neurological symptoms, antibodies against IgLON5, and pathological findings of neuronal tauopathy. The characteristic sleep disorder occurs in most patients, but other neurological symptoms are also important because they can be the presenting and most disabling problem and mimic other conditions. This review focuses on nonsleep neurological symptoms and presentations of anti-IgLON5 disease. Read More

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http://dx.doi.org/10.1097/WCO.0000000000000677DOI Listing
January 2019
1 Read

A global perspective on coal-fired power plants and burden of lung cancer.

Environ Health 2019 01 28;18(1). Epub 2019 Jan 28.

Department of Environmental Health, Harvard T.H. Chan School of Public Health, 665 Huntington Avenue, Building 1, Room 1401, Boston, MA, 02115, USA.

Background: Exposure to ambient particulate matter generated from coal-fired power plants induces long-term health consequences. However, epidemiologic studies have not yet focused on attributing these health burdens specifically to energy consumption, impeding targeted intervention policies. We hypothesize that the generating capacity of coal-fired power plants may be associated with lung cancer incidence at the national level. Read More

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https://ehjournal.biomedcentral.com/articles/10.1186/s12940-
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http://dx.doi.org/10.1186/s12940-019-0448-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6350330PMC
January 2019
4 Reads

Activity Behaviour of Minipigs Transgenic for the Huntington Gene.

J Huntingtons Dis 2019 ;8(1):23-31

George-Huntington-Institute, Technology Park Muenster, Muenster, Germany.

Background: To increase the reliability of translating preclinical findings to humans, large animal models, such as the transgenic (tg) Libechov minipig, were established. As minipigs possess high genetic homology with humans and have similarities in anatomy, physiology and metabolism to humans, they are considered for studying neurodegenerative diseases longitudinally. Recently, sleep abnormalities and changes in circadian rhythm in Huntington's disease (HD) patients were acknowledged to present one of the early symptoms in HD. Read More

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https://www.medra.org/servlet/aliasResolver?alias=iospress&a
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http://dx.doi.org/10.3233/JHD-180325DOI Listing
January 2019
4 Reads

Mitophagy links oxidative stress conditions and neurodegenerative diseases.

Neural Regen Res 2019 May;14(5):749-756

Department of Biomedical Science, Graduate School; Department of Anatomy and Neurobiology, College of Medicine, Kyung Hee University, Seoul, South Korea.

Mitophagy is activated by a number of stimuli, including hypoxia, energy stress, and increased oxidative phosphorylation activity. Mitophagy is associated with oxidative stress conditions and central neurodegenerative diseases. Proper regulation of mitophagy is crucial for maintaining homeostasis; conversely, inadequate removal of mitochondria through mitophagy leads to the generation of oxidative species, including reactive oxygen species and reactive nitrogen species, resulting in various neurodegenerative diseases, such as Alzheimer's disease, Parkinson's disease, Huntington's disease, and amyotrophic lateral sclerosis. Read More

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http://www.nrronline.org/text.asp?2019/14/5/749/249218
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http://dx.doi.org/10.4103/1673-5374.249218DOI Listing
May 2019
6 Reads

Cerebrospinal fluid flow dynamics in Huntington's disease evaluated by phase contrast MRI.

Eur J Neurosci 2019 Jan 28. Epub 2019 Jan 28.

UCL Huntington's Disease Centre, UCL Queen Square Institute of Neurology, University College London, London, UK.

Multiple targeted therapeutics for Huntington's disease are now in clinical trials, including intrathecally delivered compounds. Previous research suggests that CSF dynamics may be altered in Huntington's disease, which could be of paramount relevance to intrathecal drug delivery to the brain. To test this hypothesis, we conducted a prospective cross-sectional study comparing people with early stage Huntington's disease with age- and gender-matched healthy controls. Read More

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http://dx.doi.org/10.1111/ejn.14356DOI Listing
January 2019
4 Reads

Stem cells in animal models of Huntington disease: A systematic review.

Mol Cell Neurosci 2019 Jan 24;95:43-50. Epub 2019 Jan 24.

Neuropsychiatry Program, Department of Psychiatry and Behavioral Sciences, McGovern Medical School, The University of Texas Health Science Center at Houston, Houston, TX, USA.

