Blanco s Overview of Alpha 1 Antitrypsin Deficiency

Blanco s Overview of Alpha 1 Antitrypsin Deficiency
Author: Ignacio Blanco
Publsiher: Academic Press
Total Pages: 252
Release: 2017-04-28
Genre: Medical
ISBN: 9780128095416

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Blanco’s Overview of Alpha-1 Antitrypsin Deficiency: History, Biology, Pathophysiology, Related Diseases, Diagnosis, and Treatment is a robust introduction to topics associated with Alpha-1 Antitrypsin Deficiency (AATD). Included are topics ranging from the history of the disease, biology, pathophysiology, related diseases, including the two major manifestations of the disease (liver disease and lung disease), and diagnosis and treatment. The book addresses the need for the amalgamation of current and novel concepts and practices in the field of AATD. AATD is under-recognized in the medical community and, as a result, it is underdiagnosed. The book provides increased awareness and understanding of the condition to improve diagnosis rates and enhance patient care. This book is an essential tool and reference, beneficial to clinicians who screen and treat AATD patients, as well as research scientists working in the AATD field at junior and senior levels. Presents the fundamental theoretical and practical aspects of Alpha-1 Antitrypsin Deficiency (AATD) based on scientific evidence Provides evidence to show that AATD is a rarely diagnosed condition, rather than a rare condition Contains current research and future perspectives from Dr. Ignacio Blanco, a worldwide expert in the field of alpha-1 antitrypsin and lung and liver disease associated with the deficiency of this antiprotease Provides resources to current registries and patient associations

Blanco s Overview of Alpha 1 Antitrypsin Deficiency

Blanco s Overview of Alpha 1 Antitrypsin Deficiency
Author: Ignacio Blanco Olmedo
Publsiher: Unknown
Total Pages: 254
Release: 2017
Genre: Alpha 1-antitrypsin deficiency
ISBN: OCLC:1259586371

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COPD Clinical Perspectives

COPD Clinical Perspectives
Author: Ralph J. Panos
Publsiher: BoD – Books on Demand
Total Pages: 208
Release: 2014-07-16
Genre: Medical
ISBN: 9789535116240

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Chronic Obstructive Pulmonary Disease (COPD) is an increasingly recognized cause of morbidity and mortality. Over the next 10 years, deaths due to COPD are expected to increase by 30% and, by 2030, COPD is estimated to be the third leading cause of death worldwide. Research into the pathophysiology and management of COPD over the past decade has progressed immensely with greater understanding of the global burden of COPD, its pathophysiology, better understanding of the multisystemic manifestations of COPD, and, most importantly, novel and more effective therapeutic strategies. This volume brings together an international group of experts in COPD to provide in depth reviews of clinical perspectives into COPD. Topics range from the diagnosis of airflow limitation by spirometry; distinguishing COPD from another common obstructive lung disease, asthma; alpha-1-antitrypsin deficiency and opportunities to diagnose this most common hereditary cause of COPD and as a paradigm for the development of novel therapeutics; the overlap syndrome - the concurrence of two epidemic disorders: COPD and obstructive sleep apnea; and pulmonary rehabilitation, one of the most effective treatments for COPD.

Rare Diseases Epidemiology Update and Overview

Rare Diseases Epidemiology  Update and Overview
Author: Manuel Posada de la Paz,Domenica Taruscio,Stephen C. Groft
Publsiher: Springer
Total Pages: 667
Release: 2017-12-06
Genre: Medical
ISBN: 9783319671444

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The fields of rare diseases research and orphan products development continue to expand with more products in research and development status. In recent years, the role of the patient advocacy groups has evolved into a research partner with the academic research community and the bio-pharmaceutical industry. Unique approaches to research and development require epidemiological data not previously available to assist in protocol study design and patient recruitment for clinical trials required by regulatory agencies prior to approval for access by patents and practicing physicians.

Alpha 1 antitrypsin Deficiency

Alpha 1 antitrypsin Deficiency
Author: Noor Kalsheker,Robert Andrew Stockley
Publsiher: Academic Press
Total Pages: 262
Release: 2017-06-06
Genre: Science
ISBN: 9780128039472

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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

Clinical Epidemiology of Chronic Liver Diseases

Clinical Epidemiology of Chronic Liver Diseases
Author: Robert J. Wong,Robert G. Gish
Publsiher: Springer
Total Pages: 349
Release: 2018-10-24
Genre: Medical
ISBN: 9783319943558

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This book emphasizes the clinical epidemiology of chronic liver diseases with a specific focus on the methodology of the discussed studies. The whole spectrum of liver diseases is covered, from chronic hepatitis B and C, to hepatocellular carcinoma, alcoholic and non-alcoholic fatty liver diseases and autoimmune and cholestatic liver diseases. Readers will find the most up-to-date information on clinical epidemiology of hepatology, and will also be able to learn about important methodology and biostatistics information. Each chapter contains a summary table at the end of each chapter that highlights the most relevant landmark studies, their main outcomes and the unique features of the methodology. The book will appeal to both practicing clinicians as well as clinical research investigators. In addition, this would likely be of interest to medical school or public health school students to learn about hepatology epidemiology, but also some specific fundamentals of clinical research and clinical epidemiology.

