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Primer on the metabolic bone diseases and disorders of mineral metabolism PDF

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Primer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism Ninth Edition An Official Publication of the American Society for Bone and Mineral Research Primer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism Ninth Edition Editor-in-Chief John P. Bilezikian, MD, PhD (hon) Senior Associate Editors Roger Bouillon, MD, PhD, FRCP Thomas Clemens, PhD Juliet Compston, OBE, MD, FRCP, FRCPE, FRCPath, FMedSci Associate Editors Douglas C. Bauer, MD Peter R. Ebeling, AO, MBBS, MD, FRACP Klaus Engelke, PhD David Goltzman, MD Theresa Guise, MD Suzanne M. Jan de Beur, MD Harald Jüppner, MD Karen Lyons, PhD Laurie McCauley, DDS, MS, PhD Michael R. McClung, MD, FACP, FACE Paul D. Miller, MD, FACP Socrates E. Papapoulos, MD, PhD G. David Roodman, MD, PhD Clifford J. Rosen, MD Ego Seeman, BSc, MBBS, FRACP, MD, AM Rajesh V. Thakker, MD, ScD, FRCP, FRCPath, FMedSci, FRS Michael P. Whyte, MD Mone Zaidi, MD, PhD, FRCP This edition first published 2019 © 2019 by American Society for Bone and Mineral Research Edition History First Edition published by American Society for Bone and Mineral Research © 1990 American Society for Bone and Mineral Research Second Edition published by Raven Press, Ltd. © 1993 American Society for Bone and Mineral Research Third Edition published by Lippincott-Raven Publishers © 1996 American Society for Bone and Mineral Research Fourth Edition published by Lippincott Williams & Wilkins © 1999 American Society for Bone and Mineral Research Fifth Edition published by American Society for Bone and Mineral Research © 2003 American Society for Bone and Mineral Research Sixth Edition published by American Society for Bone and Mineral Research © 2006 American Society for Bone and Mineral Research Seventh Edition published by American Society for Bone and Mineral Research © 2008 American Society for Bone and Mineral Research Eighth Edition published by American Society for Bone and Mineral Research © 2013 American Society for Bone and Mineral Research 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, except as permitted by law. Advice on how to obtain permission to reuse material from this title is available at http://www.wiley.com/go/permissions. The right of John P. Bilezikian to be identified as the author of the editorial material in this work has been asserted in accordance with law. Registered Office John Wiley & Sons, Inc., 111 River Street, Hoboken, NJ 07030, USA Editorial Office 111 River Street, Hoboken, NJ 07030, USA For details of our global editorial offices, customer services, and more information about Wiley products visit us at www.wiley.com. Wiley also publishes its books in a variety of electronic formats and by print-on-demand. Some content that appears in standard print versions of this book may not be available in other formats. Limit of Liability/Disclaimer of Warranty While the publisher and authors have used their best efforts in preparing this work, they make no representations or warranties with respect to the accuracy or completeness of the contents of this work and specifically disclaim all warranties, including without limitation any implied warranties of merchantability or fitness for a particular purpose. No warranty may be created or extended by sales representatives, written sales materials or promotional statements for this work. The fact that an organization, website, or product is referred to in this work as a citation and/or potential source of further information does not mean that the publisher and authors endorse the information or services the organization, website, or product may provide or recommendations it may make. This work is sold with the understanding that the publisher is not engaged in rendering professional services. The