Channelopathies PowerPoint PPT Presentations
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Title: Hypokalemic Periodic Paralysis: How Do Mutations of Na and Ca Channels Produce a Similar Phenotype? How Does a Ca Channel Mutation Alter Na and K Channel ...
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Molecular structure of Voltage-sensitive Cl- channel ... Myotonia from Cl- channel. Myotonia from Cl- channel. Myotonia from Cl- channel. Myotonic run ...
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One of ten consortium Rare Diseases Network. Data Technology ... Anthony Amato, M.D., Site PI, Brigham and Women's Hospital. Robert Baloh, M.D., Site PI, UCLA ...
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Diagnosing Cardiac Channelopathies Assembling the Pieces of the Diagnostic Puzzle
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... gastritis Mesenteric ischemia Pacreatitis Withdrawal syndromes Metabolic acidosis DKA Methanol, Ethylene glycol AKA - labs pH low, ...
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Title: Aucun titre de diapositive Author: pharmed 3-2 Last modified by: G rard Pons Created Date: 1/12/1999 8:59:34 AM Document presentation format
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Generalized weakness and muscle wasting affecting limb and trunk muscles first. ... Weakness and wasting of voluntary muscles in the face, neck, and lower arms and ...
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Ion Channels Acetylcholinesterase 5000 molecules/sec Introduction of TTX in 1964 showed that Na current could be blocked while leaving voltage activated K ...
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Glutamate: UBN Cerebellar circuitry Cerebellar Input: Climbing fibers: Inferior olive Mossy fibers: All other input Cerebellar output: DCN ...
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A Cholinergic Synapse http://www.youtube.com/watch?v=SCasruJT-DU Action potential animations http://www.blackwellpublishing.com/matthews/channel.html http://highered ...
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hypertrophy often of gluteal and leg muscles with atrophy of forearm muscles ... face, tongue, pharyngeal muscles, hands and legs ...
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Mark Marsh LMCB, MRC Cell Biology Unit & Department of Developmental Biology, UCL *
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... WGS Represents a Sea-Change in Clinical Laboratory ... information for future Receive medically actionable ... DNA SEQUENCING AND WHOLE ...
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Title: Neuromuscular Localization Subject: for 2nd year students (ICN) Author: Edward Valenstein Last modified by: user Created Date: 1/7/2000 3:28:22 AM
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Psicof rmacos y Arritmias Card acas Dr. Walter Reyes Caorsi, FACC Montevideo-Uruguay
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Skeletal muscle Fiber types. Depending on the nature of the nerve fiber doing the enervation, the associated skeletal muscle develops into one of two major subpopulations
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Cutaneous mastocytosis. Urticaria Pigmentosa. Typical UP. Plaque-forme. Nodular ... Diffuse cutaneous mastocytosis. Mastocytoma of skin. Indolent systemic mastocytosis ...
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Sudden Cardiac Death and Sport Dr Deirdre Ward Director, Centre for Cardiovascular Risk in Younger Persons Adelaide and Meath Hospital, Tallaght
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Title: SINDROME DE FATIGA CRONICA ESTRATIFICACION Y CUANTIFICACION Author: Pepe Last modified by: jalegre Created Date: 11/13/2004 10:14:52 AM Document presentation ...
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Title: Rhythm Disturbances Author: Dr John Bayliss Last modified by: JB Created Date: 5/14/1995 5:52:38 PM Document presentation format: 35mm Slides
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REVISI N DE LA LITERATURA: ALTERACIONES HIDROELECTROL TICAS Y CIDO-B SICAS 2003-2005 Dr Manuel Macia Servicio de Nefrolog a Hospital Universitario Nta Sra de ...
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NEUROPATHIES, MYOPATHIES
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Cardiovascular Pathology (modification of Dr. Veinot s presentation) Michel Dionne MD FRCPC for John P. Veinot MD FRCPC Professor of Pathology
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A sudden temporary loss of consciousness associated with ... Supine and upright blood pressure. Monitoring. ECG. Holter /Event. Insertable Loop Recorder (ILR) ...
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Why Should We Expect That PPE Would Work? 9. SCD Differential Diagnosis: Structural/Functional ... Does anyone in your family have a heart problem? ...
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* * * * Should whole-genome/exome sequencing be applied to: Newborn screening? Prenatal diagnosis? Couple screening? Population screening? NIH Task Force on Genetic ...
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National Library of Medicine - ClinicalTrials.gov ... ClinicalTrials.gov Rare Diseases. Rare Diseases ... Research and Clinical Trials - CRISP, ClinicalTrials.gov ...
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Top Ten (or 11) EKG Killers Micelle Haydel, MD LSUHSC New Orleans Credit to Amal Mattu, MD Lectures: ACEP EmedHome Podcasts Visiting Lectures Books: ECG's for the ...
