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Sclerosing Bone Dysplasias

Sclerosing Bone Dysplasias
Author: P. Beighton
Publisher: Springer Science & Business Media
Total Pages: 193
Release: 2012-12-06
Genre: Medical
ISBN: 144711292X

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Much confusion exists in the accurate identification and classification of the many disorders in infancy which affect the skeleton by producing sclerosing lesions throughout the entire skeleton or in selected areas. A scholarly effort to bring order into this confusing field must be welcomed. Professors Beighton and Cremin have skillfully defined the problem and concisely yet thoroughly have identified the various sclerosing dysplasias. They bring to this task a wealth of clinical experience in their many years in the Departments of Radiology at the University of Cape Town Medical School and the Groote Schuur and Red Cross Children's Hospitals in Cape Town, South Africa. The authors also have had available data from the University of Cape Town Skeletal Dysplasia Registry. Professors Beighton and Cremin have used as a basis for their treatise the Paris Nomenclature (the modified version of 1977). This monograph is a felicitous combination of a working atlas and a scholarly exposition of the various sclerosing bone dysplasias, considering in detail eighteen major entities adopted from the Paris classification. Other disorders which present with osteosclerosis are also described. These include Caffey disease, oculodento-osseous dysplasia, central osteosclerosis with bamboo hair, fluorosis, osteosclerosis associated with renal disease and mastocytosis.


Pediatric Bone

Pediatric Bone
Author: Francis H. Glorieux
Publisher: Academic Press
Total Pages: 885
Release: 2011-09-28
Genre: Medical
ISBN: 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).


Metabolic Bone Diseases

Metabolic Bone Diseases
Author: Pauline M. Camacho
Publisher: Springer
Total Pages: 271
Release: 2019-02-22
Genre: Medical
ISBN: 3030036944

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This concise, case-based text discusses the current state of the art for the diagnosis and management of metabolic bones diseases. Each chapter opens with a unique case presentation and utilizes a consistent format that includes relevant anatomy, physiology, and pathophysiology as well as examination, treatment approaches and clinical outcomes. Topics covered include osteoporosis, rickets and osteomalacia, hypoparathyroidism and pseudohypoparathyroidism, osteogenesis imperfecta, Paget's disease of bone, calcium and phosphorous disorders, hypophosphatasia, sclerotic bone disorders, fibrous and osteochondroplasia, and other malignancies of bone. Written and edited by experts in the field, Metabolic Bone Diseases is a valuable resource for practicing endocrinologists, rheumatologists and orthopedic surgeons, residents and fellows.


Primer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism

Primer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism
Author: Juliet E. Compston
Publisher: John Wiley & Sons
Total Pages: 559
Release: 2009-12-22
Genre: Science
ISBN: 0470623985

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EDITOR-IN-CHIEF: Clifford J. Rosen, M.D., Maine Medical Center Research Institute, Scarborough, Maine SENIOR ASSOCIATE EDITORS: Juliet E. Compston, M.D., FRCP, University of Cambridge School of Clinical Medicine, Cambridge, United Kingdom Jane B. Lian, Ph.D., University of Massachusetts Medical School, Worcester, Massachusetts This comprehensive yet concise handbook is an indispensable reference for the many clinicians who see patients with disorders of bone formation, metabolic bone diseases, or disorders of stone formation. It is also a crucial tool for researchers, students, and all other professionals working in the bone field. In a format designed for quick reference, it provides complete information on the symptoms, pathophysiology, diagnosis, and treatment of all common and rare bone and mineral disorders. New in this edition: detailed coverage of osteonecrosis of the jaw, more in-depth coverage of cancer and bone including new approaches to pathogenesis, diagnosis, and treatment; new approaches to anabolic therapy of osteoporosis; the latest research on Vitamin D; expanded coverage of international topics; more on the genetics of bone mass; and newer imaging techniques for the skeleton. In addition, this edition features a free, online-only appendix of medicines used to treat bone disorders and their availability around the world.


Bone Dysplasias

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.


Bone Dysplasias of Infancy

Bone Dysplasias of Infancy
Author: B. J. Cremin
Publisher: Springer Science & Business Media
Total Pages: 236
Release: 2012-12-06
Genre: Medical
ISBN: 3642483070

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The tremendous expansion of medical knowledge during the last few decades, together with the introduction of many new diagnostic techniques, has demanded such a degree of specialisation that no single individual can be conversant with all the information available. More and more emphasis, therefore, has been placed on the importance of teamwork and close collaboration between associated disciplines. The bone dysplasias of infancy represent a classical example of this concept. Only a few years ago these heritable conditions were divided into a relatively small number of entities, for many of which "atypical variants" were accepted. More recent studies have resulted in appreciation and early recognition of a large number of these disorders, thanks to co-operation between paediatricians, radiologists, geneticists and biochemists. Not only maya reasonably accurate prognosis be offered for the affected child in many instances, but, almost of greater value, genetic counselling concerning the chance of subsequent offspring being similarly affected has become available to parents. Most radiologists have little opportunity of becoming familiar with this rapidly widening field of diagnosis, so that the occasional case which may be encountered is likely to engender diagnostic difficulty. This Atlas should facilitate greatly the solution of the problem. It has been prepared by Professor CREMIN, an outstanding paediatric radiologist whose work has been known and admired by me for many years, in close collaboration with his colleague Professor BEIGHTON, a geneticist of great distinction.


Genetics of Bone Biology and Skeletal Disease

Genetics of Bone Biology and Skeletal Disease
Author: Rajesh V. Thakker
Publisher: Academic Press
Total Pages: 878
Release: 2017-10-31
Genre: Medical
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


Bone Dysplasias

Bone Dysplasias
Author: Jürgen W. Spranger
Publisher: Oxford University Press
Total Pages: 976
Release: 2018-10-25
Genre: Medical
ISBN: 0190626666

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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.


Pathology of Bone and Joint Disorders Print and Online Bundle

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.