Download or read book Inherited Metabolic Disease in Adults written by Carla E. M. Hollak and published by Oxford University Press. This book was released on 2016 with total page 657 pages. Available in PDF, EPUB and Kindle. Book excerpt: As clinical management of inherited metabolic diseases (IMDs) has improved, more patients affected by these conditions are surviving into adulthood. This trend, coupled with the widespread recognition that IMDs can present differently and for the first time during adulthood, makes the need for a working knowledge of these diseases more important than ever. Inherited Metabolic Disease in Adults offers an authoritative clinical guide to the adult manifestations of these challenging and myriad conditions. These include both the classic pediatric-onset conditions and a number of new diseases that can manifest at any age. It is the first book to give a clear and concise overview of how this group of conditions affects adult patients, a that topic will become a growing imperative for physicians across primary and specialized care.
Download or read book A Clinical Guide to Inherited Metabolic Diseases written by Joe T. R. Clarke and published by Cambridge University Press. This book was released on 2005-12-08 with total page 360 pages. Available in PDF, EPUB and Kindle. Book excerpt: This user-friendly clinical handbook provides a clear and concise overview of how to go about recognizing and diagnosing inherited metabolic diseases. The reader is led through the diagnostic process from the identification of those features of an illness suggesting that it might be metabolic through the selection of appropriate laboratory investigation to a final diagnosis. The book is organized into chapters according to the most prominent presenting problem of patients with inherited metabolic diseases: neurologic, hepatic, cardiac, metabolic acidosis, dysmorphism, and acute catastrophic illness in the newborn. It also includes chapters on general principles, laboratory investigation, neonatal screening, and the principles of treatment. This new edition includes much greater depth on mitochondrial disease and congenital disorders of glycosylation. The chapters on neurological syndrome and newborn screening are greatly expanded, as are those on laboratory investigation and treatment, to take account of the very latest technological developments.
Download or read book A Simple Guide to Metabolic Disorders written by Haseeb Ahmad Khan and published by Nova Science Publishers. This book was released on 2014-05-10 with total page 114 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book can be used as a review guide for the students preparing for exams in medical or science disciplines. The first two chapters focus on the disorders of carbohydrate metabolism and the diseases of lipids metabolism. The third chapter highlights the diseases of protein metabolism including different forms of phenylalanemia, tyrosinemia, alkaptonuria and various urea cycle disorders. The fourth chapter discusses the diseases associated with nucleic acids metabolism such as gout and Lesch-Nyhan syndrome. The last two chapters are dedicated to concise but useful information on molecular genetics and various instrumental techniques used in a clinical diagnostic laboratory. An overview of respective macromolecules metabolism is also presented at the beginning of each chapter for a better understanding of the subject.
Download or read book Physician s Guide to the Laboratory Diagnosis of Metabolic Diseases written by N. Blau and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 732 pages. Available in PDF, EPUB and Kindle. Book excerpt: This second edition of The Physician's Guide provides paediatricians and other physicians with a unique aid to help them select the correct diagnosis from a bewildering array of complex clinical and laboratory data. Delay and mistakes in the diagnosis of inherited metabolic diseases may have devastating consequences. The guide, which includes a CD-ROM, describes 298 disorders which have been grouped into 35 chapters according to the type of condition. Within each group of disorders, chapters provide tables of pertinent clinical findings as well as reference and pathological values for crucial metabolites. Relevant metabolic pathways and diagnostic flow charts are included. There are three indices to make the book as user-friendly as possible.
Download or read book Inherited Metabolic Diseases written by Georg F. Hoffmann and published by Springer Science & Business Media. This book was released on 2009-11-21 with total page 380 pages. Available in PDF, EPUB and Kindle. Book excerpt: The explosion of insights in the field of metabolic disease has shed new light on diagnostic as well as treatment options. ‘Inherited Metabolic Disease – A Clinical Approach’ is written with a reader-friendly consistent structure. It helps the reader to find the information in an easily accessible and rapid way when needed. Starting with an overview of the major groups of metabolic disorders it includes algorithms with questions and answers as well as numerous graphs, metabolic pathways, and an expanded index. Clinical and diagnostic details with a system and symptom based are given to facilitate an efficient and yet complete diagnostic work-up of individual patients. Further, it offers helpful advice for emergency situations, such as hypoglycemia, hyperammonemia, lactic acidosis or acute encephalopathy. Five different indices allow a quick but complete orientation for common important constellations. Last but not least, it has an appendix with a guide to rapid differential diagnosis of signs and symptoms and when not to suspect metabolic disease. It will help physicians to diagnose patients they may otherwise fail to diagnose and to reduce unnecessary referrals. For metabolic and genetic specialists especially the indices will be helpful as a quick look when being called for advice. It has all it needs to become a gold standard defining the clinical practice in this field.
Download or read book Nutrition Management of Inherited Metabolic Diseases written by Laurie E. Bernstein and published by Springer. This book was released on 2015-06-03 with total page 363 pages. Available in PDF, EPUB and Kindle. Book excerpt: This up-to-date reference on the nutrition management of inherited metabolic diseases (IMD) covers a wide range of these disorders, including phenylketonuria and other aminoacidopathies, organic acidemias, urea cycle disorders, fatty acid oxidation disorders, galactosemia and glycogen storage diseases. Guidance is also provided on laboratory evaluations and biochemical testing and monitoring. Topics such as newborn screening for IMD, as well as nutrition management during pregnancy and transplantation, are addressed. The book is based on 7 years of lectures delivered through Metabolic University – an interactive, didactic program designed to provide training to dietitians who work with individuals with IMD. This book provides the basic information required to manage nutrition care and is a resource for clinicians new to this complex field.
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 Vademecum Metabolicum written by Johannes Zschocke and published by Schattauer Verlag. This book was released on 2011 with total page 188 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book The Metabolic Syndrome written by Christopher D. Byrne and published by John Wiley & Sons. This book was released on 2011-08-08 with total page 384 pages. Available in PDF, EPUB and Kindle. Book excerpt: The Metabolic Syndrome is a valuable reference text, covering all aspects of the metabolic syndrome and its constituent diseases including inflammation, oxidation and adipocytokines. This book explains the aetiology, pathogenesis and clinical treatment of all risk factors as well as the relationship with diabetes, non alcoholic fatty liver disease, polycystic ovary syndrome and coronary heart disease. The Metabolic Syndrome has been further improved from the 1st edition that was highly commended in 2006 Annual British Medical Association medical books competition. All chapters from the first edition are fully updated and this new edition contains an increase in international contributions and five new chapters on: Childhood obesity and metabolic syndrome Bariatric surgery for obesity Fitness Brain insulin resistance and appetite The nature of the insulin resistance seen in metabolic syndrome. This brand new edition of The Metabolic Syndrome will be an indispensable resource for all clinical researchers, physicians and scientists requiring detailed up-to-date information on the metabolic syndrome to further their own research or to treat and manage the syndrome and its complications. Specifically, the text will be of particular relevance to those involved and working in the fields of diabetes, endocrinology, obesity, cardiology, vascular disease and hepatology.
Download or read book Cancer as a Metabolic Disease written by Thomas Seyfried and published by John Wiley & Sons. This book was released on 2012-05-18 with total page 482 pages. Available in PDF, EPUB and Kindle. Book excerpt: The book addresses controversies related to the origins of cancer and provides solutions to cancer management and prevention. It expands upon Otto Warburg's well-known theory that all cancer is a disease of energy metabolism. However, Warburg did not link his theory to the "hallmarks of cancer" and thus his theory was discredited. This book aims to provide evidence, through case studies, that cancer is primarily a metabolic disease requring metabolic solutions for its management and prevention. Support for this position is derived from critical assessment of current cancer theories. Brain cancer case studies are presented as a proof of principle for metabolic solutions to disease management, but similarities are drawn to other types of cancer, including breast and colon, due to the same cellular mutations that they demonstrate.
Download or read book A Guide to Obesity and the Metabolic Syndrome written by George A. Bray and published by CRC Press. This book was released on 2011-03-28 with total page 400 pages. Available in PDF, EPUB and Kindle. Book excerpt: In the historical record there is abundant evidence that obesity was a medical and health concern as long as medicine has been practiced. The idea of diet and exercise are bulwarks in the fight against obesity in history from the time of Hippocrates to the 16th century-a span of 2,000 years. Examining the history and etiology of the obesity epidemic, this book discusses various requirements of effective intervention and treatment strategies. The first section covers the history of obesity, defines and evaluates the clinical presentation of the pathology, discusses its prevalence in the population, and explains common analytical measurements. Chapters include genetics and genetic factors, modern consequences of obesity, and quality of life issues. The second section introduces prevention strategies in children and adults, such as dietary and lifestyle changes, medication, and surgical interventions.
Download or read book Inborn Errors of Metabolism written by Brendan Lee and published by Oxford Monographs on Medical G. This book was released on 2014-10-13 with total page 393 pages. Available in PDF, EPUB and Kindle. Book excerpt: This volume is an expansion on the known treatment model of IEMs, one that establishes an innovative pathway approach and provides a new authority on this family of disease. Alongside the standard cadre of molecular and clinical underpinnings, this book includes coverage of newborn screening and an overarching treatment of IEMs as complex diseases.
