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Genetically Determined Epilepsies Perspectives In The Era Of Precision Medicine
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Book Synopsis Genetically Determined Epilepsies: Perspectives in the Era of Precision Medicine by : Mario Mastrangelo
Download or read book Genetically Determined Epilepsies: Perspectives in the Era of Precision Medicine written by Mario Mastrangelo and published by Frontiers Media SA. This book was released on 2022-11-15 with total page 190 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Book Synopsis The role of EEG in the diagnosis and classification of the epilepsy syndromes by : Michalis Koutroumanidis
Download or read book The role of EEG in the diagnosis and classification of the epilepsy syndromes written by Michalis Koutroumanidis and published by John Libbey Eurotext. This book was released on 2018-07-10 with total page 272 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book, written by international experts in clinical epileptology and EEG, comprehensively covers the clinical and EEG features of all paediatric and adult epilepsy syndromes, as recognized by the ILAE. Each syndrome-chapter provides detailed description of the associated seizure types and the characteristic interictal findings in wakefulness and sleep, illustrated by a plethora of EEG plates. It also includes recording protocols that, adapted to available resources and complete with practical information to improve recording strategies, are designed to maximize diagnostic yield. Finally, the diagnostic confidence of the EEG report is rated according to the findings in hand and the available clinical information. A fully informative, but concise and easy-to-use, companion in the daily clinical practice for electroencephalographers and EEG technologists, but also a reference guide for epileptologists and general neurologists who care for children and adults with epilepsy.
Book Synopsis Epilepsy Towards the Next Decade by : Pasquale Striano
Download or read book Epilepsy Towards the Next Decade written by Pasquale Striano and published by Springer. This book was released on 2014-12-02 with total page 243 pages. Available in PDF, EPUB and Kindle. Book excerpt: A comprehensive collection of the most recent knowledge on the biological bases of various kinds of epilepsies and modern clinical approaches to their treatment. Epilepsy affects about 0.5-1% of the world's population (about 50,000,000 individuals) and the main goal of its treatment is to eliminate seizures without creating side effects. Despite numerous advances in the treatment of epilepsy and the approval of several new antiepileptic drugs, about 30% of patients continue to experience recurrent seizures which are medically, physically, and/or socially disabling. The editor of this volume hopes that by bridging the gap between the fundamental biology of epilepsy and its clinical implications he might spur further research and treatment options.
Book Synopsis Innovative approaches and therapeutic perspectives for early-onset neurodevelopmental disorders: from bench to bedside. by : Barbara Bardoni
Download or read book Innovative approaches and therapeutic perspectives for early-onset neurodevelopmental disorders: from bench to bedside. written by Barbara Bardoni and published by Frontiers Media SA. This book was released on 2024-03-11 with total page 176 pages. Available in PDF, EPUB and Kindle. Book excerpt: In partnership with the Jacques Monod Conference “Genetics, environment, signaling & synaptic plasticity in developmental brain disorders: from bench to bedside", the Frontiers in Neuroscience Journal announces an article collection that will highlight cutting-edge research presented at the 2022 meeting from Monday 11th Apr - Friday 15th Apr in Roscoff (Brittany). Neurodevelopmental Disorders (NDDs) are a highly heterogeneous group of disorders with a prevalence of 3% of the worldwide population. These disorders include Intellectual Disability (ID), autism spectrum disorder (ASD), attention deficit hyperactivity disorder, specific learning disorder, motor and language disorder, schizophrenia, and epilepsy. Thus, NDDs are characterized by deficits in cognition, social interaction, behavior, and motor functioning as a result of abnormal brain development. Several of these phenotypes can co-exist in the same patient. Indeed, for instance, up to 50% of ASD patients display also ID. Similarly, the prevalence of epilepsy in ID patients is around 26%. This phenotypic overlap is also mirrored at the genetic and molecular levels. For instance, some pathways (e.g., Rho-GTPase, group I mGluRs, cAMP and WNT) have been found to be altered in different forms of NDDs, both of genetic and environmental origin.
