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Author: George J. Brewer
Publisher: Springer Science & Business Media
ISBN: 1461516455
Category : Medical
Languages : en
Pages : 222
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Book Description
Movement disorder specialists, general neurologists, hepatologists, general gastroenterologists, and psychiatrists are the specialists who will most likely see some Wilson's disease patients during their careers. See them - yes. Recognize and diagnose them - maybe. If you are in one of these specialties, and a patient with tremor, hepatitis, cirrhosis, apparent Parkinsonism, or mood disorder, is referred to you, will you appropriately recognize the possibility that the underlying diagnosis may be Wilson's disease? Wilson's disease is both treatable and reversible, and commonly misdiagnosed. This book aims to change this with comprehensive coverage of every aspect of Wilson's disease, from well-catalogued, easy-to-use clinical diagnostic tools to treatment methods to molecular biology. Dr. Brewer is the world's leading expert on Wilson's disease, seeing and caring for over 300 patients with the disease during the last 20 years. He is a professor of human genetics at the University of Michigan.
Author: George J. Brewer
Publisher: Springer Science & Business Media
ISBN: 1461516455
Category : Medical
Languages : en
Pages : 222
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Book Description
Movement disorder specialists, general neurologists, hepatologists, general gastroenterologists, and psychiatrists are the specialists who will most likely see some Wilson's disease patients during their careers. See them - yes. Recognize and diagnose them - maybe. If you are in one of these specialties, and a patient with tremor, hepatitis, cirrhosis, apparent Parkinsonism, or mood disorder, is referred to you, will you appropriately recognize the possibility that the underlying diagnosis may be Wilson's disease? Wilson's disease is both treatable and reversible, and commonly misdiagnosed. This book aims to change this with comprehensive coverage of every aspect of Wilson's disease, from well-catalogued, easy-to-use clinical diagnostic tools to treatment methods to molecular biology. Dr. Brewer is the world's leading expert on Wilson's disease, seeing and caring for over 300 patients with the disease during the last 20 years. He is a professor of human genetics at the University of Michigan.
Author: Nanda Kerkar
Publisher: Academic Press
ISBN: 9780128105320
Category :
Languages : en
Pages : 320
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Book Description
The Handbook of Wilson Disease: A Worldwide Perspective and Translational Approach brings together the genetics & cell and structural biology of Wilson Disease into one contemporary, easy to navigate handbook. Aimed to meet the needs of the diverse clinical and research communities of Wilson Disease, this reference provides a worldwide approach that is concise and translational. Specifically, it provides a basis for clinicians to appreciate 'basic science' aspects of Wilson disease and similarly a basis for researchers to understand the clinical disorder on which their research is focused, fostering constructive dialogue and progress for this puzzling disorder. Offers a contemporary worldwide perspective with contributions from international experts in the field Delivers numerous succinct expert chapters with summaries designed for quick reference Includes a "How-to" appendix for diagnosis and management tips Contains access to a companion website with a self-help teaching module, links to key resources, and an extended reference list
Author: George J. Brewer
Publisher: Xlibris Corporation
ISBN: 146283888X
Category : Medical
Languages : en
Pages : 154
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Book Description
Wilsons Disease for the Patient and Family: A Patients Guide to Wilsons disease and Frequently asked Questions about Copper, is an essential reference book for patients with Wilsons disease and their families. In easy-to-understand language, Dr. Brewer, a world authority on Wilsons disease and copper, explains everything about Wilsons disease, from its genetic cause and mechanism of transmission, to effective treatment plans. A comprehensive glossary provides readers with definitions and explanations for many of the scientific words and phrases used in the text. Major reasons why this book is important to patients relate to the rarity of the disease, variation in its manner of presentation, and the likelihood that doctors consulted about the medical problems will know very little about Wilsons disease. Most doctors, even specialists in liver disease or neurology, will see at most one or two cases during their entire medical careers. If patients hope for rapid and early diagnosis, and that is important to preserve as much function as possible, they may need to help the doctor think of the disease in the first place, and help in sorting out what constitutes proper diagnosis. And then, if there is a diagnosis, comes treatment. The days are gone when one drug, penicillamine (the only anticopper drug most doctors have heard of), is prescribed as soon as the diagnosis is made. Now we have different therapies for different stages. In fact, we no longer recommend penicillamine for Wilsons disease at all. This book will guide the patient and family through all of these