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Lashley’s Essentials of Clinical Genetics in Nursing Practice PDF

531 Pages·2015·9.71 MB·English
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LASHLEY’S ESSENTIALS of Clinical Genetics Nursing Practice in Christine E. Kasper, PhD, RN, FAAN, FACSM, is a senior research scientist and professor at the U.S. Department of Veterans Affairs and Uniformed Services Univer- sity of the Health Sciences. Prior to that, she held the Adelaide M. Nutting Endowed Research Chair at the Johns Hopkins School of Nursing and was also a faculty mem- ber at the University of C alifornia—Los Angeles and the University of Wisconsin— Madison. Dr. Kasper received her BSN from the University of Evansville, her MSN from Rush University, and her PhD from the University of Michigan. Dr. Kasper has published more than 110 research papers, book chapters, reviews, and editorials in highly respected nursing and scientifi c journals. She was the found- ing editor of Biological Research for Nursing and is the current editor of the Annual Review of Nursing Research. She was a co-author of the ground-breaking book, In Search of Nursing Science, used in many nursing programs as a philosophy of sci- ence text. Her research has included funding from the National Institutes of Health (NIH), the National Aeronautics and Space Administration (NASA), and the Depart- ment of Veterans Affairs as the principal investigator on 10 grants. Additionally, she has received funding for 11 studies from foundations and universities, and has par- ticipated as a co-investigator on 14 additional interdisciplinary grants ranging from clinical genomics in nursing practice to genotoxic changes arising from embedded military-relevant heavy metals. Dr. Kasper has been inducted as a fellow of the American Academy of Nursing and the A merican College of Sports Medicine. In 2015, she received the distinc- tive honor of becoming an inductee of the Sigma Theta Tau International Nurse Researcher Hall of Fame. Tonya A. Schneidereith, PhD, CRNP, PPCNP-BC, CPNP-AC, is an assistant professor of nursing at Stevenson University. Dr. Schneidereith received her BSN from Florida State University, her MSN from the University of Pennsylvania, and her PhD from the Johns H opkins University. While at Johns Hopkins, she studied under the direction of Dr. Christine Kasper, Dr. Gayle Page, Dr. Kirby Smith, and Dr. George Dover on the pharmacogenetics of fetal hemoglobin and F-cell variation. She was a summer intramural research assistant at the National Human Genome Research Institute under the direction of Dr. Wendy Fibison and has received fund- ing as the primary investigator from the National Institute of Nursing Research for her work in molecular genetics. Among her national and international presentations, Dr. Schneidereith has pub- lished in the Annual Review of Nursing Research, Experimental Hematology, and Human Molecular Genetics. She also serves as a reviewer for the Journal of Nursing Education and Nursing Education Perspectives. Additionally, Dr. Schneidereith maintains a clinical practice as a pediatric nurse practitioner, with over two decades of experience in pediatric acute and primary care. Felissa R. Lashley, PhD, RN, FABMGG, is former dean and professor at the College of Nursing at Rutgers, The State University of New Jersey. Prior to that, she was a dean and professor at the Southern Illinois University—Edwardsville and a clinical professor of pediatrics at the School of Medicine, Southern Illinois Univer- sity—Springfi eld. She is the fi rst nurse to be certifi ed as a PhD medical geneticist by the American Board of Medical Genetics, and is a founding fellow of the American College of Medical Genetics. She began her practice of genetic evaluation and coun- seling in 1973. LASHLEY’S ESSENTIALS of Clinical Genetics Nursing Practice in SECOND EDITION Christine E. Kasper , PhD, RN, FAAN, FACSM Tonya A. Schneidereith , PhD, CRNP, PPCNP-BC, CPNP-AC Felissa R. Lashley , PhD, RN, FABMGG Editors Copyright © 2016 Springer Publishing Company, LLC All rights reserved. No part of this publication may be reproduced, stored in a retrieval system, or transmitted in any form or by any means, electronic, mechanical, photocopying, recording, or otherwise, without the prior permission of Springer Publishing Company, LLC, or authorization through payment of the appropriate fees to the Copyright Clearance Center, Inc., 222 Rosewood Drive, Danvers, MA 01923, 978-750-8400, fax 978-646-8600, [email protected] or on the Web at www.copyright.com. Springer Publishing Company, LLC 11 West 42nd Street New York, NY 10036 www.springerpub.com Acquisitions Editor: Joseph Morita Production Editor: Kris Parrish Composition: Exeter Premedia Services Private Ltd. ISBN: 978-0-8261-2912-3 e-book ISBN: 978-0-8261-2913-0 Instructor’s PowerPoints: 978-0-8261-2304-6 Instructor’s Test Bank: 978-0-8261-2305-3 Instructor’s Materials: Qualifi ed instructors may request supplements by emailing [email protected]. 