Download or read book The Molecular Genetics of Copper Transport in Wilson Disease written by Anjali B. Shah and published by . This book was released on 1999 with total page 328 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Download or read book Copper Transport and Its Disorders written by Arturo Leone and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 276 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book is a compilation of presentations at the first meeting devoted to the mo lecular and cellular biology of copper transport. When we first considered the possible program for the meeting, we felt that a forum to integrate the recent advances in molecular understanding of copper transport with the older knowledge of copper metabolism was needed. In addition we wished to have a strong emphasis on the diseases of copper includ ing the genetic diseases, Menkes and Wilson, and other possible health aspects of this met al seen from a molecular perspective. Overall we were very happy with the success of the meeting, and most participants were very enthusiastic. Unfortunately we were not able to obtain manuscripts from every contributor, but the selection in this book covers most of the topics discussed. The history of biological research into copper dates from the latter half of the last century when the presence of copper as a component of living systems was first noted, but it was not until the 1920s that the essential role of copper was first recognized. l. S. McHargue found that plants and animals needed copper for optimal growth and health and proposed that copper was needed for life (McHargue, 1925). Other groups soon confirmed these observations in plants. In animals the requirement of copper for hematopoiesis was discovered in 1928 (Hart et aI.

Download or read book The Molecular Genetics of Copper Transport in Wilson Desease written by Anjali B. Shah and published by . This book was released on 1999 with total page 328 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Download or read book Copper in Drinking Water written by National Research Council and published by National Academies Press. This book was released on 2000-04-12 with total page 161 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Download or read book Liver Pathophysiology written by Pablo Muriel and published by Academic Press. This book was released on 2017-03-02 with total page 917 pages. Available in PDF, EPUB and Kindle. Book excerpt: Liver Pathophysiology: Therapies and Antioxidants is a complete volume on morphology, physiology, biochemistry, molecular biology and treatment of liver diseases. It uses an integral approach towards the role of free radicals in the pathogenesis of hepatic injury, and how their deleterious effects may be abrogated by the use of antioxidants. Written by the most prominent authors in the field, this book will be of use to basic and clinical scientists and clinicians working in the biological sciences, especially those dedicated to the study and treatment of liver pathologies. Presents the most recent advances in hepatology, with a special focus on the role of oxidative stress in liver injury. Provides in vivo and in vitro models to study human liver pathology. Explains the beneficial effects of antioxidants on liver diseases. Contains the most recent and modern treatments of hepatic pathologies, including, but not limited to, stem cells repopulation, gene therapy and liver transplantation.

Download or read book Trace Elements and Minerals in Health and Longevity written by Marco Malavolta and published by Springer. This book was released on 2018-11-13 with total page 328 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book describes the role of trace elements in health and longevity, pursuing a biogerontological approach. It offers essential information on the impact of trace elements on molecular and physiological processes of aging, and on their impact on health in connection with aging. The major topics covered in its 11 chapters, each dedicated to a specific trace element or mineral, are: a) Role of the element in species longevity, b) Recommended intake for longevity in animal species and in the elderly, c) Deficiency and age-related disease, d) Excess/toxicity and age-related disease, and e) Interactions with drugs prescribed in the elderly. Clinical, animal and other laboratory models of interest in aging are included, which enable a more in-depth analysis to be made. The respective chapters are a mixture of overviews and more in-depth reviews in which the mechanisms of aging are described from the point of view of their specific interactions with trace elements and minerals.

Download or read book Liver Disease in Children written by Frederick J. Suchy and published by Cambridge University Press. This book was released on 2021-03-18 with total page 875 pages. Available in PDF, EPUB and Kindle. Book excerpt: Liver disease in children is increasing in prevalence, placing a huge burden on healthcare systems and often requiring long-term management. Offering an integrative approach to the science and clinical practice of pediatric hepatology, this is the definitive reference text for improved diagnosis and treatment strategies. In the new edition of this authoritative text, chapters have been thoroughly revised in line with major advances in the field, such as recognizing the increased frequency of fatty liver disease, and how genetic testing has the potential to establish earlier diagnoses for a variety of diseases. Disorders covered include cholestasis, metabolic disorders and hepatitis, with their presentation across the spectrum of infancy, childhood and adolescence discussed. The indications and surgical aspects of liver transplant are explained and post-transplant care is described in detail. This is a valuable resource for pediatricians, hepatologists, gastroenterologists and all clinicians involved in the care of children with liver diseases.

Download or read book A Molecular Analysis of Copper Transport in a Murine Model of Wilson Disease written by Michael B. Theophilos and published by . This book was released on 1999 with total page 280 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Download or read book Wilson Disease written by Anna Czlonkowska and published by Elsevier. This book was released on 2017-04-18 with total page 264 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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

Download or read book Neuroacanthocytosis Syndromes written by Adrian Danek and published by Springer Science & Business Media. This book was released on 2006-07-09 with total page 285 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Download or read book Clinical and Translational Perspectives on Wilson Disease written by Nanda Kerkar and published by Academic Press. This book was released on 2018-10-15 with total page 320 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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

Download or read book Oxford Handbook of Clinical Pathology written by James Carton and published by Oxford University Press. This book was released on 2017-08-31 with total page 422 pages. Available in PDF, EPUB and Kindle. Book excerpt: Now in its second edition, the Oxford Handbook of Clinical Pathology is the concise and rapidly accessible guide to general pathologic principles, and the pathology behind common and important conditions across all the major medical and surgical specialties. Fully updated and now including a brand new chapter on head and neck pathology, this book continues to be the definitive resource for medical students and doctors with an interest in this important specialty. Authored by leading experts, The Oxford Handbook of Clinical Pathology uses the best-selling Oxford Handbook format to cover macroscopic and microscopic features alongside immunohistochemical and molecular pathology in a succinct and practical style. This edition is fully illustrated and now includes over new 50 full colour images and staging information for major malignancies to aid the reader and to explain the pathology of common conditions. This handbook continues to be an indispensable resource in the field for medical students, trainees, and biomedical scientists.

