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Cystic fibrosis used to be thought of as a respiratory and digestive disease, with a uniformly and rapidly fatal outcome. The spectrum of the disease has broadened into the mild atypical case, presenting in middle age, with the potential for complications in virtually every system of the body. In the past few years there has been an explosion of knowledge of the basic science of the defect. The editors have therefore invited the leading scientists and clinicians in the field of cystic fibrosis to describe the recent advances in this disease. Although there are many 'Recent Advances' texts, previous books have been selective in their choice of topics. This book is the first to cover the entire field of this complex disease, and encompasses the rapidly moving topics of the basic molecular and cellular biology as well as the recent multi-system, multi-disciplinary advances in the clinical care of patients. The authors have been charged with writing only about new developments and not to rehash old literature. The bulk of the references is therefore less than five years old. This book addresses all professionals who treat cystic fibrosis and want to have an up-date of new findings in the field, particularly of those outside their immediate specialisation. It will also be useful for basic researchers interested in related scientific areas and the clinical context of their work.
Cystic fibrosis, a genetic disorder in children and young adults, is a multisystemic disease that mainly affects the lungs. Advances and improvements in the diagnosis and management of this condition have led to increased overall and symptom-free survival in cystic fibrosis patients. This book examines recent advances in the field and presents an evidence-based approach to the management of cystic fibrosis.
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.
This open access book examines health trajectories and health transitions at different stages of the life course, including childhood, adulthood and later life. It provides findings that assess the role of biological and social transitions on health status over time. The essays examine a wide range of health issues, including the consequences of military service on body mass index, childhood obesity and cardiovascular health, socio-economic inequalities in preventive health care use, depression and anxiety during the child rearing period, health trajectories and transitions in people with cystic fibrosis and oral health over the life course. The book addresses theoretical, empirical and methodological issues as well as examines different national contexts, which help to identify factors of vulnerability and potential resources that support resilience available for specific groups and/or populations. Health reflects the ability of individuals to adapt to their social environment. This book analyzes health as a dynamic experience. It examines how different aspects of individual health unfold over time as a result of aging but also in relation to changing socioeconomic conditions. It also offers readers potential insights into public policies that affect the health status of a population.
Cystic Fibrosis in the Light of New Research provides the latest research and clinical evidence that will be useful for clinicians, scientists and researchers to further their knowledge around this fascinating condition. The authors have brought along their expertise and wealth of knowledge to produce this book, including the basic science that underlies the disease, the burden of bacterial and viral infections, immunologic aspects of CF, a variety of clinical measurements to predict prognosis and novel therapies including gene therapy. This book will be invaluable and entertaining for anyone who is involved in the care of patients with cystic fibrosis.
The CFTR chloride channel is one of the most well studied transport proteins in biology. Yet there remain many mysteries about the functional properties and biological roles of this ABC transporter. The Cystic Fibrosis Transmembrane Conductance Regulator addresses a select series of `hot' topics that relate to the function of CFTR, and the links between CFTR dysfunction and human disease (i.e., cystic fibrosis). The timeliness of these topics distinguishes this collection from previous volumes of this type. Given the general interest in CFTR, this collection will appeal to a broad readership with interests in CFTR, cystic fibrosis, ion channels and ABC transporters.
This User’s Guide is intended to support the design, implementation, analysis, interpretation, and quality evaluation of registries created to increase understanding of patient outcomes. For the purposes of this guide, a patient registry is an organized system that uses observational study methods to collect uniform data (clinical and other) to evaluate specified outcomes for a population defined by a particular disease, condition, or exposure, and that serves one or more predetermined scientific, clinical, or policy purposes. A registry database is a file (or files) derived from the registry. Although registries can serve many purposes, this guide focuses on registries created for one or more of the following purposes: to describe the natural history of disease, to determine clinical effectiveness or cost-effectiveness of health care products and services, to measure or monitor safety and harm, and/or to measure quality of care. Registries are classified according to how their populations are defined. For example, product registries include patients who have been exposed to biopharmaceutical products or medical devices. Health services registries consist of patients who have had a common procedure, clinical encounter, or hospitalization. Disease or condition registries are defined by patients having the same diagnosis, such as cystic fibrosis or heart failure. The User’s Guide was created by researchers affiliated with AHRQ’s Effective Health Care Program, particularly those who participated in AHRQ’s DEcIDE (Developing Evidence to Inform Decisions About Effectiveness) program. Chapters were subject to multiple internal and external independent reviews.
Recommended by Bill Gates and included in GatesNotes "Elaborating on the science as well as the business behind the fight against cystic fibrosis, Trivedi captures the emotions of the families, doctors, and scientists involved in the clinical trials and their 'weeping with joy' as new drugs are approved, and shows how cystic fibrosis, once a 'death sentence,' became, for many, a manageable condition. This is a rewarding and challenging work." —Publishers Weekly Cystic fibrosis was once a mysterious disease that killed infants and children. Now it could be the key to healing millions with genetic diseases of every type—from Alzheimer's and Parkinson's to diabetes and sickle cell anemia. In 1974, Joey O'Donnell was born with strange symptoms. His insatiable appetite, incessant vomiting, and a relentless cough—which shook his tiny, fragile body and made it difficult to draw breath—confounded doctors and caused his parents agonizing, sleepless nights. After six sickly months, his salty skin provided the critical clue: he was one of thousands of Americans with cystic fibrosis, an inherited lung disorder that would most likely kill him before his first birthday. The gene and mutation responsible for CF were found in 1989—discoveries that promised to lead to a cure for kids like Joey. But treatments unexpectedly failed and CF was deemed incurable. It was only after the Cystic Fibrosis Foundation, a grassroots organization founded by parents, formed an unprecedented partnership with a fledgling biotech company that transformative leaps in drug development were harnessed to produce groundbreaking new treatments: pills that could fix the crippled protein at the root of this deadly disease. From science writer Bijal P. Trivedi, Breath from Salt chronicles the riveting saga of cystic fibrosis, from its ancient origins to its identification in the dank autopsy room of a hospital basement, and from the CF gene's celebrated status as one of the first human disease genes ever discovered to the groundbreaking targeted genetic therapies that now promise to cure it. Told from the perspectives of the patients, families, physicians, scientists, and philanthropists fighting on the front lines, Breath from Salt is a remarkable story of unlikely scientific and medical firsts, of setbacks and successes, and of people who refused to give up hope—and a fascinating peek into the future of genetics and medicine.