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Alpha-1 Antitrypsin Mutation Analysis: A Comprehensive Overview
Author: Dr. Eleanor Vance, PhD, FACMG
Dr. Eleanor Vance holds a PhD in Human Genetics and is a Fellow of the American College of Medical Genetics and Genomics (FACMG). She has over 20 years of experience in clinical genetics, with a specific focus on the diagnosis and management of inherited respiratory diseases, including those related to alpha-1 antitrypsin (AAT) deficiency. Her research has extensively involved alpha-1 antitrypsin mutation analysis, leading to publications in peer-reviewed journals and presentations at international conferences.
Publisher: Oxford University Press (OUP)
Oxford University Press is a globally recognized academic publisher with a long-standing reputation for publishing high-quality research across various scientific disciplines, including genetics and medicine. Their authority on topics related to alpha-1 antitrypsin mutation analysis is solidified by their publication of numerous peer-reviewed journals featuring research in this area, along with textbooks and other scholarly works relevant to genetic disorders and their clinical management.
Editor: Dr. Robert Jones, MD, FRCP
Dr. Robert Jones is a consultant respiratory physician and holds a Fellowship of the Royal College of Physicians (FRCP). His expertise in respiratory diseases, particularly those linked to genetic factors, provides significant credibility to the article. His experience in clinical practice and research related to AAT deficiency ensures the accuracy and clinical relevance of the information presented.
1. Historical Context of Alpha-1 Antitrypsin Mutation Analysis
The understanding and analysis of alpha-1 antitrypsin (AAT) mutations have evolved significantly over the past several decades. The discovery of AAT deficiency as a cause of emphysema was a landmark achievement in the field of respiratory medicine. Initially, phenotypic characterization through serum AAT levels was the primary method for diagnosing AAT deficiency. However, this approach had limitations, as it could not identify all individuals with functionally deficient AAT variants.
The development of advanced techniques for alpha-1 antitrypsin mutation analysis revolutionized the field. Early methods included isoelectric focusing (IEF), which allowed for the separation of AAT variants based on their charge differences. While IEF offered improved accuracy over simple serum level measurements, it still had limitations in identifying all possible mutations.
The advent of molecular techniques, particularly DNA sequencing, marked a significant turning point. Direct sequencing of the SERPINA1 gene, which encodes AAT, allowed for the precise identification of specific mutations. This allowed for a more accurate diagnosis of AAT deficiency and a better understanding of genotype-phenotype correlations. Current alpha-1 antitrypsin mutation analysis utilizes highly sensitive and specific methods such as polymerase chain reaction (PCR) followed by Sanger sequencing or next-generation sequencing (NGS). These advancements have significantly improved diagnostic accuracy and enabled the identification of a wider range of AAT mutations.
2. Current Relevance of Alpha-1 Antitrypsin Mutation Analysis
Despite the progress made in understanding AAT deficiency, alpha-1 antitrypsin mutation analysis remains critically important for several reasons:
Early Diagnosis: Early diagnosis of AAT deficiency is crucial for implementing preventative measures and interventions to slow disease progression. Identifying individuals with at-risk genotypes allows for proactive lifestyle modifications, such as smoking cessation and avoidance of environmental irritants.
Personalized Medicine: The specific AAT mutation identified guides treatment strategies. Individuals with severe deficiency may benefit from augmentation therapy with intravenous AAT, while others may require tailored management approaches based on their specific genotype and clinical presentation.
Genetic Counseling: Alpha-1 antitrypsin mutation analysis is essential for genetic counseling. Understanding the inheritance pattern and the risk of transmitting AAT deficiency to offspring allows for informed reproductive decisions. Carrier screening and prenatal testing are important options for families with a history of AAT deficiency.
Research and Development: Continued research into AAT mutations is vital for developing novel therapies and improving management strategies. Understanding the functional consequences of specific mutations helps researchers develop targeted therapies that address the underlying mechanisms of disease. This research often relies heavily on accurate and comprehensive alpha-1 antitrypsin mutation analysis.
Improved Risk Stratification: Knowing the specific genotype allows for better risk stratification for individuals with AAT deficiency. Some mutations are associated with more severe disease phenotypes than others, allowing clinicians to tailor surveillance and treatment accordingly.
3. Methods of Alpha-1 Antitrypsin Mutation Analysis
Several methods are currently employed for alpha-1 antitrypsin mutation analysis:
Genotyping using PCR and Sanger sequencing: This is a widely used and well-established method that allows for the detection of known AAT mutations. It involves amplifying specific regions of the SERPINA1 gene using PCR and then sequencing the amplified product to identify any mutations.
Next-Generation Sequencing (NGS): NGS offers a high-throughput approach for identifying a broader range of mutations, including novel and rare variants. It allows for the simultaneous analysis of multiple genes, making it a powerful tool for comprehensive genetic testing.
Isoelectric Focusing (IEF): While less commonly used now due to the availability of more precise molecular methods, IEF still plays a role in confirming the presence of specific AAT variants.
The choice of method depends on factors such as the clinical context, the availability of resources, and the desired level of detail in the analysis.
4. Interpreting Results of Alpha-1 Antitrypsin Mutation Analysis
Interpreting the results of alpha-1 antitrypsin mutation analysis requires expertise. The presence of a specific mutation does not always directly translate into a particular clinical phenotype. Several factors influence the severity of disease, including:
The specific mutation: Different mutations have varying degrees of functional impairment.
Genetic modifiers: Other genes may influence the expression and function of AAT.
Environmental factors: Exposure to environmental irritants such as cigarette smoke can significantly worsen the disease course.
Individual variation: Even with the same genotype, individuals may experience different clinical presentations due to individual variability in response to the disease.
5. Clinical Significance and Management of Alpha-1 Antitrypsin Deficiency
Alpha-1 antitrypsin mutation analysis is crucial for guiding clinical management of AAT deficiency. Based on the identified genotype and clinical presentation, management strategies may include:
Lifestyle modifications: Smoking cessation, avoidance of environmental irritants, and regular exercise are crucial for slowing disease progression.
