Medical Genetics in Pediatric Practice PDF Download

Author: American Academy of Pediatrics
Publisher:
ISBN: 9781581104967
Category : Genetic screening
Languages : en
Pages : 0

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Book Description
Embodying current Policy of the American Academy of Pediatrics (AAP), this all-new resource provides practice-focused help for addressing virtually any genetics-related issue you're likely to confront. It's replete with expert insights, pediatric-specific solutions, and quick-access aids you won't find anywhere else. Consult this one-stop problem-solver for: - Must-know basics on genetic processes, inheritance patterns, and genetic testing - Concise summaries of common genetic disorders - Recognition, evaluation, diagnosis, and treatment how-to's - Illuminating images of anomalies that may indicate genetic conditions - Case-based examples of ethical issues Here's the how, why, where, and when of pediatric genetic care: - How to recognize diverse genetic disorders - How to take a complete genetic history - How to spot at-risk patients - Why to create a pedigree - When to consider a genetic evaluation - How to conduct genetic screening and testing - How to identify appropriate therapeutic approaches - Where to find critical resources - When to refer to a geneticist - And much more

Author: Mohnish Suri
Publisher: Remedica
ISBN: 1901346633
Category : Medical
Languages : en
Pages : 322

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Book Description
Annotation Pediatricians, medical geneticists, genetics counselors. Genetic testing now plays an important role in the investigation of almost every child who presents with one of the many commonly inherited disorders that make a major contribution to pediatric morbidity and mortality throughout the world. It can be difficult for even the most conscientious practitioner to keep abreast of developments and to appreciate both the significance and relevance of some of the major discoveries of recent years. The number of conditions that have been mapped or in which the causative gene has been isolated is vast. In this book, coverage has been restricted to the more common single-gene disorders that are likely to be encountered in general pediatric practice, with particular attention focused on those in which molecular analysis can play an important role in the diagnosis or management of a child and his or her family.

Author: Dilip R. Patel
Publisher: McGraw Hill Professional
ISBN: 0071641335
Category : Medical
Languages : en
Pages : 549

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Book Description
A treatment-focused guide for sports-related health issues in children and adolescents JAMA REVIEW! "The editors are outstanding, experienced physicians with a great wealth of knowledge as well as practical proficiency in this field. The other contributors are also first-rate authors, and all have done a wonderful job in researching the subjects and writing them up in a way that is easy to read and understand. I firmly believe that Pediatric Practice Sports Medicine will quickly become the favorite of students, residents, and primary care clinicians. It will be embraced because of its ease of use and its valuable, practical contents. I am sure it will find its way to medical libraries throughout the nation or world and to most offices for primary care clinicians. I would recommend this book for anyone dealing with pediatric and adolescent patients, even if that interaction takes place only a few times per year. I think that this will be a must-have reference for pediatricians, family practitioners, student health clinicians, pediatric and family nurse practitioners, and physician assistants and anyone working with children and adolescents."--Journal of the American Medical Association 4 STAR DOODY'S REVIEW " The book does an outstanding job of describing the etiology, presentation, evaluation, and treatment of various problems, providing a quick and valuable resource for practitioners....This is a well organized, comprehensive book that will prove useful to any primary care physician who treats younger athletes. The detailed discussions of common problems supplemented by numerous illustrations and tables will simplify the often challenging task of caring for this demanding patient population."--Doody's Review Service "Pediatric Practice: Sports Medicine is a 'must-have' book for every medical practitioner who provides care to children and adolescents."--Sandra J. Hoffmann, MD, MS, FACSM, FACP, Fellow of the American College of Sports Medicine, Board of Trustees (2006-2009) of the American College of Sport Medicine, Associate Professor, Dept. of Family Medicine, Idaho State University School of Medicine (from the foreword) Pediatric Practice: Sports Medicine explains the practical aspects of treating children who participate in sports. The authors cover everything from screening and safety issues to the treatment of sports-related injuries and trauma. How to manage patients with medical conditions that impact sports participation is also included. Providing critical information about what you need to know and do in virtually any case, this book also offers valuable perspectives on pathophysiology, epidemiology, and diagnosis. This full color guide is designed to ensure quick, easy searches for treatment directives. Perfect for pediatricians, family practice physicians, and nurse practitioners, Pediatric Practice: Sports Medicine is the handiest and most comprehensive guide available for treating children participating in sports of all kinds. Features of the Pediatric Practice Series: More than 450 full-color illustrations Tips that tell you what you must know--and what you must do--at every stage of care Diagnostic and treatment algorithms Signs/Symptoms and Differential Diagnosis boxes "What to Refer" boxes, which examine all the relevant clinical considerations Diagnostic Tests--with a realistic emphasis on the right tests to order Medical Treatment coverage that includes drugs, dosages, and administration in an easy-to-read tabular format Convenient icons and a templated chapter design

