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Medical Genetics In Pediatric Practice
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Book Synopsis Medical Genetics in Pediatric Practice by : American Academy of Pediatrics
Download or read book Medical Genetics in Pediatric Practice written by American Academy of Pediatrics and published by . This book was released on 2013 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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
Book Synopsis Genetics for Pediatricians by : Mohnish Suri
Download or read book Genetics for Pediatricians written by Mohnish Suri and published by Remedica. This book was released on 2005 with total page 322 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Book Synopsis Pediatric Genetics and Inborn Errors of Metabolism by : Christine M. Houser
Download or read book Pediatric Genetics and Inborn Errors of Metabolism written by Christine M. Houser and published by Springer Science & Business Media. This book was released on 2014-04-12 with total page 139 pages. Available in PDF, EPUB and Kindle. Book excerpt: Often, information in review books can raise as many questions as it answers. This interferes with the study process, because the learner must either look up additional information or skip ahead without truly comprehending what he or she has read. As an alternative, Pediatric Genetics and Inborn Errors of Metabolism: A Practically Painless Review presents bite-size chunks of information that can be read and processed rapidly, helping learners to stay active while studying and to pick up new information the first time they read it. This book's question and answer format allows for self-testing or study with a partner or a group. The format also facilitates dipping into the book during a few minutes of downtime at the hospital or office. Pediatric Genetics and Inborn Errors of Metabolism: A Practically Painless Review is a quick and easy way to master these tricky topics and is suitable for those studying for the pediatric board exam, practicing physicians brushing up their skills and any busy clinician who wants to learn more about these topics while on the go.
Book Synopsis Pediatric Cancer Genetics by : Nathaniel H. Robin
Download or read book Pediatric Cancer Genetics written by Nathaniel H. Robin and published by Elsevier Health Sciences. This book was released on 2017-08-22 with total page 350 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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 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.
Book Synopsis A Short History of Medical Genetics by : Peter S. Harper
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.
Book Synopsis Pediatric Genetics, An Issue of Pediatric Clinics of North America, E-Book by : Anne Slavotinek
Download or read book Pediatric Genetics, An Issue of Pediatric Clinics of North America, E-Book written by Anne Slavotinek and published by Elsevier Health Sciences. This book was released on 2023-09-14 with total page 211 pages. Available in PDF, EPUB and Kindle. Book excerpt: In this issue, guest editors bring their considerable expertise to this important topic. Provides in-depth reviews on the latest updates in the field, providing actionable insights for clinical practice. Presents the latest information on this timely, focused topic under the leadership of experienced editors in the field. Authors synthesize and distill the latest research and practice guidelines to create these timely topic-based reviews.
Book Synopsis Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics by : Reed E. Pyeritz
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 2021-11-02 with total page 320 pages. Available in PDF, EPUB and Kindle. Book excerpt: Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics: Perinatal and Reproductive Genetics, Seventh Edition 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 in this growing field. The book is ideal 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. Chapters from leading international researchers and clinicians focus on topics ranging from single gene testing to whole genome sequencing, whole exome sequencing, gene therapy, genome editing approaches, FDA regulations on genomic testing and therapeutics, and ethical aspects of employing genomic technologies. Fully revised and up-to-date, this new edition introduces genetic researchers, students and healthcare professionals to genomic technologies, testing and therapeutic applications Examines key topics and developing methods within genomic testing and therapeutics, including single gene testing, whole genome and whole exome sequencing, gene therapy and genome editing, variant Interpretation and classification, and ethical aspects of applying genomic technologies Includes color images that support the identification, concept illustration, and method of processing Features contributions by leading international researchers and practitioners of medical genetics Provides a robust companion website that offers further teaching tools and links to outside resources and articles to stay up-to-date on the latest developments in the field
Book Synopsis Emery and Rimoin's Principles and Practice of Medical Genetics by : David L. Rimoin
Download or read book Emery and Rimoin's Principles and Practice of Medical Genetics written by David L. Rimoin and published by . This book was released on 2007 with total page 1264 pages. Available in PDF, EPUB and Kindle. Book excerpt: "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.
