Inborn Genetic Diseases: Advances in Research and Treatment: 2011 Edition


Book Description

Inborn Genetic Diseases: Advances in Research and Treatment: 2011 Edition is a ScholarlyEditions™ eBook that delivers timely, authoritative, and comprehensive information about Inborn Genetic Diseases. The editors have built Inborn Genetic Diseases: Advances in Research and Treatment: 2011 Edition on the vast information databases of ScholarlyNews.™ You can expect the information about Inborn Genetic Diseases in this eBook to be deeper than what you can access anywhere else, as well as consistently reliable, authoritative, informed, and relevant. The content of Inborn Genetic Diseases: Advances in Research and Treatment: 2011 Edition has been produced by the world’s leading scientists, engineers, analysts, research institutions, and companies. All of the content is from peer-reviewed sources, and all of it is written, assembled, and edited by the editors at ScholarlyEditions™ and available exclusively from us. You now have a source you can cite with authority, confidence, and credibility. More information is available at http://www.ScholarlyEditions.com/.




Cystic Fibrosis


Book Description

Cystic fibrosis (CF) is one of the most common fatal hereditary diseases. The discovery of the cystic fibrosis transmembrane conductance regulator (CFTR) gene 25 years ago set the stage for unraveling the pathogenesis of CF lung disease, continuous refinement of symptomatic treatments and the development of mutation-specific therapies, which are now becoming available for a subgroup of patients. This ERS Monograph provides an update on all aspects of CF lung disease, from infancy to adulthood, including current concepts on disease process, improvements in early diagnosis and monitoring, therapeutic approaches, and patient care. The book highlights important recent developments and discusses the next steps that will be required for further improvement of the life expectancy and quality of life of CF patients. It will be an essential reference for basic and clinical scientists and all members of the CF team.




Adherence and Self-Management in Pediatric Populations


Book Description

Adherence and Self-Management in Pediatric Populations addresses the contemporary theories, evidence-based assessments, and intervention approaches for common pediatric chronic illnesses. An introductory chapter summarizes the state of the field and provides a general foundation in adherence and self-management. Subsequent chapters focus on specific diseases, ensuring that the scope of knowledge contained therein is current and thorough, especially as the assessments and interventions can be specific to each disease. Case examples are included within each chapter to illustrate the application of these approaches. The book ends with an emerging areas chapter to illuminate the future of adherence science and clinical work. This book will be extremely helpful to professionals beginning to treat youth with suboptimal adherence or for those who conduct adherence research. Experts in the field will benefit from the synthesized literature to aid in clinical decision-making and advancing adherence science. Organized by disease for quick reference Provides case examples to illustrate concepts Incorporates technology-focused measurement and intervention approaches (mobile and electronic health) throughout




Cystic Fibrosis, An Issue of Pediatric Clinics of North America, E-Book


Book Description

Cystic Fibrosis (CF) is a multisystem disease whose symptoms and signs involve the gastrointestinal tract (thus affecting nutritional status), endocrine system, reproductive system and the respiratory tract (nose, sinuses and lungs). Despite new treatments, the median survival for patients with CF is less than optimal, primarily due to complications of obstructive lung disease. Currently there are approximately 60,000-80,000 people worldwide with CF. The clinical manifestations of CF are caused by dysfunction of CFTR (cystic fibrosis transmembrane conductance regulator), a multifunctional cyclic-AMP regulated ion channel protein. Over time, there has been dramatic improvement in CF patient life expectancy, in large part related to earlier diagnosis (newborn screening), better understanding of molecular genetics and underlying pathophysiology, the integrated and highly specialized Cystic Fibrosis Foundation Accredited Care Centers, and development of a wide range of new treatments and therapies, some of which target the basic CFTR defect. This edition of Pediatric Clinics of North America will offer general pediatricians and family physicians, as well as subspecialists, an update of the extraordinary progress made in the understanding and treatment of Cystic Fibrosis.




Assessing Genetic Risks


Book Description

Raising hopes for disease treatment and prevention, but also the specter of discrimination and "designer genes," genetic testing is potentially one of the most socially explosive developments of our time. This book presents a current assessment of this rapidly evolving field, offering principles for actions and research and recommendations on key issues in genetic testing and screening. Advantages of early genetic knowledge are balanced with issues associated with such knowledge: availability of treatment, privacy and discrimination, personal decision-making, public health objectives, cost, and more. Among the important issues covered: Quality control in genetic testing. Appropriate roles for public agencies, private health practitioners, and laboratories. Value-neutral education and counseling for persons considering testing. Use of test results in insurance, employment, and other settings.







Hodson and Geddes' Cystic Fibrosis


Book Description

Hodson and Geddes' Cystic Fibrosis provides everything the respiratory clinician, pulmonologist or health professional treating patients needs in a single manageable volume. This international and authoritative work brings together current knowledge and has become established in previous editions as a leading reference in the field. This fourth edition includes a wealth of new information, figures, useful videos, and a companion eBook. The basic science that underlies the disease and its progression is outlined in detail and put into a clinical context. Diagnostic and clinical aspects are covered in depth, as well as promising advances such as gene therapies and other novel molecular based treatments. Patient monitoring and the importance of multidisciplinary care are also emphasized. This edition: Features accessible sections reflecting the multidisciplinary nature of the cystic fibrosis care team Contains a chapter written by patients and families about their experiences with the disease Includes expanded coverage of clinical areas, including chapters covering sleep, lung mechanics and the work of breathing, upper airway disease, insulin deficiency and diabetes, bone disease, and sexual and reproductive issues Discusses management both in the hospital and at home Includes a new section on monitoring and discusses the use of databases to improve patient care Covers monitoring in different age groups, exercise testing and the outcomes of clinical trials in these areas Includes chapters devoted to nursing, physiotherapy, psychology, and palliative and spiritual care Throughout, the emphasis is on providing an up-to-date and balanced review of both the clinical and basic science aspects of the subject and reflecting the multidisciplinary nature of the cystic fibrosis care team.




Fetal Medicine


Book Description

Fetal medicine has emerged as a separate subspecialty over the last 30 years as a result of major advances in a number of areas, in particular ultrasound imaging, cytogenetics, molecular biology and biochemistry. The widespread use of antenatal screening and diagnostic tests has led to an increased need for obstetricians to have knowledge and skills in fetal medicine. This book provides the information that underpins training programmes in fetal medicine and integrates science and clinical disciplines in a practical and useful way. Clinical sections include: the latest advances in prenatal screening; a systems-based presentation of the diagnosis and management of fetal malformations; complete coverage of common and rare fetal conditions including growth restriction, endocrine and platelet disorders, early pregnancy loss, and twins/multiple pregnancy. More focus on important basic-science concepts, such as maternofetal cell trafficking, and the relevance to clinical management.