Alpha 1 Antitrypsin

Alpha 1 Antitrypsin
Author: Adam Wanner,Robert A. Sandhaus
Publsiher: Humana Press
Total Pages: 173
Release: 2015-12-18
Genre: Medical
ISBN: 9783319234496

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This book offers a comprehensive overview of alpha-1 antitrypsin deficiency, an inherited condition that leads to lung disease in adults and liver disease in adults and children and is associated with chronic obstructive lung disease in adults. While it is a rare condition, the mechanisms underlying the clinical manifestations of this deficiency have been largely clarified. Treatment, however, is available only for the lung disease that arises from the condition, thus necessitating continued research into new and alternative therapeutic solutions. The book discusses the biology of alpha-1 antitrypsin, protein misfolding and polymerization, and diagnosis and treatment of alpha-1 antitrypsin deficiency and its associated diseases. It concludes with a discussion of rare disorders linked to alpha-1 antitrypsin deficiency and the role of healthcare organizations in the treatment of these diseases. Written for pulmonary clinicians and scientists, Alpha-1 Antitrypsin: Role in Health and Disease is a valuable resource that sheds light on this rare disease.

Liver Elastography

Liver Elastography
Author: Sebastian Mueller
Publsiher: Springer Nature
Total Pages: 737
Release: 2020-06-02
Genre: Medical
ISBN: 9783030405427

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This is the first comprehensive book on the new elastographic techniques discussing the early assessment of liver fibrosis. The book covers all aspects of measuring liver stiffness starting from the methodology, the molecular basis of liver stiffness elevation up to current clinical algorithms and interpretation. Future directions and novel implications that go beyond diagnosis but are relevant for understanding of liver cirrhosis per se are also discussed in detail. Liver Elastography, is an essential companion for hepatologists and gastroenterologists that provides an overview of its basic principles and gives a detailed account of how to use elastrography in clinical practice.

Alpha 1 Antitrypsin Deficiency

Alpha 1 Antitrypsin Deficiency
Author: Pavel Strnad,Mark L. Brantly,Robert Bals
Publsiher: European Respiratory Society
Total Pages: 208
Release: 2019-09-01
Genre: Medical
ISBN: 9781849841092

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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.

Muscle Gene Therapy

Muscle Gene Therapy
Author: Dongsheng Duan,Jerry R. Mendell
Publsiher: Springer
Total Pages: 811
Release: 2019-03-30
Genre: Medical
ISBN: 9783030030957

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About 7 million people worldwide are suffering from various inherited neuromuscular diseases. Gene therapy brings the hope of treating these diseases at their genetic roots. Muscle Gene Therapy is the only book dedicated to this topic. The first edition was published in 2010 when the field was just about to enter its prime time. The progress made since then has been unprecedented. The number of diseases that have been targeted by gene therapy has increased tremendously. The gene therapy toolbox is expanded greatly with many creative novel strategies (such as genome editing and therapy with disease-modifying genes). Most importantly, clinical benefits have begun to emerge in human patients. To reflect rapid advances in the field, we have compiled the second edition of Muscle Gene Therapy with contributions from experts that have conducted gene therapy studies either in animal models and/or in human patients. The new edition offers a much needed, up-to-date overview and perspective on the foundation and current status of neuromuscular disease gene therapy. It provides a framework to the development and regulatory approval of muscle gene therapy drugs in the upcoming years. This book is a must-have for anyone who is interested in neuromuscular disease gene therapy including those in the research arena (established investigators and trainees in the fields of clinical practice, veterinary medicine and basic biomedical sciences), funding and regulatory agencies, and patient community.

Rare and Orphan Lung Diseases An Issue of Clinics in Chest Medicine E Book

Rare and Orphan Lung Diseases  An Issue of Clinics in Chest Medicine  E Book
Author: Robert Kotloff,Francis X. McCormack
Publsiher: Elsevier Health Sciences
Total Pages: 409
Release: 2016-08-16
Genre: Medical
ISBN: 9780323462747

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Drs. Robert Kotloff and Francis McCormack have assembled an expert team of authors on the topic of Rare and Orphan Lung Diseases. Articles include: Lymphangioleiomyomatosis, Pulmonary Lymphangiomatosis, Langerhans Cell Histiocytosis and other Histiocytic Diseases of the Lung, Pulmonary Alveolar Proteinosis, Pulmonary Alveolar Microlithiasis, Primary Ciliary Dyskinesia, Birt-Hogg-Dube Syndrome, Hermansky-Pudlak Syndrome, Hereditary Hemorrhagic Telangiectasia, Non-CF Bronchiectasis, Eosinophilic Lung Diseases, Benign Metastasizing Leiomyomata, and more!

