Download or read book The Identification of the CF Cystic Fibrosis Gene written by Lap-Chee Tsui and published by Springer Science & Business Media. This book was released on 2013-11-11 with total page 401 pages. Available in PDF, EPUB and Kindle. Book excerpt: Proceedings of an international workshop held in Sestri Levante (Genoa), Italy, April 9--11, 1990
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 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.
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 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 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 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 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 Molecular Basis and Gene Therapies of Cystic Fibrosis written by John Engelhardt and published by MDPI. This book was released on 2020-12-11 with total page 208 pages. Available in PDF, EPUB and Kindle. Book excerpt: Summary of Genes. Thirty years ago, the gene responsible for cystic fibrosis (CF), a recessive genetic disease caused by mutations in the cystic fibrosis transmembrane conductance regulator gene, was identified. This progress has considerably changed our understanding of the pathophysiology of CF and has paved the way for the development of novel and specific therapies for the disease. The CFTR gene contains 27 exons and is characterized by a frequent three base pair deletion of the p.Phe508del. As a result of collaborative work, today more than 2000 mutations have been reported in the gene, and their impact on protein function is now more evident and useful in designing new strategies to correct the gene defect. The field of gene therapy, as illustrated by Ziying Yan in this book, has worked on identifying an efficient vector system for the delivery of the wild-type CFTR gene to the lung. At the same time, animal models have been developed in mice, rats, rabbits, zebrafish, ferrets, and pigs to establish the efficacity of gene delivery. These animals are also of the utmost importance in testing new molecules as modulators or correctors to improve the CFTR lung function. During the last three decades, the epidemiology of CF has dramatically changed, as today cystic fibrosis is now a chronic adult pulmonary disease.
Download or read book Cystic Fibrosis written by Melissa Abramovitz and published by Greenhaven Publishing LLC. This book was released on 2012-11-16 with total page 114 pages. Available in PDF, EPUB and Kindle. Book excerpt: Author Melissa Abramovitz discusses the causes of cystic fibrosis, the history of its discovery, and current and future treatment options. Though a diagnosis of cystic fibrosis remains devastating in today's world, Abramovitz explains that revelations about the disease's genetic foundations may lead to medical breakthroughs in the near future. First-person accounts and inspirational quotes from individuals with cystic fibrosis will educate and inspire readers.
Download or read book Diagnostic Molecular Pathology in Practice written by Iris Schrijver and published by Springer Science & Business Media. This book was released on 2011-09-09 with total page 329 pages. Available in PDF, EPUB and Kindle. Book excerpt: This entirely case-based book covers a broad cross-section of the practical issues frequently encountered in the day-to-day activities of a molecular genetic pathologist. The book is divided into four sections on the principal areas addressed in molecular genetic pathology (MGP): inherited diseases, hematopathology, solid tumors, and infectious diseases. The topics covered by the cases in each section include test selection, qualitative and quantitative laboratory techniques, test interpretation, prognostic and therapeutic considerations, ethical considerations, technical troubleshooting, and result reporting. This book will be ideal for trainees in MGP and clinical molecular genetics who require a practice-based preparation for board examinations. It will also be very useful for residents and fellows in medical specialties to which MGP is pertinent, and for practicing pathologists who want to learn more about the current practice of molecular diagnostics.
Download or read book Metabolic Diseases written by E. Gilbert-Barness and published by IOS Press. This book was released on 2017-01-06 with total page 960 pages. Available in PDF, EPUB and Kindle. Book excerpt: The 2nd Edition of Metabolic Diseases provides readers with a completely updated description of the Foundations of Clinical Management, Genetics, and Pathology. A distinguished group of 31 expert authors has contributed 25 chapters as a tribute to Enid Gilbert-Barness and the late Lewis Barness--- both pioneers in this topic. Enid’s unique perspectives on the pathology of genetic disorders and Lew’s unsurpassed knowledge of metabolism integrated with nutrition have inspired the contributors to write interdisciplinary descriptions of generally rare, and always challenging, hereditary metabolic disorders. Discussions of these interesting genetic disorders are organized in the perspective of molecular abnormalities leading to morphologic disturbances with distinct pathology and clinical manifestations. The book emphasizes recent advances such as development of improved diagnostic methods and discovery of new, more effective therapies for many of the diseases. It includes optimal strategies for diagnosis and information on access to specialized laboratories for specific testing. The target audience is a wide variety of clinicians, including pediatricians, neonatologists, obstetricians, maternal-fetal specialists, internists, pathologists, geneticists, and laboratorians engaged in prenatal and/or neonatal screening. In addition, all scientists and health science professionals interested in metabolic diseases will find the comprehensive, integrated chapters informative on the latest discoveries. It is our hope that the 2nd Edition will open new avenues and vistas for our readers and that they will share with us the interest, excitement and passion of the research into all these challenging disorders.
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 Genetic Testing for Cystic Fibrosis written by Cynthia B. Love and published by . This book was released on 1997 with total page 84 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Molecular Diagnosis of Genetic Diseases written by Rob Elles and published by Springer Science & Business Media. This book was released on 2008-02-01 with total page 392 pages. Available in PDF, EPUB and Kindle. Book excerpt: This completely revised and updated second edition to integrates the many new technologies and insights now available for the diagnosis of genetic diseases. The authors use such methodologies as PCR optimization dosage analysis, mutation scanning, and quantitative fluorescent PCR for aneuploidy analysis, Neurofibromatosis type 1, and Duchenne muscular dystrophy. These largely generic methodologies may be adapted to most genetic conditions for which a molecular diagnosis is relevant, no matter how frequent or rare their incidence. Molecular Diagnosis of Genetic Diseases, Second Edition offers diagnostic molecular geneticists a unique opportunity to sharpen their scientific skills in the design of assays, their execution, and their interpretation.
Download or read book Genetics of Human Infertility written by P.H. Vogt and published by Karger Medical and Scientific Publishers. This book was released on 2017-09-12 with total page 190 pages. Available in PDF, EPUB and Kindle. Book excerpt: Infertility affects more than one in ten couples worldwide and is related to highly heterogeneous pathologies sometimes only discernible in the germ line. Its complex etiology often, but not always, includes genetic factors besides anatomical defects, immunological interference, and environmental aspects. Nearly 30% of infertility cases are probably caused only by genetic defects. Thereby experimental animal knockout models convincingly show that infertility can be caused by single or multiple gene defects. Translating those basic research findings into clinical studies is challenging, leaving genetic causes for the vast majority of infertility patients unexplained. Nevertheless, a large number of candidate genes have been revealed by sophisticated molecular methods. This book provides a comprehensive overview on the subject of infertility written by the leading authorities in this field. It covers topics including basic biological, cytological, and molecular studies, as well as common and uncommon syndromes. It is a must-read for human geneticists, endocrinologists, epidemiologists, zoologists, and counsellors in human genetics, infertility, and assisted reproduction.
Download or read book Facts about Cystic Fibrosis written by and published by . This book was released on 1995 with total page 6 pages. Available in PDF, EPUB and Kindle. Book excerpt:
