eBook downloads, eBook resources & eBook authors
The second edition of Inherited Cancer Syndromes incorporates new genetic markers data with the clinical utility and practicality of the first edition.
Every year, thousands of people die or suffer chronic disability as the result of inherited diseases of the cardiovascular system. In many cases, diagnosis of inherited disease is delayed or missed owing to a lack of awareness, and an even greater number of relatives are exposed to unnecessary risk. This new edition of Inherited Cardiac Disease provides a comprehensive summary of the aetiology, presentation, and management of genetic disorders of the cardiovascular system. Fully updated to reflect the advances in molecular genetic technologies and the publication of national guidelines for the management of families with inherited cardiac diseases, it retains the first edition's broad scope and applicability to all members of the multidisciplinary team, from specialists in cardiology and clinical genetics, to genetic counsellors, paediatricians, nurse specialists, and GPs who may come into contact with families presenting with inherited cardiac diseases. Containing both a short section on the general principles of cardiovascular genetics, individual disorders are then examined in detail, each featuring a clinical summary, diagnostic tests and special investigations, and treatments relevant to each inherited cardiac disease. Written in the succinct bullet-point style of the Oxford Specialist Handbooks, this new edition of Inherited Cardiac Disease delivers key information in an accessible manner, and is an invaluable guide to anyone who works with patients who are affected by inherited diseases of the cardiovascular system in their practice.
How to regulate the transfer of wealth from one generation to the next has been hotly debated among politicians, legal scholars, sociologists, economists, and philosophers for centuries. Bequeathing wealth is a vital ingredient of family solidarity. But does the reproduction of social inequality through inheritance square with the principle of equal opportunity? Does democracy suffer when family wealth becomes political power? The first in-depth, comparative study of the development of inheritance law in the United States, France, and Germany, Inherited Wealth investigates longstanding political and intellectual debates over inheritance laws and explains why these laws still differ so greatly among these countries. Using a sociological perspective, Jens Beckert sheds light on the four most controversial issues in inheritance law during the past two centuries: the freedom to dispose of one's property as one wishes, the rights of family members to the wealth bequeathed, the dissolution of entails (which restrict inheritance to specific classes of heirs), and estate taxation. Beckert shows that while the United States, France, and Germany have all long defended inheritance rights based on the notion of individual property rights, they have justified limitations on inheritance rights in profoundly different ways, reflecting culturally specific ways of understanding the problems of inherited wealth.
Inherited thrombophilia increases the likelihood of venous thrombosis. The highest risk is associated with severe inherited thrombophilia which, if diagnosed, will often affect the duration of treatment in patients with venous thrombosis. High-risk thrombophilia is associated with antithrombin deficiency homozygosity for FV Leiden or prothrombin G20210A mutation simultaneous heterozygosity for several gene defects (double heterozygosity) protein C, and possibly protein S, deficiency. Solitary heterozygous FV Leiden or prothrombin mutation will increase the thrombotic risk only slightly. The association between inherited thrombophilia and arterial occlusion is less clearly demonstrated. In practice, arterial obstruction should only raise a suspicion of inherited thrombophilia if encountered in a young person with no known risk factors. Predisposition to thrombotic events may also be caused by acquired disturbances in the coagulation system, the most important of which is the presence of circulating phospholipid antibodies.
