Orthopaedic Problems in Inherited Skeletal Disorders PDF Download

Author: Frank Horan
Publisher: Springer Verlag
ISBN: 9780387113111
Category : Bones
Languages : en
Pages : 142

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Book Description

Author: F. Horan
Publisher: Springer
ISBN: 9781447113287
Category : Medical
Languages : en
Pages : 144

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Book Description
Inherited skeletal disorders have a fascination for many medical and surgical disciplines. For the geneticist there is interest in the study of families and their inheritance of lesions. The paediatrician is concerned because most of the disorders present in childhood as a problem in clinical differential diagnosis. The radiologist is interested because of the manifest, multiple and curious bone changes that provide a challenge in diagnosis and classification. The orthopaedic surgeon is involved because they present a challenge in the management of the many and various lesions of the limbs and trunk. Most of the text books are slanted towards one or other aspect of the subject, depending upon the specialist interests of their author. Though informative to colleagues in their own discipline, the information which they contain is liable to be overwhelming in its complexity or unhelpful in its content for the orthopaedic surgeon or trainee. Frank Horan and Peter Beighton have aimed their admirable and concise monograph to help the orthopaedic surgeon-the one individual who is likely to be able to ameliorate the musculo-skeletal problems from which so many of the children and adults with these diseases suffer. In recent years, much more orthopaedic help has become available for dysplastics.

Author: Edward F. McCarthy
Publisher: Cambridge University Press
ISBN: 1107041236
Category : Medical
Languages : en
Pages : 385

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Book Description
Fully updated new edition covering all aspects of bone and joint diseases in one easily readable volume. Color illustrations throughout.

Author: National Academies of Sciences, Engineering, and Medicine
Publisher: National Academies Press
ISBN: 0309670950
Category : Medical
Languages : en
Pages : 319

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Book Description
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.

Author: F. Horan
Publisher: Springer Science & Business Media
ISBN: 1447113268
Category : Medical
Languages : en
Pages : 256

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Book Description
Inherited skeletal disorders have a fascination for many medical and surgical disciplines. For the geneticist there is interest in the study of families and their inheritance of lesions. The paediatrician is concerned because most of the disorders present in childhood as a problem in clinical differential diagnosis. The radiologist is interested because of the manifest, multiple and curious bone changes that provide a challenge in diagnosis and classification. The orthopaedic surgeon is involved because they present a challenge in the management of the many and various lesions of the limbs and trunk. Most of the text books are slanted towards one or other aspect of the subject, depending upon the specialist interests of their author. Though informative to colleagues in their own discipline, the information which they contain is liable to be overwhelming in its complexity or unhelpful in its content for the orthopaedic surgeon or trainee. Frank Horan and Peter Beighton have aimed their admirable and concise monograph to help the orthopaedic surgeon-the one individual who is likely to be able to ameliorate the musculo-skeletal problems from which so many of the children and adults with these diseases suffer. In recent years, much more orthopaedic help has become available for dysplastics.

Author: Jürgen W. Spranger
Publisher: Oxford University Press, USA
ISBN: 0190626658
Category : Medical
Languages : en
Pages : 929

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Book Description
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.

Author: Carol A. Wise
Publisher: Springer
ISBN: 149392169X
Category : Medical
Languages : en
Pages : 173

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Book Description
In the past two decades we have seen a surge forward in understanding the genetics and biochemistry underlying many pediatric orthopaedic disorders. A few projects have even progressed into the realm of clinical trials that are primarily aimed at controlling progressive disease. Meanwhile, genomic technology development has outpaced expectations and is enabling gene discovery for disorders that were previously intractable with traditional genetic methods. Included in this latter category are common disorders that display multigenic inheritance, sporadic disorders, and very rare conditions that are difficult to ascertain. Simultaneously, the study of pediatric orthopaedic disorders has been continuously refined and updated, highlighting a number of likely genetic conditions that are as yet unsolved. Molecular Genetics of Pediatric Orthopaedic Disorders updates researchers and clinicians of new developments of pediatric orthopaedic genetics. The chapters inform the audience on the revolution in new genomic methods and the impact this is having on potential study designs and the potential to discover genetic causes of many unsolved orthopaedic conditions. Recent examples have been included of pediatric orthopaedic conditions, both rare and common, that are being solved with these new methods. The book also educates pediatric orthopedic clinicians and geneticists on our understanding of the biology of “classic” genetic diseases that were derived from prior genetic studies. Chapters include biobanks and strategies for studying very rare disorders, genes and pathways causing primordial dwarfism, and notch signaling in congenital scoliosis, and more.​

Author: Roger K. W. Smith
Publisher: Elsevier
ISBN: 1483163644
Category : Health & Fitness
Languages : en
Pages : 306

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Book Description
Biochemical Disorders of the Skeleton explores the biochemical and clinical aspects of skeletal disorders, including osteoporosis, osteomalacia, Paget's disease of bone, osteogenesis imperfecta, and Marfan's syndrome. Homocystinuria, Ehlers-Danlos syndrome, mucopolysaccharidoses, hyperphosphatasia and hypophosphatasia, and fibrous dysplasia are also considered. Comprised of 12 chapters, this book begins with an overview of the physiology of bone, with emphasis on the structures produced by bone cells and the different hormones that influence them. The symptoms, signs, and investigation of metabolic bone disease are then described and compared. The following chapters focus on the biochemistry and clinical aspects of disorders affecting the skeleton, from osteoporosis and osteomalacia to Ehlers-Danlos syndrome, fibrous dysplasia, osteopetroses and hyperostoses, and fibrogenesis imperfecta ossium. The final chapter offers a short description of advances that have been made in understanding these biochemical disorders, including the significance of low-plasma calcitonin in women; the role of mithramycin in Paget's disease; and the identification of the different types of osteogenesis imperfecta. This monograph will be a valuable resource for physicians, pediatricians, and orthopedic surgeons.

Author: Peter Beighton
Publisher:
ISBN:
Category : Science
Languages : en
Pages : 288

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Author: Amr Abdelgawad
Publisher: Springer Science & Business Media
ISBN: 1461471265
Category : Medical
Languages : en
Pages : 589

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Book Description
​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.