Being At Genetic Risk

Download Being At Genetic Risk ebook PDF or Read Online books in PDF, EPUB, and Mobi Format. Click Download or Read Online button to Being At Genetic Risk book pdf for free now.

Being At Genetic Risk

Author : Kelly Pender
ISBN : 0271082100
Genre : Health & Fitness
File Size : 51.41 MB
Format : PDF, ePub
Download : 287
Read : 918

Advocates a conversation around the genetic risk for breast and ovarian cancers that focuses less on choice and more on care. Offers a new set of conceptual starting points for understanding what is at stake with a BRCA diagnosis and what the focus on choice obstructs from view.
Category: Health & Fitness

Introduction To Risk Calculation In Genetic Counseling

Author : Ian D. Young
ISBN : 0199748306
Genre : Medical
File Size : 20.62 MB
Format : PDF
Download : 662
Read : 314

The process of genetic counseling involves many key components, such as taking a family genetic history, making a diagnosis, and providing communication and support to the family. Among these core processes is the mathematical calculation of the actual risk of a possible genetic disorder. For most physicians and counselors, the mathematics and statistics involved can be major challenge which is not always helped by complex computer programs or lengthy papers full of elaborate formulae. In this clear, reader-friendly guide, Ian Young addresses this problem and demonstrates how risk can be estimated for inherited disorders using a basic knowledge of the laws of probability and their application to clinical problems. The text employs a wealth of clearly explained examples and key points in order to guide the reader to an accurate assessment of the risk of genetic disease. It primarily will appeal to genetic counselors, geneticists, and all those involved in providing medical genetic services. In this new edition, Dr. Young has pruned redundancies and extensively updated the concepts in each of the 10 chapters, and he has included more working examples, a popular feature of the book.
Category: Medical

The Genetics Of Cancer

Author : B.A. Ponder
ISBN : 9789401106771
Genre : Medical
File Size : 61.71 MB
Format : PDF, ePub, Mobi
Download : 957
Read : 501

It has been recognized for almost 200 years that certain families seem to inherit cancer. It is only in the past decade, however, that molecular genetics and epidemiology have combined to define the role of inheritance in cancer more clearly, and to identify some of the genes involved. The causative genes can be tracked through cancer-prone families via genetic linkage and positional cloning. Several of the genes discovered have subsequently been proved to play critical roles in normal growth and development. There are also implications for the families themselves in terms of genetic testing with its attendant dilemmas, if it is not clear that useful action will result. The chapters in The Genetics of Cancer illustrate what has already been achieved and take a critical look at the future directions of this research and its potential clinical applications.
Category: Medical

Methods For Genetic Risk Assessment

Author : David Brusick
ISBN : 1566700396
Genre : Science
File Size : 26.46 MB
Format : PDF, Docs
Download : 324
Read : 1080

Genetic disease contributes to a major portion of our health care costs. While most of the human genetic burden is transmitted from generation to generation, environmental chemicals capable of reacting with germ cell DNA could produce new mutations, resulting in an even greater genetic liability for the next generation. The potential impact of environmental mutagens on the health and viability of other living things is important to consider as well. Methods for Genetic Risk Assessment features contributions from international experts to provide a comprehensive review of the current status of genetic risk assessment. You'll learn about various methods and strategies for when and how to conduct genetic risk assessments on human populations. You will also learn about the potential effects of environmental genotoxins on nonhuman organisms. Topics considered include:
Category: Science

Human Genetics And Genomics

Author : Bruce R. Korf
ISBN : 9781118537664
Genre : Medical
File Size : 79.41 MB
Format : PDF, Mobi
Download : 240
Read : 1110

This fourth edition of the best-selling textbook, Human Genetics and Genomics, clearly explains the key principles needed by medical and health sciences students, from the basis of molecular genetics, to clinical applications used in the treatment of both rare and common conditions. A newly expanded Part 1, Basic Principles of Human Genetics, focuses on introducing the reader to key concepts such as Mendelian principles, DNA replication and gene expression. Part 2, Genetics and Genomics in Medical Practice, uses case scenarios to help you engage with current genetic practice. Now featuring full-color diagrams, Human Genetics and Genomics has been rigorously updated to reflect today’s genetics teaching, and includes updated discussion of genetic risk assessment, “single gene” disorders and therapeutics. Key learning features include: Clinical snapshots to help relate science to practice ‘Hot topics’ boxes that focus on the latest developments in testing, assessment and treatment ‘Ethical issues’ boxes to prompt further thought and discussion on the implications of genetic developments ‘Sources of information’ boxes to assist with the practicalities of clinical research and information provision Self-assessment review questions in each chapter Accompanied by the Wiley E-Text digital edition (included in the price of the book), Human Genetics and Genomics is also fully supported by a suite of online resources at www.korfgenetics.com, including: Factsheets on 100 genetic disorders, ideal for study and exam preparation Interactive Multiple Choice Questions (MCQs) with feedback on all answers Links to online resources for further study Figures from the book available as PowerPoint slides, ideal for teaching purposes The perfect companion to the genetics component of both problem-based learning and integrated medical courses, Human Genetics and Genomics presents the ideal balance between the bio-molecular basis of genetics and clinical cases, and provides an invaluable overview for anyone wishing to engage with this fast-moving discipline.
Category: Medical

The Genetic Testing Of Children

Author : Angus Clarke
ISBN : 9781000144673
Genre : Medical
File Size : 46.64 MB
Format : PDF, Mobi
Download : 102
Read : 1204

This book, written by a leading geneticist, examines the ethical and social issues raised by the genetic testing of children. The opinions of geneticists, ethicists and affected families are all included to give a balanced view of this controversial field. Issues covered include confidentiality, potential abuses of genetic information (eg the use of test results by insurance companies) and the value of predictive genetic testing. The aim of the book is to improve awareness of the complexity of the issues raised and provide suggestions as to how the discussions must develop - it therefore raises new questions as well as answering those that already exist.
Category: Medical

Coronary Risk Factors Update An Issue Of Medical Clinics E Book

Author : Valentin Fuster
ISBN : 9781455742929
Genre : Medical
File Size : 50.45 MB
Format : PDF, ePub, Mobi
Download : 103
Read : 1097

This issue of Medical Clinics of North America provides the latest essential updates on coronary risk factors. The following key questions are answered. Are new biomarkers informative? LDL: the lower the better? How important is HDL? How much credit does triglyceride deserve? How important is family history of coronary disease? How important is age in determining coronary risk factors? Endothelial progenitor cells, menopause, and coronary risk factors? What is the role of imaging in prevention of coronary artery disease? Is genomics ready for primetime? Pediatric statinization? Individualized statinization? Polypill for some, polypill for all?
Category: Medical

Chromosome Abnormalities And Genetic Counseling

Author : R.J.M McKinlay Gardner
ISBN : 9780199749157
Genre : Medical
File Size : 47.57 MB
Format : PDF, Kindle
Download : 567
Read : 352

Chromosome abnormalities have been known for over 50 years, though the methods of analysis have become increasing more sophisticated and precise. Surprisingly, the questions that parents and families raise in genetic counseling have changed little over that period. Questions like, "Why did an abnormality happen? Why did it cause the problems we see in our child? Would it happen again in a future child? How could we avoid it happening again?" are common concerns for families. This new edition of Chromosome Abnormalities and Genetic Counseling deals with these universal questions, and in the context of the recent developments in molecular cytogenetic analysis, but retaining always the major focus on the needs of the families in which these conditions occur. Thoroughly updated once again, this richly-illustrated text combines basic concepts of chromosomal analysis with practical applications of recent advances in molecular cytogentics. The book will give counselors the information that will enable them to help concerned parents accommodate and adapt to their particular chromosomal challenges and to determine what may be, for them, the best course of action.
Category: Medical

Cardiovascular Genetics And Genomics In Clinical Practice

Author : Donna K. Arnett, PhD
ISBN : 9781617051784
Genre : Medical
File Size : 88.81 MB
Format : PDF, ePub, Docs
Download : 182
Read : 414

Weighted Numerical Score: 100 - 5 Stars! This is a systematic guide to cardiovascular genetics and genomics from basic concepts to clinical application. It organizes a large volume of information from an active area of research, which holds promise for future discovery. --Doody's Reviews Cardiovascular Genetics and Genomics in Clinical Practice presents clinical cases to illuminate basic concepts of cardiovascular genetics and genomics as practitioners encounter them in day-to-day practice. The unique use of real-world case discussions facilitates the memorization and understanding of basic principles, which can be more readily applied to actual cases. Cardiovascular Genetics and Genomics in Clinical Practice features a step-by-step learning process that begins with an easy-to-understand "primer" of basic scientific concepts regarding cardiovascular genetics and genomics followed by state-of-the-art research and applications for treatment of cardiovascular disorders. Expert clinicians and researchers describe illustrative cases for each topic along with detailed discussions of current scientific understanding and its application in current disease management and treatment. Summaries, key teaching points, and illustrations are highlighted to facilitate quick recall and review. The book will be useful for cardiovascular clinicians in training, board preparation, or as a review for those already in clinical practice. Cardiovascular Genetics and Genomics in Clinical Practice features: Clinical case scenarios to illuminate the basic concepts of cardiovascular genetics and genomics as they are used in daily practice Explanation of fundamental concepts as a foundation for more in-depth understanding Detailed discussions of current scientific knowledge and clinical management The expertise of renowned clinician-scientists in the field Real practical insight for practice
Category: Medical

Quality Issues In Clinical Genetic Services

Author : Ulf Kristoffersson
ISBN : 9048139198
Genre : Medical
File Size : 83.43 MB
Format : PDF, ePub, Mobi
Download : 188
Read : 1246

Initially genetic disorders were all considered as rare diseases. At present, in the mid of 2009, the OMIM catalogue contains information on more than 12 000 entries of which about 2500 are available for clinical testing based on the identification of the responsible gene defect. However, altogether it has been estimated that about 8 percent of a population in the economically developed countries will during their lifetime suffer from a disease mainly as the result of their genetic constitution. Adding to that, it is estimated that all diseases have a genetic component, which will determine who will be at a higher than average risk for a certain disorder. Further it is postulated that in the near future, this genetic profiling could become useful in selecting an appropriate therapy adapted to the genetic constitution of the person. Thus, genetic disorders are not rare. Measuring quality of health care related processes became an issue in the 1990s, mainly in laboratory medicine, but also for hospitals and other health care systems. In many countries national authorities started to implement recommendations, guidelines or legal procedures regulating quality of health care delivery. In laboratory medicine, in parallel, the use of accreditation as a method assuring high quality standards in testing came in use. With the increasing possibilities of performing molecular genetic testing, genetic laboratories needed to become involved in this process. As many genetic disorders are rare, most laboratories worldwide offered analysis for a specific set of disorders, and, therefore, very early on a transborder flow of samples occurred. While international quality criteria (ISO) have been in existence for a number of years, the regulation of quality issues still may differ between countries. Based on their personal experience in the varying fields of quality research and clinical implementation of quality criteria in genetic services the authors of this book share their experience and give examples of the implementation of quality issues in national quality systems worldwide. This book, which is the result of the effort of many persons, is destined to aid laboratory managers and counsellors, health care managers and other stakeholders in national or international health care service to improve the services to the benefit of patients with suspected genetic disorders.
Category: Medical

Rheumatoid Arthritis E Book

Author : Marc C. Hochberg
ISBN : 9780323071024
Genre : Medical
File Size : 55.91 MB
Format : PDF, Mobi
Download : 386
Read : 1209

First Prize, Orthopaedics and Rheumatology, BMA Awards 2009 This state-of-the-art reference provides current insights into the etiology, diagnosis and management of rheumatoid arthritis. Leading international authorities in RA examine all of the latest scientific and clinical developments in understanding and managing this challenging disease, including new concepts in pathogenesis, epidemiology, risk factors, imaging, clinical outcomes and treatment. It’s the guidance you need to offer optimal care to your patients with rheumatoid arthritis. Presents the work of leading international experts in rheumatoid arthritis for guidance you can trust. Provides the very latest understanding of the pathogenesis of rheumatoid arthritis, including molecular pathways/mechanisms, and genetic and environmental factors that instigate and drive the disease. Includes comprehensive coverage of clinical features of rheumatoid arthritis including articular, peri-articular and extra-articular manifestations, comorbidities, and outcome measures—disease activity, joint assessment, imaging, and more—for expert diagnosis and monitoring of disease progression. Examines evidence-based treatment options—including traditional and biologic DMARDs and combination therapies—as well as promising therapies on the horizon, placing up-to-date guidance on disease modifying or disease controlling agents at your fingertips.
Category: Medical

Davidson S Principles And Practice Of Medicine E Book

Author : Brian R. Walker
ISBN : 9780702051036
Genre : Medical
File Size : 57.77 MB
Format : PDF, Docs
Download : 759
Read : 1106

More than two million medical students, doctors and other health professionals from around the globe have owned a copy of Davidson’s Principles and Practice of Medicine since it was first published. Today’s readers rely on this beautifully illustrated text to provide up-to-date detail of contemporary medical practice, presented in a style that is concise and yet easy to read. Davidson’s provides the factual knowledge required to practise medicine, explaining it in the context of underlying principles, basic science and research evidence, and shows how to apply this knowledge to the management of patients who present with problems rather than specific diseases. The book has won numerous prizes including being highly commended in the British Medical Association book awards. Davidson’s global perspective is enhanced by the input of an international team of authors and a distinguished International Advisory Board from 17 countries. Building on the foundations laid down by its original editor, Davidson’s remains one of the world’s leading and most respected textbooks of medicine. The underlying principles of medicine are described concisely in the first part of the book, and the detailed practice of medicine within each sub-specialty is described in later system-based chapters. Most chapters begin with a two-page overview of the important elements of the clinical examination, including a manikin to illustrate the key steps in the examination of the relevant system. A practical, problem-based clinical approach is described in the ‘Presenting Problems’ sections, to complement the detailed descriptions of each disease. The text is extensively illustrated, with over 1000 diagrams, clinical photographs, and radiology and pathology images. 1350 text boxes present information in a way suitable for revision, including 150 clinical evidence boxes summarising the results of systematic reviews and randomised controlled trials and 65 ’In Old Age’ boxes highlighting important aspects of medical practice in the older population. A combined index and glossary of medical acronyms contains over 10 000 subject entries. The contents can also be searched comprehensively as part of the online access to the whole book on the StudentConsult platform. Access over 500 self-testing questions with answers linked to the book’s content for further reading. The text uses both SI and non-SI units to make it suitable for readers throughout the globe. A new chapter specifically on Stroke Disease recognises the emergence of Stroke Medicine as a distinct clinical and academic discipline. A rationalisation of the 1350 boxes used throughout the book gives a simpler and clearer presentation of the various categories. New ‘In Adolescence’ boxes recognise the fact that many chronic disorders begin in childhood and become the responsibility of physicians practising adult medicine. These boxes acknowledge the overlap ‘transitional’ phase and highlight the key points of importance when looking after young people. The regular introduction of new authors and editors maintains the freshness of each new edition. On this occasion Dr Ian Penman has joined the editorial team and 18 new authors bring new experience and ideas to the content and presentation of the textbook. An expanded International Advisory Board of 38 members includes new members from several different countries.
Category: Medical

Principles Of Genetic Toxicology

Author : D. Brusick
ISBN : 0306425327
Genre : Medical
File Size : 30.39 MB
Format : PDF, Mobi
Download : 434
Read : 503

The field of genetic toxicology has gone through remarkable development in the seven years since the appearance of the first edition of Principles of Genetic Toxicology. One branch of toxicology research, chemical mutagenesis, has been elucidated and expanded as a result of increased effort, testing, and the sharing of data. This expansion has occurred not only in the industrialized countries, but also in countries that are comparatively less advanced in scientific implementation. These developing countries have taken advan tage of the basic practical methods that were so well described in the first edition of this work. It is significant to note how many centers have been established throughout the world and are now studying the basic concepts and applying them to practical problems such as the detection of genetic effects caused by exposure to chemicals. In fact, there are now toxicology training centers in twelve countries. Genetic toxicology, in addition to being investigated as a science unto itself, has been taught to people in the applied fields so that these techniques may be put to use in solving other biological problems. For these reasons, it is most useful to have an update of the basic methods and their development. Dr. Brusick should be congratulated for doing such an excellent job of assembling a text that will be worthwhile to any researcher who is interested in the principles of genetic toxicology. Alexander Hollaender Council for Research Planning in Biological Sciences, Inc. Washington, D. C.
Category: Medical

Toward A Genetics Of Language

Author : Mabel L. Rice
ISBN : 9781134789252
Genre : Language Arts & Disciplines
File Size : 27.90 MB
Format : PDF, Kindle
Download : 663
Read : 302

The past decade has brought important new advances in the fields of genetics, behavioral genetics, linguistics, language acquisition, studies of language impairment, and brain imaging. Although these advances are each highly relevant to the determination of what a child is innately prepared to bring to language acquisition, the contributing fields of endeavor have traditionally been relatively self-contained, with little cross communication. This volume was developed with the belief that there is considerable value to be gained in the creation of a shared platform for a dialogue across the disciplines. Leading experts in genetics, linguistics, language acquisition, language impairment, and brain imaging are brought together for the purpose of exploring the current evidence, theoretical issues, and research challenges in a way that bridges disciplinary boundaries and points toward future developments in the search for the genetic and environmental bases of language acquisition and impairments. This collection provides discussions and summaries of: *breakthrough findings of the genetic underpinnings of dyslexia; *theoretical and empirical developments in the specification of a phenotype of language acquisition and impairment; *evidence of familiarity and twin concordances of specific language impairment; and *new evidence from brain imaging. It concludes with a critical response from an advocate of rational empiricism.
Category: Language Arts & Disciplines

Clinical Genetics In Nursing Practice

Author : Felissa R. Lashley, PhD, RN, FABMGG
ISBN : 0826123678
Genre : Medical
File Size : 81.28 MB
Format : PDF, ePub, Docs
Download : 356
Read : 899

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.
Category: Medical

Practical Genetic Counselling

Author : Peter S. Harper
ISBN : 9781483183664
Genre : Health & Fitness
File Size : 30.32 MB
Format : PDF, ePub
Download : 962
Read : 1106

Practical Genetic Counselling, Third Edition presents the progress in the field of medical genetics. This book covers the broad area of congenital malformation syndromes and dysmorphology. Organized into three parts encompassing 26 chapters, this edition begins with an overview of the main steps in the process of genetic counselling. This text then examines how a Mendelian inheritance may be established by a combination of clinical diagnosis. Other chapters consider the risks in specific groups of chromosomal disorders. This book discusses as well the molecular genetic approaches, which are making an impact in the treatment of major disorders by providing pure and comparatively inexpensive gene products. The final chapter deals with how genetic counselling is contributing to reducing the general burden of genetic disease in the population. This book is a valuable resource for geneticists, neurologists, clinicians, pediatricians, and obstetricians. Readers who are interested to know about genetic disorders will also find this book useful.
Category: Health & Fitness

The Politics Of Life Itself

Author : Nikolas Rose
ISBN : 9781400827503
Genre : Social Science
File Size : 40.2 MB
Format : PDF, Kindle
Download : 812
Read : 682

For centuries, medicine aimed to treat abnormalities. But today normality itself is open to medical modification. Equipped with a new molecular understanding of bodies and minds, and new techniques for manipulating basic life processes at the level of molecules, cells, and genes, medicine now seeks to manage human vital processes. The Politics of Life Itself offers a much-needed examination of recent developments in the life sciences and biomedicine that have led to the widespread politicization of medicine, human life, and biotechnology. Avoiding the hype of popular science and the pessimism of most social science, Nikolas Rose analyzes contemporary molecular biopolitics, examining developments in genomics, neuroscience, pharmacology, and psychopharmacology and the ways they have affected racial politics, crime control, and psychiatry. Rose analyzes the transformation of biomedicine from the practice of healing to the government of life; the new emphasis on treating disease susceptibilities rather than disease; the shift in our understanding of the patient; the emergence of new forms of medical activism; the rise of biocapital; and the mutations in biopower. He concludes that these developments have profound consequences for who we think we are, and who we want to be.
Category: Social Science

Preventive Cardiology A Companion To Braunwald S Heart Disease E Book

Author : Roger Blumenthal
ISBN : 9781437737851
Genre : Medical
File Size : 25.87 MB
Format : PDF, ePub, Mobi
Download : 685
Read : 779

Endorsed by the American Society for Preventive Cardiology! Preventive Cardiology - a new Companion to Braunwald’s Heart Disease - addresses the prevention and risk stratification of cardiovascular disease so that you can delay the onset of disease and moderate the effects and complications. Drs. Roger Blumenthal, JoAnne Foody, and Nathan Wong discuss the full range of relevant considerations, including the epidemiology of heart disease, risk assessment, risk factors, multiple risk factor-based prevention strategies, and developments in genetics and personalized medicine. This authoritative reference gives you the clinically relevant information you need for the effective prevention of cardiovascular disease. Recognize the factors for prevention and risk stratification around cardiovascular disease and effectively delay the onset of disease and moderate the effects and complications, even for individual who are genetically predisposed. Effectively navigate full range of considerations in prevention from epidemiology of heart disease, biology of atherosclerosis and myocardial infraction, risk assessment—established risk factors and emerging risk factors, multiple risk factor-based prevention strategies, and future directions—through genetics, personalized medicine, and much more. Tap into the expertise of prominent leaders in cardiovascular disease prevention with guidance from Drs. Roger Blumenthal—longtime director of the Framingham Heart Study—JoAnne Foody, and Nathan Wong. Gain a deeper understanding of the pathogenesis of disease and the rationale for management through discussions of basic science. Apply current clinical practice guidelines to ensure optimal outcomes in both primary and secondary prevention.
Category: Medical

Emery S Elements Of Medical Genetics E Book

Author : Peter D Turnpenny
ISBN : 9780702045059
Genre : Science
File Size : 42.9 MB
Format : PDF, Mobi
Download : 783
Read : 996

Master the genetics you need to know with the updated 14th Edition of Emery’s Elements of Medical Genetics by Drs. Peter Turnpenny and Sian Ellard. Review the field’s latest and most important topics with user-friendly coverage designed to help you better understand and apply the basic principles of genetics to clinical situations. Learning is easy with the aid of clear, full-color illustrative diagrams, a wealth of clinical photographs of genetic diseases, multiple-choice and case-based review questions, and end-of-chapter summaries. With this highly visual, award-winning classic in your hands, you have all the genetics knowledge you need for exams or practice. This title includes additional digital media when purchased in print format. For this digital book edition, media content is not included. Get a broad view of medical genetics with a unique three-part structure that looks at the Principles of Human Genetics, Genetics in Medicine, and Clinical Genetics. Visualize the appearance of genetic disorders with a fantastic art program that presents many clinical photos of genetic diseases, and work through complicated ideas with an array of full-color illustrative diagrams. Master the material you need to know with a title preferred by faculty and students alike over the last three decades and awarded the British Medical Association Medial Student Textbook of the Year in 2008. Access to www.studentconsult.com, including 150 USMLE-style multiple choice questions to aid study and self-testing. Apply the latest research with chapters on developmental genetics, cancer genetics, prenatal testing and reproduction genetics, ‘clonal’ sequencing, and more. Understand complex concepts with the help of an increased number of diagrams. Be fully aware of social, ethical, and counseling issues by reviewing an improved section on these topics.
Category: Science