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... very sensitive to temperature. Myotonia and chloride channel ... Flanked by nuclear matrix attachment regions (MARs) Knock out mice. SIX5- premature cataract ...
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Cardiac strong inward rectifier potassium channels . JMCC ... p. 544-549. Canaux spinaux TWIK: tandem of P domains in a weak inwardly rectifying K+ channel ...
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The Preparticipation Physical Evaluation
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26 Genes For Which Distribution of polymorphisms Differs in SIDS ... Normal resting ECG. Genetic Risk Factors, cont. Serotonin (5-HT) (3) Important neurotransmitter ...
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Most common headaches are tension-type headache (TTH), migraine ... Cerebrovascular Vertebrobasilar TIA, posterior fossa CVA, migraine. Psychogenic. Red Flags ...
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Lennox Gastaut Syndrome Enrique Feoli MD North East Regional Epilepsy Group Goals Understand the definition of LGS Outline the clinical presentation of LGS Compare ...
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Periodic Paralyses Dan Imler Morning Report Background The heterogeneous group of muscle diseases known as periodic paralyses (PP) is characterized by episodes of ...
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Acetyl Co-A provides two-carbon acetyl units for chain elongation in ... Dehydroepiandrosterone (DHEA) and its sulfate and. Progesterone (PROG) Neurosteroids ...
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Cerebellum NMJ Brachial Plexus, Median, Radial, and Ulnar nerves Cerebellum [17 cm x 120cm] Anatomy Relation 3 Lobes Functional 4 deep nuclei fastigial Interposed x 2 ...
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IV adenosine causes transient atrioventricular block and reveals the underlying atrial flutter. Wide complex tachycardia One of three things: ...
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Clarify which autism subpopulation is under investigation ... Based Studies Support 'No Link Between Vaccines and Autism' ... Offit on Autism Epidemiology ' ...
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... R. Sokol Rare Lung Disease B. Trapnell Rare Thrombotic Disorders T. Ortel Urea Cycle Disorders M. Batshaw Vasculitis Clinical Research ...
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Pharmacology of Antiepileptic Drugs Melanie K. Tallent, Ph.D. tallent@drexel.edu Basic Mechanisms Underlying Seizures and Epilepsy Seizure: the clinical manifestation ...
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Afebrile convulsions. FS/FS with other seizures. Absence. Myoclonic. Atonic. Partial ... Usually febrile and afebrile GTCS 5 years ...
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Nourritures, boissons, hormones, tabac, allerg nes, Nitrites/Nitrates, glutamate (cuisine ... am lior e par le calme, le repos, l 'obscurit . La c phal e de la ...
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Develop (strategic) Implementation Plan. Gatekeepers (who is accountable) ... URAC & Consumer WebWatch 'Setting the Public Agenda for Online Health Search' 2003 ...
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Causes of SCD may include structural heart disease or a genetic channelopathy ... Structural congenital heart disease - before and after corrective surgery ...
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Muscle Dystrophies Muscular Dystrophy Duchenne/ Becker Emery-Dreifuss, Congenital Limb-Girdle, Distal Myopathy Onset 2-6 years Childhood to early teens, ...
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SUDDEN CARDIAC DEATH IN YOUNG ATHLETES Can the Cardiac Preparticipation Examination Save Lives
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ALTERNATING HEMIPLEGIA OF CHILDHOOD: TREATMENT ... Diazepam N=34 Clonazepam N=28 Lorazepam N=25 Benzodiazepines Valproic Acid N=42 Phenobarbital N=42 ...
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Voltage-Gated Sodium Channels ... Kv4.2 Nav 1 increases Kv4.2-encoded current densities Coexpression with Nav 1 increases total and cell-surface Kv4.2 protein ...
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Synaptic transmission Objectives: Synaptic transmission Objectives: * -Hyper/Hypokalemia Hyper/Hypocalcemia Channelopathy TTX *
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Impaired Consciousness Dr Nin Bajaj Consultant Neurologist QMC & DRI Assessment Glasgow Coma Scale Eye opening-(E) Spontaneous-4 To speech-3 To pain-2 None-1 GCS Best ...
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... Long QT syndrome Brugada syndrome Catecholaminergic polymorphic VT Wolf-Parkinson-White syndrome Congenital ... PowerPoint Presentation Last modified by:
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Dysferlin aggregation in limb-girdle muscular dystrophy type 2B/myoshi myopathy necessitates mutational ... Proximal vs distal (DM1, sIBM, FSH, nemaline rod ...
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The Genetics of Alternating Hemiplegia of Childhood A long and winding road Matthew T. Sweney, MD MS Clinical Instructor, University of Utah AHC Family Meeting
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Rare Diseases Research Activities at the National Institutes of Health ... National Institute of Environmental Health Sciences ...
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Title: Neuromuscular disorders, myopathies Author: Neurol giai Klinika Last modified by: zsuzsi Created Date: 3/24/2003 3:34:52 PM Document presentation format
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