Connective Tissue and Its Heritable Disorders

Connective Tissue and Its Heritable Disorders PDF Author: Peter M. Royce
Publisher: John Wiley & Sons
ISBN: 0471461172
Category : Medical
Languages : de
Pages : 1201

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Book Description
The Second Edition of Connective Tissue and Its Heritable Disorders: Molecular, Genetic, and Medical Aspects is the definitive reference text in its field, with over 40% more pages on the nature, diagnosis, and treatment of disease than its predecessor. Collecting new research on disorders detailed in the first edition as well as on those previously excluded, editors Peter Royce and Beat Steinmann provide the most up-to-date clinical and scientific information for medical specialists treating affected individuals. Features of this revised and updated volume include detailed reviews of the clinical diagnosis, mode of inheritance, risk of recurrence, and prenatal diagnosis of each inherited connective tissue disorder; a thorough description of the morphology of connective tissues; a completely updated and revised section on the biology of the extracellular matrix; and the addition of syndromes such as craniosyntosis, and disorders of sulfate metabolism.

Connective Tissue and Its Heritable Disorders

Connective Tissue and Its Heritable Disorders PDF Author: Peter M. Royce
Publisher: John Wiley & Sons
ISBN: 0471461172
Category : Medical
Languages : de
Pages : 1201

Get Book Here

Book Description
The Second Edition of Connective Tissue and Its Heritable Disorders: Molecular, Genetic, and Medical Aspects is the definitive reference text in its field, with over 40% more pages on the nature, diagnosis, and treatment of disease than its predecessor. Collecting new research on disorders detailed in the first edition as well as on those previously excluded, editors Peter Royce and Beat Steinmann provide the most up-to-date clinical and scientific information for medical specialists treating affected individuals. Features of this revised and updated volume include detailed reviews of the clinical diagnosis, mode of inheritance, risk of recurrence, and prenatal diagnosis of each inherited connective tissue disorder; a thorough description of the morphology of connective tissues; a completely updated and revised section on the biology of the extracellular matrix; and the addition of syndromes such as craniosyntosis, and disorders of sulfate metabolism.

The Ehlers-Danlos Syndrome

The Ehlers-Danlos Syndrome PDF Author: Peter Beighton
Publisher:
ISBN:
Category : Medical
Languages : en
Pages : 216

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Book Description
Ehlers-Danlos Syndrom.

Cassidy and Allanson's Management of Genetic Syndromes

Cassidy and Allanson's Management of Genetic Syndromes PDF Author: John C. Carey
Publisher: John Wiley & Sons
ISBN: 1119432677
Category : Science
Languages : en
Pages : 1104

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Book Description
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.

Progress in Heritable Soft Connective Tissue Diseases

Progress in Heritable Soft Connective Tissue Diseases PDF Author: Jaroslava Halper
Publisher: Springer Science & Business Media
ISBN: 9400778937
Category : Medical
Languages : en
Pages : 246

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Book Description
This volume is a reference handbook focusing on diseases like Marfan syndrome, Ehlers-Danlos syndrome, Loeys-Dietz syndrome and other heritable soft connective tissue diseases. The book presents detailed information for both basic scientists and for clinicians seeing patients. It is also a stepping stone for new investigations and studies that goes beyond the facts about the composition and biochemistry of the connective tissue and extracellular matrix, as the authors connect individual components to specific aspects of various soft tissue disorders and to the actual or potential treatment of them. Progress in Heritable Soft Connective Tissue Diseases features very prominent physicians and scientists as contributors who bring their most recent discoveries to the benefit of readers. Their expertise will help clinicians with proper diagnosis of sometimes elusive and uncommon heritable diseases of soft connective tissues. This book also offers an update on the pathophysiology of these diseases, including an emphasis on unifying aspects such as connections between embryonic development of the different types of connective tissues and systems, and the role of TGF-beta in development and physiology of soft tissues. This new set of data explains, at least in part, why many of these disorders are interconnected, though the primary pathophysiological events, such as gene mutations, may be different for each disorder.

Hypermobility, Fibromyalgia and Chronic Pain

Hypermobility, Fibromyalgia and Chronic Pain PDF Author: Alan J Hakim
Publisher: Elsevier Health Sciences
ISBN: 070204993X
Category : Medical
Languages : en
Pages : 333

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Book Description
This groundbreaking new text explains and documents the scientific basis of chronic pain in Joint Hypermobility Syndrome (JHS) and other heritable disorders of connective tissue from the physiological, epidemiological, genetic and clinical viewpoints. It asks the reader to consider the possibility of JHS, identify it clinically, understand its co-morbidities, including interdependencies with Fibromyalgia and Chronic Fatigue Syndrome, while managing the condition appropriately. Hypermobility, Fibromyalgia and Chronic Pain takes a multi-specialty and multidisciplinary approach to understanding JHS and its management, drawing together expertise from a broad group of internationally-recognized authors. The book is split into two sections. Section 1 deals with the clinical manifestations of JHS and Fibromyalgia, their epidemiology and pathophysiology. Section 2 covers clinical management. Here the reader will find chapters covering pharmacotherapeutics, psychotherapy and physical therapies that address the needs of patients from childhood to adulthood. It is hoped that Hypermobility, Fibromyalgia and Chronic Pain will advance knowledge of therapies and provoke further research while stimulating interest and encouraging debate. - Comprehensively relates practical therapy to the nature of the underlying pathology - Covers in one single text both the scientific and practical management aspect of Joint Hypermobility Syndrome and its allied pathologies - Contributions from over 30 leading international experts - Multidisciplinary approach will support all health professionals working in this field