Huntington's disease (HD) is an autosomal-dominant neurodegenerative disorder encoding a mutant form of the huntingtin protein (HTT). HD is pathologically characterized by loss of neurons in the striatum and cortex, which leads to progressive motor dysfunction, cognitive decline and behavioral symptoms. Stem cell-based therapy has emerged as a feasible therapeutic approach for the treatment of neurodegenerative diseases and may be effective in alleviating and/or halting the pathophysiological mechanisms underlying HD. Read More

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http://dx.doi.org/10.1016/j.mcn.2019.01.006DOI Listing
January 2019
1 Read

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

Emerging differences between Huntington's disease-like 2 and Huntington's disease: A comparison using MRI brain volumetry.

Neuroimage Clin 2019 Jan 7;21:101666. Epub 2019 Jan 7.

Departments of Psychiatry and Neurology, Program in Cellular and Molecular Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.

Huntington's Disease-Like 2 (HDL2), caused by a CTG/CAG expansion in JPH3 on chromosome 16q24, is the most common Huntington's Disease (HD) phenocopy in populations with African ancestry. Qualitatively, brain MRIs of HDL2 patients have been indistinguishable from HD. To determine brain regions most affected in HDL2 a cross-sectional study using MRI brain volumetry was undertaken to compare the brains of nine HDL2, 11 HD and nine age matched control participants. Read More

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http://dx.doi.org/10.1016/j.nicl.2019.101666DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6350216PMC
January 2019

Loeys-Dietz Syndrome Complicated by Right Coronary Artery Pseudoaneurysm.

Case Rep Cardiol 2018 23;2018:8014820. Epub 2018 Dec 23.

MU Internal Medicine Residency Program, Marshall University, 1249 15th Street, Huntington, WV 25701, USA.

Loeys-Dietz syndrome is a rare autosomal dominant connective tissue disorder notable for rapidly progressive vascular aneurysmal disease and craniofacial defects. Patients are at an increased risk for aneurysm rupture and dissection at younger ages compared to other aneurysmal syndromes. Early surgical intervention is important for prevention of ruptures and/or dissection. Read More

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https://www.hindawi.com/journals/cric/2018/8014820/
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http://dx.doi.org/10.1155/2018/8014820DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6323534PMC
December 2018
3 Reads

Combining Wireless Technology and Behavioral Economics to Engage Patients (WiBEEP) with cardiometabolic disease: a pilot study.

Pilot Feasibility Stud 2019 15;5. Epub 2019 Jan 15.

1Division of Endocrinology, Diabetes and Metabolism, Tufts Medical Center, 800 Washington Street, #268, Boston, MA 02111 USA.

Background: The long-term management of cardiometabolic diseases, such as type 2 diabetes and hypertension, is complex and can be facilitated by supporting patient-directed behavioral changes. The concurrent application of wireless technology and personalized text messages (PTMs) based on behavioral economics in managing cardiometabolic diseases, although promising, has not been studied. The aim of this pilot study was to evaluate the feasibility and acceptability of the concurrent application of wireless home blood pressure (BP) monitoring (as an example of "automated hovering") and PTMs (as an example of "nudging") targeting pharmacotherapy and lifestyle habits in patients with cardiometabolic disease (type 2 diabetes and/or hypertension). Read More

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https://pilotfeasibilitystudies.biomedcentral.com/articles/1
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http://dx.doi.org/10.1186/s40814-019-0395-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6332845PMC
January 2019
3 Reads

Structural insights into the aggregation mechanism of huntingtin exon 1 protein fragment with different polyQ-lengths.

J Cell Biochem 2019 Jan 22. Epub 2019 Jan 22.

Department of Biotechnology, Bhupat and Jyoti Mehta School of Biosciences, Indian Institute of Technology Madras, Chennai, Tamil Nadu, India.

Huntington disease is a neurodegenerative disorder caused by the expansion of polyglutamine (polyQ) at the N-terminal of the huntingtin exon 1 protein. The detailed structure and the mechanism behind this aggregation remain unclear and it is assumed that the polyQ undergoes a conformational transition to the β-sheet structure when it aggregates. Investigating the misfolding of polyQ facilitates the determination of the molecular mechanism of aggregation and can potentially help in developing a novel approach to inhibit polyQ aggregation. Read More

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http://doi.wiley.com/10.1002/jcb.28338
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http://dx.doi.org/10.1002/jcb.28338DOI Listing
January 2019
4 Reads

Health utilities and parental quality of life effects for three rare conditions tested in newborns.

J Patient Rep Outcomes 2019 Jan 22;3(1). Epub 2019 Jan 22.

Child Health Evaluation and Research Center, Department of Pediatrics, University of Michigan Medical School, 300 North Ingalls Building, Ann Arbor, MI, 48109, USA.

