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Disorders affecting the oxidation of long-chain fatty acids are complex, potentially life-threatening, metabolic conditions. A number of genetically distinct conditions exist, depending on the gene and protein affected, but there are some common clinical and biochemical features. Newborn screening, which allows early intervention to prevent long-term morbidity, is not universally available. Even with screening, it is important that health professionals recognize the symptoms that may manifest at different stages of life. This concise guide to these rare conditions will be of value to all health professionals who may encounter or care for an individual with a long-chain fatty acid oxidation disorder. As well as explaining the underlying defects, inheritance and how the conditions manifest, the book describes the diagnosis and differential diagnosis of the disorders. The final chapter gives some guidance on genetic counseling and supporting patients. Table of Contents: • Fatty acid metabolism • Epidemiology and genetics • Clinical presentation • Diagnosis • Genetic counseling, newborn screening and patient support
Physiology of nutrition. Metabolism --- Lipids --- Lipid Metabolism, Inborn Errors. --- Fatty Acids --- Metabolism --- Disorders. --- metabolism.
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This 7th edition is a milestone in the series of Inborn Metabolic Diseases (IMD), recognised as the standard textbook for professionals involved in the diagnosis and management of IMD. Within the last 5 years a Copernican revolution in our understanding of IMD has changed the definition, concepts, paradigms, and classification. This new edition now extends the concept of IMD to include those disturbances in molecular machinery diagnosed by molecular techniques but currently without measurable metabolic markers. Contents A clinical and biochemical approach to the diagnosis and management of IEM with many diagnostic algorithms for patients of all ages and with a particular focus on neurological presentations. Separate, comprehensive sections on IMD classified in 3 major pathophysiological categories: disorders of energy metabolism, both mitochondrial and non-mitochondrial; small molecule disorders, mostly diagnosed with metabolic markers; and complex molecules disorders, mostly diagnosed with molecular techniques. Two new chapters, describing around 600 disorders of nucleic acid metabolism, tRNA metabolism, ribosomal biogenesis, and cellular trafficking. The Editors Jean-Marie Saudubray, M.D., Senior Editor, is Emeritus Professor of Paediatrics, Paris. Matthias R. Baumgartner, M.D., is Professor of Paediatrics and Inherited Metabolic Diseases, University of Zurich, and Head of the Division of Metabolism and the Swiss Newborn Screening Programme at the University Children's Hospital, Zurich. Angeles García-Cazorla MD, PhD., is Professor of Paediatric Neurology and Head of the Neurometabolic Unit and Director of Research in Neurology at Hospital Sant Joan de Déu, Barcelona. John H. Walter, M.D. is Honorary Clinical Professor of Inherited Metabolic Medicine, Developmental Biology and Medicine, School of Medical Sciences, University of Manchester. .
Paediatrics --- Human genetics --- Neuropathology --- Human medicine --- medische genetica --- geneeskunde --- hersenen --- pediatrie --- Metabolism, Inborn errors of.
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These iconoclastic and witty essays are about what happens when scientists jump on band-wagons. Tony Rothman applies creative skepticism to contemporary fashions in science, including the "standard model" Big Bang theory, geodesic domes, the concept of nuclear winter, and sociological applications of the second law of thermodynamics. "Rothman proves himself an excellent communicator... I am grateful to him for he has enlarged my vision, increased my understanding, and made me more aware of the beauty of the patterns and connections of all the world."--Dick Kovan, New Scientist "These six delightful essays address and substantiate the sociological underpinnings of the scientific enterprise... I highly recommend this volume of excellent essays that remind us all of the `folly of mistaking a paradox for a discovery, a metaphor for a proof, a torrent of verbiage for a spring of capital truth, and oneself for an oracle...'"--Dennis W. Cheek, Science Books & FilmsOriginally published in 1989.The Princeton Legacy Library uses the latest print-on-demand technology to again make available previously out-of-print books from the distinguished backlist of Princeton University Press. These editions preserve the original texts of these important books while presenting them in durable paperback and hardcover editions. The goal of the Princeton Legacy Library is to vastly increase access to the rich scholarly heritage found in the thousands of books published by Princeton University Press since its founding in 1905.
Pure sciences. Natural sciences (general) --- Science --- Scientists --- Errors, Scientific. --- Philosophy. --- Psychology.
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"Familial chylomicronemia syndrome (FCS) is an ultra-rare genetic disorder characterized by the abnormal build-up of chylomicrons, the largest type of lipoprotein, which transport dietary fat from the gut to the rest of the body. Patients with FCS often experience severe symptoms, the most feared of which is acute, potentially life-threatening, pancreatitis. This resource is intended to raise awareness of FCS among all members of the healthcare team who come into contact with patients with FCS, with the aim of earlier diagnosis and management, thus preventing some of the more devastating physical, neurological and cognitive symptoms of the disorder"--
Gastroenterology --- Lipids --- Genetic disorders. --- Medical genetics. --- Hyperlipoproteinemia Type I --- Lipid Metabolism, Inborn Errors --- Chylomicrons --- Genetic Diseases, Inborn --- Genetics, Medical --- Metabolism --- Disorders. --- Hyperlipoproteinemia Type I. --- Lipid Metabolism, Inborn Errors. --- Chylomicrons. --- Genetic Diseases, Inborn. --- Genetics, Medical.
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Technology is breaking politics – what can be done about it? Artificially intelligent “bot” accounts attack politicians and public figures on social media. Conspiracy theorists publish junk news sites to promote their outlandish beliefs. Campaigners create fake dating profiles to attract young voters. We live in a world of technologies that misdirect our attention, poison our political conversations, and jeopardize our democracies. With massive amounts of social media and public polling data, and in depth interviews with political consultants, bot writers, and journalists, Philip N. Howard offers ways to take these “lie machines” apart. Lie Machines is full of riveting behind the scenes stories from the world’s biggest and most damagingly successful misinformation initiatives—including those used in Brexit and U.S. elections. Howard not only shows how these campaigns evolved from older propaganda operations but also exposes their new powers, gives us insight into their effectiveness, and shows us how to shut them down.
Political sociology --- Mass communications --- Artificial intelligence. Robotics. Simulation. Graphics --- Propaganda. --- Communication in politics --- Common fallacies --- Technological innovations. --- Political aspects. --- COMMUNICATION IN POLITICS--TECHNOLOGICAL INNOVATIONS --- COMMON FALLACIES--POLITICAL ASPECTS --- Communication in politics - Technological innovations. --- Common fallacies - Political aspects. --- Political communication --- Political science --- Blunders --- Errors, Popular --- Fallacies, Common --- Information, Misattributed --- Misattributed information --- Misconceptions, Popular --- Misinformation (Common fallacies) --- Mistakes, Popular --- Popular errors --- Popular misconceptions --- Errors --- Political psychology --- Social influence --- Advertising --- Persuasion (Psychology) --- Psychological warfare --- Public relations --- Publicity --- Social pressure
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The Dangerous Art of Text Mining celebrates the bold new research now possible because of text mining: the art of counting words over time. However, this book also presents a warning: without help from the humanities, data science can distort the past and lead to perilous errors. The book opens with a rogue's gallery of errors, then tours the ground-breaking analyses that have resulted from collaborations between humanists and data scientists. Jo Guldi explores how text mining can give a glimpse of the changing history of the past - for example, how quickly Americans forgot the history of slavery. Textual data can even prove who was responsible in Congress for silencing environmentalism over recent decades. The book ends with an impassioned vision of what text mining in defence of democracy would look like, and why humanists need to be involved.
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