Download or read book Modern Medical Genetics and Genomics written by Israel Gomy and published by BoD – Books on Demand. This book was released on 2019-12-18 with total page 106 pages. Available in PDF, EPUB and Kindle. Book excerpt: The field of medical genetics and genomics has been constantly revolutionized by new breakthroughs, which bring more knowledge into the etiology and help improve the health care of individuals with either rare or common diseases. Nevertheless, as technologies evolve, novel challenges emerge, both technically and ethically, so they must be prudentially addressed. Among the myriad applications of genomics in medicine, this book depicts a glimpse of the advances achieved that have been leading us to the personalized/precision medicine era.

Download or read book Emery and Rimoin s Principles and Practice of Medical Genetics and Genomics written by Reed E. Pyeritz and published by Academic Press. This book was released on 2020-09-30 with total page 792 pages. Available in PDF, EPUB and Kindle. Book excerpt: For decades, Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics has served as the ultimate resource for clinicians integrating genetics into medical practice. With nearly 5,000 pages of detailed coverage, contributions from over 250 of the world’s most trusted authorities in medical genetics, and a series of 11 volumes available for individual sale, the Seventh Edition of this classic reference includes the latest information on seminal topics such as prenatal diagnosis, genome and exome sequencing, public health genetics, genetic counseling, and management and treatment strategies to complete its coverage of this growing field for medical students, residents, physicians, and researchers involved in the care of patients with genetic conditions. This comprehensive yet practical resource emphasizes theory and research fundamentals related to applications of medical genetics across the full spectrum of inherited disorders and applications to medicine more broadly. In Metabolic Disorders, leading physicians and researchers thoroughly examine medical genetics as applied to a range of metabolic disorders, with emphasis on understanding the genetic mechanisms underlying these disorders, diagnostic approaches, and therapeutics that make use of current genomic technologies and translational studies. Here genetic researchers, students, and health professionals will find new and fully revised chapters on the genetic basis of body mass, amino acid, carbohydrate, iron, copper, lipo protein, and lipid metabolic disorders, as well as organic acidemias, fatty acid oxidation, and peroxisome disorders among others. With regular advances in genomic technologies propelling precision medicine into the clinic, Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics: Seventh Edition bridges the gap between high-level molecular genetics and practical application and serves as an invaluable clinical tool for health professionals and researchers. Wholly revised and up-to-date, this volume thoroughly addresses medical genetics and genomics as applied to metabolic disorders, with emphasis on understanding the genetic mechanisms underlying these disorders, diagnostic approaches, and treatment methods Provides genetic researchers, students, and health professionals with up-to-date coverage on the genetic basis of a range of metabolic disorders, including body mass, amino acid, carbohydrate, iron, copper, lipo protein, and lipid metabolic disorders, as well as organic acidemias, fatty acid oxidation, and peroxisome disorders among others Includes color images supporting identification, concept illustration, and method processing Features contributions by leading international researchers and practitioners of medical genetics A robust companion website offers lecture slides, image banks, and links to outside resources and articles to stay up-to-date on the latest developments in the field

Download or read book Pathophysiology of Disease An Introduction to Clinical Medicine 7 E ENHANCED EBOOK written by Gary D. Hammer and published by McGraw Hill Professional. This book was released on 2014-03-22 with total page 779 pages. Available in PDF, EPUB and Kindle. Book excerpt: A full-color, case-based review of the essentials of pathophysiology--covering all major organs and systems The goal of this trusted text is to introduce you to clinical medicine by reviewing the pathophysiologic basis of 120 diseases (and associated signs and symptoms) commonly encountered in medical practice. The authors, all experts in their respective fields, have provided a concise review of relevant normal structure and function of each body system, followed by a description of the pathophysiologic mechanisms that underlie several common diseases related to that system. Each chapter of Pathophysiology of Disease concludes with a collection of case studies and questions designed to test your understanding of the pathophysiology of each clinical entity discussed. These case studies allow you to apply your knowledge to specific clinical situations. Detailed answers to each case study question are provided at the end of the book. This unique interweaving of physiological and pathological concepts will put you on the path toward thinking about signs and symptoms in terms of their pathophysiologic basis, giving you an understanding of the "why" behind illness and treatment. Features 120 case studies (9 new) provide an opportunity for you to test your understanding of the pathophysiology of each clinical entity discussed Checkpoint questions provide review and appear in every chapter Updates and revisions throughout this new edition reflect the latest research and developments Numerous tables and diagrams encapsulate important information Updated references for each chapter topic Pathophysiology of Disease is a true must-have resource for medical students preparing for the USMLE Step 1 exam, as well as students engaged in their clerkship studies. House officers, nurses, nurse practitioners, physicians’ assistants, and allied health practitioners will find its concise presentation and broad scope a great help in facilitating their understanding of common disease entities.