Background: Measurement of health utilities is required for economic evaluations. Few studies have evaluated health utilities for rare conditions; even fewer have incorporated disutility that may be experienced by caregivers. This study aimed to (1) estimate health utilities for three rare conditions currently recommended for newborn screening at the state or federal level, and (2) estimate the disutility, or spillover, experienced by parents of patients diagnosed with a rare, heritable disorder. Read More

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https://jpro.springeropen.com/articles/10.1186/s41687-019-00
Publisher Site
http://dx.doi.org/10.1186/s41687-019-0093-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6342747PMC
January 2019
5 Reads

Dietary nitrate consumption and risk of coronary heart disease in women from the Nurses' Health Study.

Br J Nutr 2019 Jan 23:1-19. Epub 2019 Jan 23.

6Centre for Clinical Epidemiology and Biostatistics,Hunter Medical Research Institute,University of Newcastle,Lot 1,Kookaburra Circuit,New Lambton Heights,New South Wales,2305,Australia.

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http://dx.doi.org/10.1017/S0007114519000096DOI Listing
January 2019
3 Reads

Metabolomics and Microbiomes as Potential Tools to Evaluate the Effects of the Mediterranean Diet.

Nutrients 2019 Jan 21;11(1). Epub 2019 Jan 21.

Division of Food Sciences and Nutrition, School of Applied Health Sciences and Wellness, Ohio University, Athens, OH 45701, USA.

The approach to studying diet⁻health relationships has progressively shifted from individual dietary components to overall dietary patterns that affect the interaction and balance of low-molecular-weight metabolites (metabolome) and host-enteric mic{Citation}robial ecology (microbiome). Even though the Mediterranean diet (MedDiet) has been recognized as a powerful strategy to improve health, the accurate assessment of exposure to the MedDiet has been a major challenge in epidemiological and clinical studies. Interestingly, while the effects of individual dietary components on the metabolome have been described, studies investigating metabolomic profiles in response to overall dietary patterns (including the MedDiet), although limited, have been gaining attention. Read More

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http://www.mdpi.com/2072-6643/11/1/207
Publisher Site
http://dx.doi.org/10.3390/nu11010207DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6356665PMC
January 2019
6 Reads

Evolving concepts in the pathogenesis of uraemic cardiomyopathy.

Nat Rev Nephrol 2019 Mar;15(3):159-175

Joan C. Edwards School of Medicine, Marshall University, Huntington, WV, USA.

The term uraemic cardiomyopathy refers to the cardiac abnormalities that are seen in patients with chronic kidney disease (CKD). Historically, this term was used to describe a severe cardiomyopathy that was associated with end-stage renal disease and characterized by severe functional abnormalities that could be reversed following renal transplantation. In a modern context, uraemic cardiomyopathy describes the clinical phenotype of cardiac disease that accompanies CKD and is perhaps best characterized as diastolic dysfunction seen in conjunction with left ventricular hypertrophy and fibrosis. Read More

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http://www.nature.com/articles/s41581-018-0101-8
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http://dx.doi.org/10.1038/s41581-018-0101-8DOI Listing
March 2019
5 Reads

Human Pluripotent Stem Cell-Derived Striatal Interneurons: Differentiation and Maturation In Vitro and in the Rat Brain.

Stem Cell Reports 2019 Feb 17;12(2):191-200. Epub 2019 Jan 17.

Neuroscience and Mental Health Research Institute, School of Medicine, Cardiff University, Cardiff CF24 4HQ, UK; School of Biosciences, Cardiff University, Cardiff CF10 3AX, UK. Electronic address:

Striatal interneurons are born in the medial and caudal ganglionic eminences (MGE and CGE) and play an important role in human striatal function and dysfunction in Huntington's disease and dystonia. MGE/CGE-like neural progenitors have been generated from human pluripotent stem cells (hPSCs) for studying cortical interneuron development and cell therapy for epilepsy and other neurodevelopmental disorders. Here, we report the capacity of hPSC-derived MGE/CGE-like progenitors to differentiate into functional striatal interneurons. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S22136711183053
Publisher Site
http://dx.doi.org/10.1016/j.stemcr.2018.12.014DOI Listing
February 2019
5 Reads

Omega 3 rich diet modulates energy metabolism via GPR120-Nrf2 crosstalk in a novel antioxidant mouse model.

Biochim Biophys Acta Mol Cell Biol Lipids 2019 Apr 16;1864(4):466-488. Epub 2019 Jan 16.

