The Practical Guide To The Genetic Family History

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The Practical Guide To The Genetic Family History
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Author : Robin L. Bennett
language : en
Publisher: John Wiley & Sons
Release Date : 2011-09-20
The Practical Guide To The Genetic Family History written by Robin L. Bennett and has been published by John Wiley & Sons this book supported file pdf, txt, epub, kindle and other format this book has been release on 2011-09-20 with Medical categories.
HELPS YOU DEVELOP AND ASSESS PEDIGREES TO MAKE DIAGNOSES, EVALUATE RISK, AND COUNSEL PATIENTS The Second Edition of The Practical Guide to the Genetic Family History not only shows how to take a medical-family history and record a pedigree, but also explains why each bit of information gathered is important. It provides essential support in diagnosing conditions with a genetic component. Moreover, it aids in recommending genetic testing, referring patients for genetic counseling, determining patterns of inheritance, calculating risk of disease, making decisions for medical management and surveillance, and informing and educating patients. Based on the author's twenty-five years as a genetic counselor, the book also helps readers deal with the psychological, social, cultural, and ethical problems that arise in gathering a medical-family history and sharing findings with patients. Featuring a new Foreword by Arno Motulsky, widely recognized as the founder of medical genetics, and completely updated to reflect the most recent findings in genetic medicine, this Second Edition presents the latest information and methods for preparing and assessing a pedigree, including: Value and utility of a thorough medical-family history Directed questions to ask when developing a medical-family history for specific disease conditions Use of pedigrees to identify individuals with an increased susceptibility to cancer Verification of family medical information Special considerations when adoptions or gamete donors are involved Ethical issues that may arise in recording a pedigree Throughout the book, clinical examples based on hypothetical families illustrate key concepts, helping readers understand how real issues present themselves and how they can be resolved. This book will enable all healthcare providers, including physicians, nurses, medical social workers, and physician assistants, as well as genetic counselors, to take full advantage of the pedigree as a primary tool for making a genetic risk assessment and providing counseling for patients and their families.
The Practical Guide To The Genetic Family History
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Author : MS Robin L. Bennett (CGC.)
language : en
Publisher: Wiley-Liss
Release Date : 1999-04-21
The Practical Guide To The Genetic Family History written by MS Robin L. Bennett (CGC.) and has been published by Wiley-Liss this book supported file pdf, txt, epub, kindle and other format this book has been release on 1999-04-21 with Law categories.
This book is a concise and accessible resource on how to take and record a patient's family medical history to determine if the patient's affliction has a genetic component. In an era of managed care, physicians must be selective about which patients are truly in need of specialty medical services such as genetic testing and counseling. This book will enable the health care professional to intelligently refer patients for genetic testing and counseling.
The Practical Guide To The Genetic Family History
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Author : Robin L. Bennett
language : en
Publisher: John Wiley & Sons
Release Date : 2004-04-07
The Practical Guide To The Genetic Family History written by Robin L. Bennett and has been published by John Wiley & Sons this book supported file pdf, txt, epub, kindle and other format this book has been release on 2004-04-07 with Medical categories.
The Practical Guide to The Genetic Family History Robin L. Bennett Compiling the most recent genetic developments in medical specialties, The Practical Guide to the Genetic Family History is a valuable resource which outlines the proper methods for taking and recording a patient's family medical history, allowing primary care physicians to be more efficient in diagnosing conditions with potential genetic components. With genetic screening forms, an overview of directed questions, pedigree nomenclature, and outlining common approaches used, genetic counselor Robin L. Bennett provides readers with the basic foundation in human genetics necessary to recognize inherited disorders and familial disease susceptibility in patients. As the only guide which is geared for the physician in this field, The Practical Guide to the Genetic Family History includes remarks by renowned medical geneticist Arno Motulsky, as well as information on structuring an accurate pedigree and its components, including: * Using a pedigree to identify individuals with an increased susceptibility to cancer * Family history, adoption, and their challenges * The connection between the pedigree and assisted reproductive technologies * Making referrals for genetic services * Neurological and neuromuscular conditions * Tables covering hearing loss, mental retardation, dementia, and seizures * Five case studies of genetics in practice An essential reference for genetics clinics, medical geneticists, and counselors, The Practical Guide to the Genetic Family History is also an invaluable aid for both primary care and specialist physicians who need an up-to-date reference that emphasizes both the science and art of modern clinical genetics.
A Guide To Genetic Counseling
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Author : Wendy R. Uhlmann
language : en
Publisher: John Wiley & Sons
Release Date : 2011-09-20
A Guide To Genetic Counseling written by Wendy R. Uhlmann and has been published by John Wiley & Sons this book supported file pdf, txt, epub, kindle and other format this book has been release on 2011-09-20 with Medical categories.