advice and strategies contained herein may not be suitable for your situation. You should consult with a specialist where appropriate. Further, readers should be aware that websites listed in this work may have changed or disappeared between when this work was written and when it is read. Neither the publisher nor authors shall be liable for any loss of profit or any other commercial damages, including but not limited to special, incidental, consequential, or other damages. Library of Congress Cataloging-in-Publication Data Names: Bilezikian, John P., editor. Title: Primer on the metabolic bone diseases and disorders of mineral metabolism. Description: Ninth edition / editor-in-Chief, John P. Bilezikian, MD, PhD (hon) ; senior associate editors, Roger Bouillon, MD, PhD, FRCP, Tom Clemens, PhD, Juliet Compston, MD, FRCP, FRCPath, FMedSci ; associate editors, Doug Bauer, MD [and nine others]. | Hoboken, NJ : Wiley-Blackwell, 2019. | Includes bibliographical references and index. | Identifiers: LCCN 2018038448 (print) | LCCN 2018038631 (ebook) | ISBN 9781119266570 (Adobe PDF) | ISBN 9781119266587 (ePub) | ISBN 9781119266563 (paperback) Subjects: LCSH: Bones–Metabolism–Disorders. | Mineral metabolism–Disorders. | Bones–Diseases. | Minerals–Metabolism. | BISAC: SCIENCE / Life Sciences / Cytology. Classification: LCC RC931.M45 (ebook) | LCC RC931.M45 P75 2019 (print) | DDC 616.7/16–dc23 LC record available at https://lccn.loc.gov/2018038448 Cover images: (Top row left to right) © Wiley; © Paul Gunning/Science Source; By kind permission of Alan Boyde; Courtesy of Kevin Mackenzie, Microscopy Facility University of Aberdeen; © GenScript USA Inc.; © Designua/Shutterstock; Reproduced with permission from Juliet Compston, M.D.; (Bottom row left to right) Courtesy of Prof. Ego Seeman; © designua/123RF; © SCOTT CAMAZINE/science source; © ZEPHYR/science source; (Floor) © DonNichols/Getty Images; (Frames) © iStock.com/JackF Cover design by Wiley Set in 9.5/11pt TrumpMediaeval by SPi Global, Pondicherry, India 10 9 8 7 6 5 4 3 2 1 Contents Contributors xi 9 Recent Developments in Understanding the Role Preface to the Ninth Edition of the Primer: of Wnt Signaling in Skeletal Development John P. Bilezikian xxiv and Disease 68 About ASBMR xxv Zhendong A. Zhong, Nicole J. Ethen, and Bart O. Williams President’s Preface: Michael J. Econs xxvi About the Companion Website xxvii 10 Mechanotransduction in Bone Formation and Maintenance 75 Section I: Molecular and Cellular Determinants Whitney A. Bullock, Lilian I. Plotkin, Alexander of Bone Structure and Function 1 G. Robling, and Fredrick M. Pavalko Section Editor: Karen Lyons 11 The Composition of Bone 84 1 Early Skeletal Morphogenesis in Embryonic Adele L. Boskey and Pamela G. Robey Development 3 Yingzi Yang 12 Assessment of Bone Mass, Structure, and Quality in Rodents 93 2 Endochondral Ossification 12 Jeffry S. Nyman and Deepak Vashishth Courtney M. Karner and Matthew J. Hilton 13 Skeletal Healing: Cellular and Molecular 3 Local and Circulating Osteoprogenitor Determinants 101 Cells and Lineages 20 Alayna E. Loiselle and Michael J. Zuscik Naomi Dirckx and Christa Maes 14 Biomechanics of Fracture Healing 108 4 Osteoblasts: Function, Development, Elise F. Morgan, Amira I. Hussein, and Regulation 31 and Thomas A. Einhorn Elizabeth W. Bradley, Jennifer J. Westendorf, Andre J. van Wijnen, and Amel Dudakovic Section II: Skeletal Physiology 115 Section Editor: Ego Seeman 5 Osteocytes 38 Lynda F. Bonewald 15 Human Fetal and Neonatal Bone Development 117 6 Osteoclast Biology and Bone Resorption 46 Tao Yang, Monica Grover, Kyu Sang Joeng, Hiroshi Takayanagi and Brendan Lee 7 Signal Transduction Cascades Controlling 16 Skeletal Growth: a Major Determinant of Bone’s Osteoblast Differentiation 54 Structural Diversity in Women and Men 123 David J.J. de Gorter, Gonzalo Sánchez‐Duffhues, Ego Seeman and Peter ten Dijke 17 Racial Differences in the Acquisition 