Clinical Genetics in Nursing Practice

Clinical Genetics in Nursing Practice
Author: Felissa R. Lashley, PhD, RN, FABMGG
Publsiher: Springer Publishing Company
Total Pages: 584
Release: 2005-04-15
Genre: Medical
ISBN: 0826123678

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Designated a Doody's Core Title! The third edition of this award-winning text provides new and updated knowledge about genetics issues relevant to nursing practice. Read in sequence or used as a reference, this is a comprehensive overview of how genetics affetcs the care that nurses provide. In addition to a summary of basic human genetics and discussion of the Human Genome Project, this new edition includes the latest research findings and implications about inheritance, major genetic disorders (cytogenetics or chromosomal, inherited biochemical, and congenital anomalies), and genetics in twin studies. A consideration of the ethical impact of genetics on society and future generations, as well as information on assisted reproduction round out the overview. Includes over 100 illustrations and photos of specific genetic disorders; tables and figures on the distribution of disease; and an extensive appendix listing associations, organizations, and websites relevant to genetics.

Liver Disease in Children

Liver Disease in Children
Author: Frederick J. Suchy,Ronald J. Sokol,William F. Balistreri
Publsiher: Cambridge University Press
Total Pages: 752
Release: 2014-02-20
Genre: Medical
ISBN: 9781107729094

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The fourth edition of this authoritative text covers every aspect of liver disease affecting infants, children and adolescents. As in the previous editions, it offers an integrative approach to the science and clinical practice of pediatric hepatology and charts the substantial progress in understanding and treating these diseases. All of the chapters are written by international experts and address the unique pathophysiology, manifestations and management of these disorders. This edition of the landmark text features extended coverage of viral hepatitis, metabolic liver disease, fatty liver disease and liver transplantation, including a new chapter on post-transplant care and outcomes. All of the chapters have been updated to reflect changing epidemiology and recent advances in molecular medicine and genomics. With the continued evolution of pediatric hepatology as a discipline, this text remains an essential reference for all physicians involved in the care of children with liver disease.

Muscle Gene Therapy

Muscle Gene Therapy
Author: Dongsheng Duan
Publsiher: Springer Science & Business Media
Total Pages: 275
Release: 2009-11-26
Genre: Medical
ISBN: 9781441912077

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Muscle disease represents an important health threat to the general population. There is essentially no cure. Gene therapy holds great promise to correct the genetic defects and eventually achieve full recovery in these diseases. Significant progresses have been made in the field of muscle gene therapy over the last few years. The development of novel gene delivery vectors has substantially enhanced specificity and efficiency of muscle gene delivery. The new knowledge on the immune response to viral vectors has added new insight in overcoming the immune obstacles. Most importantly, the field has finally moved from small experimental animal models to human patients. This book will bring together the leaders in the field of muscle gene transfer to provide an updated overview on the progress of muscle gene therapy. It will also highlight important clinical applications of muscle gene therapy.

Consultations in Liver Disease An Issue of Clinics in Liver Disease E Book

Consultations in Liver Disease  An Issue of Clinics in Liver Disease  E Book
Author: Steven L. Flamm
Publsiher: Elsevier Health Sciences
Total Pages: 135
Release: 2017-10-11
Genre: Medical
ISBN: 9780323548861

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Consultations of Gastroenterology practitioners are frequently sought for many complex issues relating to acute and chronic liver disease. Many of the disease entities are uncommon and complicated in scope. Liver disease may occur in the setting of other chronic medical conditions and involve other organ systems, with recommendations for diagnostic strategies and therapeutic approaches somewhat challenging. Serious consequences are often the rule with misdiagnosed or inadequately treated liver disease. Dr. Flamm has provided a framework for approaching consultation for common liver-related problems for the gastroenterology practitioner. Articles are devoted to the following topics: Common Findings and Interpretation for the Clinician; Genetic Testing in Liver Disease: What to Order and When; Acute Liver Failure; Liver Disease in Oncology Patients; Primary Sclerosing Cholangitis: What the Gastroenterologist/Hepatologist Needs to Know; An Update on the Treatment and Follow up of Patients with PBC; Wilson’s Disease: Diagnosis, Treatment, and Follow Up; Follow Up of the Post-Liver Transplantation Patient: A Primer for the Practicing Gastroenterologist; Liver Disease in Patients on Total Parenteral Nutrition; Treatment Strategies in NAFLD: What’s Coming; Resistance Testing in Chronic HCV; and HCV genotype 3: Treatment Approach and Natural History.