2008 Chicago, IL
Total Page:16
File Type:pdf, Size:1020Kb
Load more
Recommended publications
-
D-Penicillamine-Induced Status Dystonicus in a Patient with Wilson’S Disease: a Diagnostic & Therapeutic Challenge
A. Satyasrinivas, et al. D-penicillamine-induced Status Dystonicus | Case Report D-penicillamine-induced Status Dystonicus in A Patient with Wilson’s Disease: A Diagnostic & Therapeutic Challenge A. Satyasrinivas*, Y.S. Kanni, N.Rajesh, M.SaiSravanthi, Vijay kumar Department of General Medicine, Kamineni Institute Of Medical Sciences, Narketpally 508254 Andhra Pradesh, India. DOI Name http://dx.doi.org/10.3126/jaim.v3i2.14066 Keywords Dystonia,Gabapentin Kayser-Fleischer ring, ABSTRACT Trientein hydrochloride, Wilson’s disease. Wilson's disease is an autosomal-recessive disorder of copper metabolism Citation resulting from the absence or dysfunction of a copper-transporting protein. A. Satyasrinivas, Y.S. Kanni, N.Rajesh, The disease is mainly seen in children, adolescents and young adults, and is M.SaiSravanthi, Vijay kumar. D-penicillamine- induced Status Dystonicus in A Patient with characterized by hepatobiliary, neurologic, psychiatric and ophthalmologic Wilson’s Disease: A Diagnostic & Therapeutic (Kayser-Fleischer rings) manifestations. Mechanism of status dystonicus in WD Challenge. Journal of Advances in Internal Medicine is not clear We present here a case study of Wil. son’s disease in 14 year old 2014;03(01):62-64. child with dystonia not responed with routine therapy. INTRODUCTION but patient had developed loose stools, difficulty in speaking and pronouncing linguals. With these compliants he was Wilson’s disease (WD), also known as hepatolenticular admitted in the hospital. On Radio imaging and ophthalmic degeneration was first described in 1912 by Kinnear Wilson as examination he was diagnosed as a case of Wilson’s disease progressive lenticular degeneration. WD is an inherited, fatal and was started with tablet calcium Pantothenate and neurological disorder accompanied by chronic liver disease tablets D-Penicillamine and was discharged. -
(19) United States (12) Patent Application Publication (10) Pub
US 20130289061A1 (19) United States (12) Patent Application Publication (10) Pub. No.: US 2013/0289061 A1 Bhide et al. (43) Pub. Date: Oct. 31, 2013 (54) METHODS AND COMPOSITIONS TO Publication Classi?cation PREVENT ADDICTION (51) Int. Cl. (71) Applicant: The General Hospital Corporation, A61K 31/485 (2006-01) Boston’ MA (Us) A61K 31/4458 (2006.01) (52) U.S. Cl. (72) Inventors: Pradeep G. Bhide; Peabody, MA (US); CPC """"" " A61K31/485 (201301); ‘4161223011? Jmm‘“ Zhu’ Ansm’ MA. (Us); USPC ......... .. 514/282; 514/317; 514/654; 514/618; Thomas J. Spencer; Carhsle; MA (US); 514/279 Joseph Biederman; Brookline; MA (Us) (57) ABSTRACT Disclosed herein is a method of reducing or preventing the development of aversion to a CNS stimulant in a subject (21) App1_ NO_; 13/924,815 comprising; administering a therapeutic amount of the neu rological stimulant and administering an antagonist of the kappa opioid receptor; to thereby reduce or prevent the devel - . opment of aversion to the CNS stimulant in the subject. Also (22) Flled' Jun‘ 24’ 2013 disclosed is a method of reducing or preventing the develop ment of addiction to a CNS stimulant in a subj ect; comprising; _ _ administering the CNS stimulant and administering a mu Related U‘s‘ Apphcatlon Data opioid receptor antagonist to thereby reduce or prevent the (63) Continuation of application NO 13/389,959, ?led on development of addiction to the CNS stimulant in the subject. Apt 27’ 2012’ ?led as application NO_ PCT/US2010/ Also disclosed are pharmaceutical compositions comprising 045486 on Aug' 13 2010' a central nervous system stimulant and an opioid receptor ’ antagonist. -
YTN Ci Y COOCH3 --Al-E- F 7.1% F 5 6