Department of Biomedical Sciences, Joan C. Edwards School of Medicine, Marshall University, 1700 3rd Ave, Huntington, WV 25755-0001, United States. Electronic address:

With obesity rates reaching epidemic proportions, more studies concentrated on reducing the risk and treating this epidemic are vital. Redox stress is an important metabolic regulator involved in the pathophysiology of cardiovascular disease, Type 2 diabetes, and obesity. Oxygen and nitrogen-derived free radicals alter glucose and lipid homeostasis in key metabolic tissues, leading to increases in risk of developing metabolic syndrome. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S13881981183032
Publisher Site
http://dx.doi.org/10.1016/j.bbalip.2019.01.002DOI Listing
April 2019
6 Reads

bacteremia in an immunocompetent patient.

IDCases 2019 2;15:e00481. Epub 2019 Jan 2.

Department of Infectious Disease, Joan C. Edwards School of Medicine, Marshall University, Huntington, West Virginia 25701, USA.

Of the 200 spp. known to exist, approximately 30 have been associated with human disease. Commonly found in soil, marine sediment and mammalian intestinal tracts, these gram-positive bacilli are known to cause infections ranging from cellulitis to septicemia. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S22142509183020
Publisher Site
http://dx.doi.org/10.1016/j.idcr.2018.e00481DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6327907PMC
January 2019
5 Reads

Sample enrichment for clinical trials to show delay of onset in huntington disease.

Mov Disord 2019 Feb 14;34(2):274-280. Epub 2019 Jan 14.

Department of Biostatistics, Indiana University Fairbanks School of Public Health and School of Medicine, Indianapolis, Indiana, USA.

Background: Disease-modifying clinical trials in persons without symptoms are often limited in methods to assess the impact associated with experimental therapeutics. This study suggests sample enrichment approaches to facilitate preventive trials to delay disease onset in individuals with the dominant gene for Huntington disease.

Methods: Using published onset prediction indexes, we conducted the receiver operating curve analysis for diagnosis within a 3-year clinical trial time frame. Read More

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http://doi.wiley.com/10.1002/mds.27595
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http://dx.doi.org/10.1002/mds.27595DOI Listing
February 2019
6 Reads

Blood-brain barrier breakdown is an early biomarker of human cognitive dysfunction.

Nat Med 2019 Feb 14;25(2):270-276. Epub 2019 Jan 14.

Department of Physiology and Neuroscience, Zilkha Neurogenetic Institute, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.

Vascular contributions to cognitive impairment are increasingly recognized as shown by neuropathological, neuroimaging, and cerebrospinal fluid biomarker studies. Moreover, small vessel disease of the brain has been estimated to contribute to approximately 50% of all dementias worldwide, including those caused by Alzheimer's disease (AD). Vascular changes in AD have been typically attributed to the vasoactive and/or vasculotoxic effects of amyloid-β (Aβ), and more recently tau. Read More

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http://www.nature.com/articles/s41591-018-0297-y
Publisher Site
http://dx.doi.org/10.1038/s41591-018-0297-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6367058PMC
February 2019
6 Reads
27.363 Impact Factor

Vascular dysfunction-The disregarded partner of Alzheimer's disease.

Alzheimers Dement 2019 Jan;15(1):158-167

Department of Physiology and Neuroscience, Zilkha Neurogenetic Institute, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA; Alzheimer's Disease Research Center, Keck School of Medicine at the University of Southern California, Los Angeles, CA, USA. Electronic address:

Increasing evidence recognizes Alzheimer's disease (AD) as a multifactorial and heterogeneous disease with multiple contributors to its pathophysiology, including vascular dysfunction. The recently updated AD Research Framework put forth by the National Institute on Aging-Alzheimer's Association describes a biomarker-based pathologic definition of AD focused on amyloid, tau, and neuronal injury. In response to this article, here we first discussed evidence that vascular dysfunction is an important early event in AD pathophysiology. Read More

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http://dx.doi.org/10.1016/j.jalz.2018.07.222DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6338083PMC
January 2019
26 Reads
12.407 Impact Factor

Knowledge and risk perceptions of Israelis towards combustible cigarettes: the need for immediate remedial action.

Isr J Health Policy Res 2019 Jan 14;8(1):10. Epub 2019 Jan 14.

Sackler Medical School, Tel Aviv University, 69978, Ramat Aviv, Israel.

