Download or read book Rare Genetic Disorders That Affect the Skeleton written by H.J. Mankin and published by AuthorHouse. This book was released on 2013-09-23 with total page 107 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genetic disorders that have an effect on connective tissue and especially skeletal parts are rarely encountered by orthopaedic surgeons. The patients are sometimes mildly altered in function and structure but may also present with some severe alterations which not only cause severe disability and deformity, but also mental retardation and early death. Up to this date, there is limited knowledge as to the genetic errors, the causation of localized soft tissue and skeletal alterations and only very limited information as to possible treatment. The purpose of introducing the data for these 14 diseases is to help caretakers and especially orthopaedic surgeons identify the patients based on their clinical presentations and also perform research to assess the causes of the diseases and possibly develop treatment protocols which may help the patients survive and improve their function.

Download or read book Pathology of Bone and Joint Disorders Print and Online Bundle written by Edward F. McCarthy and published by Cambridge University Press. This book was released on 2014-11-20 with total page 385 pages. Available in PDF, EPUB and Kindle. Book excerpt: Fully updated new edition covering all aspects of bone and joint diseases in one easily readable volume. Color illustrations throughout.

Download or read book Bone Health and Osteoporosis written by United States Public Health Service and published by . This book was released on 2004-12 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: This first-ever Surgeon General's Report on bone health and osteoporosis illustrates the large burden that bone disease places on our Nation and its citizens. Like other chronic diseases that disproportionately affect the elderly, the prevalence of bone disease and fractures is projected to increase markedly as the population ages. If these predictions come true, bone disease and fractures will have a tremendous negative impact on the future well-being of Americans. But as this report makes clear, they need not come true: by working together we can change the picture of aging in America. Osteoporosis, fractures, and other chronic diseases no longer should be thought of as an inevitable part of growing old. By focusing on prevention and lifestyle changes, including physical activity and nutrition, as well as early diagnosis and appropriate treatment, Americans can avoid much of the damaging impact of bone disease and other chronic diseases. This Surgeon General's Report brings together for the first time the scientific evidence related to the prevention, assessment, diagnosis, and treatment of bone disease. More importantly, it provides a framework for moving forward. The report will be another effective tool in educating Americans about how they can promote bone health throughout their lives. This first-ever Surgeon General's Report on bone health and osteoporosis provides much needed information on bone health, an often overlooked aspect of physical health. This report follows in the tradition of previous Surgeon Generals' reports by identifying the relevant scientific data, rigorously evaluating and summarizing the evidence, and determining conclusions.

Download or read book Bone Dysplasias written by Jürgen W. Spranger and published by Oxford University Press. This book was released on 2018-10-25 with total page 976 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Download or read book Bone Dysplasias written by Jürgen W. Spranger and published by Oxford University Press, USA. This book was released on 2018 with total page 929 pages. Available in PDF, EPUB and Kindle. Book excerpt: The definitive guide to genetic bone disorders, now revised and expanded with glossy photographs and radiographs.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 prognosticand 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.

Download or read book Osteogenesis Imperfecta written by Javaid Kassim and published by Academic Press. This book was released on 2013-08-06 with total page 578 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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

Download or read book Inherited Disorders of the Skeleton written by Peter Beighton and published by . This book was released on 1988 with total page 508 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Download or read book NORD Guide to Rare Disorders written by National Organization for Rare Disorders and published by Lippincott Williams & Wilkins. This book was released on 2003 with total page 982 pages. Available in PDF, EPUB and Kindle. Book excerpt: NORD Guide to Rare Disorders is a comprehensive, practical, authoritative guide to the diagnosis and management of more than 800 rare diseases. The diseases are discussed in a uniform, easy-to-follow format--a brief description, signs and symptoms, etiology, related disorders, epidemiology, standard treatment, investigational treatment, resources, and references.The book includes a complete directory of orphan drugs, a full-color atlas of visual diagnostic signs, and a Master Resource List of support groups and helpful organizations. An index of symptoms and key words offers physicians valuable assistance in finding the information they need quickly.

Download or read book Bone Dysplasias written by Jürgen W. Spranger and published by . This book was released on 2018 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt: This is a unique atlas presenting age-related radiographs on more than 250 rare constitutional skeletal diseases (dysplasias, dysostoses, osteolyses, disorders of bone density, and more) focusing on diagnostically essential radiographic 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. A major advantage is the systematic conformation of chapters, sparing the reader a cumbersome read-through of longer text. Presentation in accordance with the most recent International Nosology and Classification of Genetic Skeletal Disorders.

Download or read book Sclerosing Bone Dysplasias written by P. Beighton and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 193 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Download or read book Genetics of Bone Biology and Skeletal Disease written by Rajesh V. Thakker and published by Academic Press. This book was released on 2017-10-31 with total page 880 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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