USOO5853696A United States Patent (19) 11 Patent Number: 5,853,696 Elmaleh et al. (45) Date of Patent: Dec. 29, 1998 54 SUBSTITUTED 2-CARBOXYALKYL-3 Carroll et al., “Synthesis, Ligand Binding, QSAR, and (FLUOROPHENYL)-8-(3-HALOPROPEN-2- CoMFA Study . , Journal of Medicinal Chemistry YL) NORTROPANES AND THEIR USE AS 34:2719-2725, 1991. IMAGING AGENTS FOR Madras et al., “N-Modified Fluorophenyltropane Analogs. NEURODEGENERATIVE DISORDERS ... ", Pharmcology, Biochemistry & Behavior 35:949–953, 1990. 75 Inventors: David R. Elmaleh; Bertha K. Madras, Milius et al., “Synthesis and Receptor Binding of N-Sub both of Newton; Peter Meltzer, stituted Tropane Derivatives . , Journal of Medicinal Lexington; Robert N. Hanson, Newton, Chemistry 34:1728-1731, 1991. all of Mass. Boja et al. “New, Potent Cocaine Analogs: Ligand Binding 73 Assignees: Organix, Inc., Woburn; The General and Transport Studies in Rat Striatum' European J. of Hospital Corporation, Boston; The Pharmacology, 184:329–332 (1990). President and Fellows of Harvard Brownell et al. *Use of C-11 College, Cambridge; Northeastern 2B-Carbomethoxy-3B-4-Fluorophenyl Tropane (C-11 University, Boston, all of Mass. CFT) in Studying Dopamine Fiber Loss in a Primate Model of Parkinsonism” J. Nuclear Med. Abs., 33:946 (1992). 21 Appl. No.: 605,332 Canfield et al. “Autoradiographic Localization of Cocaine Binding Sites by HICFT (I HIWIN 35,428) in the 22 Filed: Feb. 20, 1996 Monkey Brain” Synapse, 6:189-195 (1990). Carroll et al. “Probes for the Cocaine Receptor. Potentially Related U.S. Application Data Irreversible Ligands for the Dopamine Transporter” J. Med. 62 Division of Ser. No. 142.584, Oct. -
Current Topics in Behavioral Neurosciences
Current Topics in Behavioral Neurosciences Series Editors Mark A. Geyer, La Jolla, CA, USA Bart A. Ellenbroek, Wellington, New Zealand Charles A. Marsden, Nottingham, UK For further volumes: http://www.springer.com/series/7854 About this Series Current Topics in Behavioral Neurosciences provides critical and comprehensive discussions of the most significant areas of behavioral neuroscience research, written by leading international authorities. Each volume offers an informative and contemporary account of its subject, making it an unrivalled reference source. Titles in this series are available in both print and electronic formats. With the development of new methodologies for brain imaging, genetic and genomic analyses, molecular engineering of mutant animals, novel routes for drug delivery, and sophisticated cross-species behavioral assessments, it is now possible to study behavior relevant to psychiatric and neurological diseases and disorders on the physiological level. The Behavioral Neurosciences series focuses on ‘‘translational medicine’’ and cutting-edge technologies. Preclinical and clinical trials for the development of new diagostics and therapeutics as well as prevention efforts are covered whenever possible. Cameron S. Carter • Jeffrey W. Dalley Editors Brain Imaging in Behavioral Neuroscience 123 Editors Cameron S. Carter Jeffrey W. Dalley Imaging Research Center Department of Experimental Psychology Center for Neuroscience University of Cambridge University of California at Davis Downing Site Sacramento, CA 95817 Cambridge CB2 3EB USA UK ISSN 1866-3370 ISSN 1866-3389 (electronic) ISBN 978-3-642-28710-7 ISBN 978-3-642-28711-4 (eBook) DOI 10.1007/978-3-642-28711-4 Springer Heidelberg New York Dordrecht London Library of Congress Control Number: 2012938202 Ó Springer-Verlag Berlin Heidelberg 2012 This work is subject to copyright. -
Compositions and Methods for Selective Delivery of Oligonucleotide Molecules to Specific Neuron Types
(19) TZZ ¥Z_T (11) EP 2 380 595 A1 (12) EUROPEAN PATENT APPLICATION (43) Date of publication: (51) Int Cl.: 26.10.2011 Bulletin 2011/43 A61K 47/48 (2006.01) C12N 15/11 (2006.01) A61P 25/00 (2006.01) A61K 49/00 (2006.01) (2006.01) (21) Application number: 10382087.4 A61K 51/00 (22) Date of filing: 19.04.2010 (84) Designated Contracting States: • Alvarado Urbina, Gabriel AT BE BG CH CY CZ DE DK EE ES FI FR GB GR Nepean Ontario K2G 4Z1 (CA) HR HU IE IS IT LI LT LU LV MC MK MT NL NO PL • Bortolozzi Biassoni, Analia Alejandra PT RO SE SI SK SM TR E-08036, Barcelona (ES) Designated Extension States: • Artigas Perez, Francesc AL BA ME RS E-08036, Barcelona (ES) • Vila Bover, Miquel (71) Applicant: Nlife Therapeutics S.L. 15006 La Coruna (ES) E-08035, Barcelona (ES) (72) Inventors: (74) Representative: ABG Patentes, S.L. • Montefeltro, Andrés Pablo Avenida de Burgos 16D E-08014, Barcelon (ES) Edificio Euromor 28036 Madrid (ES) (54) Compositions and methods for selective delivery of oligonucleotide molecules to specific neuron types (57) The invention provides a conjugate comprising nucleuc acid toi cell of interests and thus, for the treat- (i) a nucleic acid which is complementary to a target nu- ment of diseases which require a down-regulation of the cleic acid sequence and which expression prevents or protein encoded by the target nucleic acid as well as for reduces expression of the target nucleic acid and (ii) a the delivery of contrast agents to the cells for diagnostic selectivity agent which is capable of binding with high purposes. -