8 The TGF‐β Superfamily in Bone Formation and Age‐related Loss of Bone Strength 131 and Maintenance 60 Shane A. Norris, Marcella D. Walker, Kate Ward, Ce Shi and Yuji Mishina Lisa K. Micklesfield, and John M. Pettifor v vi Contents 18 Calcium, Vitamin D, and Other Nutrients During Section IV: Investigation of Metabolic Bone Growth 135 Diseases 241 Tania Winzenberg and Graeme Jones Section Editors: Douglas C. Bauer and Klaus Engelke 19 Mechanical Loading and the Developing  Skeleton 141 31 Techniques of Bone Mass Measurement Mark R. Forwood in Children with Risk Factors for Osteoporosis 243 Nicola J. Crabtree and Leanne M. Ward 20 Pregnancy and Lactation 147 Christopher S. Kovacs and Henry M. Kronenberg 32 Standard Techniques of Bone Mass Measurement in Adults 252 21 Menopause and Age‐related Bone Loss 155 E. Michael Lewiecki, Paul D. Miller, Carlos M. Isales and Ego Seeman and Nelson B. Watts 33 Advanced Techniques of Bone Mass Measurements Section III: Mineral Homeostasis 163 and Strength in Adults 260 Section Editors: David Goltzman Kyle K. Nishiyama, Enrico Dall’Ara, and Harald Jüppner and Klaus Engelke 22 Regulation of Calcium Homeostasis 165 34 Magnetic Resonance Imaging of Bone 272 Line Vautour and David Goltzman Sharmila Majumdar 23 Magnesium Homeostasis 173 35 Trabecular Bone Score 277 Aliya Aziz Khan, Asiya Sbayi, and Karl Peter Barbara C. Silva and William D. Leslie Schlingmann 24 Fetal Calcium Metabolism 179 36 Reference Point Indentation 287 Christopher S. Kovacs Adolfo Diez‐Perez and Joshua N. Farr 25 FGF23 and the Regulation of Phosphorus 37 Biochemical Markers of Bone Turnover Metabolism 187 in Osteoporosis 293 Kenneth E. White and Michael J. Econs Pawel Szulc, Douglas C. Bauer, and Richard Eastell 26 Gonadal Steroids 194 Stavros C. Manolagas and Maria Schuller 38 Scintigraphy and PET in Metabolic Almeida Bone Disease 302 Lorenzo Nardo, Paola A. Erba, and Benjamin L. Franc 27 Parathyroid Hormone 205 Thomas J. Gardella, Robert A. Nissenson, and Harald Jüppner 39 Bone Histomorphometry in Clinical Practice 310 28 Parathyroid Hormone‐Related Protein 212 Robert R. Recker and Carolina John J. Wysolmerski and T. John Martin Aguiar Moreira 29 Calcium‐Sensing Receptor 221 40 Diagnosis and Classification of Vertebral Geoffrey N. Hendy Fracture 319 James F. Griffith and Harry K. Genant 30 Vitamin D: Production, Metabolism, Action, and Clinical Requirements 230 41 FRAX: Assessment of Fracture Risk 331 Daniel D. Bikle, John S. Adams, and Sylvia John A. Kanis, Eugene V. McCloskey, Christakos Nicholas C. Harvey, and William D. Leslie Contents vii Section V: Genetics of Bone 341 53 Juvenile Osteoporosis 419 Section Editor: Rajesh V. Thakker Francis H. Glorieux and Craig Munns 42 Introduction to Genetics 343 54 Transplantation Osteoporosis 424 Paul J. Newey, Michael P. Whyte, and Peter R. Ebeling Rajesh V. Thakker 55 Premenopausal Osteoporosis 436 43 Animal Models: Genetic Manipulation 351 Adi Cohen and Elizabeth Shane Karen Lyons 56 Osteoporosis in Men 443 44 Animal Models: Allelic Determinants for Bone Eric S. Orwoll and Robert A. Adler Mineral Density 359 J. H. Duncan Bassett, Graham R. Williams, and Robert D. Blank 57 Bone Stress Injuries 450 Stuart J. Warden and David B. Burr 45 Transcriptional Profiling for Genetic Assessment 367 58 Inflammation‐Induced Bone Loss in the Aimy Sebastian and Gabriela G. Loots Rheumatic Diseases 459 Ellen M. Gravallese and Steven R. Goldring 46 Approaches to Genetic Testing 373 Christina Jacobsen, Yiping Shen, and 59 Glucocorticoid‐Induced Osteoporosis 467 Ingrid A. Holm Kenneth Saag and Robert A. Adler 47 Human Genome‐Wide Association Studies 378 Douglas P. Kiel, Emma L. Duncan, and Fernando 60 Human Immunodeficiency Virus and Bone 474 Michael T. Yin and Todd T. Brown Rivadeneira 48 Translational Genetics of Osteoporosis: From 61 Effects on the Skeleton from Medications Used Population Association to Individualized to Treat Nonskeletal