Book Synopsis Human Genetics and Genomics by : Bruce R. Korf
Download or read book Human Genetics and Genomics written by Bruce R. Korf and published by John Wiley & Sons. This book was released on 2012-11-19 with total page 280 pages. Available in PDF, EPUB and Kindle. Book excerpt: This fourth edition of the best-selling textbook, Human Genetics and Genomics, clearly explains the key principles needed by medical and health sciences students, from the basis of molecular genetics, to clinical applications used in the treatment of both rare and common conditions. A newly expanded Part 1, Basic Principles of Human Genetics, focuses on introducing the reader to key concepts such as Mendelian principles, DNA replication and gene expression. Part 2, Genetics and Genomics in Medical Practice, uses case scenarios to help you engage with current genetic practice. Now featuring full-color diagrams, Human Genetics and Genomics has been rigorously updated to reflect today’s genetics teaching, and includes updated discussion of genetic risk assessment, “single gene” disorders and therapeutics. Key learning features include: Clinical snapshots to help relate science to practice ‘Hot topics’ boxes that focus on the latest developments in testing, assessment and treatment ‘Ethical issues’ boxes to prompt further thought and discussion on the implications of genetic developments ‘Sources of information’ boxes to assist with the practicalities of clinical research and information provision Self-assessment review questions in each chapter Accompanied by the Wiley E-Text digital edition (included in the price of the book), Human Genetics and Genomics is also fully supported by a suite of online resources at www.korfgenetics.com, including: Factsheets on 100 genetic disorders, ideal for study and exam preparation Interactive Multiple Choice Questions (MCQs) with feedback on all answers Links to online resources for further study Figures from the book available as PowerPoint slides, ideal for teaching purposes The perfect companion to the genetics component of both problem-based learning and integrated medical courses, Human Genetics and Genomics presents the ideal balance between the bio-molecular basis of genetics and clinical cases, and provides an invaluable overview for anyone wishing to engage with this fast-moving discipline.
Book Synopsis Epileptic Syndromes in Infancy, Childhood and Adolescence - 6th edition by : Michelle Bureau
Download or read book Epileptic Syndromes in Infancy, Childhood and Adolescence - 6th edition written by Michelle Bureau and published by John Libbey Eurotext. This book was released on 2019-06-20 with total page 2274 pages. Available in PDF, EPUB and Kindle. Book excerpt: Since 1984, the year of the publication of its first edition, the famous “Blue Guide” has been the international reference for paediatricians and neuropaediatricians with regard to epileptic syndromes in infants, children and adolescents. This 6th edition reviews some of the most noteworthy developments in the field, particularly in epileptic syndromes, but also focuses on the genetic aspects of the syndromes and their development. Progress brought about by advances in neuroimaging is also discussed in addition to specific etiologies such as parasitic diseases and immune and autoimmune diseases. The different backgrounds of the contributors - coordinators and authors – ensure that the book’s longstanding reputation for objectivity and seriousness, built over almost 35 years, remain well-deserved. This book written by the current leading specialists is recognized worldwide as the international reference in epilepsy.
Download or read book Genetics of Epilepsy written by and published by Elsevier. This book was released on 2014-09-04 with total page 346 pages. Available in PDF, EPUB and Kindle. Book excerpt: The book chapters cover different aspects of epilepsy genetics, starting with the "classical" concept of epilepsies as ion channel disorders. The second part of the book gives credit to the fact that by now non-ion channel genes are recognized as equally important causes of epilepsy. The concluding chapters are designed to offer the reader insight into current methods in epilepsy research. Each chapter is self-contained and deals with a selected topic of interest. Authors are the leading experts in the field of epilepsy research Book covers the most important aspects of epilepsy Interesting for both scientists and clinicians
Book Synopsis The Fourth Industrial Revolution by : Klaus Schwab
Download or read book The Fourth Industrial Revolution written by Klaus Schwab and published by Currency. This book was released on 2017-01-03 with total page 192 pages. Available in PDF, EPUB and Kindle. Book excerpt: World-renowned economist Klaus Schwab, Founder and Executive Chairman of the World Economic Forum, explains that we have an opportunity to shape the fourth industrial revolution, which will fundamentally alter how we live and work. Schwab argues that this revolution is different in scale, scope and complexity from any that have come before. Characterized by a range of new technologies that are fusing the physical, digital and biological worlds, the developments are affecting all disciplines, economies, industries and governments, and even challenging ideas about what it means to be human. Artificial intelligence is already all around us, from supercomputers, drones and virtual assistants to 3D printing, DNA sequencing, smart thermostats, wearable sensors and microchips smaller than a grain of sand. But this is just the beginning: nanomaterials 200 times stronger than steel and a million times thinner than a strand of hair and the first transplant of a 3D printed liver are already in development. Imagine “smart factories” in which global systems of manufacturing are coordinated virtually, or implantable mobile phones made of biosynthetic materials. The fourth industrial revolution, says Schwab, is more significant, and its ramifications more profound, than in any prior period of human history. He outlines the key technologies driving this revolution and discusses the major impacts expected on government, business, civil society and individuals. Schwab also offers bold ideas on how to harness these changes and shape a better future—one in which technology empowers people rather than replaces them; progress serves society rather than disrupts it; and in which innovators respect moral and ethical boundaries rather than cross them. We all have the opportunity to contribute to developing new frameworks that advance progress.