Consensus Guideline for the Diagnosis and Treatment of Aromatic L-Amino
Wassenberg et al. Orphanet Journal of Rare Diseases (2017) 12:12 DOI 10.1186/s13023-016-0522-z REVIEW Open Access Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency Tessa Wassenberg1, Marta Molero-Luis2, Kathrin Jeltsch3, Georg F. Hoffmann3, Birgit Assmann3, Nenad Blau4, Angeles Garcia-Cazorla5, Rafael Artuch2, Roser Pons6, Toni S. Pearson7, Vincenco Leuzzi8, Mario Mastrangelo8, Phillip L. Pearl9, Wang Tso Lee10, Manju A. Kurian11, Simon Heales12, Lisa Flint13, Marcel Verbeek1,14, Michèl Willemsen1 and Thomas Opladen3* Abstract Aromatic L-amino acid decarboxylase deficiency (AADCD) is a rare, autosomal recessive neurometabolic disorder that leads to a severe combined deficiency of serotonin, dopamine, norepinephrine and epinephrine. Onset is early in life, and key clinical symptoms are hypotonia, movement disorders (oculogyric crisis, dystonia, and hypokinesia), developmental delay, and autonomic symptoms. In this consensus guideline, representatives of the International Working Group on Neurotransmitter Related Disorders (iNTD) and patient representatives evaluated all available evidence for diagnosis and treatment of AADCD and made recommendations using SIGN and GRADE methodology. In the face of limited definitive evidence, we constructed practical recommendations on clinical diagnosis, laboratory diagnosis, imaging and electroencephalograpy, medical treatments and non-medical treatments. Furthermore, we identified topics for further research. We believe this guideline will improve the care for AADCD patients around the world whilst promoting general awareness of this rare disease. Keywords: Aromatic l-amino acid decarboxylase deficiency, AADC deficiency, Neurotransmitter, Dopamine, Serotonin, Guideline, Infantile dystonia-parkinsonism, SIGN, GRADE German abstract Der Aromatische L-Aminosäuren Decarboxylase Mangel (AADCD) ist eine seltene autosomal rezessive neurometabolische Störung, die zu einem schweren kombinierten Mangel an Serotonin, Dopamin, Norepinephrin und Epinephrin führt. -
2010 Buenos Aires, Argentina
Claiming CME Credit To claim CME credit for your participation in the MDS 14th Credit Designation International Congress of Parkinson’s Disease and Movement The Movement Disorder Society designates this educational Disorders, International Congress participants must complete activity for a maximum of 35 AMA PRA Category 1 Credits™. and submit an online CME Request Form. This form will be Physicians should only claim credit commensurate with the available beginning June 15. extent of their participation in the activity. Instructions for claiming credit: If you need a Non-CME Certificate of Attendance, please tear • After June 15, visit the MDS Web site. out the Certificate in the back of this Program and write in • Log in after reading the instructions on the page. You will your name. need your International Congress File Number which is located on your name badge or e-mail The Movement Disorder Society has sought accreditation from [email protected]. the European Accreditation Council for Continuing Medical • Follow the on-screen instructions to claim CME Credit for Education (EACCME) to provide CME activity for medical the sessions you attended. specialists. The EACCME is an institution of the European • You may print your certificate from your home or office, or Union of Medical Specialists (UEMS). For more information, save it as a PDF for your records. visit the Web site: www.uems.net. Continuing Medical Education EACCME credits are recognized by the American Medical The Movement Disorder Society is accredited by the Association towards the Physician’s Recognition Award (PRA). Accreditation Council for Continuing Medical Education To convert EACCME credit to AMA PRA category 1 credit, (ACCME) to provide continuing medical education for contact the AMA online at www.ama-assn.org. -
Case Reports Reversal of Status Dystonicus After Relocation of Pallidal Electrodes in DYT6 Generalized Dystonia
