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Inherited Metabolic Diseases
Inherited Metabolic Diseases are common enough for health, social service and education professionals to encounter them periodically, but rare enough for them to be poorly understood. They severely affect up to 1 in 10,000 people, and lead to a wide range of special needs in care and education. This guide provides specialist information on metabolic diseases for the non-specialist. In a concise, accessible and family-friendly format, each entry lists the names by which a condition is known, and explains the genetic causes of the disease, the physical effects, the patient's symptoms, and available treatments. Key diseases from all ten major groups of metabolic disorders are described, and all entries have been reviewed by Specialist Advisers. The work has been coordinated by the charity Climb, Children Living with Inherited Metabolic Diseases. This uniquely comprehensive source of information is a vital reference for hospital doctors including paediatricians, general practitioners, nurses and other health professionals, social service and education staff and managers, and the families and carers of children with the conditions.
Oxford Handbook of Midwifery
This unique and bestselling handbook provides midwives with everything they need for successful practice. It contains concise, practical and expert guidance on all aspects of the midwife's role, from pre-conceptual advice to the final post-natal examination of the mother and baby.
JIMD Reports, Volume 22
JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.
Nutrition Guide for Physicians
Nutrition Guide for Physicians is a desktop reference guide on nutrition and its clinical implications for health and disease through the lifecycle. Presented in a new softcover format and user-friendly style, it serves as a valuable resource of practical information on nutrition for physicians in their daily practice. Nutrition Guide for Physicians is divided into three parts that cross the spectrum of nutritional concerns for improving the practice of medicine. Part One provides basic nutritional principles for physicians. Part Two covers nutrition through the lifecycle and optimal nutrition patterns through all stages of development. Part Three covers diet and its role in prevention, cause and treatment of disease. All chapters include figures and tables that provide useful descriptive and visual reviews. "Key points" and succinct "conclusions" are also provided for each topic. Nutrition Guide for Physicians provides a wide perspective of the impact that nutrition has upon medical practice and will be am indispensable resource for primary care physicians and other medical professionals.
The Neuronal Ceroid Lipofuscinoses (Batten Disease)
The neuronal ceroid lipofuscinoses are an extremely rare group of inherited neurodegenerative diseases that primarily affect children. Core symptoms of these conditions typically include epilepsy, cognitive decline and visual failure. These diseases are so rare that professionals who come into contact with them need a consultative reference work that enables them to become expert, or identify who to contact for more details. Fully updated and revised, this second edition continues to be the definitive volume on this devastating group of disorders. Written by an international collection of authorities in the field, it provides invaluable advice on their diagnosis, patient care, and new treatments that are available. This new edition of the definitive reference text on the neuronal ceroid lipofuscinoses will prove useful for clinicians, family physicians, research scientists, diagnostic laboratories, families affected by the disease as well as by workers in industry planning translational research.
Midwife's Guide to Antenatal Investigations
The eBook version of this title gives you access to the complete book content electronically*. Evolve eBooks allows you to quickly search the entire book, make notes, add highlights, and study more efficiently. Buying other Evolve eBooks titles makes your learning experience even better: all of the eBooks will work together on your electronic "bookshelf", so that you can search across your entire library of Midwifery eBooks. *Please note that this version is the eBook only and does not include the printed textbook. Alternatively, you can buy the Text and Evolve eBooks Package (which gives you the printed book plus the eBook). Please scroll down to our Related Titles section to find this titl...
A Good Death?
This interdisciplinary collection presents valuable discourse and reflection on the nature of a good death. Bringing together a leading judge and other legal scholars, philosophers, social scientists, practitioners and parents who present varying accounts of a good death, the chapters draw from personal experience as well as policy, practice and academic analysis. Covering themes such as patients’ rights to determine their own good death, considering their best interests when communication becomes difficult and the role and responsibilities of health professionals, the book outlines how ethical healthcare might be achieved when dealing with assisted suicide by organizations and how end of life services in general might be improved. It will be of interest to students and academics working the area of medical law and ethics as well as health professionals and policy-makers.
Oxford Handbook of Midwifery 3e
Now in its third edition the Oxford Handbook of Midwifery continues to be the essential one-stop guide to the key principles of the care and management of pregnancy, birth and beyond. Concise yet comprehensive, with its recognisable and easy-to-use Oxford Handbook format, midwives will find this a treasure trove of clear, practical guidance. Whether you are a student needing a helping hand through the subject, or an experienced practitioner needing to refresh your knowledge in an emergency, you can be sure that this handbook will be there for you. Written by experienced midwives, and following the latest guidelines and key care protocols, this handbook is up-to-date and authoritative, with s...
The Quest for Cortisone
In 1948, when “Mrs. G.,” hospitalized with debilitating rheumatoid arthritis, became the first person to receive a mysterious new compound—cortisone—her physicians were awestruck by her transformation from enervated to energized. After eighteen years of biochemical research, the most intensively hunted biological agent of all time had finally been isolated, identified, synthesized, and put to the test. And it worked. But the discovery of a long-sought “magic bullet” came at an unanticipated cost in the form of strange side effects. This fascinating history recounts the discovery of cortisone and pulls the curtain back on the peculiar cast of characters responsible for its advent, including two enigmatic scientists, Edward Kendall and Philip Hench, who went on to receive the Nobel Prize. The book also explores the key role the Mayo Clinic played in fostering cortisone’s development, and looks at drugs that owe their heritage to the so-called “King of Steroids.”
Fabry Disease
Fabry disease is an X-linked inborn error of metabolism wherein deficiency of a lysosomal enzyme results in systemic deposition of glycosphingolipids. Storage deposition, and hence pathological disease, occurs preferentially in renal glomerular and tubular epithelial cells, myocardial cells, heart valve fibrocytes, neurons of dorsal root ganglia, and in endothelial smooth muscle cells of blood vessels. Thus, Fabry disease is a multi-system disorder, albeit with considerable phenotypic heterogeneity in onset and in severity; however, it is progressive, exhibits extensive morbidity, and is life-threatening. Within the past two decades, there has been a radical change in the natural course Fabr...