Disorders 482 Nelson B. Watts Assessment 385 Bich Tran, Jacqueline R. Center, and Tuan V. Nguyen 62 Diabetes and Fracture Risk 487 Serge Ferrari, Nicola Napoli, and Ann Schwartz Section VI: Osteoporosis 393 Section Editors: Paul D. Miller, Socrates E. Papapoulos, and Michael R. McClung 63 Obesity and Skeletal Health 492 Juliet Compston 49 Osteoporosis: An Overview 395 Michael R. McClung, Paul D. Miller, and Socrates 64 Sarcopenia and Osteoporosis 498 E. Papapoulos Gustavo Duque and Neil Binkley 50 The Epidemiology of Osteoporotic Fractures 398 65 Management of Osteoporosis in Patients Nicholas C. Harvey, Elizabeth M. Curtis, Elaine M. with Chronic Kidney Disease 505 Dennison, and Cyrus Cooper Paul D. Miller 51 Fracture Liaison Service 405 66 Other Secondary Causes of Osteoporosis 510 Piet Geusens, John A. Eisman, Andrea Singer, and Neveen A. T. Hamdy and Natasha M. Joop van den Bergh Appelman‐Dijkstra 52 Sex Steroids and the Pathogenesis 67 Exercise for Osteoporotic Fracture Prevention of Osteoporosis 412 and Management 517 Matthew T. Drake and Sundeep Khosla Robin M. Daly and Lora Giangregorio viii Contents 68 Prevention of Falls 526 82 Primary Hyperparathyroidism 619 Heike A. Bischoff‐Ferrari Shonni J. Silverberg, Francisco Bandeira, Jianmin Liu, Claudio Marcocci, and Marcella D. Walker 69 Nutritional Support for Osteoporosis 534 Connie M. Weaver, Bess Dawson‐Hughes, 83 Familial States of Primary Rene Rizzoli, and Robert P. Heaney Hyperparathyroidism 629 Andrew Arnold, Sunita K. Agarwal, and Rajesh V. Thakker 70 Estrogens, Selective Estrogen Receptor Modulators, and Tissue‐Selective Estrogen Complex 541 Tobias J. de Villiers 84 Non‐Parathyroid Hypercalcemia 639 Mara J. Horwitz 71 Bisphosphonates for Postmenopausal Osteoporosis 545 85 Hypocalcemia: Definition, Etiology, Pathogenesis, Andrea Giusti and Socrates E. Papapoulos Diagnosis, and Management 646 Anne L. Schafer and Dolores M. Shoback 72 Denosumab 553 Aline Granja Costa, E. Michael Lewiecki, 86 Hypoparathyroidism 654 and John P. Bilezikian Tamara Vokes, Mishaela R. Rubin, Karen K. Winer, Michael Mannstadt, Natalie E. Cusano, Harald Jüppner, and John P. Bilezikian 73 Parathyroid Hormone and Abaloparatide Treatment for Osteoporosis 559 Felicia Cosman and Susan L. Greenspan 87 Pseudohypoparathyroidism 661 Agnès Linglart, Michael A. Levine, and Harald Jüppner 74 Combination Anabolic and Antiresorptive Therapy for Osteoporosis 567 Joy N. Tsai and Benjamin Z. Leder 88 Disorders of Phosphate Homeostasis 674 Mary D. Ruppe and Suzanne M. Jan de Beur 75 Strontium Ranelate and Calcitonin 573 Leonardo Bandeira and E. Michael Lewiecki 89 Rickets and Osteomalacia 684 Michaël R. Laurent, Nathalie Bravenboer, Natasja M. Van Schoor, Roger Bouillon, John M. 76 Adverse Effects of Drugs for Osteoporosis 579 Pettifor, and Paul Lips Bo Abrahamsen and Daniel Prieto‐Alhambra 90 Pathophysiology and Treatment of Chronic Kidney 77 Orthopedic Principles of Fracture Disease–Mineral and Bone Disorder 695 Management 588 Mark R. Hanudel, Sharon M. Moe, Manoj Ramachandran and David G. Little and Isidro B. Salusky 78 Adherence to Osteoporosis Therapies 593 91 Disorders of Mineral Metabolism in Childhood 705 Stuart L. Silverman and Deborah T. Gold Thomas O. Carpenter and Nina S. Ma 79 Cost‐Effectiveness of Osteoporosis Treatment 597 92 Paget Disease of Bone 713 Anna N.A. Tosteson Julia F. Charles, Ethel S. Siris, and G. David Roodman 80 Future Therapies 603 Michael R. McClung 93 Epidemiology, Diagnosis, Evaluation, and Treatment of Nephrolithiasis 721 Section VII: Metabolic Bone Diseases 611 Murray J. Favus and David A. Bushinsky Section Editors: Suzanne M. Jan de Beur and Peter R. Ebeling 94 Immobilization and Burns: Other Conditions Associated with Osteoporosis 730 81 Approach to Parathyroid Disorders 613 William A. Bauman, Christopher Cardozo, and John P. Bilezikian Gordon L. Klein

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