Download or read book CFTR and Cystic Fibrosis written by Carlos M. Farinha and published by Springer. This book was released on 2017-10-01 with total page 70 pages. Available in PDF, EPUB and Kindle. Book excerpt: This Brief is devoted to the CFTR protein and cystic fibrosis, and it provides an updated perspective of the genetic, functional and cellular processes involved in this conformational disorder. Starting with a historical perspective on cystic fibrosis and its clinical features, the author departs into an in-depth description of the biology of the CFTR protein, ending with a discussion on the latest approaches aimed at developing corrective therapies for cystic fibrosis. First the basic aspects of cystic fibrosis as a disorder are addressed, focusing on genetics and mutation prevalence. Then the CFTR protein is discussed in detail: its structure and classification within the ABC transporter superfamily, its biogenesis with membrane insertion and chaperone assisted folding, its glycosylation and how it regulates the endoplasmatic reticulum quality control mechanisms that assess CFTR folding status. Extra attention is given to post-ER trafficking and regulation of membrane stability and anchoring, and to CFTR functions. This is linked to the molecular mechanisms through which different CFTR mutations cause cystic fibrosis. Finally, the different efforts aiming at rescuing the basic defect, most of which aim at repairing CFTR dysfunction, are covered. Through this integrated perspective, readers will obtain a unique insight into this fascinating membrane-bound protein and its associated disease. This Brief appeals to an audience interested in human genetics, protein folding, protein trafficking and physiology.
Download or read book Cystic Fibrosis in the Light of New Research written by Dennis Wat and published by BoD – Books on Demand. This book was released on 2015-08-24 with total page 394 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book The Cystic Fibrosis Transmembrane Conductance Regulator written by Kevin L. Kirk and published by Springer Science & Business Media. This book was released on 2003-10-31 with total page 236 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Cystic Fibrosis in the 21st Century written by Andrew Bush and published by Karger Medical and Scientific Publishers. This book was released on 2006 with total page 341 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Understanding Cystic Fibrosis written by Karen Hopkin and published by Univ. Press of Mississippi. This book was released on 2010-02-11 with total page 144 pages. Available in PDF, EPUB and Kindle. Book excerpt: Cystic Fibrosis (CF) is the most common genetic disorder in the white population. Since the discovery of the CF gene in 1989, scientists have learned a great deal about the biology of this disease, which strikes one child in every 3.300 births. With the gene pinpointed, scientists are now working on ways to replace it and are developing better tests for early diagnosis. Understanding Cystic Fibrosis charts the progress that has been made in identifying the mutations that cause CF and in understanding how these genetic errors cause a disease whose symptoms can range from mild respiratory distress to life-threatening lung infections. This book features a review of current available treatments; research that can lead to therapies and perhaps a cure; advice and resources for families and patients; how to work best with health-care providers and HMOs; the history and diagnosis of CF; who gets CF and why; how CF affects the lungs, intestines, and other organs; and a list of organizations, support groups, and resources.
Download or read book Emerging Therapeutic Approaches for Cystic Fibrosis written by Miquéias Lopes-Pacheco and published by Frontiers Media SA. This book was released on 2020-01-27 with total page 281 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Cystic Fibrosis in Primary Care written by Douglas Lewis, MD, FAAFP and published by Springer Nature. This book was released on 2020-01-28 with total page 184 pages. Available in PDF, EPUB and Kindle. Book excerpt: Cystic fibrosis is a disease that affects the entire body. It tends to be thought of as primarily a pulmonary disease since pulmonary decline is the main factor in early mortality. Because of the multi-system nature of the disease, a better understanding of cystic fibrosis expands the family physician's understanding of subjects ranging from genetics to pulmonary function to nutrition to colon transport to hydration to electrolyte management. The primary care philosophy is unique in that it always considers how a narrow problem can affect an individual globally. Cystic Fibrosis care can often feel fractured to patients as they are sent to multiple specialists to deal with problems outside of the comfort level of a prior or current specialist. With a broad medical philosophy, care is more inclusive as clinicians can manage topics such as diabetes and preventive care without multiple referrals and additional appointments. Family physicians are well-positioned and well-qualified to competently meet many of the care needs of those with cystic fibrosis. This book is edited by a family medicine physician who has specialist level experience with the disease. It opens with a background on cystic fibrosis foundations and centers to familiarize the reader. The next chapter gives a basic overview of the disease. Each of the subsequent chapters provide a comprehensive look at how cystic fibrosis affects other areas of the body that the primary care physician should be familiar with. Major components of cystic fibrosis such as physiology, spirometry, inflammation, airway clearance, chronic infection, cystic fibrosis related diabetes and pancreatic insufficiency, among others, are thoroughly explained. Written by experts in the field, Cystic Fibrosis in Primary Care appeals to all family physicians as well as specialists, residents, medical students physician assistants and nurse practitioners alike.
