Osteogenesis Imperfecta
Osteogenesis Imperfecta

Author: Javaid Kassim

Publisher: Academic Press

Published: 2013-08-06

Total Pages: 578

ISBN-13: 0123977894

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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. - 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

Pediatric Bone
Pediatric Bone

Author: Francis H. Glorieux

Publisher: Academic Press

Published: 2011-09-28

Total Pages: 885

ISBN-13: 0123820405

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Pediatric osteology, a medical specialty that has come of age, has contributed to the understanding of adult bone diseases as well. This second edition reference updates the 2003 edition with more emphasis on management as well as new and revised contributions. Thirty chapters present basic information regarding bone development, tools and techniques for evaluation (including a new chapter on radiographic imaging), and the specifics of various diseases. The three editors are affiliated as follows: Francis H. Glorieux (McGill U., Canada), John M. Pettifor (Chir Hani Baragwanath Hospital, South Africa), and Harald Juppner (Harvard Medical School, US). Academic Press is an imprint of Elsevier. Annotation ©2012 Book News, Inc., Portland, OR (booknews.com).

Handle with Care
Handle with Care

Author: Jodi Picoult

Publisher: Simon and Schuster

Published: 2009-03-03

Total Pages: 498

ISBN-13: 0743296419

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C.1 ST. AID. AMAZON. 03-11-2009. $27.95.

Osteogenesis Imperfecta
Osteogenesis Imperfecta

Author: Dmitry A. Popkov

Publisher: Nova Science Publishers

Published: 2022

Total Pages: 0

ISBN-13: 9781685074999

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Osteogenesis Imperfecta should be recognized as one of the most studied skeletal systemic dysplasias. Considering recent improvements of technology, the diagnostic and therapeutic strategies for this pathology might evolve in the future. This volume presents a collection of chapters covering a wide range of problems related to this condition. Three chapters of the book are dedicated to the modern and revised data on the molecular genetic aspects of the classification and pathogenesis of osteogenesis imperfecta. Detailed descriptions of somatic issues are presented for all body systems. Principles and results of bisphosphonate therapy and other methods of medical management are described by leading Russian specialists in this field. The most significant experience in Russia of medical treatment and physical therapy will arouse the interest of readers. The surgical part of the book is presented not only with a description of principles, methods and results of surgical interventions on the limbs, but also on the axial skeleton. Furthermore, two chapters are dedicated to the anaesthetic aspects of orthopaedic surgery in children with osteogenesis imperfecta. The substantiation is given to the methods of combined anaesthesia and pain management during the surgery, as well as in the immediate postoperative period, taking into account comorbidities. Telescopic rodding of long bones is a recognized gold standard in children with the disease, but there are multiple disadvantages of this approach. In the book we report new methods, combined techniques and technical tricks allowing to overcome inconveniencies and flaws of common steel telescopic intramedullary rods. At the end of the book, we discuss outcomes of complex management and the issue of patients' quality of life after treatment performed by a multidisciplinary team. The high level of quality of life of patients is the prime and principle goal of our team. The data presented in this book are based, on one hand, on the personal, practical, and scientific experience of each author, and on the other hand, the entire team of authors works in collaboration with each other, coordinating their decisions and interventions with colleagues, thus ensuring continuity in treatment of children and adults suffering from Osteogenesis Imperfecta.

Brittle Bones, Stout Hearts and Minds: Adults with Osteogenesis Imperfecta
Brittle Bones, Stout Hearts and Minds: Adults with Osteogenesis Imperfecta

Author: Joan Ablon

Publisher: Jones & Bartlett Publishers

Published: 2010-10-22

Total Pages: 273

ISBN-13: 1449618138

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Brittle Bones, Stout Hearts and Minds is written for patients with Osteogenesis Imperfecta (OI), their families and those who treat them including physicians, nurses, social workers, genetics counselors, and other persons with interests in differing kinds of physical disabilities. The book chronicles life experiences, coping patterns, and strategies for daily living of adults with OI, through personal accounts of medical experiences, education, economics, physical intimacy, dating, marriage, and general lifestyle issues. There are no other comparable books that deal with psychosocial issues of adults with OI.

The Pediatric and Adolescent Hip
The Pediatric and Adolescent Hip

Author: Sattar Alshryda

Publisher: Springer

Published: 2019-06-28

Total Pages: 888

ISBN-13: 3030120031

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This book provides an evidence-based approach to treating the increasing number of children and adolescents presenting with hip disorders. It integrates the most up-to-date data with essential knowledge, gleaned from decades of previous research and practice. Each chapter provides a comprehensive text which integrates relevant pathophysiology, clinical assessment, and imaging, with an evidence-based approach to non-operative and operative management, authored by globally recognized experts in the field of pediatric hip surgery. Detailed surgical techniques, illustrated with original medical drawings and accompanied by their respective indications, anticipated outcomes, and potential complications, are also featured, in this first orthopedic text dedicated solely to the pediatric and adolescent hip. The Paediatric and Adolescent Hip: Essentials and Evidence will be an indispensable resource for wide spectrum of audience including paediatric orthopaedic surgeons, general practitioners, general orthopaedic surgeons, trauma surgeons, orthopaedic residents, emergency department doctors, and physiotherapists seeking a clear and consistent evidence-based guide to treating the paediatric hip.

Cassidy and Allanson's Management of Genetic Syndromes
Cassidy and Allanson's Management of Genetic Syndromes

Author: John C. Carey

Publisher: John Wiley & Sons

Published: 2021-01-27

Total Pages: 1104

ISBN-13: 1119432677

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MANAGEMENT OF GENETIC SYNDROMES THE MOST RECENT UPDATE TO ONE OF THE MOST ESSENTIAL REFERENCES ON MEDICAL GENETICS Cassidy and Allanson’s Management of Genetic Syndromes, Fourth Edition is the latest version of a classic text in medical genetics. With newly covered disorders and cutting-edge, up-to-date information, this resource remains the most crucial reference on the management of genetic syndromes in the field of medical genetics for students, clinicians, caregivers, and researchers. The fourth edition includes current information on the identification of genetic syndromes (including newly developed diagnostic criteria), the genetic basis (including diagnostic testing), and the routine care and management for more than 60 genetic disorders. Written by experts, each chapter includes sections on: Incidence Diagnostic criteria Etiology, pathogenesis and genetics Diagnostic testing Differential diagnosis Manifestations and Management (by system) The book focuses on genetic syndromes, primarily those involving developmental disabilities and congenital defects. The chapter sections dealing with Manifestations and Management represents the centerpiece of each entry and is unmatched by other genetic syndrome references. Management of Genetic Syndromes is perfect for medical geneticists, genetic counselors, primary care physicians and all healthcare professionals seeking to stay current on the routine care and management of individuals with genetic disorders.

Naomi
Naomi

Author: Olivia Shin

Publisher:

Published: 2019-09-14

Total Pages: 38

ISBN-13: 9781087800035

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Meet Naomi. She is 8 years old and has a mom, a dad, and a baby brother named Johnny. Naomi was born with Osteogenesis Imperfecta (OI), and that makes her bones as fragile as glass. This can make life difficult for Naomi when it comes to participating in activities or fitting in with others. But don't take my word for it. Let her tel you in her own words.

Genetics of Bone Biology and Skeletal Disease
Genetics of Bone Biology and Skeletal Disease

Author: Rajesh V. Thakker

Publisher: Academic Press

Published: 2017-10-31

Total Pages: 880

ISBN-13: 0128041986

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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