Blanco s Overview of Alpha 1 Antitrypsin Deficiency

• Author : Ignacio Blanco
• Publisher : Academic Press
• Release : 28 April 2017

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

• Author : Ignacio Blanco Olmedo
• Publisher : Unknown
• Release : 05 June 2023

• Author : Manuel Posada de la Paz,Domenica Taruscio,Stephen C. Groft
• Publisher : Springer
• Release : 06 December 2017

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

• Author : Robert J. Wong,Robert G. Gish
• Publisher : Springer
• Release : 24 October 2018

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

• Author : Pavel Strnad,Mark L. Brantly,Robert Bals
• Publisher : European Respiratory Society
• Release : 01 September 2019

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

• Author : Dongsheng Duan,Jerry R. Mendell
• Publisher : Springer
• Release : 30 March 2019

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

• Author : Robert Kotloff,Francis X. McCormack
• Publisher : Elsevier Health Sciences
• Release : 16 August 2016

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!

• Author : Felissa R. Lashley, PhD, RN, FABMGG
• Publisher : Springer Publishing Company
• Release : 15 April 2005

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,

• Author : Sebastian Mueller
• Publisher : Springer Nature
• Release : 02 June 2020

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

• Author : Anonim
• Publisher : Unknown
• Release : 05 June 1993

• Author : Tim Cross
• Publisher : Springer Nature
• Release : 04 November 2022

The new edition of this pocket guide has been fully updated to cover the common manifestations of liver disease, how to treat them and when to refer patients on to specialist centers. New chapters on Acute Liver Failure, Nutrition and Congenital Heart Disease have been added to reflect the key issues in management of liver diseases. The book outlines the common clinical liver diseases such as fatty liver disease and viral hepatitis, among others, and their current up to date

• Author : Steven L. Flamm
• Publisher : Elsevier Health Sciences
• Release : 11 October 2017

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

• Author : Howard P. Levy
• Publisher : Elsevier Health Sciences
• Release : 08 October 2019

This issue of Medical Clinics of North America, guest edited by Dr. Howard P. Levy, is devoted to Genetics and Precision Medicine. Articles in this important issue include: Family History in Genetics and Precision Medicine; Genetic Testing: Who, What, When and Why; Test Result Disclosure and When to Consult a Geneticist or Genetic Counselor; Patient Engagement to Inform a Large-scale Population Sequencing Program; Pharmacogenetics: Prescribing Precisely; DNA Testing for Early Cancer Diagnosis; Breast Cancer: BRCA and Beyond; Colon Cancer and

• Author : John A. Pederson
• Publisher : Nova Publishers
• Release : 05 June 2023

Fibromyalgia syndrome is a common and chronic disorder characterised by widespread muscle pain, fatigue, and multiple tender points. The word fibromyalgia comes from the Latin term for fibrous tissue (fibro) and the Greek ones for muscle (myo) and pain (algia). Tender points are specific places on the body -- on the neck, shoulders, back, hips, and upper and lower extremities -- where people with fibromyalgia feel pain in response to slight pressure. Although fibromyalgia is often considered an arthritis-related condition,

• Author : Antonio Anzueto,Yvonne Heijdra,John R. Hurst
• Publisher : European Respiratory Society
• Release : 01 September 2015

Edited by Antonio Anzueto, Yvonne Heijdra and John R. Hurst COPD is one of the most common diseases worldwide and is projected to be the third leading cause of death by 2020. But that does not mean it is easy to understand or manage. In everyday practice, pulmonologists face areas of controversy in COPD, for which evidence-based medicine is often unavailable. This ERS Monograph considers where the current controversies in COPD lie, discussing areas such as screening, premature birth, asthma–COPD