Author: Reed E. Pyeritz
Publisher: Elsevier
ISBN: 0128152354
Category : Medical
Languages : en
Pages : 1227

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Book Description
For decades, Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics has served as the ultimate resource for clinicians integrating genetics and genomics into medical practice. With detailed coverage in contributions from more than 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 sequencing, public health genetics, genetic counseling, and management and treatment strategies to complete its coverage of this growing field for students, health providers, and researchers involved in the care of patients with genetic conditions, and increasingly, all areas of health and disease. This comprehensive yet practical resource emphasizes theory and research fundamentals related to the applications of medical genetics and genomics across the full spectrum of inherited disorders and applications to medicine more broadly. In this volume, leading physicians and researchers thoroughly examine medical genetics and genomics as applied to developmental disorders, as well as genetic conditions that affect hearing and vision. Here genetic researchers, students, and health professionals will find new and fully revised chapters on human developmental genetics, disorders affecting craniofacial development, chromosomal abnormalities, including aneuploidies and structural abnormalities, hereditary hearing impairment, and various genetic conditions of the eye. 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. · Thoroughly introduces genetic researchers, students, and healthcare professionals to the principles of human developmental genetics · Examines a wide range of developmental disorders, including craniofacial development as well as disorders affecting hearing and vision · Includes color images supporting identification, concept illustration, and method processing · Features contributions by leading international researchers and practitioners of medical genetics

Author: G. Bradley Schaefer
Publisher: McGraw Hill Professional
ISBN: 0071819282
Category : Medical
Languages : en
Pages : 385

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Book Description
A complete introductory text on how to integrate basic genetic principles into the practice of clinical medicine Medical Genetics is the first text to focus on the everyday application of genetic assessment and its diagnostic, therapeutic, and preventive implications in clinical practice. It is intended to be a text that you can use throughout medical school and refer back to when questions arise during residency and, eventually, practice. Medical Genetics is written as a narrative where each chapter builds upon the foundation laid by previous ones. Chapters can also be used as stand-alone learning aids for specific topics. Taken as a whole, this timely book delivers a complete overview of genetics in medicine. You will find in-depth, expert coverage of such key topics as: The structure and function of genes Cytogenetics Mendelian inheritance Mutations Genetic testing and screening Genetic therapies Disorders of organelles Key genetic diseases, disorders, and syndromes Each chapter of Medical Genetics is logically organized into three sections: Background and Systems – Includes the basic genetic principles needed to understand the medical application Medical Genetics – Contains all the pertinent information necessary to build a strong knowledge base for being successful on every step of the USMLE Case Study Application – Incorporates case study examples to illustrate how basic principles apply to real-world patent care Today, with every component of health care delivery requiring a working knowledge of core genetic principles, Medical Genetics is a true must-read for every clinician.

Author: Peter S. Harper
Publisher: Oxford University Press
ISBN: 0195187504
Category : Language Arts & Disciplines
Languages : en
Pages : 570

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Book Description
"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.

Author: Nathaniel H. Robin
Publisher: Elsevier Health Sciences
ISBN: 0323495966
Category : Medical
Languages : en
Pages : 135

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Book Description
Get a quick, expert overview of the many key facets of pediatric cancer genetics with this concise, practical resource by Dr. Nathaniel H. Robin and Meagan Farmer, MS, CGC, MBA. Ideal for pediatric oncologists and all providers who care for children, this easy-to-read reference addresses the remarkable potential of genetic testing as well as the complexities of choosing the correct test, understanding the results, and counseling the family. - Features a wealth of information on pediatric cancer genetics, including the epidemiology and biology of cancer and the genetic evaluation process and role of genetic counsellors - Highlights examples of syndromes that present in childhood and increase susceptibility to cancer - Discusses the genetic evaluation process in context of the multidisciplinary care of children with cancer - Considers the ethical and legal issues of genetic testing in children and provides illustrative case examples - Consolidates today's available information and guidance in this timely area into one convenient resource - Features a wealth of information on pediatric cancer genetics, including the epidemiology and biology of cancer and the genetic evaluation process and role of genetic counselors. - Highlights examples of syndromes that present in childhood and increase susceptibility to cancer. - Discusses the genetic evaluation process in context of the multidisciplinary care of children with cancer. - Considers the ethical and legal issues of genetic testing in children and provides illustrative case examples. - Consolidates today's available information and guidance in this timely area into one convenient resource.