Augmentation therapy: Intravenous administration of AAT can help to supplement deficient levels of the protein and reduce disease severity.
Pulmonary rehabilitation: This involves a structured program of exercise and education to improve respiratory function and quality of life.
Lung transplantation: In severe cases of lung disease, lung transplantation may be considered as a last resort.
Conclusion
Alpha-1 antitrypsin mutation analysis has evolved significantly from phenotypic characterization to precise molecular techniques. The ability to identify specific mutations is crucial for early diagnosis, personalized management, genetic counseling, and ongoing research. Advanced techniques like NGS continue to improve our understanding of genotype-phenotype correlations and inform the development of novel therapeutic strategies. Continued advances in alpha-1 antitrypsin mutation analysis are essential for improving the lives of individuals affected by this important genetic disorder.
FAQs
1. What is alpha-1 antitrypsin deficiency? Alpha-1 antitrypsin deficiency is a genetic disorder affecting the lungs and liver, caused by mutations in the SERPINA1 gene, resulting in a deficiency of alpha-1 antitrypsin, a protein that protects the lungs.
2. How is alpha-1 antitrypsin deficiency inherited? It's inherited in an autosomal codominant manner, meaning a person needs only one copy of a mutated gene to be affected, although the severity varies based on the specific mutations.
3. What are the symptoms of alpha-1 antitrypsin deficiency? Symptoms can include shortness of breath, wheezing, chronic obstructive pulmonary disease (COPD), emphysema, and liver disease.
4. Who should undergo alpha-1 antitrypsin mutation analysis? Individuals with a family history of AAT deficiency, unexplained lung disease, or liver disease, especially those with early-onset COPD or emphysema, should consider testing.
5. How accurate is alpha-1 antitrypsin mutation analysis? Modern molecular methods, particularly NGS, offer very high accuracy in detecting AAT mutations.
6. What are the limitations of alpha-1 antitrypsin mutation analysis? It may not fully predict the severity of the disease, as environmental and other genetic factors also play a role.
7. Is there a cure for alpha-1 antitrypsin deficiency? There is currently no cure, but treatments such as augmentation therapy and pulmonary rehabilitation can help manage symptoms and improve quality of life.
8. What is the cost of alpha-1 antitrypsin mutation analysis? The cost varies depending on the testing method and the healthcare system.
9. Where can I find more information about alpha-1 antitrypsin deficiency? Reliable information can be found through the Alpha-1 Foundation and the National Institutes of Health (NIH).
Related Articles
1. "Genotype-Phenotype Correlations in Alpha-1 Antitrypsin Deficiency: A Comprehensive Review": This review article explores the diverse range of mutations and their clinical manifestations.
2. "Advances in Alpha-1 Antitrypsin Augmentation Therapy: A Focus on Novel Delivery Systems": This article discusses the latest developments in AAT replacement therapy.
3. "The Role of Genetic Modifiers in Alpha-1 Antitrypsin Deficiency Severity": Focuses on genes that influence disease progression.
4. "Prenatal Diagnosis of Alpha-1 Antitrypsin Deficiency: Current Practices and Future Directions": Explores options for early diagnosis in utero.
5. "Next-Generation Sequencing for Comprehensive Alpha-1 Antitrypsin Mutation Analysis": Details the use of NGS for improved diagnostic accuracy.
6. "Long-Term Outcomes of Augmentation Therapy in Alpha-1 Antitrypsin Deficiency": Studies the long-term effectiveness of AAT replacement therapy.
7. "The Impact of Smoking on Alpha-1 Antitrypsin Deficiency Progression": Analyzes the role of environmental factors in disease progression.
8. "Management of Liver Disease in Alpha-1 Antitrypsin Deficiency": Discusses strategies for managing liver complications.
9. "Ethical Considerations in Genetic Testing for Alpha-1 Antitrypsin Deficiency": Examines the ethical implications of genetic testing for AAT deficiency.
| alpha 1 antitrypsin mutation analysis: Liver Elastography Sebastian Mueller, 2020-06-02 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 mutation analysis: Human Pathobiochemistry Toshitaka Oohashi, Hirokazu Tsukahara, Francesco Ramirez, Chad L. Barber, Fumio Otsuka, 2019-03-13 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. |
| alpha 1 antitrypsin mutation analysis: Liver Disease in Children Frederick J. Suchy, Ronald J. Sokol, William F. Balistreri, 2007-05-07 Completely revised new edition of the premier reference on pediatric liver disease. Liver Disease in Children, 3rd Edition provides authoritative coverage of every aspect of liver disease affecting infants, children, and adolescents. The book offers an integrated approach to the science and clinical practice of pediatric hepatology and charts the substantial progress in understanding and treating these diseases. Chapters are written by international experts and address the unique pathophysiology, manifestations, and management of these disorders in the pediatric population. The third edition has been thoroughly updated and features new contributions on liver development, cholestatic and autoimmune disorders, fatty liver disease, and inborn errors of metabolism. 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. |
| alpha 1 antitrypsin mutation analysis: Laboratory Screening and Diagnostic Evaluation Kelly Small Casler, DNP, APRN, FNP-BC, CHSE, Kate Sustersic Gawlik, DNP, APRN-CNP, FAANP, 2022-04-25 [the authors] did a masterful job of creating and editing this gold standard book that should be used by all clinicians and incorporated into all nursing and health sciences curriculums. -Bernadette Mazurek Melnyk, PhD, APRN-CNP, FNAP, FAANP, FAAN Vice President for Health Promotion University Chief Wellness Officer Dean and Helene Fuld Health Trust Professor of Evidence-Based Practice, College of Nursing Professor of Pediatrics & Psychiatry, College of Medicine Executive Director, the Helene Fuld Health Trust National Institute for EBP The Ohio State University This is the only book to explicitly guide clinicians through an evidence-based approach to ordering and interpreting laboratory tests. With over 160 commonly ordered tests, this book is designed to foster more accurate clinical decision-making to attain the highest level of patient care. This book summarizes more than 3000 pieces of evidence and incorporates clinical expertise and decision-making on the ordering and interpretation of tests. To