Book Description
Proceedings of an international workshop held in Sestri Levante (Genoa), Italy, April 9--11, 1990
Author : Lap-Chee Tsui
Publisher : Springer Science & Business Media
Page : 401 pages
File Size : 46,21 MB
Release : 2013-11-11
Category : Science
ISBN : 1468459341
Proceedings of an international workshop held in Sestri Levante (Genoa), Italy, April 9--11, 1990
Author : Karen Hopkin
Publisher : Univ. Press of Mississippi
Page : 144 pages
File Size : 28,11 MB
Release : 2010-02-11
Category : Health & Fitness
ISBN : 1604739525
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.
Author : Dennis Wat
Publisher : BoD – Books on Demand
Page : 394 pages
File Size : 47,56 MB
Release : 2015-08-24
Category : Medical
ISBN : 9535121529
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.
Author : Melissa Abramovitz
Publisher : Greenhaven Publishing LLC
Page : 114 pages
File Size : 48,1 MB
Release : 2012-11-16
Category : Young Adult Nonfiction
ISBN : 1420510916
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.
Author : John Engelhardt
Publisher : MDPI
Page : 208 pages
File Size : 28,64 MB
Release : 2020-12-11
Category : Medical
ISBN : 303943683X
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.
Author : Rob Elles
Publisher : Springer Science & Business Media
Page : 392 pages
File Size : 14,56 MB
Release : 2008-02-01
Category : Medical
ISBN : 1592594328
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.
Author : David M. Orenstein
Publisher : Lippincott Williams & Wilkins
Page : 788 pages
File Size : 24,16 MB
Release : 2012-03-28
Category : Medical
ISBN : 1451154380
This one-of-a-kind guide offers easy-to-understand explanations, advice, and management options for patients or parents of patients with cystic fibrosis. The book explains the disease process, outlines the fundamentals of diagnosing and screening, and addresses the challenges of treatment for those living with CF. As one reviewer said, this book “is the only complete answer book for everyone living with the disease. It is an indispensable resource for families of children with CF, adolescent and adult patients, and physicians, nurses, respiratory therapists, and social workers involved in the care of CF patients.”
Author :
Publisher : Office of Technology Assessment
Page : 324 pages
File Size : 19,80 MB
Release : 1992
Category : Medical
ISBN :
Author : David M. Orenstein
Publisher : Lippincott Williams & Wilkins
Page : 504 pages
File Size : 22,30 MB
Release : 2004
Category : Medical
ISBN : 9780781741521
Explains the how and why behind the disease process, outlines the fundamentals of diagnosis and screening, and addresses the challenges of treatment for those living with CF.
Author : Charles R. Scriver
Publisher : New York ; Montreal : McGraw-Hill
Page : 6338 pages
File Size : 13,33 MB
Release : 2001
Category : Genetic disorders
ISBN : 9780071363198
Presents clinical, biochemical, and genetic information concerning those metabolic anomalies grouped under inborn errors of metabolism.