The explosion of information in neurogenetics and metabolism mandates increasing awareness of appropriate diagnostic and therapeutic strategies in the setting of certain epilepsies, especially those of very early onset. There are over 200 inherited disorders that are associated with seizures and prompt identification and intervention is crucial for a positive outcome. This text brings together leading authorities presenting state-of-the-art clinical reviews covering the science, recognition, and treatment of the inherited metabolic epilepsies and related disorders. Inherited Metabolic Epilepsies opens with a section on general principles for diagnosis and targeted intervention including screening protocols, laboratory testing, neuroimaging, seizure patterns and EEG findings, new technologies, and the ketogenic diet in metabolic epilepsies. The next two sections are devoted to the cohort of specific small molecule disorders (aminoacidopathies, organic acidopathies, mitochondrial disorders, urea cycle disorders, neurotransmitter disorders, and glucose-related disorders) and large molecule disorders (lysomal storage disorders, peroxisomal diseases, glycosylation defects, and leukodystrophies) that are treatable yet can be so vexing to clinicians and investigators. The book concludes with a clinical algorithm designed to be a resource for the physician in search of direction when considering an inherited metabolic disorder as the explanation for a patient with epilepsy. Inherited Metabolic Epilepsies Key Features: Presents the latest scientific thinking and clinical wisdom for a poorly understood group of disorders that have devastating consequences if unrecognized or not promptly treated Expert authorship from both the genetic-metabolic and epilepsy communities provides state-of-the-art guidance for understanding and managing these disorders A readable text for clinicians highlighting the relation between metabolic errors and epilepsy Concludes with a practical algorithm for evaluating a patient with a possible metabolic epilepsy
My reason for writing this book is multifaceted. First, it is a contemplative look back into a distinctive time in America's history through the lives of my two grandfathers, Maurice Elmer Drake and Archibald Vance Houston; and an examination of their service to our great country during World War II. My life intersected these two men as a result of my parent's loving choice to adopt me as their son at the time of my birth. Second, it is a critical look into our present situation as a nation, as compared to and contrasted with our past, which I undertook with a burning desire due to the personal impact of my grandfathers' service. Lastly, this book is a consideration of the future of this great country as it lies in the hands of my generation and outlines our responsibilities: to protect it and to provide our descendants with the inherited freedom that was earned in blood by the Greatest Generation over sixty years ago. Please visit www.inheritedfreedom.com for more information.
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.
The first book with a holistic approach to all aspects of carefor women with inherited bleeding disorders Ever wondered about heavy menstrual bleeding that did notseem to have any natural or physical causes? Ever had patients coming in with a family tree full ofbleeding disorders? Inherited bleeding disorders have an adverse effect on thequality of life of afflicted women. Management of these women andtheir conditions is challenging and close collaboration betweenprofessionals in different specialities is needed. Internationalexperts and leaders of clinical research including haematologists,obstetrician-gynaecologists, an anaesthetist and those involved inpatient advocacy show you how in this practical guide forclinicians. Inherited Bleeding Disorders in Women covers thegynaecological and obstetric issues for carriers of haemophilia women with von Willebrand’s disease rare bleeding disorders and inherited platelet disorders. This book includes recent advances in the field and exploresareas for future research. The women’s perspective and theefforts of advocacy groups are also discussed in the final chapter.These features make this book a unique, comprehensive andmulti-disciplinary resource. Pick up your copy today and see the difference it makes tothe lives of your patients!
The sixteenth annual symposium of the Society for the Study of Inborn Errors of Metabolism was held in Bristol from 12th to 14th July, 1978. About 25 invited speakers and 150 participants came from many parts of Europe and North America to consider the topic, 'Inherited Disorders of Carbohydrate Metabolism'. Although some aspects of these disorders have formed part of the programme of previous symposia organized by the Socie ty, this was the first attempt to discuss them in a systematic manner. The subject, carbohydrate disorders, embraces both familiar and well documented conditions and some lesser known aspects of genetic disease. In all of these there remains much to be learnt about clinical and laboratory diagnosis, treatment, biochemical screening and pathogenesis. Thus one aim of the Society, to combine clinical and scientific interest, can rarely have been better achieved in a single symposium. Since the programme included diseases from six different areas of car bohydrate metabolism and contained so many distinguished speakers, it is impossible to highlight the more important aspects of this symposium within a short space. Each section made a notable contribution to knowledge and, when time was available, lively discussions ensued which have been recorded in the book. However, we wish to mention our two special lectures, because they recognise people to whom the Society owes a great deal. The Milner lecture has been given for the past 6 years as a tribute to Mr J.
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.
