Neurogenetic Diagnoses
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Author | : Thomas T. Warner |
Publisher | : Elsevier Health Sciences |
Total Pages | : 343 |
Release | : 2008-11-04 |
Genre | : Medical |
ISBN | : 0702038458 |
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.
Author | : Nicholas Wood |
Publisher | : Cambridge University Press |
Total Pages | : 251 |
Release | : 2012-04-12 |
Genre | : Medical |
ISBN | : 052154372X |
A coherent, up-to-date overview of the rapidly advancing field of neurogenetics for neurologists of any level.
Author | : Carole H. Browner |
Publisher | : Routledge |
Total Pages | : 152 |
Release | : 2009-12-18 |
Genre | : Medical |
ISBN | : 1135179085 |
Amid intense debate over the consequences of decoding the human genome and the impact of such technology on our lives, these lucid, richly-textured, jargon-free case studies explore the diverse meanings and impacts of genetic diagnoses for patients enduring currently incurable, ultimately fatal neurodegenerative diseases -- and for their family caregivers and clinicians.
Author | : Muntaser E. Ibrahim |
Publisher | : Cambridge University Press |
Total Pages | : 351 |
Release | : 2019-12-19 |
Genre | : History |
ISBN | : 1107072026 |
A pioneering work that focuses on the unique diversity of African genetics, offering insights into human biology and genetic approaches.
Author | : Adrian Danek |
Publisher | : Springer Science & Business Media |
Total Pages | : 310 |
Release | : 2004-11-19 |
Genre | : Medical |
ISBN | : 9781402028977 |
Neuroacanthocytosis Syndromes is the first comprehensive review of a field that has not yet received the attention it deserves. Affecting the brain as well as the circulating red cells, these multi-system disorders in the past had often been mistaken for Huntington's disease. Recent breakthroughs have now identified the molecular basis of several of these. This volume grew out of the first international scientific meeting ever devoted to neuroacanthocytosis and provides in-depth information about the state of the art. Its thirty chapters were written by the leading authorities in the field to cover the clinical as well as the basic science perspective, including not only molecular genetics but also experimental pharmacology and cell membrane biology, among others. The book vehemently poses the question of how the membrane deformation of circulating red blood cells relates to degeneration of nerve cells in the brain, the basal ganglia, in particular. It provides a wealth of data that will help to solve an intriguing puzzle and ease the suffering of those affected by one of the neuroacanthocytosis syndromes.
Author | : Roongroj Bhidayasiri |
Publisher | : John Wiley & Sons |
Total Pages | : 560 |
Release | : 2008-04-15 |
Genre | : Medical |
ISBN | : 1405172843 |
Neurology is primarily characterized by a variety of diseases which seem very similar and are therefore difficult to distinguish between. Skill at differential diagnosis is therefore absolutely paramount. Neurological Differential Diagnosis is a streamlined handbook of prioritized differential diagnosis, to be used both in clinical practice and for exam review. By presenting differential diagnosis in order of frequency and importance, this book provides a practical handbook for clinicians in training, as well as a potential resource for quick board review. Whilst the book covers the most important syndromes and disease entities, readers are referred to other texts for more exhaustive differentials. By limiting differentials in this way - to the most likely and most serious diagnoses - the reader can more easily recall relevant disease processes when faced with a particular clinical situation, whether it be a patient in the emergency room or a difficult question on the board examination. The book specifically targets neurology residents and fellows, with overlap to neurosurgery and psychiatry. Internal medicine physicians with an interest in neurological problems and medical students looking for an edge in clinical neuroscience would also benefit from this text. The content is primarily mid-level material, in a pedagogic format. In order to organize the students' thought processes concise tables and line drawing templates are included. The book is organized into broad chapters by type of disorder and some overlap occurs between particular chapters.
