Genetic Testing In Pediatric Disorders

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Medical Genetics in Pediatric Practice

Author : American Academy of Pediatrics
Publisher :
ISBN 13 : 9781581104967
Total Pages : 0 pages
Book Rating : 4.1/5 (49 download)

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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

The Genetic Testing of Children

Author : Angus Clarke
Publisher : Garland Science
ISBN 13 : 1000144674
Total Pages : 390 pages
Book Rating : 4.0/5 (1 download)

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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.

Biochemical and Molecular Basis of Pediatric Disease

Author : Edward C.C. Wong
Publisher : Academic Press
ISBN 13 : 0128179635
Total Pages : 1172 pages
Book Rating : 4.1/5 (281 download)

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Book Synopsis Biochemical and Molecular Basis of Pediatric Disease by : Edward C.C. Wong

Download or read book Biochemical and Molecular Basis of Pediatric Disease written by Edward C.C. Wong and published by Academic Press. This book was released on 2021-05-13 with total page 1172 pages. Available in PDF, EPUB and Kindle. Book excerpt: Biochemical and Molecular Basis of Pediatric Disease, Fifth Edition has been a well-respected reference in the field for decades. This revision continues the strong focus on understanding the pathogenesis of pediatric disease, emphasizing not only the important role of the clinical laboratory in defining parameters that change with the disease process, but also the molecular basis of many pediatric diseases. Provides a fully-updated resource with more color illustrations Focuses on the biochemical and molecular basis of disease as well as the analytical techniques Defines important differences in the pathophysiology of diseases, comparing childhood with adult

Genetic testing in pediatric disorders

Author : Merlin G. Butler
Publisher : Frontiers Media SA
ISBN 13 : 2832542425
Total Pages : 333 pages
Book Rating : 4.8/5 (325 download)

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Book Synopsis Genetic testing in pediatric disorders by : Merlin G. Butler

Download or read book Genetic testing in pediatric disorders written by Merlin G. Butler and published by Frontiers Media SA. This book was released on 2024-01-03 with total page 333 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Assessing Genetic Risks

Author : Institute of Medicine
Publisher : National Academies Press
ISBN 13 : 0309047986
Total Pages : 353 pages
Book Rating : 4.3/5 (9 download)

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Book Synopsis Assessing Genetic Risks by : Institute of Medicine

Download or read book Assessing Genetic Risks written by Institute of Medicine and published by National Academies Press. This book was released on 1994-01-01 with total page 353 pages. Available in PDF, EPUB and Kindle. Book excerpt: Raising hopes for disease treatment and prevention, but also the specter of discrimination and "designer genes," genetic testing is potentially one of the most socially explosive developments of our time. This book presents a current assessment of this rapidly evolving field, offering principles for actions and research and recommendations on key issues in genetic testing and screening. Advantages of early genetic knowledge are balanced with issues associated with such knowledge: availability of treatment, privacy and discrimination, personal decision-making, public health objectives, cost, and more. Among the important issues covered: Quality control in genetic testing. Appropriate roles for public agencies, private health practitioners, and laboratories. Value-neutral education and counseling for persons considering testing. Use of test results in insurance, employment, and other settings.

Unexplained Pediatric Deaths

Author : Elizabeth Bundock
Publisher :
ISBN 13 : 9780998904320
Total Pages : pages
Book Rating : 4.9/5 (43 download)

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Book Synopsis Unexplained Pediatric Deaths by : Elizabeth Bundock

Download or read book Unexplained Pediatric Deaths written by Elizabeth Bundock and published by . This book was released on 2019-11-08 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt: This publication reviews medicolegal investigation of sudden, unexpected pediatric deaths, focusing on systems and procedures in the United States and those deaths which remain incompletely understood or entirely unexplained. It discusses the evolution of our understanding and practice in the area of sudden, unexpected pediatric death investigation, covering the changing philosophies and medical theories as to causation and changing investigative and certification strategies. Procedural guidance for investigation, autopsy and ancillary testing, certification and reporting, and key considerations for prevention, research and working with family members and other professional team members are provided.The path to production of this publication began in 2016 when the National Association of Medical Examiners received a scientific grant from the SUDC Foundation called "Sudden Death in Pediatrics: Consensus for Investigation, Certification, Research Direction and Family Needs" to convene, in collaboration with the American Academy of Pediatrics, an expert panel to identify and discuss the diverse issues and limitations surrounding these deaths and build a foundation for national consensus. The combined effort of a panel of medical examiners, pediatricians, and federal agency representatives, representing the diverse interests of death investigation, autopsy performance, certification, clinical subspecialties (pediatrics, neurology, cardiology, child abuse, injury prevention, infectious diseases, genetics, and metabolic diseases), family needs, prevention, and epidemiology, culminated in this publication.