Author: David L. Rimoin
Publisher:
ISBN:
Category : Genetic disorders
Languages : en
Pages : 1264

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Book Description
"For decades, Emery and Rimoin's Principles and Practice of Medical Genetics has provided the ultimate source for practicing clinicians to learn how the study of genetics can be integrated into practice. With advances in high-throughput technologies propelling the closer integration of lab and clinical work, this 6e bridges the gap between high-level molecular genetics and individual application. This comprehensive yet practical resource emphasizes theory and research fundamentals related to applications of medical genetics across the full spectrum of inherited disorders. Clinically oriented information is supported by expanded sections on basic principles of genetics, research approaches, and analytics to embrace the evolving population of students, researchers, and practitioners who are integrating their work to provide advanced diagnosis, prevention and treatment of human disease. Over 250 of the world's most trusted authorities in medical genetics will contribute to the new release of the revised electronic edition of the work. Regular updates and the integration of teaching tools such as videos and graphics will distinguish this work from the competition. Links to sites such as Online Mendelian Inheritance in Man (OMIM) and similar sites that provide up-to-date information on human genes and genetic phenotypes will make this product the ultimate source for students, researchers, and practitioners alike."--Publisher's website.

Author: Christine E. Kasper, PhD, RN, FAAN
Publisher: Springer Publishing Company
ISBN: 0826129137
Category : Medical
Languages : en
Pages : 531

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Book Description
Completely updated to help nurses learn to ìthink geneticallyî Todayís nurses must be able to ìthink geneticallyî to help individuals and families who are affected by genetic disease or contemplating genetic testing. This book is a classic resource for nursing students and practitioners at all levels who need to acquire the knowledge and skills for using genomics in their practice. This completely updated second edition encompasses the many recent advances in genetic research and knowledge, providing essential new information on the science, technology, and clinical application of genomics. It focuses on the provision of individualized patient care based on personal genetics and dispositions. The second edition is designed for use by advanced practice nursing programs, as well as undergraduate programs. It pinpoints new developments in prenatal, maternity, and pediatric issues and supplies new information on genomics-based personal drug therapy, environmental susceptibilities, genetic therapies, epigenetics, and ethics The text features a practical, clinically oriented framework in line with the core competencies defined by the AACN. It delivers information according to a lifespan approach used in the practice setting. The second edition continues to provide basic information on genomics, its impact on healthcare, and genetic disorders. It covers prevention, genetic counseling and referral, neuropsychiatric nursing, and public health. The core of the text presents information on a variety of diseases that affect patients throughout the lifespan, with specific guidance on the nursing role. Also included are tests for a variety of diseases and information on pharmacogenomics, which enable health care providers to select the best drugs for treatment based on a patientís genetic makeup. Plentiful case study examples support the information throughout. Additionally, an instructorís package of PowerPoint slides and a test bank are provided for use at both the graduate and undergraduate levels. New to the Second Edition: Completely updated with several new chapters Personal drug therapy based on genomics Environmental susceptibilities Prenatal detection and diagnosis Newborn and genetic screening Reproductive technologies Ethical issues Genetic therapies Epigenetics Content for graduate-level programs PowerPoint slides and a test bank for all student levels Key Features: Encompasses state-of-the-art genomics from a nursing perspective Provides a practical, clinically oriented lifespan approach Covers science, technology, and clinical application of genomics Addresses prevention, genetic testing, and treatment methods Written for undergraduate- and graduate-level nursing students

Author: Julia A. McMillan
Publisher: Lippincott Williams & Wilkins
ISBN: 9780781738941
Category : Medical
Languages : en
Pages : 2870

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Book Description
A comprehensive guide to the current practice of pediatric care, this updated edition includes new chapters on complementary and alternative medicine, genetics in primary care, and updated chapters regarding infant and child behavior and development.