Download or read book Selected Health Conditions and Likelihood of Improvement with Treatment written by National Academies of Sciences, Engineering, and Medicine and published by National Academies Press. This book was released on 2020-07-12 with total page 319 pages. Available in PDF, EPUB and Kindle. Book excerpt: The Social Security Administration (SSA) administers two programs that provide disability benefits: the Social Security Disability Insurance (SSDI) program and the Supplemental Security Income (SSI) program. SSDI provides disability benefits to people (under the full retirement age) who are no longer able to work because of a disabling medical condition. SSI provides income assistance for disabled, blind, and aged people who have limited income and resources regardless of their prior participation in the labor force. Both programs share a common disability determination process administered by SSA and state agencies as well as a common definition of disability for adults: "the inability to engage in any substantial gainful activity by reason of any medically determinable physical or mental impairment which can be expected to result in death or which has lasted or can be expected to last for a continuous period of not less than 12 months." Disabled workers might receive either SSDI benefits or SSI payments, or both, depending on their recent work history and current income and assets. Disabled workers might also receive benefits from other public programs such as workers' compensation, which insures against work-related illness or injuries occurring on the job, but those other programs have their own definitions and eligibility criteria. Selected Health Conditions and Likelihood of Improvement with Treatment identifies and defines the professionally accepted, standard measurements of outcomes improvement for medical conditions. This report also identifies specific, long-lasting medical conditions for adults in the categories of mental health disorders, cancers, and musculoskeletal disorders. Specifically, these conditions are disabling for a length of time, but typically don't result in permanently disabling limitations; are responsive to treatment; and after a specific length of time of treatment, improve to the point at which the conditions are no longer disabling.

Download or read book Pediatric Orthopedics written by Amr Abdelgawad and published by Springer Science & Business Media. This book was released on 2013-09-24 with total page 589 pages. Available in PDF, EPUB and Kindle. Book excerpt: ​Topics in pediatric orthopedics routinely surface in general pediatrics and primary care, whether on board exams or in clinical practice. From birth injuries to musculoskeletal infections, there are many conditions and presenting complaints that must be addressed by the primary care physician or pediatrician. This concise and targeted handbook contains just the need to know conditions, injuries, and diseases necessary for residents and even seasoned clinicians to brush up on pediatric orthopedic topics with ease. Information is contained within themed chapters (like neuromuscular diseases or musculoskeletal infections) and also by anatomical region (hip, knee foot, spine, etc.). This book gives readers the basic knowledge to be able to identify common orthopedic conditions, indications to either treat these conditions or refer patient to an orthopedist, and covers the entire required curriculum needed to answer musculoskeletal questions on the pediatrics board exam.

Download or read book Osteoporosis in Men written by Eric S. Orwoll and published by Academic Press. This book was released on 2009-11-30 with total page 764 pages. Available in PDF, EPUB and Kindle. Book excerpt: Since the publication of the first edition, the U.S. Surgeon General released the first-ever report on bone health and osteoporosis in October 2004. This report focuses even more attention on the devastating impact osteoporosis has on millions of lives. According to the National Osteoporosis Foundation, 2 million American men have osteoporosis, and another 12 million are at risk for this disease. Yet despite the large number of men affected, the lack of awareness by doctors and their patients puts men at a higher risk that the condition may go undiagnosed and untreated. It is estimated that one-fifth to one-third of all hip fractures occur in men. This second edition brings on board John Bilezikian and Dirk Vanderschueren as editors with Eric Orwoll. The table of contents is more than doubling with 58 planned chapters. The format is larger – 8.5 x 11. This edition of Osteoporosis in Men brings together even more eminent investigators and clinicians to interpret developments in this growing field, and describe state-of-the-art research as well as practical approaches to diagnosis, prevention and therapy. Brings together more eminent investigators and clinicians to interpret developments in this growing field Describes state-of-the-art research as well as practical approaches to diagnosis, prevention and therapy There is no book on the market that covers osteoporosis in men as comprehensively as this book

Download or read book Genetics Home Reference written by National Institutes National Institutes of Health and published by Createspace Independent Publishing Platform. This book was released on 2014-11-04 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Complete handbook on cells and DNA including genes and chromosomes. Also includes indepth look at how genes work, mutations and health, inheriting genetic conditions, genetic consultation, genetic testing, gene therapy, the human genome project and complete genomic research.

Download or read book Mineralized Tissues in Oral and Craniofacial Science written by Laurie K. McCauley and published by John Wiley & Sons. This book was released on 2012-06-05 with total page 391 pages. Available in PDF, EPUB and Kindle. Book excerpt: Mineralized Tissues in Oral and Craniofacial Science is a major comprehensive update on knowledge in the field of mineralized tissues in the oral and craniofacial region. Drs. McCauley and Somerman assembled an international team of researchers and clinicians, offering a global perspective on the current knowledge in this field. Basic and clinical correlates reinforce the significance of research to clinical diagnoses and therapies, written in a manner that lends easily to their use for case study teaching venues. Section 1 features the many aspects of bone in the craniofacial region, including embryology, cell biology, and stem cell biology. Section 2 focuses on teeth-tooth development, dentin, enamel, cementum, and tooth regeneration. Section 3 discusses the interaction between bones and teeth, including those associated with inflammatory processes, periodontal ligaments, biomechanics, and other impact factors-such as nutrition, metabolic bone diseases and therapeutic modalities. The novel approach of linking the basic principles of the cell and molecular biology of hard tissues to clinical correlates will appeal to readers at all levels of their research careers, both students and faculty; faculty interested in a comprehensive text for reference; and clinicians interested in the biologic aspects of bones and teeth.

Download or read book General Orthopaedics and Basic Science written by Nikolaos K. Paschos and published by Springer. This book was released on 2019-03-04 with total page 189 pages. Available in PDF, EPUB and Kindle. Book excerpt: This volume of the Orthopaedic Study Guide Series provides the foundation of general orthopedic and basic science. Chapters of this book cohere around three aspects of the musculoskeletal system, anatomy, physiology, and pathology. Next to basic principles, case reports underline key information relating to disorders, diagnosis, and treatment options. Written by leading experts, this volume is a concise guide designed as quick reference, thereby it presents a useful resource for orthopedic residents and fellows.