Download or read book Cystic Fibrosis Methods and Protocols written by William R. Skach and published by Springer Science & Business Media. This book was released on 2008-02-02 with total page 626 pages. Available in PDF, EPUB and Kindle. Book excerpt: Since the cloning of the cystic fibrosis transmembrane conductance re- lator (CFTR) nearly a decade ago, cystic fibrosis (CF) research has witnessed a dramatic expansion into new scientific areas. Basic researchers, clinicians, and patients increasingly rely on fundamental techniques of genetics, molecular biology, electrophysiology, biochemistry, cell biology, microbiology, and immunology to understand the molecular basis of this complex disease. Research into the pathophysiology of CF has established numerous paradigms of ion channel dysfunction that extend from inflammation and infection in the airways of patients to basic mechanisms of protein processing and regulation in intracellular components. With these rapid advances has come an increasing need for research scientists to understand and utilize a growing array of basic laboratory tools. This volume of Methods in Molecular Medicine, Cystic Fibrosis Methods and Protocols satisfies that need by providing detailed protocols for the laboratory techniques used throughout CF research. From electrophysiology and cell biology, to animal models and gene therapy, the comprehensive set of methods covered here provide step-by-step instructions needed for investigators to incorporate new approaches into their research programs. Contributions have been chosen to reflect the rich diversity of techniques and to provide a cohesive framework for understanding challenges that are currently at the forefront of CF research. It is hoped that this volume will serve as a valuable reference that will not only foster interdisciplinary investigations into current problems encountered in CF, but also facilitate the translation of new scientific discoveries into clinical solutions.
Download or read book Lung Epithelial Biology in the Pathogenesis of Pulmonary Disease written by Venkataramana K Sidhaye and published by Academic Press. This book was released on 2017-03-09 with total page 277 pages. Available in PDF, EPUB and Kindle. Book excerpt: Lung Epithelial Biology in the Pathogenesis of Pulmonary Disease provides a one-stop resource capturing developments in lung epithelial biology related to basic physiology, pathophysiology, and links to human disease. The book provides access to knowledge of molecular and cellular aspects of lung homeostasis and repair, including the molecular basis of lung epithelial intercellular communication and lung epithelial channels and transporters. Also included is coverage of lung epithelial biology as it relates to fluid balance, basic ion/fluid molecular processes, and human disease. Useful to physician and clinical scientists, the contents of this book compile the important and most current findings about the role of epithelial cells in lung disease. Medical and graduate students, postdoctoral and clinical fellows, as well as clinicians interested in the mechanistic basis for lung disease will benefit from the books examination of principles of lung epithelium functions in physiological condition. Provides a single source of information on lung epithelial junctions and transporters Discusses of the role of the epithelium in lung homeostasis and disease Includes capsule summaries of main conclusions as well as highlights of future directions in the field Covers the mechanistic basis for lung disease for a range of audiences
Download or read book Kendig and Chernick s Disorders of the Respiratory Tract in Children E Book written by Robert W. Wilmott and published by Elsevier Health Sciences. This book was released on 2012-02-25 with total page 1163 pages. Available in PDF, EPUB and Kindle. Book excerpt: Kendig, Chernick’s Disorders of the Respiratory Tract in Children is the definitive medical reference book to help you confront critical challenges using the latest knowledge and techniques. You’ll get the state-of-the-art answers you need to offer the best care to young patients. Tackle the toughest challenges and improve patient outcomes with coverage of all the common and rare respiratory problems found in newborns and children worldwide. Get a solid foundation of knowledge to better understand and treat your patients through coverage of the latest basic science and its relevance to clinical problems. Get comprehensive, authoritative coverage on today’s hot topics, such as interstitial lung disease, respiratory disorders in the newborn, congenital lung disease, swine flu, genetic testing for disease and the human genome, inflammatory cytokines in the lung, new radiologic techniques, diagnostic imaging of the respiratory tract, and pulmonary function tests. Learn from the experts with contributions from 100 world authorities in the fields of pediatrics, pulmonology, neurology, microbiology, cardiology, physiology, diagnostic imaging, anesthesiology, otolaryngology, allergy, and surgery.
