Practical Guide To Neurogenetics E Book

This simple guide to neurogenetics demystifies the overwhelming amount of information on the subject so you can identify key clinical features and understand your management options. Reach relevant differential diagnoses and provide appropriate counseling to your patients using the symptom-based approach. By integrating genetic and neurological approaches to diagnoses, this book ensures that the neurological consequences of a genetic diagnosis and the genetic consequences of a neurological diagnosis are clear and explicit. Concise and portable, this book is ideal for easy reference in clinical use. Details the underlying basic science and clinical features of genetic disorders by taking a symptom-based approach to provide you with a comprehensive understanding of the field. Focuses on the clinical application of neurogenetics to be of practical use to you in the clinic. Clarifies the neurological consequences of a genetic diagnosis and the genetic consequences of a neurological diagnosis by integrating genetic and neurological approaches to diagnoses. Discusses and evaluates necessary investigations so you know when to use them and when to refer. Highlights diagnostic and therapeutic tips so you can learn new concepts or refine your skills in practice. Refers to online sources, such as Online Mendelian Inheritance in Man (OMIM) and others, to help you supplement your knowledge.

A coherent, up-to-date overview of the rapidly advancing field of neurogenetics for neurologists of any level.

Written by a noted leader in electroneurodiagnostic technology, this book will be a standard text and reference for technologists, neurology residents, and clinical neurophysiology fellows. It will be a valuable aid in preparing for the ABRET (American Board of Registration of Electroencephalographic and Evoked Potential Technologists) certification or the neurophysiology boards. The first part covers the technical aspects of electroneurodiagnosis; the second part covers clinical applications and diagnostic utilities. The text focuses on digital recording and includes analyses based on digital data. Emphasis is on pattern recognition, artifacts recognition, technical pitfalls, and the clinical correlates of electroencephalography. The book includes material to assist students in recognizing specific artifacts. Coverage includes principles of digital recording, electronics and electrical safety. A companion Website will include a question bank and a streaming video showing how to place electrodes.

Popular for its highly visual, clinical approach, Medical Genetics delivers an accessible yet thorough understanding of this active and fast-changing field. Key updates in this new edition cover the latest developments which are integrated with clinical practice to emphasize the central principles and how they apply to practice. Photographs, illustrations, and tables, along with boxes containing patient/family vignettes demonstrate clinical relevance and enhance visual impact of the material for easier and more effective learning and retention. Mini-summaries, study questions, suggested reading, and a detailed glossary supplement and reinforce what you learn from the text. More than 230 photographs, illustrations, and tables, along with patient/family vignettes clarify difficult concepts and demonstrate clinical significance. Clinical Commentary Boxes help demonstrate how the hard science of genetics has real applications to everyday patient problems and prepare you for problem-based integrated courses. Self-assessment study questions aid in retention and review of key material. The latest knowledge and research on gene identification, cancer genetics, gene testing and gene therapy, common disorders, ethical and social issues, and much more so you can keep up with current developments in genetics.

Get the tools you need to evaluate, diagnose, and treat patients with neurogenic communication disorders! Introduction to Neurogenic Communication Disorders, 8th Edition provides a solid foundation in the neurology of communication, as well as the causes, symptoms, diagnosis, assessment, and management of commonly encountered neurogenic communication disorders in adults. A concise, evidence-based approach shows how to measure and treat abnormalities such as aphasia, dysarthria, right-hemisphere syndrome, and traumatic brain injury syndrome. This edition is updated with new coverage of laboratory tests, blast-related injuries to the head, and medications for dementia. Created by neurogenic communication disorders educator Robert H. Brookshire and continued by Malcolm R. McNeil, this bestselling text will enhance your skills in the rehabilitation of clients with neurogenic communication disorders. A clear, concise approach makes complex material easy to follow and understand. Clinical vignettes show how to apply principles to practice and illustrate how patients are evaluated and treated. Thought questions at the end of each chapter are based on realistic scenarios and challenge you to assess your understanding, think critically, and apply information to clinical situations. Suggested answers are included in the appendix. Clinically relevant sidebars include related facts, information, and tips for recall or therapy. More than 200 photographs and images include anatomic illustrations, scans using various brain imaging techniques, and examples of assessment tests. Evidence-based practice is reinforced by the use of scientific, evidence-based rationales to support the effectiveness of treatment approaches. Student-friendly features enhance learning with chapter outlines, critical thinking exercises, medical protocols, sample paperwork, patient transcripts, commonly used medical abbreviations, and a glossary with definitions of key vocabulary. General Concepts summary points highlight the most important material in each chapter. NEW content on closed-head injuries as a consequence of blast injury is included in the Traumatic Brain Injury chapter, addressing a pathophysiology often found in Iraq and Afghanistan war veterans. UPDATED content includes new information on medications for treatment of persons with dementia, the latest laboratory tests for neurologic assessment, and the most current cognitive rehabilitation approaches. NEW! More Thought questions in each chapter help you apply concepts to clinical situations. Additional content on evidence-based practice includes systematic reviews and meta-analyses relating to the efficacy and effectiveness of specific treatment approaches. Additional graphics, clinical photographs, and tables depict key information and concepts.

Aims To some, the field of neurogenetics appears perplexing and indecipherable. In this volume, we will address this issue by providing clinicians with a framework for dealing with these disorders. This book is not intended to be an in-depth, comprehensive review of all neurogenetic conditions from 'A to Z'. Instead, we will provide a concise discussion using case studies to illustrate the most important and topical neurogenetic disorders. This case-based approach will make the book easy to reference, clinically relevant, approachable, and, we feel, more interesting. Scope The contribution of genetics to many neurological diseases is becoming increasingly apparent, and so it is imperative to stay up-to-date with these conditions. The 31 chapters in this volume cover a wide range of inherited conditions including forms of dystonia, Parkinson disease, spastic paraplegias, mitochondrial diseases, myopathies, neuropathies, and much more. Particular attention is paid to practical issues regarding how to make a genetic diagnosis and how to counsel the family. We will also address some contemporary issues in neurogenetics, such as the impact of direct-to-consumer genetic testing. General Approach In keeping with the WDIDN series, each chapter commences with a brief case study, which will be used as an example of an important condition in neurogenetics. The discussion will then be centered on the case, with a focus on crucial issues regarding the clinical assessment, investigations and management of these conditions. Key clinical points will be listed at the end of the chapter, along with a list of suggested further reading. All case studies in this book are based on real patients seen by the authors or their colleagues.