Medical Genetics in Pediatric Practice PDF Download
Are you looking for read ebook online? Search for your book and save it on your Kindle device, PC, phones or tablets. Download Medical Genetics in Pediatric Practice PDF full book. Access full book title Medical Genetics in Pediatric Practice by American Academy of Pediatrics. Download full books in PDF and EPUB format.
Author: American Academy of Pediatrics Publisher: ISBN: 9781581104967 Category : Genetic screening Languages : en Pages : 0
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: American Academy of Pediatrics Publisher: ISBN: 9781581104967 Category : Genetic screening Languages : en Pages : 0
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: Reed E. Pyeritz Publisher: Academic Press ISBN: 0128152370 Category : Science Languages : en Pages : 320
Book Description
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
Author: D. J. Weatherall Publisher: Oxford University Press, USA ISBN: Category : Medical Languages : en Pages : 396
Book Description
The book introduces non-specialist readers to the principles and scientific background which have provided insight into the study of human genes and their structure, activity, and role in normal and abnormal protein synthesis. This knowledge leads to clearer understanding of the molecular pathology of disease and to an awareness of potential applications to diagnosis and the development of therapeutic techniques.
Author: Genetic Alliance Publisher: Lulu.com ISBN: 0982162219 Category : Biology Languages : en Pages : 104
Book Description
The purpose of this manual is to provide an educational genetics resource for individuals, families, and health professionals in the New York - Mid-Atlantic region and increase awareness of specialty care in genetics. The manual begins with a basic introduction to genetics concepts, followed by a description of the different types and applications of genetic tests. It also provides information about diagnosis of genetic disease, family history, newborn screening, and genetic counseling. Resources are included to assist in patient care, patient and professional education, and identification of specialty genetics services within the New York - Mid-Atlantic region. At the end of each section, a list of references is provided for additional information. Appendices can be copied for reference and offered to patients. These take-home resources are critical to helping both providers and patients understand some of the basic concepts and applications of genetics and genomics.
Author: David L. Rimoin Publisher: ISBN: Category : Genetic disorders Languages : en Pages : 1264
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: Shweta Dhar Publisher: Academic Press ISBN: 0128173459 Category : Science Languages : en Pages : 530
Book Description
Handbook of Clinical Adult Genetics and Genomics: A Practice-Based Approach provides a thorough overview of genetic disorders that are commonly encountered in adult populations and supports the full translation of adult genetic and genomic modalities into clinical practice. Expert chapter authors supplement foundational knowledge with case-based strategies for the evaluation and management of genetic disorders in each organ system and specialty area. Topics discussed include employing genetic testing technologies, reporting test results, genetic counseling for adult patients, medical genetics referrals, issues of complex inheritance, gene therapy, and diagnostic and treatment criteria for developmental, cardiovascular, gastrointestinal, neuropsychiatric, pulmonary issues, and much more. Employs clinical case studies to demonstrate how to evaluate, diagnosis and treat adult patients with genetic disorders Offers a practical framework for establishing an adult genetics clinic, addressing infrastructure, billing, counseling, and challenges unique to adult clinical genetics Features chapter contributions from authors at leading adult genetics institutions in the US and abroad
Author: Sylvia Schild Publisher: Psychology Press ISBN: 9780866561938 Category : Medical Languages : en Pages : 190
Book Description
A significant contribution to professional training, Social Work and Genetics is a guide to social work practice with clients who have genetic problems. Through their rich clinical experiences in genetic counseling, the authors provide a valuable body of knowledge for other professionals who must help individuals and their families cope with the dilemmas occurring as a result of the presence of a possible or real genetic defect or disease. Social work students, practicing social workers, and professionals from various other disciplines will glean an enormous amount of information on basic genetic principles and issues.
Author: Christine E. Kasper, PhD, RN, FAAN, FACSM Publisher: Springer Publishing Company ISBN: 0826129137 Category : Medical Languages : en Pages : 425
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: Barbara B. Biesecker Publisher: Oxford University Press, USA ISBN: 0190626429 Category : Medical Languages : en Pages : 241
Book Description
A CRITICAL NEW APPROACH FOR LEARNING AND THRIVING IN A FIELD OF CHANGE The scope and responsibilities of today's genetic counselors exceed the reasonable capacity of any one educational resource. While the field's first-year curriculum may be relatively fixed, the landscape of what comes after that -- a dizzying mix of practice, ethics, research design, and professional competencies -- is increasingly broad. Advanced Genetic Counseling offers an overdue extension of the field's core curriculum. From navigating ethical dilemmas and potential conflicts of interest to confronting the biases and patterns of thought that can limit counselors' interactions with clients, it prepares readers to face the profession's most challenging aspects with confidence. Drawing on techniques from psychotherapy, social psychology, and health behavior, Advanced Genetic Counseling is an essential resource for trainees and mid-career professionals. It offers a roadmap not just for addressing client needs, but for the future of genetic counseling education.
Author: American Academy of Pediatrics
Author: American Academy of Pediatrics
Author: Reed E. Pyeritz
Author: D. J. Weatherall
Author: Genetic Alliance
Author: David L. Rimoin
Author: Shweta Dhar
Author: Sylvia Schild
Author: Christine E. Kasper, PhD, RN, FAAN, FACSM
Author: Barbara B. Biesecker
Author: International Society of Nurses in Genetics