Download or read book Human Genetics for the Social Sciences written by Gregory Carey and published by SAGE. This book was released on 2003 with total page 536 pages. Available in PDF, EPUB and Kindle. Book excerpt: Introduces psychology and other social science students to the role genetics play in the individual differences in human behaviour.

Download or read book Evolution of Translational Omics written by Institute of Medicine and published by National Academies Press. This book was released on 2012-09-13 with total page 354 pages. Available in PDF, EPUB and Kindle. Book excerpt: Technologies collectively called omics enable simultaneous measurement of an enormous number of biomolecules; for example, genomics investigates thousands of DNA sequences, and proteomics examines large numbers of proteins. Scientists are using these technologies to develop innovative tests to detect disease and to predict a patient's likelihood of responding to specific drugs. Following a recent case involving premature use of omics-based tests in cancer clinical trials at Duke University, the NCI requested that the IOM establish a committee to recommend ways to strengthen omics-based test development and evaluation. This report identifies best practices to enhance development, evaluation, and translation of omics-based tests while simultaneously reinforcing steps to ensure that these tests are appropriately assessed for scientific validity before they are used to guide patient treatment in clinical trials.

Download or read book Molecular Genetic Pathology written by Liang Cheng and published by Springer. This book was released on 2013-03-05 with total page 1136 pages. Available in PDF, EPUB and Kindle. Book excerpt: Molecular Genetic Pathology, Second Edition presents up-to-date material containing fundamental information relevant to the clinical practice of molecular genetic pathology. Fully updated in each area and expanded to include identification of new infectious agents (H1N1), new diagnostic biomarkers and biomarkers for targeted cancer therapy. This edition is also expanded to include the many new technologies that have become available in the past few years such as microarray (AmpliChip) and high throughput deep sequencing, which will certainly change the clinical practice of molecular genetic pathology. Part I examines the clinical aspects of molecular biology and technology, genomics. Poharmacogenomics and proteomics, while Part II covers the clinically relevant information of medical genetics, hematology, transfusion medicine, oncology, and forensic pathology. Supplemented with many useful figures and presented in a helpful bullet-point format, Molecular Genetic Pathology, Second Edition provides a unique reference for practicing pathologists, oncologists, internists, and medical genetisists. Furthermore, a book with concise overview of the field and highlights of clinical applications will certainly help those trainees, including pathology residents, genetics residents, molecular pathology fellows, internists, hematology/oncology fellows, and medical technologists in preparing for their board examination/certification.

Download or read book A Short History of Medical Genetics written by Peter S. Harper and published by Oxford University Press. This book was released on 2008 with total page 570 pages. Available in PDF, EPUB and Kindle. Book excerpt: "This book traces the development of genetics in medicine from the first descriptions of inherited diseases more than 300 years ago to the new applications resulting from mapping and sequencing the human genome. It follows both the scientific and the medical advances, focusing especially on those of the past 50 years, which have seen the field of medical genetics emerge as one of the foremost and most rapidly changing medical specialties, now influencing the whole of medicine. It also examines the ethical challenges faced by those working in the field, and describes some of the past disasters that have resulted from these being ignored, notably the abuses of eugenics and the catastrophic destruction of genetics in Soviet Russia. This is the first book of its kind; it is clearly and simply written, and will be valuable to all those who have an interest or concern in the development of medical genetics, as well as those actually working in the field. Historians and social scientists will likewise find this book an important foundation for future detailed studies, which are urgently needed."--BOOK JACKET.

Download or read book Fragile X Syndrome written by Rob Willemsen and published by Academic Press. This book was released on 2017-05-26 with total page 498 pages. Available in PDF, EPUB and Kindle. Book excerpt: Fragile X Syndrome: From Genetics to Targeted Treatment provides a structured overview of the molecular and clinical background of the disorder as well as treatment options. The book discusses the detailed molecular information on each of the pathways involved with sufficient details for all whose research touches this pathway. It provides a state-of-the-art update on all clinical aspects associated with this syndrome, including phenotype, diagnostics and epidemiology. It also includes an overview of the lessons learned from the preclinical research and pioneering trials on the fragile X syndrome for the investigators involved in clinical trials of neurodevelopmental disorders. This book is written for academic researchers, pharmaceutical investigators, and clinicians in the field who work on the disorder, and for researchers involved in clinical trials of the fragile X syndrome or related disorders. Provides a comprehensive overview of the molecular genetics, clinical trials, and treatment of Fragile X Syndrome Written for academic researchers, pharmaceutical investigators, and clinicians in the field Edited by international leaders in the field who have contributed greatly to the study of Fragile X Syndrome Directs the reader through complex issues surrounding FXS and draws the literature together for researchers and clinicians