Book Synopsis Precision Medicine and Artificial Intelligence by : Michael Mahler
Download or read book Precision Medicine and Artificial Intelligence written by Michael Mahler and published by Academic Press. This book was released on 2021-03-12 with total page 300 pages. Available in PDF, EPUB and Kindle. Book excerpt: Precision Medicine and Artificial Intelligence: The Perfect Fit for Autoimmunity covers background on artificial intelligence (AI), its link to precision medicine (PM), and examples of AI in healthcare, especially autoimmunity. The book highlights future perspectives and potential directions as AI has gained significant attention during the past decade. Autoimmune diseases are complex and heterogeneous conditions, but exciting new developments and implementation tactics surrounding automated systems have enabled the generation of large datasets, making autoimmunity an ideal target for AI and precision medicine. More and more diagnostic products utilize AI, which is also starting to be supported by regulatory agencies such as the Food and Drug Administration (FDA). Knowledge generation by leveraging large datasets including demographic, environmental, clinical and biomarker data has the potential to not only impact the diagnosis of patients, but also disease prediction, prognosis and treatment options. Allows the readers to gain an overview on precision medicine for autoimmune diseases leveraging AI solutions Provides background, milestone and examples of precision medicine Outlines the paradigm shift towards precision medicine driven by value-based systems Discusses future applications of precision medicine research using AI Other aspects covered in the book include regulatory insights, data analytics and visualization, types of biomarkers as well as the role of the patient in precision medicine
Book Synopsis Epileptic Syndromes in Infancy, Childhood and Adolescence - 5th edition by : Bureau Michelle
Download or read book Epileptic Syndromes in Infancy, Childhood and Adolescence - 5th edition written by Bureau Michelle and published by John Libbey Eurotext. This book was released on 2012-11-12 with total page 682 pages. Available in PDF, EPUB and Kindle. Book excerpt: The ultimate reference book : the 5th updated edition of the famous “blue guide”. Incluided : A DVD with new sequences completes each chapter! Epileptology changes. The syndromic approach is completed by an etiological approach, based on the major advances in genetics and functional genetics. New entities have found their place, and a purely descriptive, “electroclinical” approach is no longer adapted in many circumstances. The 5th edition of the Blue Guide includes the most recent advances. It was necessary to justify the physiological, epidemiologic, genetic and therapeutic approaches and to consider them in the light of the new classification efforts, which are still in the making. Nevertheless, the description of epileptic syndromes, both classical and recent, remains at the core of this book.
Book Synopsis Global Perspectives on Precision Medicine by : Evangel Sarwar
Download or read book Global Perspectives on Precision Medicine written by Evangel Sarwar and published by Springer Nature. This book was released on 2023-04-04 with total page 239 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book presents the promises of Precision Medicine (PM) and the challenges of its implementation in daily clinical routine, while addressing the anticipated ethical and social implications. It is the first book that critically analyzes the potential and the dilemmas relevant to genomics and precision medicine from healthcare, public health and global perspectives. The nine chapters presented in this book elaborate on pharmacogenomics' crucial role in maximizing the potential benefits and minimizing medication's potential risks in groups of people, especially in cancer treatment and other health conditions. Infectious and non-communicable diseases (NCDs) are also discussed in this book by identifying challenges and ways to overcome them. Essential concepts are addressed, such as health-related benefits and harm to individuals and the broader community, including threats to individual privacy and autonomy, which warrant just distribution of scarce resources. The book also identifies and addresses the lack of competency in the healthcare workforce in the era of PM and discusses the path to laying the ethical foundation for the implementation of PM in healthcare organizations.
Book Synopsis Jasper's Basic Mechanisms of the Epilepsies by : Jeffrey L. Noebels
Download or read book Jasper's Basic Mechanisms of the Epilepsies written by Jeffrey L. Noebels and published by OUP USA. This book was released on 2012-06-29 with total page 1258 pages. Available in PDF, EPUB and Kindle. Book excerpt: Jasper's Basic Mechanisms, Fourth Edition, is the newest most ambitious and now clinically relevant publishing project to build on the four-decade legacy of the Jasper's series. In keeping with the original goal of searching for "a better understanding of the epilepsies and rational methods of prevention and treatment.", the book represents an encyclopedic compendium neurobiological mechanisms of seizures, epileptogenesis, epilepsy genetics and comordid conditions. Of practical importance to the clinician, and new to this edition are disease mechanisms of genetic epilepsies and therapeutic approaches, ranging from novel antiepileptic drug targets to cell and gene therapies.
