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Tietz Fundamentals of Clinical Chemistry and Molecular Diagnostics PDF

1103 Pages·2014·198.75 MB·English
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This page intentionally left blank C o n te n ts PART I PRINCIPLES OF LABORATORY MEDICINE, 1 1 . Clinical Chemistry, Molecular Diagnostics, and Laboratory Medicine, 1 2 . Selection and Analytical Evaluation of Methods—With Statistical Techniques, 6 3 . Clinical Evaluation of Methods, 33 4 . Evidence-Based Laboratory Medicine, 40 5 . Establishment and Use of Reference Values, 60 6 . Specimen Collection, Processing, and Other Preanalytical Variables, 72 7 . Quality Management, 90 8 . Principles of Basic Techniques and Laboratory Safety, 107 PART II ANALYTICAL TECHNIQUES AND INSTRUMENTATION, 129 9 . Optical Techniques, 129 1 0 . Electrochemistry and Chemical Sensors, 151 1 1 . Electrophoresis, 171 1 2 . Chromatography, 183 1 3 . Mass Spectrometry, 202 1 4 . Enzyme and Rate Analyses, 216 1 5 . Immunochemical Techniques, 236 1 6 . Automation, 254 1 7 . Point-of-Care Instrumentation, 272 PART III ANALYTES, 286 1 8 . Amino Acids, Peptides, and Proteins, 286 1 9 . Serum Enzymes, 318 2 0 . Tumor Markers and Cancer Genes, 337 2 1 . Kidney Function Tests—Creatinine, Urea, and Uric Acid, 364 2 2 . Carbohydrates, 376 2 3 . Lipids, Lipoproteins, Apolipoproteins, and Other Cardiac Risk Factors, 388 2 4 . Electrolytes and Blood Gases, 412 2 5 . Hormones, 430 2 6 . Catecholamines and Serotonin, 442 2 7 . Vitamins, Trace Elements, and Nutritional Assessment, 459 2 8 . Hemoglobin, Iron, and Bilirubin, 499 2 9 . Porphyrins and Porphyrias, 522 3 0 . Therapeutic Drugs and Their Management, 536 3 1 . Clinical Toxicology, 559 3 2 . Toxic Metals, 592 PART IV PATHOPHYSIOLOGY, 608 3 3 . Diabetes, 608 3 4 . Cardiovascular Disease, 632 3 5 . Kidney Disease, 651 3 6 . Physiology and Disorders of Water, Electrolyte, and Acid-Base Metabolism, 680 3 7 . Liver Disease, 700 3 8 . Gastrointestinal and Pancreatic Diseases, 724 3 9 . Disorders of Bone and Mineral Metabolism, 741 4 0 . Disorders of the Pituitary, 769 4 1 . Disorders of the Adrenal Cortex, 785 4 2 . Thyroid Disorders, 806 4 3 . Reproduction-Related Disorders, 824 4 4 . Pregnancy and Prenatal Testing, 848 4 5 . Newborn Screening and Inborn Errors of Metabolism, 870 4 6 . Pharmacogenetics, 885 PART V MOLECULAR DIAGNOSTICS, 899 4 7 . Principles of Molecular Biology, 899 4 8 . Nucleic Acid Techniques and Applications, 915 4 9 . Genomes and Nucleic Acid Variations, 946 PART VI REFERENCE INFORMATION, 951 5 0 . Reference Information for the Clinical Laboratory, 951 Tie tz Funda m e nta ls o f C LINIC AL C HEMIS TRY AND MO LEC ULAR DIAG NO S TIC S YOU’VE JUST PURCHASED MORE THAN A TEXTBOOK! Evolve Student Resources for Burtis: Tietz Fundamentals of Clinical Chemistry and Molecular Diagnostics, Seventh Edition, include the following features: Chapter Review Question Answer Key Case Studies Activate the complete learning experience that comes with each NEWtextbook purchase by registering at http://evolve.elsevier.com/Tietz/fundamentals/ REGISTER TODAY! You can now purchase Elsevier products on Evolve! Go to evolve.elsevier.com/html/shop-promo.html to search and browse for products. Tie tz Fund a m e nta ls o f C LINIC AL C HEMIS TRY AND MO LEC ULAR DIAG NO S TIC S S e ve n t h Ed it io n Carl A. Burtis , Ph.D. David E. Bruns , M.D. Emeritus Professor of Pathology Oak Ridge National Laboratory University of Virginia School of Medicine Oak Ridge, Tennessee Director of Clinical Chemistry and Clinical Professor of Pathology Associate Director of Molecular University of Utah School of Medicine Diagnostics Salt Lake City, Utah University of Virginia Health System Charlottesville, Virginia Consulting Editor Barbara G. Sawye r, Ph.D., M.L.S. (A.S.C.P.)CM, MB (A.S.C.P.)CM Professor, Clinical Laboratory Science/ Molecular Pathology Texas Tech University Health Sciences Center Lubbock, Texas 3251 Riverport Lane St. Louis, Missouri 63043 IE Z FUNDAMEN ALS OF CLINICAL CHEMIS RY, SEVEN H EDI ION ISBN: 978-1-4557-4165-6 Copyright © 2015 by Saunders, an imprint of Elsevier Inc. No part o this publication may be reproduced or transmitted in any orm or by any means, electronic or mechani- cal, including