promote ease of use, a convenient table maps labs and their corresponding chapter numbers to the relevant body system to promote ease of use. Each laboratory test is presented in a consistent format with information on physiology, indications (screening, diagnosis, and monitoring), algorithms, test interpretation and follow-up testing, patient education, and related diagnoses. Additional valuable features include clinical pearls that highlight common pitfalls and gaps in reasoning, and a cost-benefit analysis. This book also includes CPT and ICD-10 codes, charts and tables for clarification, and references for further study. Key Features: Delivers a strong, evidence-based approach to ordering and interpreting over 160 laboratory tests Promotes accurate clinical decision-making toward achieving the Triple Aim Includes abundant clinical pearls highlighting common pitfalls and gaps in reasoning Provides cost-benefit analysis and discussion of laboratory testing within a high-value healthcare culture Includes 175 supplemental case examples and 200 self-assessment questions to facilitate instruction and learning Includes more than 3000 pieces of evidence from interprofessional resources |
| alpha 1 antitrypsin mutation analysis: Kendig and Chernick's Disorders of the Respiratory Tract in Children E-Book Robert W. Wilmott, Thomas F. Boat, Andrew Bush, Victor Chernick, Robin R Deterding, Felix Ratjen, 2012-02-25 Kendig, Chernick’s Disorders of the Respiratory Tract in Children is the definitive medical reference book to help you confront critical challenges using the latest knowledge and techniques. You’ll get the state-of-the-art answers you need to offer the best care to young patients. Tackle the toughest challenges and improve patient outcomes with coverage of all the common and rare respiratory problems found in newborns and children worldwide. Get a solid foundation of knowledge to better understand and treat your patients through coverage of the latest basic science and its relevance to clinical problems. Get comprehensive, authoritative coverage on today’s hot topics, such as interstitial lung disease, respiratory disorders in the newborn, congenital lung disease, swine flu, genetic testing for disease and the human genome, inflammatory cytokines in the lung, new radiologic techniques, diagnostic imaging of the respiratory tract, and pulmonary function tests. Learn from the experts with contributions from 100 world authorities in the fields of pediatrics, pulmonology, neurology, microbiology, cardiology, physiology, diagnostic imaging, anesthesiology, otolaryngology, allergy, and surgery. |
| alpha 1 antitrypsin mutation analysis: Diffuse Cystic Lung Diseases Nishant Gupta, Kathryn A. Wikenheiser-Brokamp, Francis X. McCormack, 2021-01-28 This book is a comprehensive reference on diffuse cystic lung diseases (DCLDs). DCLDs are a group of pathophysiologically heterogenous processes that are characterized by the presence of multiple spherical or irregularly shaped, thin-walled, air-filled spaces within the pulmonary parenchyma. In recent years, tremendous advancements have been made in these diseases leading to improved understanding of the underlying pathophysiology, and improved outcomes with targeted therapies. The authors, who are leading experts in the field, delineate DCLDs as a separate category distinct from other interstitial lung diseases, and have created this textbook specifically dedicated to this disease group. This book begins with a chapter introducing the definition and classification of DCLDs. Subsequent chapters address the pathogenic mechanisms underlying pulmonary cyst formation and provide a detailed overview of the radiological and pathological features of DCLDs. The common as well as uncommon causes of DCLDs are comprehensively reviewed in individual chapters, as are the varied clinical presentations and extrapulmonary manifestations, and approaches to management and treatment. The book culminates in a final chapter that presents a practical algorithmic approach to diagnosis that progresses from least invasive to most invasive approaches. This textbook provides a one-stop, comprehensive and integrated, clinical, radiologic, and pathologic overview of DCLDs that will be as useful to the practicing clinician as it is to the clinical investigator. |
| alpha 1 antitrypsin mutation analysis: Alpha-1-Antitrypsin Deficiency Florie Borel, Christian Mueller, 2017-08-08 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. |
| alpha 1 antitrypsin mutation analysis: The Liver Irwin M. Arias, Harvey J. Alter, James L. Boyer, David E. Cohen, David A. Shafritz, Snorri S. Thorgeirsson, Allan W. Wolkoff, 2020-03-09 Bridging the gap between basic scientific advances and the understanding of liver disease — the extensively revised new edition of the premier text in the field. The latest edition of The Liver: Biology and Pathobiology remains a definitive volume in the field of hepatology, relating advances in biomedical sciences and engineering to understanding of liver structure, function, and disease pathology and treatment. Contributions from leading researchers examine the cell biology of the liver, the pathobiology of liver disease, the liver’s growth, regeneration, metabolic functions, and more. Now in its sixth edition, this classic text has been exhaustively revised to reflect new discoveries in biology and their influence on diagnosing, managing, and preventing liver disease. Seventy new chapters — including substantial original sections on liver cancer and groundbreaking advances that will have significant impact on hepatology — provide comprehensive, fully up-to-date coverage of both the current state and future direction of hepatology. Topics include liver RNA structure and function, gene editing, single-cell and single-molecule genomic analyses, the molecular biology of hepatitis, drug interactions and engineered drug design, and liver disease mechanisms and therapies. Edited by globally-recognized experts in the field, this authoritative volume: Relates molecular physiology to understanding disease pathology and treatment Links the science and pathology of the liver to practical clinical applications Features 16 new “Horizons” chapters that explore new and emerging science and technology Includes plentiful full-color illustrations and figures The Liver: Biology and Pathobiology, Sixth Edition is an indispensable resource for practicing and trainee hepatologists, gastroenterologists, hepatobiliary and liver transplant surgeons, and researchers and scientists in areas including hepatology, cell and molecular biology, virology, and drug metabolism. |
| alpha 1 antitrypsin mutation analysis: Tietz Clinical Guide to Laboratory Tests - E-Book Alan H. B. Wu, 2006-06-08 This new edition of Norbert Tietz's classic handbook presents information on common tests as well as rare and highly specialized tests and procedures - including a summary of the utility and merit of each test. Biological variables that may affect test results are discussed, and a focus is placed on reference ranges, diagnostic information, clinical interpretation of laboratory data, interferences, and specimen types. New and updated content has been added in all areas, with over 100 new tests added. - Tests are divided into 8 main sections and arranged alphabetically. - Each test includes necessary information such as test name (or disorder) and method, specimens and special requirements, reference ranges, chemical interferences and in vivo effects, kinetic values, diagnostic information, factors influencing drug disposition, and clinical comments and remarks. - The most current and relevant tests are included; outdated tests have been eliminated. - Test index (with extensive cross references) and disease index provide the reader with an easy way to find necessary information - Four new sections in key areas (Preanalytical, Flow Cytometry, Pharmacogenomics, and Allergy) make this edition current and useful. - New editor Alan Wu, who specializes in Clinical Chemistry and Toxicology, brings a wealth of experience and expertise to this edition. - The Molecular Diagnostics section has been greatly expanded due to the increased prevalence of new molecular techniques being used in laboratories. - References are now found after each test, rather than at the end of each section, for easier access. |
| alpha 1 antitrypsin mutation analysis: Challenging Cases in Dermatology Volume 2 Mohammad Ali El-Darouti, Faiza Mohamed Al-Ali, 2019-08-28 This book comprehensively covers a range of challenging cases in dermatology. It provides easy to follow guidance on how to successfully diagnose and treat a range of unusual diseases with a range of figures with informative legends and clinical data focused exercises to enable the reader to gain confidence and a deep understanding of why the diagnostic and treatment procedures taken in each case were chosen. Cases covered include follicular disorders, melanocytic diseases, vascular tumors, cutaneous lymphomas, and bullous diseases. This second volume of Challenging Cases in Dermatology systematically describes a range of unusual and rare clinical cases in dermatology. It is therefore a valuable resource for all trainee and practising dermatologists looking to further develop their knowledge and understanding of how to successfully diagnose and treat rare and challenging diseases. |
| alpha 1 antitrypsin mutation analysis: Molecular Diagnostics: Promises and Possibilities Mousumi Debnath, Godavarthi B.K.S. Prasad, Prakash S. Bisen, 2010-01-29 A rapid development in diverse areas of molecular biology and genetic engineering resulted in emergence of variety of tools. These tools are not only applicable to basic researches being carried out world over, but also exploited for precise detection of abnormal conditions in plants, animals and human body. Although a basic researcher is well versed with few techniques used by him/her in the laboratory, they may not be well acquainted with methodologies, which can be used to work out some of their own research problems. The picture is more blurred when the molecular diagnostic tools are to be used by physicians, scientists and technicians working in diagnostic laboratories in hospitals, industry and academic institutions. Since many of them are not trained in basics of these methods, they come across several gray areas in understanding of these tools. The accurate application of molecular diagnostic tools demands in depth understanding of the methodology for precise detection of the abnormal condition of living body. To meet the requirements of a good book on molecular diagnostics of students, physicians, scientists working in agricultural, veterinary, medical and pharmaceutical sciences, it needs to expose the reader lucidly to: Give basic science behind commonly used tools in diagnostics Expose the readers to detailed applications of these tools and Make them aware the availability of such diagnostic tools The book will attract additional audience of pathologists, medical microbiologists, pharmaceutical sciences, agricultural scientists and veterinary doctors if the following topics are incorporated at appropriate places in Unit II or separately as a part of Unit-III in the book. Molecular diagnosis of diseases in agricultural crops Molecular diagnosis of veterinary diseases. Molecular epidemiology, which helps to differentiate various epidemic strains and sources of disease outbreaks. Even in different units of the same hospital, the infections could be by different strains of the same species and the information becomes valuable for infection control strategies. Drug resistance is a growing problem for bacterial, fungal and parasitic microbes and the molecular biology tools can help to detect the drug resistance genes without the cultivation and in vitro sensitivity testing. Molecular diagnostics offers faster help in the selection of the proper antibiotic for the treatment of tuberculosis, which is a major problem of the in the developing world. The conventional culture and drug sensitivity testing of tuberculosis bacilli is laborious and time consuming, whereas molecular diagnosis offers rapid drug resistant gene detection even from direct clinical samples. The same approach for HIV, malaria and many more diseases needs to be considered. Molecular diagnostics in the detection of diseases during foetal life is an upcoming area in the foetal medicine in case of genetic abnormalities and infectious like TORCH complex etc. The book will be equally useful to students, scientists and professionals working in the field of molecular diagnostics. |
| alpha 1 antitrypsin mutation analysis: MRCOG Part One Alison Fiander, Baskaran Thilaganathan, 2016-10-13 A fully updated and illustrated handbook providing comprehensive coverage of all curriculum areas covered by the MRCOG Part 1 examination. |
| alpha 1 antitrypsin mutation analysis: Assessing Genetic Risks Institute of Medicine, Committee on Assessing Genetic Risks, 1994-01-01 Raising hopes for disease treatment and prevention, but also the specter of discrimination and designer genes, genetic testing is potentially one of the most socially explosive developments of our time. This book presents a current assessment of this rapidly evolving field, offering principles for actions and research and recommendations on key issues in genetic testing and screening. Advantages of early genetic knowledge are balanced with issues associated with such knowledge: availability of treatment, privacy and discrimination, personal decision-making, public health objectives, cost, and more. Among the important issues covered: Quality control in genetic testing. Appropriate roles for public agencies, private health practitioners, and laboratories. Value-neutral education and counseling for persons considering testing. Use of test results in insurance, employment, and other settings. |
| alpha 1 antitrypsin mutation analysis: Sherlock's Diseases of the Liver and Biliary System James S. Dooley, Anna S. Lok, Guadalupe Garcia-Tsao, Massimo Pinzani, 2018-08-06 A new, fully updated edition of the world’s most famous book on liver diseases—with updating of all areas and inclusion of new specific topics, by internationally renowned specialists This brand new edition of the classic book on hepatology provides a concise, clearly presented and well-structured review across the whole spectrum of hepatobiliary diseases by some of the world’s leading hepatologists and hepatobiliary specialists. Where many other hepatology textbooks provide detailed accounts of basic science and clinical management, Sherlock's Diseases of the Liver and Biliary System, 13th Edition takes a different approach. Concentrating on the clinical decisions to be taken and the relevant supporting data, it is written and edited to maintain Sheila Sherlock's unique approach, in particular the clarity and layout of the text, and the explanatory figures and tables. The book is thus concise, highly accessible, and generously illustrated with over 700 attractive color figures. There is a pithy approach to each disease based both on evidence and on the authors’ experience, the hallmark of this book. Based on these elements, the 12th edition was awarded first prize in the 2012 British Medical Association Book Awards in the Internal Medicine category. Sherlock's Diseases of the Liver and Biliary System begins by introducing the anatomy and function of the liver to readers, continuing then with in-depth coverage of liver biopsy techniques and interpretation, and fibrogenesis and its assessment. There are then chapters on all aspects of liver and biliary disease including acute liver failure, cirrhosis, portal hypertension, hepatic encephalopathy, ascites, hepatitis B and C, alcohol and the liver, non-alcoholic fatty liver disease, drug related liver reactions, cholestatic, autoimmune and genetic liver diseases, benign and malignant tumours and not least liver transplantation. There are also chapters on the liver in pregnancy, in the neonate, infancy and childhood, in systemic diseases and in infections. This new edition also features four new individual chapters focusing on coagulation, non-invasive assessment of fibrosis and cirrhosis; vascular diseases of the liver and portal vein thrombosis, and nutrition in liver disease. Digital downloads of the figures from this edition are offered on a companion website. Internationally recognized and loved, world-renowned hepatology book, first published in 1955 Takes a one-of-a-kind, clinical approach maintaining Sheila Sherlock’s clarity and legacy of presentation Full colour throughout with 700 illustrative figures Wide faculty of international contributors Sherlock's Diseases of the Liver and Biliary System, 13th Edition is an ideal primer in hepatology for students and trainees in hepatology and gastroenterology, and a valuable resource for all specialist gastroenterologists and hepatologists, paediatricians, pathologists, radiologists, general physicians and specialist nurses. |
| alpha 1 antitrypsin mutation analysis: Guide to Diagnostic Tests,Seventh Edition Diana Nicoll, Chuanyi Mark Lu, Michael Pignone, Stephen J. McPhee, 2017-03-24 The essential guide to more than 450 of the most commonly performed diagnostic tests – updated with the latest molecular, genetic, and microbiological tests A Doody's Core Title for 2019! Guide to Diagnostic Tests, Seventh Edition is a concise guide to the selection and interpretation of more than 450 of the laboratory and microbiology tests most relevant to the general practice of medicine. This on-the-spot clinical companion also includes coverage of diagnostic imaging, electrocardiology, echocardiography, and the use of tests in differential diagnosis. Features: • Covers areas of internal medicine, pediatrics, surgery, neurology, and obstetrics and gynecology • Over 25 new or substantially revised laboratory tests • New and updated coverage of emerging and re-emerging pathogens and infectious agents,including the Zika and Ebola viruses • Updated material on molecular and genetic tests, including pharmacogenetics tests • An entire section of diagnostic algorithms • Full literature citations with PubMed identification (PMID) numbers included for each reference • Details costs and risks of various procedures and tests • Full section on electrocardiography and echocardiography If you’ve been looking for an authoritative, up-to-date, and easy-to-carry guide to the latest diagnostic testing procedures, your search ends here. |
| alpha 1 antitrypsin mutation analysis: Pediatric Nephrology Ellis D. Avner, William E. Harmon, Patrick Niaudet, Norishige Yoshikawa, 2009-08-20 Here is an extensive update of Pediatric Nephrology, which has become the standard reference text in the field. It is global in perspective and reflects the international group of editors, who are well-recognized experts in pediatric nephrology. Within this text, the development of kidney structure and function is followed by detailed and comprehensive chapters on all childhood kidney diseases. |
| alpha 1 antitrypsin mutation analysis: When Doctors Become Patients Robert Klitzman, 2008 For many doctors, their role as powerful healer precludes thoughts of ever getting sick themselves. When they do, it initiates a profound shift of awareness-- not only in their sense of their selves, which is invariably bound up with the invincible doctor role, but in the way that they view their patients and the doctor-patient relationship. While some books have been written from first-person perspectives on doctors who get sick-- by Oliver Sacks among them-- and TV shows like House touch on the topic, never has there been a systematic, integrated look at what the experience is like for doctors who get sick, and what it can teach us about our current health care system and more broadly, the experience of becoming ill.The psychiatrist Robert Klitzman here weaves together gripping first-person accounts of the experience of doctors who fall ill and see the other side of the coin, as a patient. The accounts reveal how dramatic this transformation can be-- a spiritual journey for some, a radical change of identity for others, and for some a new way of looking at the risks and benefits of treatment options. For most however it forever changes the way they treat their own patients. These questions are important not just on a human interest level, but for what they teach us about medicine in America today. While medical technology advances, the health care system itself has become more complex and frustrating, and physician-patient trust is at an all-time low. The experiences offered here are unique resource that point the way to a more humane future. |
| alpha 1 antitrypsin mutation analysis: Alpha-1 Antitrypsin Deficiency Thomas Köhnlein, T. Welte, 2007 |
| alpha 1 antitrypsin mutation analysis: Alpha-1-antitrypsin Deficiency Noor Kalsheker, Robert Andrew Stockley, 2017-06-06 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 |
| alpha 1 antitrypsin mutation analysis: Network Medicine Joseph Loscalzo, Albert-László Barabási, Edwin K. Silverman, 2017-02-01 Big data, genomics, and quantitative approaches to network-based analysis are combining to advance the frontiers of medicine as never before. Network Medicine introduces this rapidly evolving field of medical research, which promises to revolutionize the diagnosis and treatment of human diseases. With contributions from leading experts that highlight the necessity of a team-based approach in network medicine, this definitive volume provides readers with a state-of-the-art synthesis of the progress being made and the challenges that remain. Medical researchers have long sought to identify single molecular defects that cause diseases, with the goal of developing silver-bullet therapies to treat them. But this paradigm overlooks the inherent complexity of human diseases and has often led to treatments that are inadequate or fraught with adverse side effects. Rather than trying to force disease pathogenesis into a reductionist model, network medicine embraces the complexity of multiple influences on disease and relies on many different types of networks: from the cellular-molecular level of protein-protein interactions to correlational studies of gene expression in biological samples. The authors offer a systematic approach to understanding complex diseases while explaining network medicine’s unique features, including the application of modern genomics technologies, biostatistics and bioinformatics, and dynamic systems analysis of complex molecular networks in an integrative context. By developing techniques and technologies that comprehensively assess genetic variation, cellular metabolism, and protein function, network medicine is opening up new vistas for uncovering causes and identifying cures of disease. |
| alpha 1 antitrypsin mutation analysis: Inborn Metabolic Diseases K. Tada, N.R.M. Buist, John Fernandes, Jean-Marie Saudubray, Georges van den Berghe, 2013-03-14 Each disease-related chapter begins with a detailed description of the patient and the delineating symptoms used for establishing the diagnosis and differential diagnosis. The highly detailed figures illustrate the metabolic derangement in a uniform way, together with essential aspects of the genetics involved, thus affording clarification and better understanding of the treatment. Topics covered range from general aspects such as the clinical approach, emergency treatment, diagnostic procedures, and psychosocial care for the child and the family, to specific discussions of new modes of treatment, including liver, bone marrow transplantation and somatic gene therapy. |
| alpha 1 antitrypsin mutation analysis: Toxicological Profile for N-nitrosodimethylamine , 1989 |
| alpha 1 antitrypsin mutation analysis: Who Classification of Tumours of the Lung, Pleura, Thymus and Heart International Agency for Research on Cancer, 2015-03-16 WHO Classification of Tumours of the Lung, Pleura, Thymus and Heart is the seventh volume in the Fourth Edition of the WHO series on histological and genetic typing of human tumors. This authoritative, concise reference book provides an international standard for oncologists and pathologists and will serve as an indispensable guide for use in the design of studies monitoring response to therapy and clinical outcome. |
| alpha 1 antitrypsin mutation analysis: Cell Surface Proteases , 2003-05-03 Cell Surface Proteases provides a comprehensive overview of these important enzymes that catalyze the hydrolysis of a protein as it degrades to a simpler substance. In the 1990s, an explosion of new discoveries shed light on the role of cell surface proteases and extended it beyond degradation of extracellular matrix components to include its influence on growth factors, cell signaling, and other cellular events. This volume unites the scientific literature from across disciplines and teases out unified themes of interactions between cell surface proteases and interconnecting cell surface-related systems -- including integrins and other adhesion molecules. Scientists and students involved in developmental biology, cell biology and disease processes will find this an indispensable resource.* Provides an overview of the entire field of cell surface proteases in a single volume* Presents major issues and astonishing discoveries at the forefront of modern developmental biology and developmental medicine * A thematic volume in the longest-running forum for contemporary issues in developmental biology with over 30 years of coverage |
| alpha 1 antitrypsin mutation analysis: The Portuguese Empire, 1415-1808 A. J. R. Russell-Wood, 2020-10-06 Winner of the Dom João de Castro Prize for Portuguese History This is the story of the first and one of the greatest colonial empires: its birth, apotheosis, and decline. By approaching the history of the Portuguese empire thematically, A. J. R. Russell-Wood is able to pursue ideas and make connections that previously have been constrained by strict chronological approaches. Using the study of movement as a focus, Russell-Wood gains unique insight into the diversity, breadth, and balance between the competing interests and priorities that characterized the Portuguese culture and its expansion spanning four centuries' events on four different continents. |
| alpha 1 antitrypsin mutation analysis: Lung Volume Reduction Surgery for Emphysema Henry E. Fessler, John J. Reilly, Jr., David Sugarbaker, 2003-11-14 Considering the epidemiology of COPD, this title collects all available knowledge on the subject, featuring data on the national emphysema treatment trial. It explores the epidemiology of emphysema, the management of complications and surgical controversies in lung volume reduction surgery for emphysema (LVRS). |
| alpha 1 antitrypsin mutation analysis: Lung Volume Reduction Surgery Michael Argenziano, Mark E. Ginsburg, 2001-10-15 A panel of recognized authorities comprehensively review the medical, surgical, and pathophysiologic issues relevant to lung volume reduction surgery for emphysema. Topics range from the open technique and video-assisted thoracoscopic approaches to LVRS, to anesthetic management, to perioperative and nursing care of the patient. The experts also detail the selection of candidates for LVRS, the clinical results and clinical trials in LVRS, and the effects of LVRS on survival rates. |
| alpha 1 antitrypsin mutation analysis: Fetal and Neonatal Pathology Jean W. Keeling, T.Yee Khong, 2009-07-11 The fourth edition of the classic reference in the field of fetal and neonatal pathology, this revised and updated book retains the overall format of previous editions, presenting the same practical approach to the examination of both fetuses and perinatal deaths. It provides essential clinical and pathophysiological information and discusses the pathogenesis of abnormalities as a basis for appropriate methods of investigation. While primarily addressing the morbid anatomist and histopathologist, it is also a valuable resource for obstetricians, neonatologists and paediatricians. |
| alpha 1 antitrypsin mutation analysis: Principles and Techniques of Biochemistry and Molecular Biology Keith Wilson, John Walker, 2010-03-04 Uniquely integrates the theory and practice of key experimental techniques for bioscience undergraduates. Now includes drug discovery and clinical biochemistry. |
| alpha 1 antitrypsin mutation analysis: Inherited Metabolic Diseases Georg F. Hoffmann, Johannes Zschocke, William L. Nyhan, 2009-11-21 The explosion of insights in the field of metabolic disease has shed new light on diagnostic as well as treatment options. ‘Inherited Metabolic Disease – A Clinical Approach’ is written with a reader-friendly consistent structure. It helps the reader to find the information in an easily accessible and rapid way when needed. Starting with an overview of the major groups of metabolic disorders it includes algorithms with questions and answers as well as numerous graphs, metabolic pathways, and an expanded index. Clinical and diagnostic details with a system and symptom based are given to facilitate an efficient and yet complete diagnostic work-up of individual patients. Further, it offers helpful advice for emergency situations, such as hypoglycemia, hyperammonemia, lactic acidosis or acute encephalopathy. Five different indices allow a quick but complete orientation for common important constellations. Last but not least, it has an appendix with a guide to rapid differential diagnosis of signs and symptoms and when not to suspect metabolic disease. It will help physicians to diagnose patients they may otherwise fail to diagnose and to reduce unnecessary referrals. For metabolic and genetic specialists especially the indices will be helpful as a quick look when being called for advice. It has all it needs to become a gold standard defining the clinical practice in this field. |
| alpha 1 antitrypsin mutation analysis: The Papanicolaou Society of Cytopathology System for Reporting Pancreaticobiliary Cytology Martha Bishop Pitman, Lester James Layfield, 2015-05-30 This text and the terminology developed by the Papanicolaou Society of Cytopathology (P.S.C.) represents an important advance in the field of pancreaticobiliary cytopathology. This textbook/atlas is designed to present a comprehensive and state of the art approach to the cytologic diagnosis and reporting of pancreaticobiliary lesions. Chapters address each of the diagnostic categories defined by the P.S.C. The definition of each category along with the clinical pathologic entities contained within the category are discussed along with specific cytologic criteria for inclusion of a cytologic specimen within the category. Each chapter is lavishly illustrated demonstrating diagnostic criteria and examples of lesions contained within the category. Additionally, appropriate ancillary testing is discussed and where appropriate illustrated. Each chapter concludes with a discussion of appropriate management as well as estimates of malignancy risk for the category. The Papanicolaou Society of Cytopathology System for Reporting Pancreaticobiliary Cytology: Definitions, Criteria, Ancillary Testing and Management will provide the reader with a unified approach to diagnosing and reporting interpretations of cytologic specimens obtained from the pancreaticobiliary tract. This text/atlas will serve as a reference guide for pathologists, surgeons, endoscopists and radiologists. |
| alpha 1 antitrypsin mutation analysis: Mackenzie's Mission Rachael Casella, 2020-06-02 A story of triumph over adversity, the strength that can be found in love and kindness, and the power of one couple to effect positive change in the world. 'A true love story' - Mia Freedman, founder of Mamamia Rachael and Jonathan were thrilled to welcome their baby Mackenzie into the world and to start their new lives as parents. Little did they know that in a few months they would be tested to endurance and beyond. Like many other couples starting a family, Rachael and Jonathan had no idea they were both carriers for a genetic disease, and that 1 in 20 babies are affected by genetic birth defects. Their daughter was one of those babies, and Mackenzie's Mission is Rachael's beautiful and heartwarming account of Mackenzie's life, child loss, and a journey through IVF. Determined that other couples should not go through the same heartbreak, Rachael and Jonathan are now champions for genetic testing. This is a story of triumph over adversity, the strength that can be found in kindness and the power of one couple to effect positive change in the world. 'Heartbreaking and inspiring. A must read for anyone who's lost a child, loved a child, or is desperately trying to for a child. You will cry but you will also find comfort in this incredible story.' - Erin Molan, sports presenter, Nine Network 'A book about grief and finding purpose through unimaginable loss and heartbreak. Beautiful Mackenzie will continue to have a powerful impact on this world through the work of her remarkable parents.' - Libby Trickett, Olympic swimming gold medallist and author of Beneath the Surface 'The most extraordinary story of a mother's love and her daughter's legacy.' - Marcia Leone, creator of Not So Mumsy |
| alpha 1 antitrypsin mutation analysis: Practical Interpretation of Liver Biopsy, Volume 1 Xiuli Liu, Jinping Lai, Nirag Jhala, 2020-11-24 This volume brings together concise, essential, and up-to-date information on the most commonly encountered non-neoplastic liver diseases. It will be of use in a busy pathology practice setting for both general pathologists and pathology trainees. The checklists at the end of each chapter provide guidance on initiating the workup, generating the report, and suggesting subsequent studies. In addition, this book will be a good reference for liver pathology for hepatologists, other clinicians, and researchers who study the liver. |
| alpha 1 antitrypsin mutation analysis: American Academy of Pediatrics Textbook of Pediatric Care Jane Meschan Foy, 2016-03-31 The definitive manual of pediatric medicine - completely updated with 75 new chapters and e-book access. |
| alpha 1 antitrypsin mutation analysis: Biochemistry and Genetics Pretest Self-Assessment and Review 5/E Golder N. Wilson, 2013-06-05 PreTest is the closest you can get to seeing the USMLE Step 1 before you take it! 500 USMLE-style questions and answers! Great for course review and the USMLE Step 1, PreTest asks the right questions so you’ll know the right answers. You’ll find 500 clinical-vignette style questions and answers along with complete explanations of correct and incorrect answers. The content has been reviewed by students who recently passed their exams, so you know you are studying the most relevant and up-to-date material possible. No other study guide targets what you really need to know in order to pass like PreTest! |
| alpha 1 antitrypsin mutation analysis: Syndromes of the Head and Neck Robert J. Gorlin, Jens Jørgen Pindborg, Meyer Michael Cohen, 1976 |
| alpha 1 antitrypsin mutation analysis: The 5-Minute Clinical Consult 2013 Domino, Robert A. Baldor, 2012-05-01 The 5-Minute Clinical Consult 2013 Standard Edition provides rapid-access information on the diagnosis, treatment, medications, follow-up, and associated conditions of diseases and conditions. Organized alphabetically by diagnosis, this best-selling clinical reference continues to present brief, bulleted points on disease topics in a consistent 3-column format. FREE 30 Day Access to 5minuteconsult.com online/mobile accompanies this textbook purchase. This trusted, evidence-based content is written by physicians to bring you the information you need fast at the point of care. Features include... More than 900 topics in print and online including over 95 new topics: Asherman Syndrome, Acute Diarrhea, Pulmonary Fibrosis, Gastric Polyp, Hand-Foot-Mouth Disease, IgA Nephropathy, Q Fever, Thymus Cancer and many more Additional 30 algorithms in print and online including Dizziness, Migraine Treatment, Rectal Pain and Vitamin D Deficiency 30 Day FREE Online Access to 5minuteconsult.com Includes... Diseases & Conditions - Thousands of bulleted topics from across our 5-Minute Series to support your patient care decisions 12-in-1 - Access to content from 12 titles (5 Minute: Pain Management, Obstetrics/Gynecology, Pediatrics, Women's Health, Orthopedic, Urology, Cardiology, Emergency Medicine and Clinical as well as Essential Guide to Primary Care Procedures, A Practical Guide to Soft Tissue & Joint Injections and Wallach's Interpretation of Diagnostic Tests Internet Point-of-Care CME - Earn CME credits as you treat your patients at no additional cost Customizable Patient Handouts - Over 1,000 handouts in English/Spanish from AAFP to help educate your patients Procedure Video - Build your skills with procedure videos and also have access to physical therapy videos Drugs - A to Z drug monographs from Facts and Comparison with patient education and interactions Algorithms - Diagnostic and Treatment algorithms linked to associated topic for quick reference Images - Provide visual guidance in areas such as dermatology, radiology etc Updates - Topics, videos, handouts, drugs and more updated on a regular basis Mobile - Web-enabled mobile access to diseases/conditions, drugs, images, algorithms and lab tests as well as updates |
| alpha 1 antitrypsin mutation analysis: Pocket Guide to Ocular Oncology and Pathology Hans Grossniklaus, 2016-08-23 This handbook is designed to serve as a compact, up-to-date, and easy-to-use reference on the clinical features and pathology of ocular tumors. It comprises approximately 75 entries that cover the full spectrum of clinically encountered ocular tumors as well as tumor classification and other selected topics. Each entry addressing a given tumor or class of tumors is organized in a standard way, with information on synonyms, definition, etiology, clinical presentation, diagnosis, differential diagnosis, prophylaxis, therapy, prognosis, and epidemiology. Key references are also provided. The book has the advantage of having been written by members of an ocular oncology group from a leading cancer center, and will be of great practical value for ophthalmologists and ophthalmic pathologists. |
| alpha 1 antitrypsin mutation analysis: The Metabolic & Molecular Bases of Inherited Disease Charles R. Scriver, 2001 Presents clinical, biochemical, and genetic information concerning those metabolic anomalies grouped under inborn errors of metabolism. |
| alpha 1 antitrypsin mutation analysis: British Journal of Diseases of the Chest , 1982 |
想了解omega，beta，alpha，ABO是 …
alpha和omega数量稀缺。alpha通常体质、头脑都很好，是社会中的精英；omega则十分娇弱，但具有很强的生育能力，她们就类似古代的女人，一般不会被允许劳作，而作为 …
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与Alpha男性具备同等购买力的财富和外表，是过度自负的表现；而赋予自身“在系统之外不被理解”的孤独感，是自卑的外化。 “西格玛男性与incel有很多共同之处，他们普遍认 …
想了解omega，beta，alpha，ABO是什么意思，别人说的时候我 …
alpha和omega数量稀缺。alpha通常体质、头脑都很好，是社会中的精英；omega则十分娇弱，但具有很强的生育能力，她们就类似古代的女人，一般不会被允许劳作，而作为珍贵的生育工具存在 …
为什么用 ‘Alpha’ 代表透明度？ - 知乎
Aug 3, 2013 · 为什么取名为 Alpha 通道，我觉得是因为这是除RGB以外「第一个通道」的意思，没有别的更深刻的含义。 「Alpha 通道」是图片内在的一个属性，用 css 或者其他外部方法设定透明度， …
什么是指令集？CPU的指令集是怎么运作的？X86、ARM、MIPS …
5、DEC Alpha Alpha是DEC公司推出的RISC指令集系统，基于Alpha指令集的CPU也称为Alpha AXP架构，是64位的 RISC微处理器，最初由DEC公司制造，并被用于DEC自己的工作站和服务器中。作 …
ɑ与a的区别是什么？是不是a是英文印刷体，而ɑ是汉语拼音字 …
Feb 23, 2025 · 第二，从编码角度来说，你输入的「a」这个字符是 U+0061，在绝大部分字体中被视作正常的拉丁字母小写 a；「ɑ」这个字符是 U+0251，叫 Latin alpha。在 Unicode 眼中，「a」和 …
什么是西格玛男人？ - 知乎
与Alpha男性具备同等购买力的财富和外表，是过度自负的表现；而赋予自身“在系统之外不被理解”的孤独感，是自卑的外化。 “西格玛男性与incel有很多共同之处，他们普遍认为自己太聪明了，不适合这 …
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