Bone Dysplasias

by Jürgen W. Spranger
Bone Dysplasias
Author: Jürgen W. Spranger
Publisher: Oxford University Press, USA
Total Pages: 929
Release: 2018
Genre: Medical
ISBN: 0190626658
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The definitive guide to genetic bone disorders, now revised and expanded with glossy photographs and radiographs "Brilliantly written and produced and deserves to be on the shelves of all pediatric radiologists. It should also be available to geneticists, counselors, and pediatricians." --Radiology This updated and expanded fourth edition of Bone Dysplasias presents age-related radiographs, photographs and clinical guidelines for more than 250 rare constitutional skeletal diseases. Focusing on diagnostically essential imaging and clinical features, each chapter is supplemented with prognostic and therapeutic information, a guide to differential diagnoses, and a short list of the most relevant publications. Organized in accordance with the most recent International Nosology and Classification of Genetic Skeletal Disorders, this new Bone Dysplasias distills the insights of a small, world-class author team on diagnosis and clinical approaches to this most difficult class of disorders.

Bone Dysplasias

by Jürgen W. Spranger
Bone Dysplasias
Author: Jürgen W. Spranger
Publisher: Oxford University Press, USA
Total Pages: 306
Release: 2002
Genre: Bone Diseases, Developmental
ISBN: 9780195214741
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Many advances have been made in understanding skeletal dysplasias since the first edition of this classic text appeared in 1974. The diagnostic process has been refined, many new disorders have been recognized, and the molecular aspects in many cases have been elucidated. The second edition has been completely renovated, with the help of two new co-authors, to incorporate these advances. The book's format is similar to the original but the number of conditions covered has almost doubled and molecular information has been added wherever available. The number of figures has been increased to the limit of economic wisdom. As in the first edition, the illustrations have been selected and sequenced to illustrate both the degree of variability of a given disorder and its changs with age. This book is designed for physicians involved in the evaluation and treatment of patients with skeletal dysplasias, including radiologists, medical geneticists, pediatricians, and orthopedic surgeons. Its main goal is to assist in the diagnosis of specific conditions and the care of affected individuals. Though mutations of specific genes can produce dysplasias with very different phenotypes and prognoses, the primarily clinical aim of this book dictated a phenotypic classification in general, with compromises on etiologic grounds where necessary. Since the attempt to diagnose a skeletal dysplasia from single signs, alone or in cominations, is fraught with errors, the authors focus on basic patterns of skeletal abnormalities.

Genetics of Bone Biology and Skeletal Disease

by Rajesh V. Thakker
Genetics of Bone Biology and Skeletal Disease
Author: Rajesh V. Thakker
Publisher: Academic Press
Total Pages: 880
Release: 2017-10-31
Genre: Science
ISBN: 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

Taybi and Lachman's Radiology of Syndromes, Metabolic Disorders, and Skeletal Dysplasias

by Ralph S. Lachman
Taybi and Lachman's Radiology of Syndromes, Metabolic Disorders, and Skeletal Dysplasias
Author: Ralph S. Lachman
Publisher: Mosby
Total Pages: 0
Release: 2007
Genre: Bones
ISBN: 9780323019316
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"Revised to reflect the latest advances, the 5th edition of this book: brings you new and expanded coverage of CT, MRI, and ultrasonographic manifestations; provides several illustrative examples of the evolution of a syndrome from infancy to adult life; includes more than 100 new skeletal dysplasias, covering everything from their frequency and clinical and radiological manifestations ... to modes of inheritance and differential diagnosis; presents genetic information on syndromes and disorders, while also covering a number of non-genetic entities; features an expanded Chromosome disorders section that includes guidance on when to test for these conditions; includes a section on Gamuts that helps you look up conditions based on individual traits; and offers an updated Brachydactyly section for the latest guidance in addressing these isolated disorders." "Short, concise descriptions of entities help you glean the most information in the least time, and an alphabetical organization expedites access to the specific information you need for common and uncommon conditions."--Résumé de l'éditeur.

Human Malformations and Related Anomalies

by Roger E. Stevenson
Human Malformations and Related Anomalies
Author: Roger E. Stevenson
Publisher: Oxford University Press
Total Pages: 1510
Release: 2005-10-27
Genre: Medical
ISBN: 019974808X
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This widely acclaimed reference work gives a comprehensive survey of all significant human malformations and related anomalies from the perspective of the clinician. The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly. When known, the molecular or other pathogenetic basis for the malformation is given. Most anomalies are illustrated by photographs or drawings. Specific malformations are linked to syndromes through the extensive use of differential diagnosis tables. Over a decade has passed since the first edition of this book was published, and the revised edition fully incorporates the advances made in the field during the intervening years.. It reflects new understanding of human developmental biology that has emerged from molecular, cytogenetic, and biochemical studies; new observations by clinicians as well as enhanced diagnostic and prevention capacities; and more accurate and comprehensive epidemiology. By condensing much of the information presented in the first volume of the previous edition, and exercising rigorous editorial control, Drs. Stevenson and Hall and their contributors have managed to update the book while reducing its size to that of a single volume. All clinicians and scientists interested in birth defects, including pediatricians, geneticists, genetic counselors, obstetricians, and pediatric pathologists, will find this book to be an invaluable source of information.