Download or read book Practical Gastroenterology and Hepatology Board Review Toolkit written by Kenneth R. DeVault and published by John Wiley & Sons. This book was released on 2016-07-14 with total page 680 pages. Available in PDF, EPUB and Kindle. Book excerpt: Packed with Board-focused hints, case studies and an onlineBoard-standard MCQ test offering CME credits, this fantastic bookcovers every gastroenterology disease and symptom you’relikely to encounter and is the perfect tool to prepare for Boardexams and certification.

Download or read book Biochemistry of Copper written by Maria C. Linder and published by Springer Science & Business Media. This book was released on 2013-11-21 with total page 534 pages. Available in PDF, EPUB and Kindle. Book excerpt: Copper has long been known as essential to living systems, in part through its fundamental role in electron transport and respiration. Over the years into the present, its involvement in an ever increasing number of processes in all kinds of organisms has become apparent, and new and exciting vistas of its roles in such areas as the central nervous system, and in humoral functions, are appearing on the horizon. Although the biochemistry of this element has not been studied nearly as much as that of many others, a for midable amount of work has been carried out. It has thus been a challenge to produce a summary of what has been found that provides both breadth and depth. My goal has been to try to be as comprehensive as possible, within some limitations. I have tried to provide basic information and basic data that should continue to be useful for a long time. The goal has also been to interpret where we currently stand in our knowledge of the structure, function, regulation, and metabolism of Cu-dependent processes and sub stances, especially proteins. Thus, I have tried to make this a source book for historic as well as current information on all aspects of copper bio chemistry, and a summary of our current knowledge of copper-dependent proteins and processes. Most of the research on copper has been carried out on vertebrates, especially mammals. This has played a role in the organization of the book.

Download or read book Metabolic Diseases written by E. Gilbert-Barness and published by IOS Press. This book was released on 2017-01-06 with total page 960 pages. Available in PDF, EPUB and Kindle. Book excerpt: The 2nd Edition of Metabolic Diseases provides readers with a completely updated description of the Foundations of Clinical Management, Genetics, and Pathology. A distinguished group of 31 expert authors has contributed 25 chapters as a tribute to Enid Gilbert-Barness and the late Lewis Barness--- both pioneers in this topic. Enid’s unique perspectives on the pathology of genetic disorders and Lew’s unsurpassed knowledge of metabolism integrated with nutrition have inspired the contributors to write interdisciplinary descriptions of generally rare, and always challenging, hereditary metabolic disorders. Discussions of these interesting genetic disorders are organized in the perspective of molecular abnormalities leading to morphologic disturbances with distinct pathology and clinical manifestations. The book emphasizes recent advances such as development of improved diagnostic methods and discovery of new, more effective therapies for many of the diseases. It includes optimal strategies for diagnosis and information on access to specialized laboratories for specific testing. The target audience is a wide variety of clinicians, including pediatricians, neonatologists, obstetricians, maternal-fetal specialists, internists, pathologists, geneticists, and laboratorians engaged in prenatal and/or neonatal screening. In addition, all scientists and health science professionals interested in metabolic diseases will find the comprehensive, integrated chapters informative on the latest discoveries. It is our hope that the 2nd Edition will open new avenues and vistas for our readers and that they will share with us the interest, excitement and passion of the research into all these challenging disorders.

Download or read book The Liver written by Irwin M. Arias and published by John Wiley & Sons. This book was released on 2020-03-09 with total page 1156 pages. Available in PDF, EPUB and Kindle. Book excerpt: Bridging the gap between basic scientific advances and the understanding of liver disease — the extensively revised new edition of the premier text in the field. The latest edition of The Liver: Biology and Pathobiology remains a definitive volume in the field of hepatology, relating advances in biomedical sciences and engineering to understanding of liver structure, function, and disease pathology and treatment. Contributions from leading researchers examine the cell biology of the liver, the pathobiology of liver disease, the liver’s growth, regeneration, metabolic functions, and more. Now in its sixth edition, this classic text has been exhaustively revised to reflect new discoveries in biology and their influence on diagnosing, managing, and preventing liver disease. Seventy new chapters — including substantial original sections on liver cancer and groundbreaking advances that will have significant impact on hepatology — provide comprehensive, fully up-to-date coverage of both the current state and future direction of hepatology. Topics include liver RNA structure and function, gene editing, single-cell and single-molecule genomic analyses, the molecular biology of hepatitis, drug interactions and engineered drug design, and liver disease mechanisms and therapies. Edited by globally-recognized experts in the field, this authoritative volume: Relates molecular physiology to understanding disease pathology and treatment Links the science and pathology of the liver to practical clinical applications Features 16 new “Horizons” chapters that explore new and emerging science and technology Includes plentiful full-color illustrations and figures The Liver: Biology and Pathobiology, Sixth Edition is an indispensable resource for practicing and trainee hepatologists, gastroenterologists, hepatobiliary and liver transplant surgeons, and researchers and scientists in areas including hepatology, cell and molecular biology, virology, and drug metabolism.

Download or read book Rosenberg s Molecular and Genetic Basis of Neurological and Psychiatric Disease written by Roger N. Rosenberg and published by Elsevier. This book was released on 2014-10-28 with total page 1465 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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