Download or read book Equine Sports Medicine and Surgery written by Kenneth W Hinchcliff and published by Elsevier Health Sciences. This book was released on 2013-07-01 with total page 1320 pages. Available in PDF, EPUB and Kindle. Book excerpt: Equine Sports Medicine and Surgery provides the most up-to-date, in-depth coverage of the basic and clinical sciences required for management of the equine athlete. The unique treatment of exercise physiology and training within a clinical context, together with detailed review of all diseases affecting athletic horses, makes this the most comprehensive text available. The book will provide a thorough grounding in the basic physiology of each body system, and in particular the responses of each body system to exercise and training, that will be separate, but highly relevant to, the succeeding sections on clinical disorders of each body system. The highly respected editors have brought together an internationally renowned team of 50 contributors, producing the ultimate reference for veterinarians, students, horse-owners, and all those involved in the world of equine athletics. High quality artwork, including relevant radiographic, ultrasonographic, CAT scan, and MRI images, aid understanding and diagnosis Provides a truly international perspective, including guidelines pertinent to different geographic areas, and racing jurisdictions In-depth coverage of the role of the veterinarian in the management of athletic horses Explores the use of complementary therapies ~

Download or read book Advances in Experimental Social Psychology written by and published by Academic Press. This book was released on 2017-01-13 with total page 340 pages. Available in PDF, EPUB and Kindle. Book excerpt: Advances in Experimental Social Psychology, Volume 55, the latest release in this highly cited series in the field contains contributions of major empirical and theoretical interest that represent the best and brightest in new research, theory, and practice in social psychology. This serial is part of the Social Sciences package on ScienceDirect, and is available online beginning with volume 32 onward. Provides one of the most sought after and cited series in the field of experimental social psychology Contains contributions of major empirical and theoretical interest Represents the best and the brightest in new research, theory, and practice in social psychology

Download or read book Genetics in Medicine written by James Scott Thompson and published by Philadelphia ; Toronto : W.B. Saunders. This book was released on 1973 with total page 424 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Download or read book Law s Virtues written by Cathleen Kaveny and published by Georgetown University Press. This book was released on 2012-09-20 with total page 306 pages. Available in PDF, EPUB and Kindle. Book excerpt: Can the law promote moral values even in pluralistic societies such as the United States? Drawing upon important federal legislation such as the Americans with Disabilities Act, legal scholar and moral theologian Cathleen Kaveny argues that it can. In conversation with thinkers as diverse as Thomas Aquinas, Pope John Paul II, and Joseph Raz, she argues that the law rightly promotes the values of autonomy and solidarity. At the same time, she cautions that wise lawmakers will not enact mandates that are too far out of step with the lived moral values of the actual community. According to Kaveny, the law is best understood as a moral teacher encouraging people to act virtuously, rather than a police officer requiring them to do so. In Law’s Virtues Kaveny expertly applies this theoretical framework to the controversial moral-legal issues of abortion, genetics, and euthanasia. In addition, she proposes a moral analysis of the act of voting, in dialogue with the election guides issued by the US bishops. Moving beyond the culture wars, this bold and provocative volume proposes a vision of the relationship of law and morality that is realistic without being relativistic and optimistic without being utopian.

Download or read book Biology Medicine and Surgery of South American Wild Animals written by Murray Fowler and published by John Wiley & Sons. This book was released on 2008-08-06 with total page 536 pages. Available in PDF, EPUB and Kindle. Book excerpt: Biology, Medicine and Surgery of South American Wild Animals examines the medicine and treatment of animals specific to South America. It discusses topics dealing with diseases and biology topics. In addition, the animals studied are broken down into family and genus, using both English and Spanish names. The book is liberally illustrated and contains references for further reading as well as the contributions of regional experts on the animals covered.

Download or read book Mast Cell Biology written by Alasdair M. Gilfillan and published by Springer Science & Business Media. This book was released on 2011-06-28 with total page 312 pages. Available in PDF, EPUB and Kindle. Book excerpt: The editors of Mast Cell Biology, Drs. Gilfillan and Metcalfe, have enlisted an outstanding group of investigators to discuss the emerging concepts in mast cell biology with respect to development of these cells, their homeostasis, their activation, as well as their roles in maintaining health on the one hand and on the other, their participation in disease.

