Connective Tissue and Its Heritable Disorders


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.




Ehlers-Danlos Syndrome: A Multidisciplinary Approach


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.







Victor McKusick and the History of Medical Genetics


Book Description

This book is being planned as a tribute to Dr. Victor A. McKusick (1921-2008), who is well known as the “father of medical genetics”. He was long associated with the Johns Hopkins University School of Medicine, first as a student in the 1940s, and later as a faculty member, becoming the Chairman of the Department of Medicine at Johns Hopkins. He was a co-founder of GENOMICS and founder and lifelong editor of Mendelian Inheritance in Man, a massive compendium of human syndromes and genetic variants. Dr. McKusick made distinguished contributions to all branches of medical genetics. He was a member of the U.S. National Academy of Sciences and many other academies in the world. He was awarded the National Medal of Science in 2002. He received many other honors including several honorary doctorates. The proposed book will reflect all the fields touched upon by Dr. McKusick’s contributions. It will be a valuable source of the latest progress in medical genetics. The contributors are internationally distinguished in their chosen specialties. Besides professional distinction, they are being selected because of their past association with Dr. McKusick, as former students or colleagues who extended his research in some fashion. The proposed book will reflect all the fields touched upon by Dr. McKusick’s contributions. It will be a valuable source of the latest progress in medical genetics. The contributors are internationally distinguished in their chosen specialties. Besides professional distinction, they are being selected because of their past association with Dr. McKusick, as former students or colleagues who extended his research in some fashion.







The Netter Collection of Medical Illustrations: Musculoskeletal System, Volume 6, Part III - Biology and Systemic Diseases


Book Description

Basic Science and Systemic Disease, Part 3 of The Netter Collection of Medical Illustrations: Musculoskeletal System, 2nd Edition, provides a highly visual guide to this body system, from foundational basic science and anatomy to orthopaedics and rheumatology. This spectacularly illustrated volume in the masterwork known as the (CIBA) "Green Books" has been expanded and revised by Dr. Joseph Iannotti, Dr. Richard Parker, and other experts from the Cleveland Clinic to mirror the many exciting advances in musculoskeletal medicine and imaging - offering rich insights into embryology; physiology; metabolic disorders; congenital and development disorders; rheumatic diseases; tumors of musculoskeletal system; injury to musculoskeletal system; soft tissue infections; and fracture complications. Get complete, integrated visual guidance on the musculoskeletal system with thorough, richly illustrated coverage. Quickly understand complex topics thanks to a concise text-atlas format that provides a context bridge between primary and specialized medicine. Clearly visualize how core concepts of anatomy, physiology, and other basic sciences correlate across disciplines. Benefit from matchless Netter illustrations that offer precision, clarity, detail and realism as they provide a visual approach to the clinical presentation and care of the patient. Gain a rich clinical view of embryology; physiology; metabolic disorders; congenital and development disorders; rheumatic diseases; tumors of musculoskeletal system; injury to musculoskeletal system; soft tissue infections; and fracture complications in one comprehensive volume, conveyed through beautiful illustrations as well as up-to-date radiologic and laparoscopic images. Benefit from the expertise of Drs. Joseph Iannotti, Richard Parker, and esteemed colleagues from the Cleveland Clinic, who clarify and expand on the illustrated concepts. Clearly see the connection between basic science and clinical practice with an integrated overview of normal structure and function as it relates to pathologic conditions. See current clinical concepts in orthopaedics and rheumatology captured in classic Netter illustrations, as well as new illustrations created specifically for this volume by artist-physician Carlos Machado, MD, and others working in the Netter style.




Hypermobility in Medical Practice


Book Description

This book provides a clear and concise guide to hypermobility in medicine and physiotherapy. Each chapter is written with a uniform style, including illustrations highlighting the clinical characteristics of manifestations related to hypermobility. Key topics are comprehensively covered throughout the book in the context of both medicine and physiotherapy. This book offers supportive information for practitioners who are seeking as single resource on the topic. Medical professionals, physiotherapists, physical educators, psychologists, nutritionists, occupational therapists, psychomotor therapists, and postgraduate students will find this book to be an essential guide in their daily clinical practice and research in the field.




The Netter Collection of Medical Illustrations: Musculoskeletal System, Volume 6, Part III - Musculoskeletal Biology and Systematic Musculoskeletal Disease E-Book


Book Description

Basic Science and Systemic Disease, Part 3 of The Netter Collection of Medical Illustrations: Musculoskeletal System, 2nd Edition, provides a highly visual guide to this body system, from foundational basic science and anatomy to orthopaedics and rheumatology. This spectacularly illustrated volume in the masterwork known as the (CIBA) "Green Books" has been expanded and revised by Dr. Joseph Iannotti, Dr. Richard Parker, and other experts from the Cleveland Clinic to mirror the many exciting advances in musculoskeletal medicine and imaging - offering rich insights into embryology; physiology; metabolic disorders; congenital and development disorders; rheumatic diseases; tumors of musculoskeletal system; injury to musculoskeletal system; soft tissue infections; and fracture complications. - Consult this title on your favorite e-reader with intuitive search tools and adjustable font sizes. Elsevier eBooks provide instant portable access to your entire library, no matter what device you're using or where you're located. - Get complete, integrated visual guidance on the musculoskeletal system with thorough, richly illustrated coverage. - Quickly understand complex topics thanks to a concise text-atlas format that provides a context bridge between primary and specialized medicine. - Clearly visualize how core concepts of anatomy, physiology, and other basic sciences correlate across disciplines. - Benefit from matchless Netter illustrations that offer precision, clarity, detail and realism as they provide a visual approach to the clinical presentation and care of the patient. - Gain a rich clinical view of embryology; physiology; metabolic disorders; congenital and development disorders; rheumatic diseases; tumors of musculoskeletal system; injury to musculoskeletal system; soft tissue infections; and fracture complications in one comprehensive volume, conveyed through beautiful illustrations as well as up-to-date radiologic and laparoscopic images. - Benefit from the expertise of Drs. Joseph Iannotti, Richard Parker, and esteemed colleagues from the Cleveland Clinic, who clarify and expand on the illustrated concepts. - Clearly see the connection between basic science and clinical practice with an integrated overview of normal structure and function as it relates to pathologic conditions. - See current clinical concepts in orthopaedics and rheumatology captured in classic Netter illustrations, as well as new illustrations created specifically for this volume by artist-physician Carlos Machado, MD, and others working in the Netter style.




Progress in Heritable Soft Connective Tissue Diseases


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.




Encyclopedia of Gastroenterology


Book Description

Encyclopedia of Gastroenterology, Second Edition provides a comprehensive and concise reference on all aspects of gastroenterology and hepatology, including the organs in the gastrointestinal system, their functions in health and disease, and strategies or procedures to resolve or prevent problems and disease. This concise, up-to-date information includes comprehensive sections on the impact of nutrition, gastrointestinal microbiota, lifestyle, commonly used drugs, and surgical procedures on health and disease. Since the first edition, attention to the roles of nutrition and gastrointestinal microorganisms (microbiota, formerly Microbiota) in health and disease has skyrocketed. In addition, an entirely new section on obesity and diabetes is included. Presents comprehensive coverage of every topic within gastroenterology Offers researchers a one-stop, fully-referenced resource to explore questions Includes teaching tools, multimedia and interactive elements Provides readers with multi-layered content and a media-rich learning resource for both instructors and students Covers hot new topics in GI health and disease, including new sections on stem cells, intestinal bacteria, obesity and intestinal microbiota