Understanding Gene Testing

Author :
Publisher :
ISBN 13 :
Total Pages : 42 pages
Book Rating : 4.:/5 (327 download)

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Book Synopsis Understanding Gene Testing by :

Download or read book Understanding Gene Testing written by and published by . This book was released on 1995 with total page 42 pages. Available in PDF, EPUB and Kindle. Book excerpt:

An Evidence Framework for Genetic Testing

Author : National Academies of Sciences, Engineering, and Medicine
Publisher : National Academies Press
ISBN 13 : 0309453291
Total Pages : 149 pages
Book Rating : 4.3/5 (94 download)

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Book Synopsis An Evidence Framework for Genetic Testing by : National Academies of Sciences, Engineering, and Medicine

Download or read book An Evidence Framework for Genetic Testing written by National Academies of Sciences, Engineering, and Medicine and published by National Academies Press. This book was released on 2017-04-21 with total page 149 pages. Available in PDF, EPUB and Kindle. Book excerpt: Advances in genetics and genomics are transforming medical practice, resulting in a dramatic growth of genetic testing in the health care system. The rapid development of new technologies, however, has also brought challenges, including the need for rigorous evaluation of the validity and utility of genetic tests, questions regarding the best ways to incorporate them into medical practice, and how to weigh their cost against potential short- and long-term benefits. As the availability of genetic tests increases so do concerns about the achievement of meaningful improvements in clinical outcomes, costs of testing, and the potential for accentuating medical care inequality. Given the rapid pace in the development of genetic tests and new testing technologies, An Evidence Framework for Genetic Testing seeks to advance the development of an adequate evidence base for genetic tests to improve patient care and treatment. Additionally, this report recommends a framework for decision-making regarding the use of genetic tests in clinical care.

Pediatric Cancer Genetics

Author : Nathaniel H. Robin
Publisher : Elsevier Health Sciences
ISBN 13 : 0323495966
Total Pages : 350 pages
Book Rating : 4.3/5 (234 download)

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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.

Handbook of Neurodevelopmental and Genetic Disorders in Children, 2/e

Author : Sam Goldstein
Publisher : Guilford Press
ISBN 13 : 9781606239902
Total Pages : 588 pages
Book Rating : 4.2/5 (399 download)

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Book Synopsis Handbook of Neurodevelopmental and Genetic Disorders in Children, 2/e by : Sam Goldstein

Download or read book Handbook of Neurodevelopmental and Genetic Disorders in Children, 2/e written by Sam Goldstein and published by Guilford Press. This book was released on 2010-10-19 with total page 588 pages. Available in PDF, EPUB and Kindle. Book excerpt: Recognized as the definitive reference in the field, this book addresses a broad range of biologically based disorders that affect children's learning and development. Leading authorities review the genetics of each disorder; its course and outcome; associated developmental, cognitive, and psychosocial challenges; and what clinicians and educators need to know about effective approaches to assessment and intervention. Coverage encompasses more frequently diagnosed learning and behavior problems with a genetic component as well as numerous lower-incidence neurodevelopmental disabilities. Illustrations include 12 color plates.

Genetics for Pediatricians

Author : Mohnish Suri
Publisher : Remedica
ISBN 13 : 1901346633
Total Pages : 322 pages
Book Rating : 4.9/5 (13 download)

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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.

Genetic Disorders and the Fetus

Author : Aubrey Milunsky
Publisher : Springer Science & Business Media
ISBN 13 : 1468451553
Total Pages : 910 pages
Book Rating : 4.4/5 (684 download)

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Book Synopsis Genetic Disorders and the Fetus by : Aubrey Milunsky

Download or read book Genetic Disorders and the Fetus written by Aubrey Milunsky and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 910 pages. Available in PDF, EPUB and Kindle. Book excerpt: About 21 years ago prenatal diagnosis became part of the physician's diagnostic armamentarium against genetic defects. My first monograph in 1973 (The Prenatal Diagnosis of Hereditary Disorders) critically assessed early progress and enunciated basic principles in the systematic approach to prenatal genetic diagnosis. Six years later and under the current title, a subsequent volume provided the first major reference source on this subject. The present second (effectively third) edition, which was urged in view of the excellent reception of the two earlier volumes, reflects the remarkable growth of this new discipline and points to significant and exciting future developments. Notwithstanding these advances, the use of the new tools and techniques for the benefit of at-risk parents has taken many more years than most anticipated. Key factors have been the lack of teaching of human genetics in medical schools in the preceding decades and the difficulty of educating practicing physicians in a new scientific disci pline. Even today the teaching of genetics in medical schools leaves much to be desired and this will further delay the introduction of newer genetic advances to the bedside.