Book Synopsis Oski's Pediatrics by : Julia A. McMillan
Download or read book Oski's Pediatrics written by Julia A. McMillan and published by Lippincott Williams & Wilkins. This book was released on 2006 with total page 2870 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Author :Christine E. Kasper, PhD, RN, FAAN, FACSM Publisher :Springer Publishing Company ISBN 13 :0826129137 Total Pages :425 pages Book Rating :4.8/5 (261 download)
Book Synopsis Lashley's Essentials of Clinical Genetics in Nursing Practice, Second Edition by : Christine E. Kasper, PhD, RN, FAAN, FACSM
Download or read book Lashley's Essentials of Clinical Genetics in Nursing Practice, Second Edition written by Christine E. Kasper, PhD, RN, FAAN, FACSM and published by Springer Publishing Company. This book was released on 2015-09-16 with total page 425 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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
Book Synopsis Psychiatric Genetics by : Jordan W. Smoller
Download or read book Psychiatric Genetics written by Jordan W. Smoller and published by American Psychiatric Pub. This book was released on 2009-02-20 with total page 340 pages. Available in PDF, EPUB and Kindle. Book excerpt: As more patients seek information about family risks of psychiatric illness -- an interest likely to increase as gene-identification studies are publicized -- most psychiatrists agree it is their role to discuss these issues but admit they are ill-prepared to do so. Psychiatric Genetics addresses that need as the first book to focus on clinical applications of genetics in psychiatry. It covers issues involved in genetic counseling, the interpretation of familial and genetic information for clinical use, information regarding risks associated with specific psychiatric disorders, risk/benefit considerations related to medication use during pregnancy, and the ethical and social implications of psychiatric genetic knowledge and research -- including the prospects for genetic testing. While other books have been written for the genetics community, this volume is addressed to practitioners: a clinically relevant resource that can help them understand the often bewildering flood of information about genetics -- information difficult to interpret, let alone integrate into practice -- and enable them to respond to patients' requests to predict the risk of recurrence of psychiatric illness or provide information about reproductive and pregnancy-related issues. Experts from psychiatry, genetic epidemiology, molecular genetics, genetic counseling, cognitive psychology, and ethics focus on issues that have received little attention elsewhere yet are of increasing importance to clinicians. Written at a level that assumes no particular expertise in genetics, the book features these immediately applicable benefits: It offers a framework for understanding and critically evaluating the psychiatric genetic research literature, enabling clinicians to better understand the meaning and limitations of genetic discoveries when patients raise questions about media reports. It provides a resource for clinicians who would like more information about the role and content of genetic counseling, outlining a typical counseling session while demonstrating how risks are estimated and discussed. It summarizes genetic aspects of major psychiatric conditions -- from childhood-onset disorders through psychotic, mood, and anxiety disorders to dementia -- as well as neuropsychiatric manifestations of other genetic disorders. It alerts clinicians to risk/benefit considerations related to medication use during pregnancy. It covers the ethical, legal, and social implications of genetic research and counseling, illustrating the dilemmas that arise with new advances. Whether used as a clinical guide, reference, or ancillary text, this book sets the standard for the application of psychiatric genetic knowledge in everyday practice. Psychiatrists, mental health clinicians, and genetic counselors will find it an essential resource for all patient encounters in which genetic issues arise.