Download or read book Clinical Pancreatology for Practising Gastroenterologists and Surgeons written by Juan Enrique Dominguez-Munoz and published by John Wiley & Sons. This book was released on 2021-03-17 with total page 752 pages. Available in PDF, EPUB and Kindle. Book excerpt: Clinical Pancreatology Since the book Clinical Pancreatology for Practising Gastroenterologists and Surgeons was first published sixteen years ago, the knowledge and clinical management of pancreatic diseases have developed markedly. Thanks to the development of the translational research and the from bench to bedside concept, much progress from the lab has been applied to clinical practice. In addition, several highly relevant clinical trials published over the last years have resulted in the update and optimisation of clinical guidelines. A new and validated classification of severity and complications of acute pancreatitis is firmly rooted in clinical practice and has been the basis for the development of minimally invasive approaches to pancreatic necrosis. The etiopathogenic knowledge of chronic pancreatitis and other pancreatopaties, like that associated with diabetes mellitus, has developed significantly. Especially important has been the development of the field of cystic pancreatic tumours, which has been reflected in the publication of several guidelines and consensus reports over the last few years. Most research efforts have focused on pancreatic cancer, which have led and will further lead to a significant increase in the therapeutic armamentarium against this devastating disease. Finally, many newly published studies have changed the concept, causes, clinical relevance, diagnosis and treatment of exocrine pancreatic insufficiency. This new edition of Clinical Pancreatology for Practising Gastroenterologists and Surgeons has enjoyed the collaboration of the world’s leading experts in each of the areas of clinical pancreatology with the aim of facilitating gastroenterologists, surgeons, oncologists, internists, nutritionists, diabetologists, paediatricians, radiologists, pathologists and other specialists in their decision making when facing patients with pancreatic diseases in their daily clinical practice. All in all, this book supplies an indispensable update of the relevant aspects of clinical pancreatology.
Download or read book Cystic Fibrosis written by John R. Riordan and published by Cold Spring Harbor Perspective. This book was released on 2013 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: "A subject collection from Cold Spring Harbor perspectives in medicine."
Download or read book Cystic Fibrosis written by Petra Miller and published by Cavendish Square Publishing, LLC. This book was released on 2015-12-15 with total page 64 pages. Available in PDF, EPUB and Kindle. Book excerpt: Cystic Fibrosis is a fatal genetic condition that affects people physically and mentally every day. This book describes the disease and the genetic causes behind it, follows researchers on their path to scientific discovery, identifies people who have excelled despite the condition, and tracks the latest treatments and research aimed at helping those with the condition. Sidebars highlight medical breakthroughs and the people who made them.
Download or read book Cystic Fibrosis written by Prashant Mohite and published by BoD – Books on Demand. This book was released on 2021-06-09 with total page 126 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Hodson and Geddes Cystic Fibrosis written by Andrew Bush and published by CRC Press. This book was released on 2023-11-20 with total page 747 pages. Available in PDF, EPUB and Kindle. Book excerpt: Cystic Fibrosis has seen dramatic advances in treatment since the last edition, including targeted cystic fibrosis transmembrane conductance regulator (CFTR) protein modulators for most CFTR gene abnormalities. This new fifth edition is an update and expansion of the rapid clinical and scientific advances in improving prognosis, and the impact of COVID-19, all of which has transformed conventional models of care. It covers basic science, such as how detailed understanding of the biology of the CFTR gene and protein has led to novel and beneficial therapies, as well as all aspects of clinical management in high-, middle- and low-income settings and the voices of individuals with CF from across the world. It will be a useful reference for clinicians, including all levels of trainees, across the whole multidisciplinary team, scientists and students. Key Features • Follows an appealing organization of chapters, by developing fundamental knowledge of the reader before moving on to more complex or developing topics. • Presents a comprehensive, authoritative and up-to-date text, integrating fundamental science and clinical aspects of cystic fibrosis providing an attractive read for clinicians, trainee doctors and scientists. • Draws on global expertise and reflects best evidence-based practice from experts conducting cutting-edge clinical and basic science research from around the world.
Download or read book The Metabolic Molecular Bases of Inherited Disease written by Charles R. Scriver and published by New York ; Montreal : McGraw-Hill. This book was released on 2001 with total page 6338 pages. Available in PDF, EPUB and Kindle. Book excerpt: Presents clinical, biochemical, and genetic information concerning those metabolic anomalies grouped under inborn errors of metabolism.
Download or read book Genetic Diseases or Conditions written by Todd Eckdahl and published by Momentum Press. This book was released on 2016-07-08 with total page 98 pages. Available in PDF, EPUB and Kindle. Book excerpt: Cystic fibrosis (CF) is one of the most common genetic diseases, affecting about 70,000 people throughout the world, with over 1,000 new cases diagnosed each year. This book describes the symptoms of CF including lung disease, digestive problems, pancreatic insufficiency, liver disease, intestinal obstruction, and infertility. It explains how CF is caused by mutations in the CFTR gene encoding a protein ion channel that maintains the balance of salt and water in the lungs and other organs. The book presents CF as an autosomal recessive disease that can arise in families with no prior history of CF. The reader will learn about treatments and therapies for CF, including antibiotics for infections, medicines for improved digestion, respiratory therapy, and pancreatic enzyme replacement. The book describes promising new pharmaceutical discoveries that enable personalized medicine for the treatment of CF. It evaluates the prospects for curing CF through gene therapy and explains how genome editing may be used in the future to correct the CFTR gene mutations underlying CF.