photocopying, recording, or any in ormation storage and retrieval system, without permission in writing rom the publisher. Details on how to seek permission, urther in ormation about the Publisher’s permis- sions policies and our arrangements with organizations such as the Copyright Clearance Center and the Copyright Licensing Agency, can be ound at our website: www.elsevier.com/permissions. T is book and the individual contributions contained in it are protected under copyright by the Publisher (other than as may be noted herein). Notices Knowledge and best practice in this f eld are constantly changing. As new research and experience broaden our understanding, changes in research methods, pro essional practices, or medical treatment may become necessary. Practitioners and researchers must always rely on their own experience and knowledge in evaluating and using any in ormation, methods, compounds, or experiments described herein. In using such in ormation or methods they should be mind ul o their own sa ety and the sa ety o others, including parties or whom they have a pro essional responsibility. With respect to any drug or pharmaceutical products identif ed, readers are advised to check the most current in ormation provided (i) on procedures eatured or (ii) by the manu acturer o each product to be administered, to veri y the recommended dose or ormula, the method and duration o administration, and contraindications. It is the responsibility o practitioners, relying on their own experience and knowledge o their patients, to make diagnoses, to determine dosages and the best treatment or each individual patient, and to take all appropriate sa ety precautions. o the ullest extent o the law, neither the Publisher nor the authors, contributors, or editors, assume any liability or any injury and/or damage to persons or property as a matter o products liability, negligence or otherwise, or rom any use or operation o any methods, products, instructions, or ideas contained in the material herein. Previous editions copyrighted 2008, 2001, 1996, 1987, 1976, 1971 ISBN: 978-1-4557-4165-6 Content Development Manager: Ellen Wurm-Cutter Content Development Specialist: Andrea Hunolt Publishing Services Manager: Julie Eddy Senior Project Managers: Andrea Campbell, Celeste Clingan Design Direction: Paula Catalano Printed in the United States o America Last digit is the print number: 9 8 7 6 5 4 3 2 1 De d ic a tio n to S e ve n th Ed itio n Me ntor, Colle ague , Frie nd On behal o the worldwide community o clinical laboratorians, we are pleased to dedicate this edition o the Tietz Fundamentals of Clinical Chemistry and Molecular Diagnostics to Pro essor Norbert W. ietz, Ph.D. T rough his many scienti c, educational, and editorial ef orts, Pro essor ietz has had a signi cant and worldwide impact on the pro ession, practice, and teaching o clinical laboratory medicine. Pro essor ietz is internationally known or creating and subsequent editing o one o the rst books produced or clinical laboratorians, the internationally acclaimed Fundamentals of Clinical Chemistry. It was the rst modern textbook that integrated clinical chemistry with the basic medical sciences and pathophysiology. Dr. ietz also edited the rst edition o the Textbook of Clinical Chemistry, a re erence text that bridges the gap between the clinical laboratory and medical management by relating pathophysiology to analytical results in health and disease. He has also edited the Clinical Guide to Laboratory Tests and the Applied Laboratory Medicine. In summary, Pro essor ietz has been and continues to be a strong advocate o clinical chemistry, and through his energetic scienti ic, educational, and editorial e orts he has encouraged countless clinical chemists, clinical pathologists, and medical technologists to advance their pro ession by linking progress in laboratory medicine with the practice o medicine. he name o ietz is synonymous with the pro ession and practice o quality laboratory medicine. It is our distinct pleasure to dedicate this edition o the Fundamentals of Clinical Chemistry and Molecular Diagnostics to an individual who has had such a signi icant impact on our pro ession and our careers. This page intentionally left blank

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