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.
Genetics Revised Edition
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Author : Karen Vipond
language : en
Publisher: Scion Publishing Ltd
Release Date : 2013-07-08
Genetics Revised Edition written by Karen Vipond and has been published by Scion Publishing Ltd this book supported file pdf, txt, epub, kindle and other format this book has been release on 2013-07-08 with Medical categories.
From the Foreword by Candy Cooley, formerly Genetics Awareness Programme Lead at the NHS National Genetics and Genomics Education Centre: “What a delight it is ... to read a book which takes complex scientific concepts and ensures they are understandable by all.” With activities and answers, reflection points and a glossary, this interactive textbook supports the ‘Fit for Practice in the Genetics Era’ competence framework, offering an introduction to the theory of genetics and then using common genetic conditions/disorders as case studies to help students apply theory to practice and examine the service user experience. Genetics is written by an experienced teacher of health care sciences and is ideal for student nurses who need to demonstrate and apply knowledge of genetics and genomics. It is also suitable for other health care students and for qualified practitioners who would like to refresh their knowledge of the subject. From lecturer reviews: “A well written and nicely laid out genetics text at an appropriate level for adult nursing students.” “Fabulous text, student friendly.”
Genetics Of Bone Biology And Skeletal Disease
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Author : Rajesh V. Thakker
language : en
Publisher: Academic Press
Release Date : 2017-10-31
Genetics Of Bone Biology And Skeletal Disease written by Rajesh V. Thakker and has been published by Academic Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2017-10-31 with Science categories.
Genetics of Bone Biology and Skeletal Disease, Second Edition, is aimed at students of bone biology and genetics and includes general introductory chapters on bone biology and genetics. More specific disease orientated chapters comprehensively summarize the clinical, genetic, molecular, animal model, molecular pathology, diagnostic, counseling, and treatment aspects of each disorder. The book is organized into five sections that each emphasize a particular theme, general background to bone biology, general background to genetics and epigenetics, disorders of bone and joint, parathyroid and related disorders, and vitamin D and renal disorders. The first section is specifically devoted to providing an overview of bone biology and structure, joint and cartilage biology, principles of endocrine regulation of bone, and the role of neuronal regulation and energy homeostasis. The second section reviews the principles and progress of medical genetics and epigenetics related to bone disease, including genome-wide association studies (GWAS), genomic profiling, copy number variation, prospects of gene therapy, pharmacogenomics, genetic testing and counseling, as well as the generation and utilizing of mouse models. The third section details advances in the genetics and molecular biology of bone and joint diseases, both monogenic and polygenic, as well as skeletal dysplasias, and rarer bone disorders. The fourth section highlights the central role of the parathyroids in calcium and skeletal homeostasis by reviewing the molecular genetics of: hyperparathyroidism, hypoparathyrodism, endocrine neoplasias, and disorders of the PTH and calcium-sensing receptors. The fifth section details molecular and cellular advances across associated renal disorders such as vitamin D and rickets. - Identifies and analyzes the genetic basis of bone disorders in humans and demonstrates the utility of mouse models in furthering the knowledge of mechanisms and evaluation of treatments - Demonstrates how the interactions between bone and joint biology, physiology, and genetics have greatly enhanced the understanding of normal bone function as well as the molecular pathogenesis of metabolic bone disorders - Summarizes the clinical, genetic, molecular, animal model, molecular pathology, diagnostic, counseling, and treatment aspects of each disorder
Human Computer Interaction Design And Evaluation
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Author : Masaaki Kurosu
language : en
Publisher: Springer
Release Date : 2015-07-20
Human Computer Interaction Design And Evaluation written by Masaaki Kurosu and has been published by Springer this book supported file pdf, txt, epub, kindle and other format this book has been release on 2015-07-20 with Computers categories.
The 3-volume set LNCS 9169, 9170, 9171 constitutes the refereed proceedings of the 17th International Conference on Human-Computer Interaction, HCII 2015, held in Los Angeles, CA, USA, in August 2015. The total of 1462 papers and 246 posters presented at the HCII 2015 conferences was carefully reviewed and selected from 4843 submissions. These papers address the latest research and development efforts and highlight the human aspects of design and use of computing systems. The papers in LNCS 9169 are organized in topical sections on HCI theory and practice; HCI design and evaluation methods and tools; interaction design; emotions in HCI.
