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Rare diseases and orphan drugs : keys to understanding and treating the common diseases /
Rare Diseases and Orphan Drugs shows that much of what we now know about common diseases has been achieved by studying rare diseases. It proposes that future advances in the prevention, diagnosis, and treatment of common diseases will come as a consequence of our accelerating progress in the field o...
| Clasificación: | Libro Electrónico |
|---|---|
| Autor principal: | |
| Formato: | Electrónico eBook |
| Idioma: | Inglés |
| Publicado: |
London, UK :
Academic Press,
2014.
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| Temas: | |
| Acceso en línea: | Texto completo |
MARC
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| 100 | 1 | |a Berman, Jules J., |e author. | |
| 245 | 1 | 0 | |a Rare diseases and orphan drugs : |b keys to understanding and treating the common diseases / |c Jules J. Berman, Ph. D., M.D. |
| 264 | 1 | |a London, UK : |b Academic Press, |c 2014. | |
| 300 | |a 1 online resource (xix, 380 pages) : |b illustrations | ||
| 336 | |a text |b txt |2 rdacontent | ||
| 337 | |a computer |b c |2 rdamedia | ||
| 338 | |a online resource |b cr |2 rdacarrier | ||
| 520 | |a Rare Diseases and Orphan Drugs shows that much of what we now know about common diseases has been achieved by studying rare diseases. It proposes that future advances in the prevention, diagnosis, and treatment of common diseases will come as a consequence of our accelerating progress in the field of rare diseases. Understanding the complex steps in the development of common diseases, such as cancer, cardiovascular disease, and metabolic diseases, has proven a difficult problem. Rare diseases, however, are often caused by aberrations of a single gene. In rare diseases, we may study how specific genetic defects can trigger a series of events that lead to the expression of a particular disease. Often, the disease process manifested in a certain rare disease is strikingly similar to the disease process observed in a common disease. This work ties the lessons learned about rare diseases to our understanding of common ones. Chapters covering the number of common diseases are minimized, while rare diseases are introduced as single diseases or as members of diseases classes. After reading this book, readers will appreciate how further research into the rare diseases may lead to new methods for preventing, diagnosing, and treating all diseases, rare or common. | ||
| 500 | |a Includes index. | ||
| 588 | 0 | |a Print version record. | |
| 505 | 0 | |a Half Title; Title Page; Copyright; Dedication; Contents; Acknowledgments; Foreword; Preface; Part I: Understanding the Problem; 1 What are the Rare Diseases, and Why do we Care?; 1.1 The definition of rare disease; 1.2 Remarkable progress in the rare diseases; References; 2 What are the Common Diseases?; 2.1 The common diseases of humans, a short but terrifying list; 2.2 The recent decline in progress against common diseases; 2.3 Why medical scientists have failed to eradicate the common diseases; References; 3 Six Observations to Ponder while Reading this Book. | |
| 505 | 8 | |a 3.1 Rare diseases are biologically different from common diseases3.1.1 Six observations that distinguish common diseases from rare diseases; 3.2 Common diseases typically occur in adults; rare diseases are often diseases of childhood; 3.3 Rare diseases usually occur with a Mendelian pattern of inheritance. common diseases are non-Mendelian; 3.4 Rare diseases often occur as syndromes, involving several organs or physiologic systems, often in surprising ways. common diseases are typically non-syndromic (see Section 10.1) | |
| 505 | 8 | |a 3.5 Environmental factors play a major role in the cause of common diseases less so in the inherited rare diseases; 3.6 The difference in rates of occurrence of the rare diseases compared with the common diseases is profound, often on the order of a thousand-fold; 3.7 There are many more rare diseases than there are common diseases; References; Part II: Rare Lessons for Common Diseases; 4 Aging; 4.1 Normal patterns of aging; 4.2 Aging and immortality; 4.3 Premature aging disorders; 4.4 Aging as a disease of non-renewable cells; References; 5 Diseases of the Heart and Vessels. | |
| 505 | 8 | |a 5.1 Heart attacks5.2 Rare desmosome-based cardiomyopathies; 5.3 Sudden death and rare diseases hidden in unexplained clinical events; 5.4 Hypertension and obesity: quantitative traits with cardiovascular co-morbidities; References; 6 Infectious Diseases and Immune Deficiencies; 6.1 The burden of infectious diseases in humans; 6.1.1 Infections occurring in the majority of humans (i.e., 3.5 to 7 billion cases); 6.1.2 Infections occurring in 1 to 3.5 billion humans; 6.1.3 Infections involving 500 million to 1 billion humans; 6.1.4 Infections involving 100 million to 500 million humans. | |
| 505 | 8 | |a 6.1.5 Infections involving 10 million to 100 million humans6.2 Biological taxonomy: where rare infectious diseases mingle with the common infectious diseases; 6.3 Biological properties of the rare infectious diseases; 6.4 Rare diseases of unknown etiology; 6.5 Fungi as a model infectious organism causing rare diseases; References; 7 Diseases of Immunity; 7.1 Immune status and the clinical expression of infectious diseases; 7.2 Autoimmune disorders; References; 8 Cancer; 8.1 Rare cancers are fundamentally different from common cancers. | |
| 650 | 0 | |a Rare diseases. | |
| 650 | 0 | |a Orphan drugs. | |
| 650 | 2 | |a Orphan Drug Production |0 (DNLM)D009965 | |
| 650 | 6 | |a Maladies rares. |0 (CaQQLa)201-0209302 | |
| 650 | 6 | |a M�edicaments orphelins. |0 (CaQQLa)201-0262527 | |
| 650 | 7 | |a HEALTH & FITNESS |x Diseases |x General. |2 bisacsh | |
| 650 | 7 | |a MEDICAL |x Clinical Medicine. |2 bisacsh | |
| 650 | 7 | |a MEDICAL |x Diseases. |2 bisacsh | |
| 650 | 7 | |a MEDICAL |x Evidence-Based Medicine. |2 bisacsh | |
| 650 | 7 | |a MEDICAL |x Internal Medicine. |2 bisacsh | |
| 650 | 7 | |a Orphan drugs |2 fast |0 (OCoLC)fst01048416 | |
| 650 | 7 | |a Rare diseases |2 fast |0 (OCoLC)fst01090123 | |
| 776 | 0 | 8 | |i Print version: |a Berman, Jules J. |t Rare diseases and orphan drugs |z 0124199887 |w (OCoLC)879582374 |
| 856 | 4 | 0 | |u https://sciencedirect.uam.elogim.com/science/book/9780124199880 |z Texto completo |