Download or read book Connective Tissue and Its Heritable Disorders written by Peter M. Royce and published by John Wiley & Sons. This book was released on 2003-04-14 with total page 1201 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Selected Heritable Disorders of Connective Tissue and Disability written by National Academies of Sciences, Engineering, and Medicine and published by . This book was released on 2023-01-08 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Heritable disorders of connective tissue (HDCTs) are a diverse group of inherited genetic disorders and subtypes. Because connective tissue is found throughout the body, the impairments associated with HDCTs manifest in multiple body systems and may change or vary in severity throughout an affected individual's lifetime. In some cases, these impairments may be severe enough to qualify an eligible child or adult for monetary benefits through the U.S. Social Security Administration's (SSA's) Social Security Disability Insurance or Supplemental Security Income program. SSA asked the National Academies of Sciences, Engineering, and Medicine to convene an expert committee that would provide current information regarding the diagnosis, treatment, and prognosis of selected HDCTs, including Marfan syndrome and the Ehlers-Danlos syndromes, and the effect of the disorders and their treatment on functioning. The resulting report, Selected Heritable Disorders of Connective Tissue and Disability, presents the committee's findings and conclusions.
Download or read book The Ehlers Danlos Syndrome written by Peter Beighton and published by . This book was released on 1970 with total page 216 pages. Available in PDF, EPUB and Kindle. Book excerpt: Ehlers-Danlos Syndrom.
Download or read book Heritable Disorders of Connective Tissue written by Victor A. McKusick and published by . This book was released on 2003-01-01 with total page 534 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Heritable Disorders of Connective Tissue written by Victor Almon McKusick and published by . This book was released on 1960 with total page 344 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book McKusick s Heritable Disorders of Connective Tissue written by Peter Beighton and published by . This book was released on 1993 with total page 784 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Progress in Heritable Soft Connective Tissue Diseases written by Jaroslava Halper and published by Springer Science & Business Media. This book was released on 2014-01-18 with total page 246 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book What are Heritable Disorders of Connective Tissue written by and published by . This book was released on 2007 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Cassidy and Allanson s Management of Genetic Syndromes written by John C. Carey and published by John Wiley & Sons. This book was released on 2021-01-27 with total page 1104 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Heritable Disorders of Connective Tissue Illustrated Second Edition written by Victor Almon McKusick and published by . This book was released on 1960 with total page 333 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Heritable Disorders of Connective Tissue Illustrated written by and published by . This book was released on 1960 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Surgical Management of Aortic Pathology written by Olaf H. Stanger and published by Springer. This book was released on 2019-04-15 with total page 1223 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book follows the concept of perceiving the entire aorta as one functional organ assuming that all individual pathologies and local interventional procedures affect the up- and downstream segments with consequences for complications and disease progression. Thus any preventive or surgical strategy must recognize the aortic disease in its entirety. The book intends to cover the full spectrum of aortic pathologies, mechanisms and functional interplay. The latest available diagnostic tools and options for surgical treatment are presented by the foremost experts in their field in state-of-the-art reviews. The reader is provided with the most current and comprehensive insight into all fundamental and clinical aspects of aortic disease. All chapters are carefully complemented with figures and illustrations.
Download or read book Symposium on Heritable Disorders of Connective Tissue written by Wayne H. Akeson and published by . This book was released on 1982 with total page 380 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Heritable disorders of connective tissue Third edition With illustrations etc written by Victor Almon McKusick and published by . This book was released on 1966 with total page 499 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Hypermobility Syndrome written by Rosemary Keer and published by Butterworth-Heinemann. This book was released on 2003 with total page 176 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Mucksick s Heritable Disorders of Connective Tissue written by Victor Almon Mckusick and published by . This book was released on 1993 with total page 748 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Ehlers Danlos Syndrome A Multidisciplinary Approach written by J.W.G. Jacobs and published by IOS Press. This book was released on 2018-08-14 with total page 370 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