Download or read book Genetic Discrimination written by Gerard Quinn and published by Routledge. This book was released on 2014-11-20 with total page 301 pages. Available in PDF, EPUB and Kindle. Book excerpt: As genetic technologies advance, genetic testing may well offer the prospect of detecting the onset of future disabilities. Some research also forwards that certain behavioural profiles may have a strong genetic basis, such as the determination to succeed, or the propensity for risk-taking. As this technology becomes more prevalent, there is a danger that genetic information may be misused by third parties and that particular genetic profiles may be discriminated against by employers, by providers of social goods and services, such as insurance companies and even by educational facilities. This book explores the different forms and potential uses of genetic testing. Drawing together leading experts in disability law, bioethics, health law and a range of related fields, it highlights the ethical and legal challenges arising as a result of emerging and rapidly advancing genetic science. On examining transatlantic perspectives on the matter, chapters in the book ask whether the US Genetic Information Nondiscrimination Act (GINA) is proving to be an effective tool in addressing the issue of genetic discrimination and alleviating fears of discrimination. The book also reviews what insights may be gained from GINA within employment and health insurance contexts, and asks how the UN Convention on the Rights of Persons with Disabilities (CRPD) may impact similar debates within the European Union. The book focuses particularly on the legislative and policy framework in the European Union, with an emphasis on the gaps in protection and the scope for specific legislative action in this area. This book will be of great interest to scholars and students of discrimination law, bioethics and disability law, and will be of considerable use to legal practitioners, medical practitioners and policy-makers in this area.

Download or read book Evaluation and Management of Cleft Lip and Palate written by David J. Zajac and published by Plural Publishing. This book was released on 2016-02-15 with total page 433 pages. Available in PDF, EPUB and Kindle. Book excerpt: Evaluation and Management of Cleft Lip and Palate: A Developmental Perspectiveprovides fundamental knowledge of cleft palate anomalies and the current state of evidence-based practice relative to evaluation and management. This text contains information on the standard of care for children born with craniofacial anomalies from a developmental perspective along with clinical case studies to help facilitate understanding of the material. This graduate-level text targets speech-language pathology students, as well as audiology students, medical students, and graduate students studying communication disorders. Why adopt this textbook: Provides a developmental focus that provides a better understanding of the nature of craniofacial problems and the timetable for management and treatmentCovers material in a data-driven and evidenced based format, blending scholarly and clinical informationWell-illustrated with clear colored pictures-many of which are actual structures and people rather than line drawings-including pre- and post-treatment resultsPresents the role of the speech-language pathologist in all aspects of care (i.e., before and after surgery from infancy to adulthood)Emphasizes oral conditions (dental and occlusal) that impact speech in the school-aged childFull color text with more than 200 images Compared with other textbooks this book covers: An entire chapter devoted to adults with cleft lip and palate underscoring quality of lifeAn entire chapter on the school-aged childA detailed chapter devoted to alveolar bone graft with detailed photo illustration and discussion of treatment outcomeDetailed chapter on maxillary advancement with detailed photos, discussion of treatment outcomes related to speech, airway, and hearingPresentation of surgical treatment based on development ageChapter on hearing offers a practical approach to ear problems and hearing loss associated with cleft and craniofacial anomalies, and provides a summary of hearing tests that should be familiar to the reader and suggestions about counseling familiesChapters on Speech Characteristics and Assessment are written from a speech science perspective and evidence-based

Download or read book A Guide to Genetic Counseling written by Wendy R. Uhlmann and published by John Wiley & Sons. This book was released on 2011-09-20 with total page 644 pages. Available in PDF, EPUB and Kindle. Book excerpt: The first book devoted exclusively to the principles and practice of genetic counseling—now in a new edition First published in 1998, A Guide to Genetic Counseling quickly became a bestselling and widely recognized text, used nationally and internationally in genetic counseling training programs. Now in its eagerly anticipated Second Edition, it provides a thoroughly revised and comprehensive overview of genetic counseling, focusing on the components, theoretical framework, and unique approach to patient care that are the basis of this profession. The book defines the core competencies and covers the genetic counseling process from case initiation to completion—in addition to addressing global professional issues—with an emphasis on describing fundamental principles and practices. Chapters are written by leaders in the field of genetic counseling and are organized to facilitate academic instruction and skill attainment. They provide the most up-to-date coverage of: The history and practice of genetic counseling Family history Interviewing Case preparation and management Psychosocial counseling Patient education Risk communication and decision-making Medical genetics evaluation Understanding genetic testing Medical documentation Multicultural counseling Ethical and legal issues Student supervision Genetic counseling research Professional development Genetics education and outreach Evolving roles and expanding opportunities Case examples A Guide to Genetic Counseling, Second Edition belongs on the syllabi of all medical and human genetics and genetic counseling training programs. It is an indispensable reference for both students and healthcare professionals working with patients who have or are at risk for genetic conditions.