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Heritable Disorders Of Connective Tissue
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Book Synopsis Connective Tissue and Its Heritable Disorders by : Peter M. Royce
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.
Author :National Academies of Sciences, Engineering, and Medicine Publisher : ISBN 13 :9780309275538 Total Pages :0 pages Book Rating :4.2/5 (755 download)
Book Synopsis Selected Heritable Disorders of Connective Tissue and Disability by : National Academies of Sciences, Engineering, and Medicine
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.
Book Synopsis Heritable Disorders of Connective Tissue by : Victor A. McKusick
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:
Book Synopsis The Ehlers-Danlos Syndrome by : Peter Beighton
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.
Book Synopsis Heritable Disorders of Connective Tissue by : Victor Almon McKusick
Download or read book Heritable Disorders of Connective Tissue written by Victor Almon McKusick and published by . This book was released on 1972 with total page 906 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Book Synopsis What are Heritable Disorders of Connective Tissue?. by :
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:
Book Synopsis Molecular Genetics and Pathogenesis of Ehlers–Danlos Syndrome and Related Connective Tissue Disorders by : Marina Colombi
Download or read book Molecular Genetics and Pathogenesis of Ehlers–Danlos Syndrome and Related Connective Tissue Disorders written by Marina Colombi and published by MDPI. This book was released on 2020-12-14 with total page 218 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Book Synopsis Progress in Heritable Soft Connective Tissue Diseases by : Jaroslava Halper
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 245 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.
Book Synopsis McKusick's Heritable Disorders of Connective Tissue by : Peter Beighton
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:
Book Synopsis Cassidy and Allanson's Management of Genetic Syndromes by : John C. Carey
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.
Book Synopsis Heritable Disorders of Connective Tissue by : Victor Almon McKusick
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:
Book Synopsis Handbook of Clinical Adult Genetics and Genomics by : Shweta Dhar
Download or read book Handbook of Clinical Adult Genetics and Genomics written by Shweta Dhar and published by Academic Press. This book was released on 2020-04-10 with total page 530 pages. Available in PDF, EPUB and Kindle. Book excerpt: Handbook of Clinical Adult Genetics and Genomics: A Practice-Based Approach provides a thorough overview of genetic disorders that are commonly encountered in adult populations and supports the full translation of adult genetic and genomic modalities into clinical practice. Expert chapter authors supplement foundational knowledge with case-based strategies for the evaluation and management of genetic disorders in each organ system and specialty area. Topics discussed include employing genetic testing technologies, reporting test results, genetic counseling for adult patients, medical genetics referrals, issues of complex inheritance, gene therapy, and diagnostic and treatment criteria for developmental, cardiovascular, gastrointestinal, neuropsychiatric, pulmonary issues, and much more. Employs clinical case studies to demonstrate how to evaluate, diagnosis and treat adult patients with genetic disorders Offers a practical framework for establishing an adult genetics clinic, addressing infrastructure, billing, counseling, and challenges unique to adult clinical genetics Features chapter contributions from authors at leading adult genetics institutions in the US and abroad
Book Synopsis Ehlers-Danlos Syndrome: A Multidisciplinary Approach by : J.W.G. Jacobs
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.
Download or read book Connective tissue written by and published by . This book was released on 2011 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt:
Book Synopsis Hypermobility, Fibromyalgia and Chronic Pain E-Book by : Alan J Hakim
Download or read book Hypermobility, Fibromyalgia and Chronic Pain E-Book written by Alan J Hakim and published by Elsevier Health Sciences. This book was released on 2010-09-15 with total page 336 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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
Book Synopsis Color Atlas of Inherited Connective Tissue Disorders by : F. Michael Pope
Download or read book Color Atlas of Inherited Connective Tissue Disorders written by F. Michael Pope and published by Mosby. This book was released on 1995 with total page 166 pages. Available in PDF, EPUB and Kindle. Book excerpt: Presenting a collection of clinical and biological material including clinical photographs and X-rays, this atlas covers the history, genetics, essential physical signs and classification of inherited connective tissue disorders.
Download or read book Aortopathy written by Koichiro Niwa and published by Springer. This book was released on 2017-02-09 with total page 333 pages. Available in PDF, EPUB and Kindle. Book excerpt: This is the first textbook to focus on Aortopathy, a new clinical concept for a form of vasculopathy. The first section of the book starts from discussing general concept and history of Aortopathy, and then deals with its pathophysiology, manifestation, intrinsic factor, clinical implication, management and prevention. The second part closely looks at various disorders of the Aortopathy such as bicuspid aortic valve and coarctation of aorta. The book editors have published a lot of works on the topic and have been collecting relating data in the field of congenital heart disease for the past 20 years, thus present the book with confidence. The topic - an association of aortic pathophysiological abnormality, aortic dilation and aorto-left ventricular interaction - is getting more and more attention among cardiovascular physicians. This is the first book to refer for cardiologists, pediatric cardiologists, surgeons, ACHD specialists, etc. to acquire thorough knowledge on Aortopathy.