Calcium and Bone Disorders in Children and Adolescents

by J. Allgrove
Calcium and Bone Disorders in Children and Adolescents
Author: J. Allgrove
Publisher: Karger Medical and Scientific Publishers
Total Pages: 444
Release: 2015-06-11
Genre: Medical
ISBN: 3318054674
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There has been a rapid expansion of knowledge in the field of paediatric calcium and bone disorders over the past twenty years. Advances have been made in the underlying genetic basis for many conditions in conjunction with progress in bone density and geometry imaging and the development of new treatment options. The 2nd revised edition of ‘Calcium and Bone Disorders in Children and Adolescents’ presents up-to-date information on many aspects included in the 1st edition such as the physiology, pathology, diagnosis and management of numerous conditions including a chapter of case histories illustrating clinical aspects. New chapters on skeletal dysplasias, the genetics of osteoporosis, radiological imaging of bone and a practical approach to a child with recurrent fractures are included. Providing a comprehensive update, this book is a useful clinical resource for paediatricians and specialists in endocrinology, metabolic bone disease, nephrology, rheumatology, radiology, orthopaedics and clinical genetics who may be faced with a child with a calcium and/or bone disorder.

Hereditary Bone and Joint Diseases in the Dog

by Joe P. Morgan
Hereditary Bone and Joint Diseases in the Dog
Author: Joe P. Morgan
Publisher: Schlütersche
Total Pages: 334
Release: 2000
Genre: Medical
ISBN: 9783877065488
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This book provides unique material that goes far beyond a description of bone and joint disorders alone. Each chapter provides information on the history, pathogenesis, diagnosis (physical and radiographic), therapy and prognosis of a particular canine skeletal disease as well as how the disease will affect the dog's life. The text covers all clinically relevant physical regions in the dog, eg, shoulder, elbow, hip, stifle and tarsus, and presents a group of actual, clinical osteochondrosis cases involving different anatomical locations. The authors address the importance of selection of dogs for breeding, including changes in breed appearance and disease propensity and the effect of high-energy diets in fast-growing animals. Discussion includes the impact of a lifetime of pain for the affected dog and the treatment expense for clients, yet provides steps that help the owner curb the progressive aspects of bone or joint diseases and manage the animal's discomfort. In daily practice client questions about skeletal disorders are routine. This remarkable, instructional text will provide answers, incidence figures, advice about surgery and timing, and honest analyses of treatment failures and successes. Here is a fresh look at OCD, dysplasias and other bone diseases, with realistic assessments and positive directives for pet care and client support. Published by Schluetersche, Germany and distributed by Manson Publishing .

Pathology of Bone and Joint Disorders Print and Online Bundle

by Edward F. McCarthy
Pathology of Bone and Joint Disorders Print and Online Bundle
Author: Edward F. McCarthy
Publisher: Cambridge University Press
Total Pages: 385
Release: 2014-11-20
Genre: Medical
ISBN: 1107041236
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Fully updated new edition covering all aspects of bone and joint diseases in one easily readable volume. Color illustrations throughout.

Innovative Medicine

by Kazuwa Nakao
Innovative Medicine
Author: Kazuwa Nakao
Publisher: Springer
Total Pages: 330
Release: 2015-10-13
Genre: Science
ISBN: 4431556516
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This book is devoted to innovative medicine, comprising the proceedings of the Uehara Memorial Foundation Symposium 2014. It remains extremely rare for the findings of basic research to be developed into clinical applications, and it takes a long time for the process to be achieved. The task of advancing the development of basic research into clinical reality lies with translational science, yet the field seems to struggle to find a way to move forward. To create innovative medical technology, many steps need to be taken: development and analysis of optimal animal models of human diseases, elucidation of genomic and epidemiological data, and establishment of “proof of concept”. There is also considerable demand for progress in drug research, new surgical procedures, and new clinical devices and equipment. While the original research target may be rare diseases, it is also important to apply those findings more broadly to common diseases. The book covers a wide range of topics and is organized into three complementary parts. The first part is basic research for innovative medicine, the second is translational research for innovative medicine, and the third is new technology for innovative medicine. This book helps to understand innovative medicine and to make progress in its realization.