15 16 17 18 19 / 5 4 3 2 1 The author and the publisher of this Work have made every effort to use sources believed to be reliable to provide information that is accurate and compatible with the standards generally accepted at the time of publication. Because medical science is continually advancing, our knowledge base continues to expand. Therefore, as new information becomes available, changes in procedures become necessary. We recommend that the reader always consult current research and specifi c institutional policies before performing any clinical procedure. The author and publisher shall not be liable for any special, consequential, or exemplary damages resulting, in whole or in part, from the readers’ use of, or reliance on, the information contained in this book. The publisher has no responsibility for the persistence or accuracy of URLs for external or third-party Internet websites referred to in this publication and does not guarantee that any content on such websites is, or will remain, accurate or appropriate. Library of Congress Cataloging-in-Publication Data Lashley, Felissa R., 1941- , author, editor. [Essentials of clinical genetics in nursing practice] Lashley’s essentials of clinical genetics in nursing practice / Christine E. Kasper, Tonya A. Schneidereith, Felissa R. Lashley, editors.—Second edition. p. ; cm. Preceded by Essentials of clinical genetics in nursing practice / Felissa R. Lashley. c2007. Includes bibliographical references and index. ISBN 978-0-8261-2912-3—ISBN 978-0-8261-2913-0 (e-book)—ISBN 978-0-8261-2304-6 (instructor’s PowerPoints)—ISBN 978-0-8261-2305-3 (instructor’s test bank) I. Kasper, Christine E., editor. II. Schneidereith, Tonya A., editor. III. Title. [DNLM: 1. Genetic Diseases, Inborn—nursing. 2. Nursing Care. 3. Genetic Services. 4. Genomics. QZ 50] RB155 616’.042—dc23 2015015821 Special discounts on bulk quantities of our books are available to corporations, professional associations, phar- maceutical companies, health care organizations, and other qualifying groups. If you are interested in a custom book, including chapters from more than one of our titles, we can provide that service as well. For details, please contact: Special Sales Department, Springer Publishing Company, LLC 11 West 42nd Street, 15th Floor, New York, NY 10036-8002 Phone: 877-687-7476 or 212-431-4370; Fax: 212-941-7842 E-mail: [email protected] Printed in the United States of America by Bradford & Bigelow. To my parents, David and Betty Andrade, who developed and fostered my passion for learning. To my wonderful husband, Scott, and my children, Sam and Lauren, without whom this would not be possible. —TAS To my earliest mentor in science, my father, John M. Kasper, and to my fi rst professional mentor, Luther Christman, PhD, RN, FAAN, who made it all possible. And to my family: Ray, and my talented daughters, Alexandra and Gabrielle, for their constant encouragement and support. —CEK To my very special children (Peter, Heather, and Neal) and grandchildren (Ben, Hannah, Jacob, Grace, and Lydia). You make everything brighter. —FRL CONTENTS Contributors xi Editor’s Note Felissa R. Lashley, PhD, RN, FABMGG xiii Preface xv Share Lashley’s Essentials of Clinicals Genetics in Nursing Practice: Second Edition Part I: The Basics 1 Genomics in Health Care 3 Tonya A. Schneidereith and Christine E. Kasper 2 Basic Concepts in Molecular Biology 9 Wendy L. Kimber 3 Human Diversity and Variation 41 Emma L. Kurnat-Thoma 4 Inheritance Patterns in Human Phenotypes and Types of Genetic Disorders 65 Timothy M. Dwyer, Rivka L. Glaser, and Tracey M. Mason 5 Prevention, Genetic Testing, and Treatment of Genetic Disease 115 William G. Danchanko and Christine E. Kasper Part II: The Integration of Genetics Into Nursing Curricula 6 The Application of Genomics to Pharmacology 165 Emma L. Kurnat-Thoma 7 Assessing Patients With a Genetic “Eye”: Family History and Physical Assessment 191 Kendra L. Schaa 8 Maternal–Child Nursing: Obstetrics 215 Tonya A. Schneidereith 9 Maternal–Child Nursing: Pediatrics 289 Tonya A. Schneidereith 10 Adult Health and Illness and Medical–Surgical Nursing 347 Tonya A. Schneidereith and Gwen Anderson 11 The Genetic Basis of Cancer 389 Gwen Anderson, Jennifer Francis, and Caitlyn Cornell

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Christine E. Kasper, PhD, RN, FAAN, FACSM Tonya A. Schneidereith, PhD, CRNP, PPCNP-BC, CPNP-AC Felissa R. Lashley, PhD, RN, FABMGG Completely updated to help nurses learn to "think genetically" Today's nurses must be able to "think genetically" to help individuals and families who are affected by ge
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Most books are stored in the elastic cloud where traffic is expensive. For this reason, we have a limit on daily download.