Alpha-1-antitrypsin Deficiency

Alpha-1-antitrypsin Deficiency
Author: Noor Kalsheker
Publisher: Academic Press
Total Pages: 262
Release: 2017-06-06
Genre: Science
ISBN: 0128039477

Download Alpha-1-antitrypsin Deficiency Book in PDF, Epub and Kindle

Alpha-1-antitrypsin Deficiency: Biology, Diagnosis, Clinical Significance, and Emerging Therapies is the authoritative reference on AATD, providing standards for diagnosis, monitoring, treatment and appropriate avenues of research. The book covers the disease from basic biology and epidemiology, to clinical impact, and includes the understanding of the natural history of the disease and the significant advances that have been made in the last 20 years, including the three-dimensional structure of the molecule, its broad biological activity and improved therapeutic options, including replacement therapy and gene therapy. The editors have recruited international experts in the field to contribute evidence-based chapters and insights on future developments in the understanding of this disease. Provides documentation of the variations in clinical presentation and pathology in a single reference Presents new insights by pulling together the advances in the understanding of the structure and function of alpha1-antitrypsin deficiency with the genetic variants that cause the disease Allows for easy reference for the diagnosis of AATD to lead to better therapeutics

Living with Alpha-1 Antitrypsin Deficiency (A1AD)

Living with Alpha-1 Antitrypsin Deficiency (A1AD)
Author: Samantha Bowick
Publisher: Hatherleigh Press
Total Pages: 80
Release: 2019-08-27
Genre: Health & Fitness
ISBN: 1578268109

Download Living with Alpha-1 Antitrypsin Deficiency (A1AD) Book in PDF, Epub and Kindle

BEST BOOK AWARD 2019 FINALIST - HEALTH: GENERAL (AMERICAN BOOK FEST) A knowledgeable handbook with a patient's perspective for those afflicted with the incurable disease known as Alpha-1 Antitrypsin deficiency (A1AD). Alpha-1 Antitrypsin deficiency (A1AD) is a rare genetic, incurable disease which causes the liver to not produce enough of a certain protein that protects and keeps the lungs functional. 100,000 people in the United States have A1AD and 19 million more are carriers for the disease. Since it's so rare, the information available about A1AD has been lacking especially for those suffering unknowingly with the disease. Living with Alpha-1 Antitrypsin Deficiency offers the most up-to-date and comprehensive information on this illness and includes first-hand experience from someone managing the disease. Living with Alpha-1 Antitrypsin Deficiency also includes expert advice from doctors and researchers tackling the disease, with tips on recognizing symptoms and getting the most effective help possible.

Alpha-1 Antitrypsin Deficiency

Alpha-1 Antitrypsin Deficiency
Author: Thomas Köhnlein
Publisher: UNI-MED Verlag AG
Total Pages: 106
Release: 2007
Genre: Alpha 1-antitrypsin deficiency
ISBN: 1848151152

Download Alpha-1 Antitrypsin Deficiency Book in PDF, Epub and Kindle

Syndromes: Rapid Recognition and Perioperative Implications

Syndromes: Rapid Recognition and Perioperative Implications
Author: Bruno Bissonnette
Publisher: McGraw-Hill Education / Medical
Total Pages: 988
Release: 2006-08-10
Genre: Medical
ISBN:

Download Syndromes: Rapid Recognition and Perioperative Implications Book in PDF, Epub and Kindle

Essential medical facts on over 2,000 genetic syndromes. Organized alphabetically, this book provides comprehensive medical coverage for each syndrome, from genetic basis to manifestations to related medical considerations.

Alpha-1-Antitrypsin Deficiency

Alpha-1-Antitrypsin Deficiency
Author: Pavel Strnad
Publisher: European Respiratory Society
Total Pages: 211
Release: 2019-09-01
Genre: Medical
ISBN: 1849841098

Download Alpha-1-Antitrypsin Deficiency Book in PDF, Epub and Kindle

This Monograph offers a comprehensive and up-to-date overview of AATD. It covers basic biology, genetics, laboratory diagnostics and the major organ manifestations; describes the clinical presentation of AATD in both adults and children; and features chapters on genetic counselling, patient views and future therapies. The content has been tailored to meet the needs of the physician, who takes care of lung and liver patients in daily practice, and the general practitioner, who is responsible for the medical guidance of these patients.