Book Synopsis The Genetic Testing of Children by : Angus Clarke
Download or read book The Genetic Testing of Children written by Angus Clarke and published by Garland Science. This book was released on 2020-07-26 with total page 390 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Book Synopsis Genomics in the Clinic by : Antonie D. Kline
Download or read book Genomics in the Clinic written by Antonie D. Kline and published by Academic Press. This book was released on 2023-11-04 with total page 622 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genomics in the Clinic: A Practical Guide to Genetic Testing, Evaluation, and Counseling illustrates the current scope of the practice of genetics for healthcare professionals, so they can understand principles applicable to genetic testing and consultation. Written by an authoritative well-balanced team, including experienced clinical geneticists, genetic counselors, and medical subspecialists, this book adopts an accessible, easy-to-follow format. Sections are dedicated to basic genetic principles; clinical genetic and genomic testing; prenatal, clinical and cancer genetic diagnosis and counseling; and ethical and social implications in genomic medicine. Over 100 illustrative cases examine a range of prenatal, pediatric and adult genetic conditions and testing, putting these concepts and approaches into practice. Genomics in the Clinic: A Practical Guide to Genetic Testing, Evaluation, and Counseling is important for primary care providers, as patient care evolves in the current genomic-influenced world of precision medicine. Clearly explains central concepts of genetic testing and genomic medicine for non-genetic physicians, healthcare providers, and trainees Offers clear steps for clinical integration of genetic concepts, genomic technology, and interpretation of genetic test results approachable and relevant to clinical practice Descriptive, applied case studies illustrate recommended genetic evaluation, counseling and management for a range of conditions throughout the lifetime
Book Synopsis Medical Genetics by : G. Bradley Schaefer
Download or read book Medical Genetics written by G. Bradley Schaefer and published by McGraw Hill Professional. This book was released on 2013-11-22 with total page 452 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Book Synopsis Precision Medicine for Investigators, Practitioners and Providers by : Joel Faintuch
Download or read book Precision Medicine for Investigators, Practitioners and Providers written by Joel Faintuch and published by Academic Press. This book was released on 2019-11-16 with total page 640 pages. Available in PDF, EPUB and Kindle. Book excerpt: Precision Medicine for Investigators, Practitioners and Providers addresses the needs of investigators by covering the topic as an umbrella concept, from new drug trials to wearable diagnostic devices, and from pediatrics to psychiatry in a manner that is up-to-date and authoritative. Sections include broad coverage of concerning disease groups and ancillary information about techniques, resources and consequences. Moreover, each chapter follows a structured blueprint, so that multiple, essential items are not overlooked. Instead of simply concentrating on a limited number of extensive and pedantic coverages, scholarly diagrams are also included. Provides a three-pronged approach to precision medicine that is focused on investigators, practitioners and healthcare providers Covers disease groups and ancillary information about techniques, resources and consequences Follows a structured blueprint, ensuring essential chapters items are not overlooked
Book Synopsis Principles and Practice of Pediatric Oncology by : Philip A. Pizzo
Download or read book Principles and Practice of Pediatric Oncology written by Philip A. Pizzo and published by Lippincott Williams & Wilkins. This book was released on 2015-06-24 with total page 5113 pages. Available in PDF, EPUB and Kindle. Book excerpt: Now thoroughly updated to include new advances in the field,and with regular content updates to the eBook, Principles and Practice of Pediatric Oncology, 7th Edition remains the gold standard text for the care and research of children with cancer. This authoritative reference is the single most comprehensive resource on the biology and genetics of childhood cancer and the diagnosis, multimodal treatment, and long-term management of young patients with cancer. Also addressed are a broad array of topics on the supportive and psychosocial aspects of care of children and families. Covering virtually every aspect of the breadth and depth of childhood cancer, this 7th Edition provides expert guidance on state-of-the-art, multidisciplinary care for children and families. Stay up to date with the most recent advances in the field with the contributions by new and returning contributors, including the perspective from patients and parents in the chapter titled “The Other Side of the Bed.” Reference your eBook version for key updates in the field during the life of the edition! Chapters included on palliative care and education. Supportive care is covered broadly and specifically – in contexts such as emergencies, infectious disease, and nutrition. The most updated and authoritative information is provided by the leading experts in the field. Gain a thorough understanding of every aspect of pediatric oncology, with comprehensive information regarding basic science, diagnostic tools, principles of treatment, and clinical trials, as well as highly detailed, definitive coverage of each pediatric malignancy. Collaborate more effectively with others on the cancer care team to enhance quality-of-life issues for patients and families. Understand the cooperative nature of pediatric oncology as a model for cancer research with information from cooperative clinical trial groups and consortia.
Book Synopsis A Guide to Genetic Counseling by : Wendy R. Uhlmann
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.