Inherited Metabolic Epilepsies
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Author : Phillip L. Pearl
language : en
Publisher: Springer Publishing Company
Release Date : 2017-12-20
Inherited Metabolic Epilepsies written by Phillip L. Pearl and has been published by Springer Publishing Company this book supported file pdf, txt, epub, kindle and other format this book has been release on 2017-12-20 with Medical categories.
"This book fills an important and unique niche in pediatric neurology, and will be a frequently referenced textbook for all clinicians caring for children with epilepsy. It is well-organized and readable, and provides essential and up-to-date clinical data on these individually rare, but collectively more common, disorders." -Elaine Wirrell, MD, Neurology "Specialists in pediatric neurology, epilepsy, and biochemical genetics will find this volume to be indispensable for their daily practice. The organized approach to an incredibly complex set of disorders will also benefit trainees trying to make sense of the complex field and developing their own clinical approach, as knowledge about metabolic epilepsies continues to grow." -Carl E. Stafstrom, MD, PhD, Journal of Pediatric Epilepsy The continued explosion of information in neurogenetics and metabolism mandates increasing awareness of current diagnostic and therapeutic strategies in disease settings where prompt identification and intervention is crucial for a positive outcome. This thoroughly revised and greatly expanded new edition of the first book to bridge clinical epilepsy with inherited metabolic diseases brings together leading authorities to present state-of-the-art clinical reviews covering the science, recognition, and treatment of the inherited metabolic epilepsies and related disorders. Inherited Metabolic Epilepsies, Second Edition contains 15 new chapters, and all existing chapters have been updated to reflect the latest science and clinical advances in this fast-moving field. New sections on basic and clinical science —covering energetics, metabolomics, pathways, the use of novel investigations like transcranial magnetic stimulation, neuropathology, and genomic technologies—supplement the disease-focused sections. Dedicated chapters focus on recently recognized disorders having novel therapeutic implications, pyridoxal-5-phosphate dependency, Menkes disease, and thiamine transporter deficiency. The book also includes new clinical applications of genomics and advanced generation gene sequencing in the diagnosis of inherited metabolic epilepsies. This readable, well-illustrated reference concludes with an updated clinical algorithm to aid physicians in screening and identifying suspected metabolic disorders and a collection of resources for families. Features Synthesizes cutting-edge diagnostic, clinical, and scientific information on epilepsy and inborn errors of metabolism Completely updated and expanded second edition contains the latest knowledge and 15 entirely new chapters Authored and edited by international experts in neurology, metabolic disorders, and genetics A readable and well-illustrated reference for clinicians Essential coverage of the new generation of genetic tests, which were not widely available or utilized when the first edition was published New chapter on inherited metabolic epilepsies in adult
The Role Of Genetics In Breast And Reproductive Cancers
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Author : Piri Welcsh
language : en
Publisher: Springer Science & Business Media
Release Date : 2009-10-03
The Role Of Genetics In Breast And Reproductive Cancers written by Piri Welcsh and has been published by Springer Science & Business Media this book supported file pdf, txt, epub, kindle and other format this book has been release on 2009-10-03 with Medical categories.
This volume will explore the latest findings in research into the genetics of breast and reproductive cancers, covering the epidemiological aspects of these cancers, their etiology, the effect of environment on genes and cancer etiology, and how research in this area can lead to development of preventative measures and treatments.
Encyclopedia Of Family Health
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Author : Martha Craft-Rosenberg
language : en
Publisher: SAGE Publications
Release Date : 2011-01-20
Encyclopedia Of Family Health written by Martha Craft-Rosenberg and has been published by SAGE Publications this book supported file pdf, txt, epub, kindle and other format this book has been release on 2011-01-20 with Medical categories.
What is unique about the process in the discussion of healthcare and interventions to use when working with families? What assessment tools provide guidance for healthcare providers as they determine interventions for families in their care? What are the changing dimensions of contemporary family life, and what impact do those dimensions have on health promotion for families? How is family healthcare changing in terms of practices, delivery systems, costs and insurance coverage? Students are able to explore these questions and more in the Encyclopedia of Family Health. Approximately 350 signed articles written by experts from such varied fields as health and nursing, social and behavioral sciences, and policy provide authoritative, cross-disciplinary coverage. Entries examine theory, research and policy as they relate to family practice in a manner that is accessible and jargon-free. From ′Adolescent Suicide′ and ′Alternative Therapies′ to ′Visitation during Hospitalization′ and ′Weight Problems and Genetics′, this work provides coverage of a variety of issues within a family context. The Encyclopedia of Family Health provides a comprehensive summary of theory, research, practice, and policy on family health and wellness promotion for students and researchers.