various aspects of Wilsons disease. Dr. Brewer begins by describing Wilsons disease, what causes it, how it is inherited, and what symptoms people with Wilsons disease exhibit. It is an inherited disorder of copper accumulation and toxicity, affecting one in 40,000 people worldwide. After basic coverage of Wilsons disease, Dr. Brewer devotes an entire chapter to answering some of the most commonly asked questions about copper. Many of these questions are unrelated to Wilsons disease, but are questions frequently asked by other types of patients as they are informed that there is something wrong with their copper. After that, Dr. Brewer explores the symptoms which should trigger the suspicion of Wilsons disease, and what screening tests can be done to explore this possibility. He then covers testing which will give a definitive diagnosis, what the results of different tests mean, and some of the possible problems with various tests which might be performed. Once a reliable diagnosis of Wilsons disease is made, anticopper therapy is essential to the survival of Wilsons disease patients. Dr. Brewer explains what drugs are available for treatment of Wilsons disease, and offers a comparison of their benefits and side effects. He elaborates on variations in treatment, first discussing the initial stage of treatment, and then long-term maintenance therapy. Included in the discussion are tips for treatment of children and pregnant women. The risks and long-term outlook for a person diagnosed with Wilsons disease are discussed in some detail. After these information-packed chapters, Dr. Brewer devotes a chapter to answering some frequently asked questions about Wilsons disease, and presents resources available to Wilsons disease patients and their families. The book concludes as Dr. Brewer examines the current shortcomings in Wilsons disease therapy, and points to areas which might be improved upon in the future.
Author: Néstor Gálvez-Jiménez
Publisher: Cambridge University Press
ISBN: 1139495755
Category : Medical
Languages : en
Pages : 351
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Book Description
A large number of neurological conditions result in abnormal movements of the body; these are often characterized by changes in coordination and altered speed of voluntary movement. Many obscure diseases, conditions and environmental insults can cause movement disorders but these are often overlooked. This volume expands and differentiates the many varied clinical presentations of movement disorders. Written by an international team of authors, including some of the most prominent clinicians in the field, disorders are defined and expanded in a clinically useful manner. Pathophysiological theories, genetic discoveries, new classifications, differential diagnoses and therapies are discussed extensively. Uncommon Causes of Movement Disorders provides a broad and comprehensive review of the field, concentrating on conditions infrequently seen but essential for practitioners to recognize in order to implement appropriate management. This is a key text for movement disorders specialists and general neurologists at all stages of their career.
Author: Anna Czlonkowska
Publisher: Elsevier
ISBN: 0444636277
Category : Medical
Languages : en
Pages : 264
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Book Description
Wilson Disease provides a comprehensive guide on this inherited genetic disorder that has devastating consequences for both the liver and neurologic/psychiatric health. This disease is of increasing interest to neurologists, hepatologists, and geneticists, but when the disease is diagnosed early, it is treatable, with patients living normal lives. This volume describes the molecular pathophysiology of WD and the clinical and pathological effects of copper. Separate sections address both diagnosis and medical and surgical approaches to treatment. Both adult and pediatric perspectives on diagnosis and treatment are addressed, and a section on genetics highlights advances in molecular diagnostics. Patient support groups that can aid in coping with this disease are also discussed, as are animal models for those interested in basic research on cell biology, pathophysiology, and treatment. Addresses the molecular pathophysiology of WD and the clinical and pathological effects of copper Offers coverage of both diagnosis and medical and surgical approaches to treatment Includes perspectives on both adult and pediatric diagnosis and treatment Edited work with chapters authored by leaders in the field from around the globe—the broadest, most expert coverage available
Author: Karl Heinz Weiss, MD
Publisher: Academic Press
ISBN: 0128110775
Category : Medical
Languages : en
Pages : 264
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Book Description
Wilson Disease: Pathogenesis, Molecular Mechanisms, Diagnosis, Treatment and Monitoring translates both clinical and experimental findings into a comprehensive approach for anyone involved in research and patient care. While the clinical variability of Wilson Disease poses a challenge from a diagnostic approach, the book uses the translational impact of new research findings to relate to new treatment concepts. Comprehensive chapters include common knowledge, guideline consensus statements, and discussions of clinical evidence. This is a must-have reference for researchers and clinicians in translational research. Delivers a substantial overview of evidence driven diagnostic pathways and treatment concepts for Wilson disease Provides an understanding of the translational impact of new research findings in Wilson Disease Reveals the current controversies in treatment decisions for Wilson disease, providing the best decisions for optimal patient care