Connective Tissue Disease

Connective Tissue Disease PDF Author: Jouni Uitto
Publisher: CRC Press
ISBN: 1000447227
Category : Science
Languages : en
Pages : 576

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Book Description
This book is a collection of works that canvass many of the recent developments in various areas of connective tissue research. It focuses on the structure of the components, molecular organization and pathology of the extracellular matrix.

Aneurysms of the Popliteal Artery

Aneurysms of the Popliteal Artery PDF Author: Antonino Cavallaro
Publisher: Springer Nature
ISBN: 3030496872
Category : Medical
Languages : en
Pages : 374

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Book Description
Popliteal aneurysms are still controversial in terms of their pathogenesis, and challenging in terms of their treatment. This book offers a detailed overview of the latest advances in our understanding of the disease, and highlights the latest theories. Divided into eght sections, it focuses on: the historical background, embryology and anatomy of the popliteal artery, clinical presentation and diagnosis, pros and cons of traditional surgical techniques, pros and cons of advanced endovascuar techniques. The last section focuses on non-atherosclerotic popliteal aneurysme, i.e. on diseases in which popliteal aneurysms may specifically appear, rendering more challenging the diagnosis and the treatment As stressed in the foreword by the Chief Editor of the Journal of Vascuar Surgery, this book, given its scope, offers a valuable guide for all health professionals - experts and in training -.involved in vascular pathology and surgery.

Hypermobility Syndrome

Hypermobility Syndrome PDF Author: Rosemary Keer
Publisher: Butterworth-Heinemann
ISBN: 9780750653909
Category : Medical
Languages : en
Pages : 176

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Book Description
Discusses the implications of generalised joint hypermobility and helps the reader to recognise and identify when the hypermobility syndrome is present. It goes on to describe in detail the assessment and management of the syndrome from children through to adults, and it includes sections on relevant ergonomics, rehabilitation and fitness. Also included is information on where the hypermobility syndrome fits in with other connective tissue disorders.

Biochemistry and Cell Biology of Ageing: Part II Clinical Science

Biochemistry and Cell Biology of Ageing: Part II Clinical Science PDF Author: J. Robin Harris
Publisher: Springer
ISBN: 9811336814
Category : Medical
Languages : en
Pages : 502

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Book Description
This volume of the subcellular Biochemistry series will attempt to bridge the gap between the subcellular events that are related to aging as they were described in the first volume of this set of two books and the reality of aging as this is seen in clinical practice. All chapters will start from the biochemistry or cell biology, where the data is available and work up towards the understanding that we have of aging in the various areas that are related to the subject. Key focus points for this volume are nutrition, external factors and genetics on aging. There will also be chapters that will focus on various organs or tissues in which aging has been well studied, like the eyes, the muscles, the immune system and the bones. The aim of the book project and the book project that is published in concert with this volume is to bring the subcellular and clinical areas into closer contact.

Biochemistry of Collagen

Biochemistry of Collagen PDF Author: Gopalasamudram Ramachandran
Publisher: Springer Science & Business Media
ISBN: 1475746024
Category : Science
Languages : en
Pages : 546

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Book Description
Collagen is a fascinating protein not only because of its ubiquitous occurrence in multicellular animals, but also because of its unique chemi cal structure. As the predominant constituent in bone, cartilage, skin, tendon, and tooth, it is not surprising that collagen is of interest to anatomists, biochemists, biomedical engineers, cell biologists, dermatolo gists, dental surgeons, leather chemists, orthopedic surgeons, physiologists, physicians, zoologists, and a host of others. This book was planned to provide an up-to-date comprehensive survey of all aspects of biochemistry of collagen. The recent discovery of genetically distinct collagens with tissue specificity has opened a new era in collagen biochemistry, and Karl Piez discusses this in the opening chapter on primary structure. In the next chapter, Ramachandran and Rama krishnan deal with the molecular structure of collagen, placing special emphasis on the conformational aspects of its polypeptide chains. Follow ing the consideration of primary and secondary structure of collagen, the three-dimensional arrangement of collagen molecules in the fibrils is covered by Miller in Chapter 3. Collagen is generally in the insoluble state in the living organism due to the cross-linking of individual molecules, and Tanzer describes the various aspects of this cross-linkage in Chapter 4. The biosynthesis of collagen is discussed in depth by Prockop and his colleagues.