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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.
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.
Author: Peter Beighton
Publisher:
ISBN:
Category : Medical
Languages : en
Pages : 216
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Book Description
Ehlers-Danlos Syndrom.
Author: Marina Colombi
Publisher: MDPI
ISBN: 3039363220
Category : Science
Languages : en
Pages : 218
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Book Description
Ehlers–Danlos syndromes (EDS) are a group of heritable connective tissue disorders (HCTDs) characterized by a variable degree of skin hyperextensibility, joint hypermobility and tissue fragility. The current EDS classification distinguishes 13 subtypes and 19 different causal genes mainly involved in collagen and extracellular matrix synthesis and maintenance. EDS need to be differentiated from other HCTDs with a variable clinical overlap, including Marfan syndrome and related disorders, some types of skeletal dysplasia and cutis laxa. The clinical recognition of EDS is not always straightforward, and, for a definite diagnosis, molecular testing can be of great assistance, especially in patients with an uncertain phenotype. Currently, the major challenging task in EDS is to unravel the molecular basis of the hypermobile EDS that is the most frequent form, and for which the diagnosis is only clinical in the absence of any definite laboratory test. This EDS subtype, as well as other EDS-reminiscent phenotypes, are currently investigated worldwide to unravel the primary genetic defect and related pathomechanisms. The research articles, case report, and reviews published in the Special Issue entitled “Molecular Genetics and Pathogenesis of Ehlers–Danlos Syndrome and Related Connective Tissue Disorders” focus on different clinical, genetic and molecular aspects of several EDS subtypes and some related disorders, offering novel findings and future research and nosological perspectives.
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.
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.
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.
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.
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.
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
Author: J.W.G. Jacobs
Publisher: IOS Press
ISBN: 1614998787
Category : Medical
Languages : en
Pages : 370
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Book Description
Generalized hypermobility has been known since ancient times, and a clinical description of Ehlers-Danlos syndrome (EDS) is said to have first been recorded by Hippocrates in 400 BC. Hypermobility syndromes occur frequently, but the wide spectrum of possible symptoms, coupled with a relative lack of awareness and recognition, are the reason that they are frequently not recognized, or remain undiagnosed. This book is an international, multidisciplinary guide to hypermobility syndromes, and EDS in particular. It aims to create better awareness of hypermobility syndromes among health professionals, including medical specialists, and to be a guide to the management of such syndromes for patients and practitioners. It is intended for use in daily clinical practice rather than as a reference book for research or the latest developments, and has been written to be understandable for any healthcare worker or educated patient without compromise to the scientific content. The book is organized as follows: chapters on classifications and genetics are followed by chapters on individual types, organ (system) manifestations and complications, and finally ethics and therapeutic strategies, with an appendix on surgery and the precautions which should attend it. A special effort has been made to take account of the perspective of the patient; two of the editors have EDS. The book will be of interest to patients with hypermobility syndromes and their families, as well as to all those healthcare practitioners who may encounter such syndromes in the course of their work.