Freely available online Case Reports Reversal of Status Dystonicus after Relocation of Pallidal Electrodes in DYT6 Generalized Dystonia 1*{ 2,3{ 4 1 4 2,5 D.L. Marinus Oterdoom , Martje E. van Egmond , Luisa Cassini Ascencao , J. Marc C. van Dijk , Assel Saryyeva , Martijn Beudel , 4 6,7 4 2 2 4 Joachim Runge , Tom J. de Koning , Mahmoud Abdallat , Hendriekje Eggink , Marina A.J. Tijssen , Joachim K. Krauss 1 Department of Neurosurgery, University of Groningen, University Medical Center Groningen, the Netherlands, 2 Department of Neurology, University of Groningen, University Medical Center Groningen, the Netherlands, 3 Ommelander Ziekenhuis Groningen, Department of Neurology, Delfzijl and Winschoten, the Netherlands, 4 Department of Neurosurgery, Hannover Medical School, Germany, 5 Department of Neurology, Isala Klinieken, Zwolle, the Netherlands, 6 Department of Pediatrics, University of Groningen, University Medical Center Groningen, the Netherlands, 7 Department of Genetics, University of Groningen, University Medical Center Groningen, the Netherlands Abstract Background: DYT6 dystonia can have an unpredictable clinical course and the result of deep brain stimulation (DBS) of the internal part of the globus pallidus (GPi) is known to be less robust than in other forms of autosomal dominant dystonia. Patients who had previous stereotactic surgery with insufficient clinical benefit form a particular challenge with very limited other treatment options available. Case Report: A pediatric DYT6 patient unexpectedly deteriorated to status dystonicus 1 year after GPi DBS implantation with good initial clinical response. After repositioning the DBS electrodes the status dystonicus resolved. Discussion: This case study demonstrates that medication-resistant status dystonicus in DYT6 dystonia can be reversed by relocation of pallidal electrodes. -
Movement Disorder Emergencies 1 4 Robert L
Movement Disorder Emergencies 1 4 Robert L. Rodnitzky Abstract Movement disorders can be the source of signifi cant occupational, social, and functional disability. In most circumstances the progression of these disabilities is gradual, but there are circumstances when onset is acute or progression of a known movement disorders is unexpectedly rapid. These sudden appearances or worsening of abnormal involuntary movements can be so severe as to be frightening to the patient and his family, and disabling, or even fatal, if left untreated. This chapter reviews movement disorder syndromes that rise to this level of concern and that require an accurate diagnosis that will allow appropriate therapy that is suffi cient to allay anxiety and prevent unnecessary morbidity. Keywords Movement disorders • Emergencies • Acute Parkinsonism • Dystonia • Stiff person syndrome • Stridor • Delirium severe as to be frightening to the patient and his Introduction family, and disabling, or even fatal, if left untreated. This chapter reviews movement disor- Movement disorders can be the source of signifi - der syndromes that rise to this level of concern cant occupational, social, and functional disabil- and that require an accurate diagnosis that will ity. In most circumstances the progression of allow appropriate therapy that is suffi cient to these disabilities is gradual, but there are circum- allay anxiety and prevent unnecessary morbidity. stances when onset is acute or progression of a known movement disorders is unexpectedly rapid. These sudden appearances or worsening Acute Parkinsonism of abnormal involuntary movements can be so The sudden or subacute onset of signifi cant par- R. L. Rodnitzky , MD (*) kinsonism, especially akinesia, is potentially very Neurology Department , Roy J. -
Scientific Advisory Board
SCIENTIFIC ADVISORY BOARD ANNE B. YOUNG, MD, PHD CHAIR, SCIENTIFIC ADVISORY Board Chair Emerita, Department of Neurology Massachusetts General Hospital Distinguished Julieanne Dorn Professor of Neurology Harvard Medical School Royal College of Physicians, London American SCIENTIFICAcademy of Arts and Sciences ADVISORYNational Academy of MedicineBOARD ith funding from the Hereditary Disease Foundation and the National Institutes of Health, Anne WYoung has been involved in Huntington’s disease research for four decades. Anne participated in the Hereditary Disease Foundation’s Venezuela HD Project from 1981 until 2002 when the team could no longer return because of then Venezuelan President Hugo Chavez’s restrictions. In Venezuela, Anne focused on making accurate diagnoses, drawing blood for DNA, taking skin biopsies and helping collect tissue samples generously donated by the Venezuelan HD family members. Of the 20,000 neurological exams performed, Anne did many of them. Anne trained and mentored medical students and residents who joined the team. Anne and her late husband