Background: Devastation from the tobacco epidemic continues, with strong government tobacco control policy absent in most countries. Knowledge of the full scope of tobacco harm in populations may form the basis for healthier behavior, de-normalization of smoking, and a consensus about necessary public policy. However, many populations may be poorly-informed about the risks, and this ignorance may undermine both effective policy-making and implementation of tobacco control policies. Read More

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http://dx.doi.org/10.1186/s13584-018-0276-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6330745PMC
January 2019

A Systematic Review and Meta-analysis on Short-term Particulate Matter Exposure and Chronic Obstructive Pulmonary Disease Hospitalizations in China.

J Occup Environ Med 2019 Jan 7. Epub 2019 Jan 7.

School of Public Health, & Key Laboratory of Public Health Safety of Ministry of Education of China, Fudan University, Shanghai 200032, China (Wang, Hao, Xia), Shantou University Medical College, Shantou, China (Au), University of Medicine and Pharmacy, Tirgu Mures, Romania (Au); and Environmental and Occupational Medicine and Epidemiology Program, Harvard T.H. Chan School of Public Health, 665 Huntington Avenue, Boston MA 02115, USA (Christiani).

Objective: We conducted a meta-analysis of short-term PM exposure and COPD hospitalizations in China, included data from two-pollutant model.

Methods: From PubMed and Web of Science, we selected case-crossover or time-series studies conducted in mainland China, Hong Kong, Macao or Taiwan to investigate the association between PM exposure and COPD hospitalizations. The meta-analysis was performed using data from both single-pollutant and two-pollutant model for PM2. Read More

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http://dx.doi.org/10.1097/JOM.0000000000001539DOI Listing
January 2019
3 Reads

Adverse Childhood Events: A Potent Risk Factor of Cardiovascular Risk Factors Especially Among Young Adults.

Am J Med 2019 Jan 8. Epub 2019 Jan 8.

Professor of Population Health and Geography, Harvard T.H. Chan School of Public Health, Department of Social and Behavioural Sciences, 677 Huntington Avenue, Kresge Building Rm 716, Boston, Massachusetts 02115.

Introduction: While cardiovascular disease is the leading cause of death, its determinants include unhealthy behaviours and clinical risk factors and are recognised as the "actual causes" of death. Risk likely accumulates over the life course and adverse childhood experiences may increase the risk of "actual causes" of death. To determine the prevalence and test the association of adverse childhood experiences among unhealthy behaviours and risk factors as a primordial risk factor among young adults. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S00029343193005
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http://dx.doi.org/10.1016/j.amjmed.2018.12.022DOI Listing
January 2019
5 Reads

A Co-occurrence of Trinucleotide Repeat Disorders.

Mov Disord Clin Pract 2018 Nov-Dec;5(6):643-644. Epub 2018 Sep 30.

University of Miami Miller School of Medicine Miami Florida USA.

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https://onlinelibrary.wiley.com/doi/abs/10.1002/mdc3.12664
Publisher Site
http://dx.doi.org/10.1002/mdc3.12664DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6277356PMC
September 2018
2 Reads

Cerebellar degeneration correlates with motor symptoms in Huntington disease.

Ann Neurol 2019 Jan 11. Epub 2019 Jan 11.

Centre for Brain Research, University of Auckland, Auckland, New Zealand.

Objective: Huntington disease (HD) is an autosomal dominant neurodegenerative disorder characterized by variable motor and behavioral symptoms attributed to major neuropathology of mainly the basal ganglia and cerebral cortex. The role of the cerebellum, a brain region involved in the coordination of movements, in HD neuropathology has been controversial. This study utilizes postmortem human brain tissue to investigate whether Purkinje cell degeneration in the neocerebellum is present in HD, and how this relates to disease symptom profiles. Read More

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http://dx.doi.org/10.1002/ana.25413DOI Listing
January 2019
8 Reads

Data-Driven Based Approach to Aid Parkinson's Disease Diagnosis.

Sensors (Basel) 2019 Jan 10;19(2). Epub 2019 Jan 10.

Laboratory of Images, Signals and Intelligent Systems (LISSI), University of Paris-Est Créteil (UPEC), 122 rue Paul Armangot, 94400 Vitry-Sur-Seine, France.

This article presents a machine learning methodology for diagnosing Parkinson's disease (PD) based on the use of vertical Ground Reaction Forces (vGRFs) data collected from the gait cycle. A classification engine assigns subjects to healthy or Parkinsonian classes. The diagnosis process involves four steps: data pre-processing, feature extraction and selection, data classification and performance evaluation. Read More

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http://dx.doi.org/10.3390/s19020242DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6359125PMC
January 2019
6 Reads