Author | : Roger N. Rosenberg |
Publisher | : Elsevier |
Total Pages | : 1465 |
Release | : 2014-10-28 |
Genre | : Science |
ISBN | : 0124105491 |
Rosenberg’s Molecular and Genetic Basis of Neurologic and Psychiatric Disease, Fifth Edition provides a comprehensive introduction and reference to the foundations and key practical aspects relevant to the majority of neurologic and psychiatric disease. A favorite of over three generations of students, clinicians and scholars, this new edition retains and expands the informative, concise and critical tone of the first edition. This is an essential reference for general medical practitioners, neurologists, psychiatrists, geneticists, and related professionals, and for the neuroscience and neurology research community. The content covers all aspects essential to the practice of neurogenetics to inform clinical diagnosis, treatment and genetic counseling. Every chapter has been thoroughly revised or newly commissioned to reflect the latest scientific and medical advances by an international team of leading scientists and clinicians. The contents have been expanded to include disorders for which a genetic basis has been recently identified, together with abundant original illustrations that convey and clarify the key points of the text in an attractive, didactic format. Previous editions have established this book as the leading tutorial reference on neurogenetics. Researchers will find great value in the coverage of genomics, animal models and diagnostic methods along with a better understanding of the clinical implications. Clinicians will rely on the coverage of the basic science of neurogenetics and the methods for evaluating patients with biochemical abnormalities or gene mutations, including links to genetic testing for specific diseases. Comprehensive coverage of the neurogenetic foundation of neurological and psychiatric disease Detailed introduction to both clinical and basic research implications of molecular and genetic understanding of the brain Detailed coverage of genomics, animal models and diagnostic methods with new coverage of evaluating patients with biochemical abnormalities or gene mutations
Author | : World Health Organization |
Publisher | : World Health Organization |
Total Pages | : 233 |
Release | : 2006 |
Genre | : Medical |
ISBN | : 9241563362 |
Although there are several gaps in understanding the many issues related to neurological disorders, we know enough to be able to shape effective policy responses to some of the most common. This book describes and discusses the increasing public health impact of common neurological disorders such as dementia, epilepsy, headache disorders, multiple sclerosis, neuroinfections, neurological disorders associated with malnutrition, pain associated with neurological disorders, Parkinson's disease, stroke and traumatic brain injuries. It provides information and advice on public health interventions that may reduce their occurrence and consequences, and offers health professionals and planners the opportunity to assess the burden caused by these disorders. The clear message that emerges is that unless immediate action is taken globally, the neurological burden is likely to become an increasingly serious and unmanageable.
Author | : Gabor G. Kovacs |
Publisher | : Cambridge University Press |
Total Pages | : 320 |
Release | : 2017-12-13 |
Genre | : Medical |
ISBN | : 1316337650 |
This practical guide to the diagnosis of neurodegenerative diseases discusses modern molecular techniques, morphological classification, fundamentals of clinical symptomology, diagnostic pitfalls and immunostaining protocols. It is based on the proteinopathy concept of neurodegenerative disease, which has influenced classification and provides new strategies for therapy. Numerous high-quality images, including histopathology photomicrographs and neuroradiology scans, accompany the description of morphologic alterations and interpretation of immunoreactivities. Diagnostic methods and criteria are placed within recent developments in neuropathology, including the now widespread application of immunohistochemistry. To aid daily practice, the guide includes diagnostic algorithms and offers personal insights from experienced experts in the field. Special focus is given to the way brain tissue should be handled during diagnosis. This is a must-have reference for medical specialists and specialist medical trainees in the fields of pathology, neuropathology and neurology working with neuropathologic features of neurodegenerative diseases.
Author | : |
Publisher | : Academic Press |
Total Pages | : 339 |
Release | : 2011-07-21 |
Genre | : Medical |
ISBN | : 0080922694 |
This special issue is among the first volumes to examine the topic of early development in children with neurogenetic disorders associated with intellectual disability. It includes discussions of theoretical issues regarding the emergence of behavioural profiles during early development, as well as comprehensive accounts of early development in specific disorders such as Down syndrome, fragile X syndrome, Williams syndrome, and sex chromosome disorders. In addition, several contributions examine the latest clinical applications of this work for diagnosis, treatment, and education. - The comprehensive nature of the reviews of early development in neurogenetic disorders provided by top researchers in the field of developmental disabilities research - Innovation in the application of new approaches to this population, such dynamic systems theory and the developmental trajectory approach to studying these populations place this volume on the cutting edge of theoretical work in this area - This volume also addresses the implications of emerging behavioural phenotypes in neurogenetic disorders from many angles—the biological issues related to diagnosis, psychiatric issues related to comorbid conditions such as autism and autism spectrum disorder, and educational issues related to targeted intervention