Nelson Pediatric Symptom-Based Diagnosis

Author : Robert M. Kliegman
Publisher : Elsevier Health Sciences
ISBN 13 : 0323761755
Total Pages : 1355 pages
Book Rating : 4.3/5 (237 download)

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Book Synopsis Nelson Pediatric Symptom-Based Diagnosis by : Robert M. Kliegman

Download or read book Nelson Pediatric Symptom-Based Diagnosis written by Robert M. Kliegman and published by Elsevier Health Sciences. This book was released on 2022-01-10 with total page 1355 pages. Available in PDF, EPUB and Kindle. Book excerpt: Patients don’t present with a disease; they present with symptoms. Using a practical, symptom-based organization, Nelson Pediatric Symptom-Based Diagnosis: Common Diseases and their Mimics, 2nd Edition, offers authoritative guidance on differential diagnosis and treatment of diseases and disorders in children and adolescents, and covers the symptoms you’re likely to see in practice, their mimics, and uncommon disorders. Drs. Robert M. Kliegman, Heather Toth, Brett J. Bordini, and Donald Basel walk you through what to consider and how to proceed when faced with common symptoms such as cough, fever, headache, autistic-like behaviors, chronic pain, chest pain, gait disturbances, and much more. Begins with a presenting symptom and leads you through differential diagnosis and a concise review of treatment recommendations. Contains more than a dozen new topics including Disease Mimics: An Approach to Undiagnosed Diseases, Autistic-like Behaviors, Shock, Hypertension, Neurocognitive and Developmental Regression, Chronic Pain, Hypertonicity, Movement Disorders, Hypermobility, and more. Features a new focus on symptoms of rarer diseases that are mimics of more common diseases. Offers a user-friendly approach to Altered Mental Status such as coma and other CNS disorders, with numerous clinically useful tables and figures to guide clinical decision making in various care settings. Uses a highly templated format for easy reference and quick answers to clinical questions, with the same consistent presentation in each chapter: History, Physical Examination, Diagnosis (including laboratory tests), Imaging, Diagnosis, and Treatment. Includes numerous full-color illustrations, algorithms, tables, and "red flags" to aid differential diagnosis. Serves as an ideal companion to Nelson Textbook of Pediatrics, 21st Edition. Content in this book is referenced and linked electronically to the larger text, providing easy access to full background and evidence-based treatment and management content when you own both references.

Anticipate and Communicate

Author : Presidential Commission for the Study of Bioethical Issues
Publisher : CreateSpace
ISBN 13 : 9781508807643
Total Pages : 156 pages
Book Rating : 4.8/5 (76 download)

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Book Synopsis Anticipate and Communicate by : Presidential Commission for the Study of Bioethical Issues

Download or read book Anticipate and Communicate written by Presidential Commission for the Study of Bioethical Issues and published by CreateSpace. This book was released on 2015-03-11 with total page 156 pages. Available in PDF, EPUB and Kindle. Book excerpt: Anticipate and Communicate is the Bioethics Commission's sixth major report. In this report the Bioethics Commission offers specific recommendations for the management of incidental and secondary findings in clinical, research and direct-to-consumer settings. Emerging medical technologies, changing cost structures, and evolving medical practice make the likelihood of discovering incidental and secondary findings across contexts a growing certainty. Such findings can be lifesaving, but also can lead to uncertainty and distress if they are unexpected or identify conditions for which no effective treatment is available.

Pediatric Genetics and Inborn Errors of Metabolism

Author : Christine M. Houser
Publisher : Springer Science & Business Media
ISBN 13 : 1493905813
Total Pages : 156 pages
Book Rating : 4.4/5 (939 download)

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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 156 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.

A Short History of Medical Genetics

Author : Peter S. Harper
Publisher : Oxford University Press
ISBN 13 : 0195187504
Total Pages : 570 pages
Book Rating : 4.1/5 (951 download)

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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.

Newborn Screening for Pompe Disease

Author : Wuh-Liang Hwu
Publisher : MDPI
ISBN 13 : 3036505806
Total Pages : 146 pages
Book Rating : 4.0/5 (365 download)

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Book Synopsis Newborn Screening for Pompe Disease by : Wuh-Liang Hwu

Download or read book Newborn Screening for Pompe Disease written by Wuh-Liang Hwu and published by MDPI. This book was released on 2021-09-02 with total page 146 pages. Available in PDF, EPUB and Kindle. Book excerpt: Pompe disease, also known as acid maltase deficiency or acid alpha-glucosidase deficiency, in its most severe form results in a rapidly progressive, neonatal-onset skeletal and cardiomyopathy, leading to early infantile death without treatment. The development of treatment with recombinant enzyme replacement therapy radically transformed the clinical trajectory of those affected, enabling long-term ventilator-free survival with resolution of cardiomyopathy. These positive clinical outcomes resulted in the implementation of newborn screening programs for Pompe disease across the world. This Special Issue highlights some of the experiences of Pompe screening programs worldwide and discusses public policy and ethical issues elicited by presymptomatic screening for Pompe disease.