Download or read book Nutrition Management of Patients with Inherited Metabolic Disorders written by Acosta and published by Jones & Bartlett Publishers. This book was released on 2010-10-22 with total page 489 pages. Available in PDF, EPUB and Kindle. Book excerpt: 5 Stars! Doody's Book Review Written by the foremost nutritionists in the United States, each of whom has more than 15 years of clinical experience providing nutrition management of patients with an inherited metabolic disorder (IMD), Nutrition Management of Patients with Inherited Metabolic Disorders supplies information to enhance the knowledge and skills needed by nutritionists/dietitians and other health care professionals who provide services to patients with IMDs. Many disorders that are disastrous to patients have been diagnosed and managed by diet, improving neurological and physical outcomes. However, nutrition problems still occur, whether due to the quality of the medical foods, inadequate prescription by health care providers or poor diet adherence by the patient. This book describes these problems and helps medical food manufacturers, medical geneticists, nutritionists/dietitians, and other health care providers find alternative forms of nutrients that would provide optimal nutrition and health for the patients.
Download or read book Laboratory Guide to the Methods in Biochemical Genetics written by Nenad Blau and published by Springer Science & Business Media. This book was released on 2008-05-31 with total page 860 pages. Available in PDF, EPUB and Kindle. Book excerpt: This manual deals specifically with laboratory approaches to diagnosing inborn errors of metabolism. The key feature is that each chapter is sufficiently detailed so that any individual can adopt the described method into their own respective laboratory.
Download or read book Physician s Guide to the Diagnosis Treatment and Follow Up of Inherited Metabolic Diseases written by Nenad Blau and published by Springer Nature. This book was released on 2022-02-21 with total page 1514 pages. Available in PDF, EPUB and Kindle. Book excerpt: This updated and enlarged second edition is a unique source of information on the diagnosis, treatment, and follow-up of metabolic diseases. The clinical and laboratory data characteristic of rare metabolic conditions can be bewildering for clinicians and laboratory personnel alike – reference laboratory data is scattered, and clinical descriptions can be obscure. The new Physician’s Guide with the additional more than 600 diseases now featured, documents 1200 conditions grouped according to type of disorder, organ system affected (e.g. liver, kidney, etc) or phenotype (e.g. neurological, hepatic, etc). It includes relevant clinical findings and highlights the pathological values for diagnostic metabolites. Guidance on appropriate biochemical genetic testing is also provided and established experimental therapeutic protocols are described, with recommendations on follow-up and monitoring. The authors are acknowledged experts, and the book is a valuable desk reference for all who deal with inherited metabolic diseases. Chapter 73 is available open access under a Creative Commons Attribution 4.0 International License via link.springer.com
Download or read book Inherited Metabolic Diseases written by Georg F. Hoffmann and published by Springer. This book was released on 2016-09-20 with total page 600 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book focuses on clinical presentations that may be caused by inherited metabolic diseases. Its symptom- and system-based approach will help clinicians with and without detailed knowledge of human biochemistry in all specialties to reach a correct diagnosis and institute the optimal treatment program. The book summarizes the central elements of inherited metabolic diseases and describes clearly how to carry out an efficient yet complete diagnostic work-up, thereby guiding the clinician from the presenting symptoms and signs through to effective initial management. After an introduction to the different disorders, the book explains when to consider an inborn metabolic error and which initial tests to order. Core aspects such as structured communication, guidelines, transition, pregnancy, maternal care and how to respond to various medical emergencies are covered. Therapeutic concepts such as dietary treatment are delineated and practical advice provided on the quite different treatment approaches required for individual diseases. An extensive section structured according to organ systems outlines the correct approach in the context of specific symptoms and signs. The value of each of the potential investigations is explained, with precise advice on the interpretation of results. The inclusion of algorithms, tables, lists, and charts facilitates rapid decision making and information retrieval, and the appendices include a helpful guide to differential diagnosis based on clinical and biochemical phenotypes. This new updated edition of Inherited Metabolic Diseases will be an invaluable aid for the busy clinician and an excellent quick reference for metabolic and genetic specialists.
Download or read book The Scientist s Guide to Cardiac Metabolism written by Michael Schwarzer and published by Academic Press. This book was released on 2015-11-04 with total page 241 pages. Available in PDF, EPUB and Kindle. Book excerpt: The Scientists Guide to Cardiac Metabolism combines the basic concepts of substrate metabolism, regulation, and interaction within the cell and the organism to provide a comprehensive introduction into the basics of cardiac metabolism. This important reference is the perfect tool for newcomers in cardiac metabolism, providing a basic understanding of the metabolic processes and enabling the newcomer to immediately communicate with the expert as substrate/energy metabolism becomes part of projects. The book is written by established experts in the field, bringing together all the concepts of cardiac metabolism, its regulation, and the impact of disease. - Provides a quick and comprehensive introduction into cardiac metabolism - Contains an integrated view on cardiac metabolism and its interrelation in metabolism with other organs - Presents insights into substrate metabolism in relation to intracellular organization and structure as well as whole organ function - Includes historical perspectives that reference important investigators that have contributed to the development of the field