Alpha-1-Antitrypsin Deficiency

Alpha-1-Antitrypsin Deficiency
Author: Florie Borel
Publisher: Humana Press
Total Pages: 278
Release: 2017-08-08
Genre: Science
ISBN: 9781493971619

Download Alpha-1-Antitrypsin Deficiency Book in PDF, Epub and Kindle

This volume provides protocols that expand on the latest alpha-1-antitrypsin (AAT) research. The chapters in this book are divided in to three sections: Part I is dedicated to patient-oriented research; part II discusses animal models; and Part III focuses on in vitro studies. Written in the highly successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls. Cutting-edge and authoritative, Alpha-1 Antitrypsin Deficiency: Methods and Protocols is a valuable resource for researchers, students, and clinican-scientists interested in AAT deficiency, as well as anyone working in the fields of pulmonology and hepatology.

Practical Gastroenterology and Hepatology Board Review Toolkit

Practical Gastroenterology and Hepatology Board Review Toolkit
Author: Kenneth R. DeVault
Publisher: John Wiley & Sons
Total Pages: 680
Release: 2016-07-14
Genre: Medical
ISBN: 1118829077

Download Practical Gastroenterology and Hepatology Board Review Toolkit Book in PDF, Epub and Kindle

Packed with Board-focused hints, case studies and an onlineBoard-standard MCQ test offering CME credits, this fantastic bookcovers every gastroenterology disease and symptom you’relikely to encounter and is the perfect tool to prepare for Boardexams and certification.

Am I My Genes?

Am I My Genes?
Author: Robert L. Klitzman M.D.
Publisher: Oxford University Press
Total Pages: 376
Release: 2012-03-01
Genre: Medical
ISBN: 0190207671

Download Am I My Genes? Book in PDF, Epub and Kindle

In the fifty years since DNA was discovered, we have seen extraordinary advances. For example, genetic testing has rapidly improved the diagnosis and treatment of diseases such as Huntington's, cystic fibrosis, breast cancer, and Alzheimer's. But with this new knowledge comes difficult decisions for countless people, who wrestle with fear about whether to get tested, and if so, what to do with the results. Am I My Genes? shows how real individuals have confronted these issues in their daily lives. Robert L. Klitzman interviewed 64 people who faced Huntington's Disease, breast and ovarian cancer, or Alpha-1 antitrypsin deficiency. The book describes--often in the person's own words--how each has wrestled with the vast implications that genetics has for their lives and their families. Klitzman shows how these men and women struggle to make sense of their predicament and its causes. They confront a series of quandaries--whether to be tested; whether to disclose their genetic risks to parents, siblings, spouses, offspring, friends, doctors, insurers, employers, and schools; how to view and understand themselves and their genetics; what treatments, if any, to pursue; whether to have children, adopt, screen embryos, or abort; and whether to participate in genetic communities. In the face of these uncertainties, they have tried to understand these tests and probabilities, avoid fatalism, anxiety, despair, and discrimination, and find hope, meaning, and a sense of wholeness. Forced to wander through a wilderness of shifting sands, they chart paths that many others may eventually follow. Klitzman captures here the voices of pioneers, some of the first to encounter the personal dilemmas introduced by modern genetics. Am I My Genes? is an invaluable account of their experience, one that will become all the more common in the coming years. "An extraordinary exploration...probing the many roles and implications of genetics in our lives today.... Filled with astonishing insights, this riveting book is vital reading for us all." --Paula Zahn "Klitzman lucidly discusses the moral and psychological complexities that come in the wake of genetic testing.... An important book for anyone who has the genes for pathology, which is all of us, and I recommend it highly." --Kay Redfield Jamison, author of An Unquiet Mind "An illuminating voyage through the medical, familial and existential quandaries faced by those of us at genetic risk." --Thomas H. Murray, President and CEO, The Hastings Center

Human Pathobiochemistry

Human Pathobiochemistry
Author: Toshitaka Oohashi
Publisher: Springer
Total Pages: 349
Release: 2019-03-13
Genre: Medical
ISBN: 981132977X

Download Human Pathobiochemistry Book in PDF, Epub and Kindle

This textbook uses a case-study approach to present the core principles of biochemistry and molecular biology in the context of human disease to students who will be involved in patient care. The 29 clinical cases have been carefully selected to cover key scientific concepts and some common, and other not so common, diseases. While the principal focus is on topics relating to metabolic disease, further subjects such as connective tissue disorders, neurological disorders, auto-inflammatory disorders, infective diseases, and cancer are also addressed. Each chapter provides a specific patient report that includes the natural history, pertinent clinical laboratory data, physical findings, subsequent diagnosis, and therapy. This is followed by a comprehensive discussion of the normal biochemical processes and reactions pertaining to the case, along with the pathophysiological mechanisms of the disease. Graphical diagrams are provided in each chapter for ease of comprehension.