Osteogenesis Imperfecta

1st Edition

A Translational Approach to Brittle Bone Disease

Editors: Peter Byers Francis Glorieux Paul Sponseller
Hardcover ISBN: 9780123971654
eBook ISBN: 9780123977892
Imprint: Academic Press
Published Date: 11th September 2013
Page Count: 578
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Description

Osteogenesis Imperfecta is the first translational reference professionals can turn to for a source of comprehensive information on this disorder. Although several reviews of the field have been published in various journals, there is no other single source for a compendium of current information. Separate chapters discuss each of the several clinical features of OI. Ethical issues related to OI are discussed, as is the importance of nutrition in managing the OI child and the OI adult. The role of physical medicine and rehabilitation for OI patients is also presented, along with the current status of OI medical treatment and the prospects for genetic engineering in the future. The text also provides the orthopedic surgeon with an advanced discussion of surgical techniques applicable to OI.

Key Features

  • Incorporates chapters and information on the ethical issues related to osteogenesis imperfecta (OI) as will the importance of nutrition in managing the OI child and the OI adult
  • Offers new insights into the underlying mechanisms of collagen biochemistry as related to OI as well as a presentation of intracellular collagen processing and the expanded role of protein chaperones in OI
  • Discusses the role of physical medicine and rehabilitation for OI patients and the current status of OI medical treatment as well as prospects for genetic engineering in the future
  • Provides a unique overview for the orthopedic surgeon with an advanced discussion of surgical techniques applicable to OI

Readership

Biomedical researchers and research clinicians in the fields of endocrinology, orthopedics, pediatrics, rheumatology, and genetics, who study and treat bone diseases

Table of Contents

Foreword

Acknowledgments

List of Contributors

Section 1: INTRODUCTION

Introduction to Osteogenesis Imperfecta

Jay R. Shapiro, Peter Byers, Francis Glorieux and Paul Sponseller

1. Evolution of the Present Understanding of the Clinical and Genetic Heterogeneity and Molecular and Biochemical Basis of Osteogenesis Imperfecta

David Owen Sillence and Shireen R. Lamande

2. Clinical and Genetic Classification of Osteogenesis Imperfecta and Epidemiology

Jay R. Shapiro

3. The Osteogenesis Imperfecta Community and Scientific Research: A Valuable Partnership

Tracy Smith Hart and Mary Beth Huber

Section 2: BONE BIOLOGY, STRUCTURE AND BIOCHEMISTRY

4. Mineralized Tissue: Histology, Biology and Biochemistry

Adele L. Boskey and Stephen B. Doty

5. Osteoblast/Osteoclast Development and Function in Osteogenesis Imperfecta

Neal S. Fedarko

6. The Collagen Folding Machinery: Biosynthesis and Post-Translational Modifications of Collagens

Elena Pokidysheva, Kazunori Mizuno and Hans Peter Bächinger

7. Collagen Structure, Folding and Function

Elena Makareeva and Sergey Leikin

8. Bone Matrix Proteoglycans in Skeletal Function

Vardit Kram and Marian F. Young

Section 3: CLINICAL AND MOLECULAR GENETICS OF OSTEOGENESIS IMPERFECTA

9. Patterns of Inheritance in Osteogenesis Imperfecta

Julie S. Cohen

10. Osteogenesis Imperfecta Genotypes and Genotype–Phenotype Relationships

Raymond Dalgleish

Section 4: COL1A1 AND COL1A2 MUTATIONS

11. Structural Consequences of Glycine Missense Mutations in Osteogenesis Imperfecta

Barbara Brodsky and Anton Persikov

12. Haploinsufficiency for Mutations in Type I Collagen Genes: Mechanisms

Details

No. of pages:
578
Language:
English
Copyright:
© Academic Press 2014
Published:
Imprint:
Academic Press
eBook ISBN:
9780123977892
Hardcover ISBN:
9780123971654

About the Editor

Peter Byers

Affiliations and Expertise

Professor of Pathology and of Medicine; Adjunct Professor of Genome Sciences, Department of Genomic Sciences, University of Washington, Seattle, WA, USA

Francis Glorieux

Affiliations and Expertise

Professor of Surgery, Pediatrics and Human Genetics, McGill University; Adjunct Professor of Pediatrics, University of Montreal; Director of Research, Shriners Hospital for Children, Montreal, QC Canada

Paul Sponseller

Affiliations and Expertise

Director, Division of Orthopaedics and Chief, Division of Pediatric Orthopaedics Johns Hopkins Children’s Center; Professor of Orthopaedic Surgery, Johns Hopkins University School of Medicine, Baltimore, MD, USA

Reviews

"Shapiro…, Byers, Glorieux, and Sponseller compile 58 chapters by an international group of orthopedists, geneticists, bone specialists, and other physicians and researchers, who describe osteogenesis imperfecta. They address the basic science and clinical practice, as well as future research and its relevance to treatment and care, for basic scientists and clinicians."--Reference & Research Book News, December 2013
"A monumental nearly 600 page textbook about OI has recently been published. This comprehensive reference is a collection of chapters by an international group of physicians and researchers…Their goal was to bring together in one volume the latest information about the biochemistry, genetics, research questions and treatments available to manage OI in children and adults. A special feature is an advanced discussion of surgical techniques applicable to OI."--OI Foundation E-News, September 2013