Author: Adrian Danek
Publisher: Springer Science & Business Media
ISBN: 1402028989
Category : Medical
Languages : en
Pages : 285
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Book Description
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: National Research Council
Publisher: National Academies Press
ISBN: 0309172209
Category : Nature
Languages : en
Pages : 161
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Book Description
The safety of the nation's drinking water must be maintained to ensure the health of the public. The U.S. Environmental Protection Agency (EPA) is responsible for regulating the levels of substances in the drinking water supply. Copper can leach into drinking water from the pipes in the distribution system, and the allowable levels are regulated by the EPA. The regulation of copper, however, is complicated by the fact that it is both necessary to the normal functioning of the body and toxic to the body at too high a level. The National Research Council was requested to form a committee to review the scientific validity of the EPA's maximum contaminant level goal for copper in drinking water. Copper in Drinking Water outlines the findings of the committee's review. The book provides a review of the toxicity of copper as well as a discussion of the essential nature of this metal. The risks posed by both short-term and long-term exposure to copper are characterized, and the implications for public health are discussed. This book is a valuable reference for individuals involved in the regulation of water supplies and individuals interested in issues surrounding this metal.
Author: Michael L. Schilsky
Publisher: Springer
ISBN: 3319915274
Category : Medical
Languages : en
Pages : 250
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Book Description
This pocket guide provides a concise yet comprehensive overview of the pathogenesis, treatment, and management of Wilson disease. Drawing upon expertise from the Center of Excellence at Yale University in liver disease, neurology, and psychiatry for adult and pediatric patients, as well as dieticians, clinical trial coordinators, representatives from the Wilson Disease Association and outside experts from the US and UK as well, this guide provides a balanced and easy to digest approach to understanding treatment and care for Wilson disease patients. The text reviews different treatment options and other care needed to address clinical symptoms, as well as the testing needed for monitoring efficacy and adherence. Furthermore, the volume discusses these issues in the context of a best care model, which is an integrative care model where patients and their caregivers partner with Centers of Excellence with expertise in this rare disorder, to achieve best long-term outcomes. Written by experts in the field, Management of Wilson Disease: A Pocket Guide is a valuable resource for clinicians and primary care physicians who treat patients with Wilson disease.
Author: Roger Steinert
Publisher: CRC Press
ISBN: 1040135544
Category : Medical
Languages : en
Pages : 350
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Book Description
High-speed anterior segment optical coherence tomography (OCT) offers a non-contact method for high resolution cross-sectional and three-dimensional imaging of the cornea and the anterior segment of the eye. As the first text completely devoted to this topic, Anterior Segment Optical Coherence Tomography comprehensively explains both the scientific principles and the clinical applications of this exciting and advancing technology. Anterior Segment Optical Coherence Tomography enhances surgical planning and postoperative care for a variety of anterior segment applications by expertly explaining how abnormalities in the anterior chamber angle, cornea, iris, and lens can be identified and evaluated using the Visante OCTTM. Inside Anterior Segment Optical Coherence Tomography, Dr. Roger Steinert and Dr. David Huang, along with 22 of the field's leading professionals, provide a wealth of useful clinical and physiological material about this new diagnostic imaging technique. Valuable images are included to assist in the pre- and postoperative assessment of various anterior segment disorders. Additionally, this unique resource contains detailed information on biometric measurements to enhance diagnostic capability. On the leading edge of anterior segment imaging: Mapping of corneal thickness and keratoconus evaluation Measurement of LASIK flap and stromal bed thickness Visualization and measurement of anterior chamber angle and diagnosis of narrow angle glaucoma Measuring the dimensions of the anterior chamber and assessing the fit of intraocular lens implants Visualizing and measuring the results of corneal implants and lamellar procedures Imaging through corneal opacity to see internal eye structures With the increase in popularity of anterior chamber imaging, and anterior segment OCT proving to be the best tool for high resolution biometry, Anterior Segment Optical Coherence Tomography is a must-have for anterior segment, refractive, cornea, and glaucoma surgeons.