Author :Catherine Lambert de Rouvroit Publisher :Springer Science & Business Media ISBN 13 :3642722571 Total Pages :117 pages Book Rating :4.6/5 (427 download)
Book Synopsis The Reeler Mouse as a Model of Brain Development by : Catherine Lambert de Rouvroit
Download or read book The Reeler Mouse as a Model of Brain Development written by Catherine Lambert de Rouvroit and published by Springer Science & Business Media. This book was released on 2013-03-12 with total page 117 pages. Available in PDF, EPUB and Kindle. Book excerpt: Only five years ago, nobody in his right mind would have consid ered publishing a book on reeler as a model for brain develop ment. Although this interesting mutation has been with us for half a century, it is fair to say that, in spite of a wave of enthusiasm in the late sixties and early seventies, generated primarily by Sidman, Caviness and colleagues, studies of reeler mice fell pro gressively out of fashion during the next two decades. All that changed almost overnight when the cloning of the reeler gene, dubbed reelin, was reported in Tom Curran's laboratory in 1995. The fact that the same gene was identified at the same time independently by two other groups using positional cloning sug gested strongly that reelin was the right candidate. Although the key experiments of transgenic rescue have not been made (and perhaps will never be), the equation "reeler is reelin" has been established beyond reasonable doubt, as alterations of the reelin gene and/or its expression have been found in at least five alleles of reeler and in the mutation Shaking Rat Kawasaki (SRK), an ortholog of reeler.
Book Synopsis Handbook of Epilepsy by : Thomas R. Browne
Download or read book Handbook of Epilepsy written by Thomas R. Browne and published by Jones & Bartlett Learning. This book was released on 2008 with total page 292 pages. Available in PDF, EPUB and Kindle. Book excerpt: Now updated, this bestselling reference is a practical point-of-care guide to the diagnosis and management of epilepsy. This edition's updated coverage of drug therapy includes current American Academy of Neurology guidelines, new drugs, newly approved indications, and more.
Book Synopsis Towards a New 3Rs Era in Experimental Research by : Christopher R. Cederroth
Download or read book Towards a New 3Rs Era in Experimental Research written by Christopher R. Cederroth and published by Frontiers Media SA. This book was released on 2024-04-29 with total page 478 pages. Available in PDF, EPUB and Kindle. Book excerpt: With the persisting need of animal experimentation for fundamental and applied research, the relevance and importance of the 3Rs Principle cannot be ignored. The 3Rs Principle was put forward over 50 years ago, providing an essential framework for more humane animal experimentation in research. In this half-century the research landscape within which this principle is applied has dramatically changed and evolved, with ever more emerging venues to explore for 3Rs advancement and implementation.
Book Synopsis Eyelid Myoclonia with Absences by : John S. Duncan
Download or read book Eyelid Myoclonia with Absences written by John S. Duncan and published by John Libbey Eurotext. This book was released on 1996 with total page 146 pages. Available in PDF, EPUB and Kindle. Book excerpt: Eyelid myoclonia with absences is a recently described and under-recognised syndrome of idiopathic generalised epilepsy. The diagnosis may be confused with tics, attempts at self induction, and epilepsy syndromes with a better prognosis such as childhood absence epilepsy. This book summarises current knowledge on the topic; covering the underlying anatomy and physiology of the eyelids, the clinical and electro-encephalographic features and differential diagnosis in children and adults, including a discussion on the issue of self-induction of absences. The current state of knowledge on inheritance and genetics of the condition and treatment strategies are considered. Throughout, recent advances in the field are couched in an historical context, making this book a comprehensive source for all those who need to understand this syndrome whether from a research standpoint or the clinical management of affected children and adults. As such it will be of value to neurologists, epileptologists and those involved in the care and treatment of epileptic patients.
Book Synopsis Burden of Illness in People with Epilepsy: From Population-Based Studies to Precision Medicine by : Adam Strzelczyk
Download or read book Burden of Illness in People with Epilepsy: From Population-Based Studies to Precision Medicine written by Adam Strzelczyk and published by Frontiers Media SA. This book was released on 2019-03-22 with total page 120 pages. Available in PDF, EPUB and Kindle. Book excerpt: Epilepsy is a common and chronic neurological disease that is characterized by recurrent seizures which impose a major burden on patients, their caregivers, and society. Worldwide more than 39 million people are affected by epilepsy. The aim of this Research Topic was to provide evidence that personalized translational epilepsy research will benefit patients through targeted experimental, clinical and network research.