John B. (“Jack”) Penney, Jr. tested new models of how the basal ganglia controls movements. They based their theories on data from animal and postmortem human brain samples. They discovered, through clever experiments, how the basal ganglia are affected in Huntington’s and Parkinson’s diseases. The basal ganglia controls movement, reward, emotions and memory. Anne and Jack’s model suggested the design of therapies that would help both diseases. Anne was recruited in 1991 to Harvard Medical School and Massachusetts General Hospital as the hospital’s first female head of a department. She founded and designed the MassGeneral Institute for Neurodegenerative Diseases (MIND) in 2001 to accelerate the discovery of new and effective therapies for these disorders. -
The Roles of Dopamine and Noradrenaline in the Pathophysiology and Treatment of Attention-Deficit/ Hyperactivity Disorder
REVIEW The Roles of Dopamine and Noradrenaline in the Pathophysiology and Treatment of Attention-Deficit/ Hyperactivity Disorder Natalia del Campo, Samuel R. Chamberlain, Barbara J. Sahakian, and Trevor W. Robbins Through neuromodulatory influences over fronto-striato-cerebellar circuits, dopamine and noradrenaline play important roles in high-level executive functions often reported to be impaired in attention-deficit/hyperactivity disorder (ADHD). Medications used in the treatment of ADHD (including methylphenidate, dextroamphetamine and atomoxetine) act to increase brain catecholamine levels. However, the precise prefrontal cortical and subcortical mechanisms by which these agents exert their therapeutic effects remain to be fully specified. Herein, we review and discuss the present state of knowledge regarding the roles of dopamine (DA) and noradrenaline in the regulation of cortico- striatal circuits, with a focus on the molecular neuroimaging literature (both in ADHD patients and in healthy subjects). Recent positron emission tomography evidence has highlighted the utility of quantifying DA markers, at baseline or following drug administration, in striatal subregions governed by differential cortical connectivity. This approach opens the possibility of characterizing the neurobiological underpinnings of ADHD (and associated cognitive dysfunction) and its treatment by targeting specific neural circuits. It is anticipated that the application of refined and novel positron emission tomography methodology will help to disentangle the overlapping and dissociable contributions of DA and noradrenaline in the prefrontal cortex, thereby aiding our understanding of ADHD and facilitating new treatments. Key Words: Attention-deficit/hyperactivity disorder, dopamine, DA and NA in the pathophysiology of ADHD, with a focus on the frontostriatal circuits, nigrostriatal projections, noradrenaline, pos- molecular neuroimaging literature. -
Dopamine Transporter Imaging for the Diagnosis of Dementia with Lewy Bodies (Review)
Dopamine transporter imaging for the diagnosis of dementia with Lewy bodies (Review) McCleery J, Morgan S, Bradley KM, Noel-Storr AH, Ansorge O, Hyde C This is a reprint of a Cochrane review, prepared and maintained by The Cochrane Collaboration and published in The Cochrane Library 2015, Issue 1 http://www.thecochranelibrary.com Dopamine transporter imaging for the diagnosis of dementia with Lewy bodies (Review) Copyright © 2015 The Cochrane Collaboration. Published by John Wiley & Sons, Ltd. TABLE OF CONTENTS HEADER....................................... 1 ABSTRACT ...................................... 1 PLAINLANGUAGESUMMARY . 2 BACKGROUND .................................... 3 OBJECTIVES ..................................... 5 METHODS ...................................... 5 RESULTS....................................... 8 Figure1. ..................................... 8 Figure2. ..................................... 10 Figure3. ..................................... 11 Figure4. ..................................... 11 Figure5. ..................................... 11 DISCUSSION ..................................... 13 AUTHORS’CONCLUSIONS . 13 ACKNOWLEDGEMENTS . 14 REFERENCES ..................................... 14 CHARACTERISTICSOFSTUDIES . 16 DATA ........................................ 21 Test 1. 123I-FP-CIT SPECT scan, analysed semi-quantitatively, in patients with dementia meeting clinical criteria for AD orDLBorboth.................................. 21 Test 2. 123I-FP-CIT SPECT scan, rated visually, in patients with dementia