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Selected Heritable Disorders of Connective Tissue and Disability

Selected Heritable Disorders of Connective Tissue and Disability
Author: National Academies of Sciences, Engineering, and Medicine
Publisher:
Total Pages: 0
Release: 2023-01-08
Genre: Medical
ISBN: 9780309275538

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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.


Connective Tissue and Its Heritable Disorders

Connective Tissue and Its Heritable Disorders
Author: Peter M. Royce
Publisher:
Total Pages: 720
Release: 1993
Genre: Medical
ISBN:

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Synthesizes a wealth of new information in the areas of biochemistry, genetics and molecular biology. Contains clear,well-organized material regarding advances in the study of heritable disorders of connective tissue, describing breakthroughs in the last ten years which, until now, have not been published.


Symptomatic

Symptomatic
Author: Clair A. Francomano
Publisher: Elsevier
Total Pages: 662
Release: 2023-12-15
Genre: Science
ISBN: 0323950833

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Symptomatic: The Symptom-Based Handbook for Ehlers-Danlos Syndromes and Hypermobility Spectrum Disorders offers a novel approach structured around the panoply of 75 symptoms with which a person with Ehlers-Danlos syndromes (EDS) and hypermobility spectrum disorders (HSD) may present to a clinician. The content is arranged intuitively from head to feet, with each chapter integrating clinical case studies with a concise discussion and two important diagnostic tools: a simplified algorithm for diagnosing and treating each symptom and differential diagnoses and alternative explanations for their symptoms. This is a handbook that combines the expertise of some 70 leading clinicians, representing more than 30 specialties. This book is suited for clinicians who need a concise and straight-forward presentation of the various and complex symptoms they confront in their clinical practice. It brings forth a field of knowledge emerging from interdisciplinary collaboration despite the pressures of specialization that bridges gaps in understanding between the several dozen disciplines implicated in EDS and HSD. • A comprehensive compendium of the symptoms of EDS and HSD to aid clinicians and patients • Symptom-based chapters for ease of making a diagnosis • A case report, differential diagnosis, discussion, and diagnostic and treatment algorithm for each symptom


Progress in Heritable Soft Connective Tissue Diseases

Progress in Heritable Soft Connective Tissue Diseases
Author: Jaroslava Halper
Publisher: Springer
Total Pages: 0
Release: 2016-09-18
Genre: Medical
ISBN: 9789402407747

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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.


Color Atlas of Inherited Connective Tissue Disorders

Color Atlas of Inherited Connective Tissue Disorders
Author: F. Michael Pope
Publisher: Mosby
Total Pages: 166
Release: 1995
Genre: Medical
ISBN:

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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.


Ehlers-Danlos Syndrome: A Multidisciplinary Approach

Ehlers-Danlos Syndrome: A Multidisciplinary Approach
Author: J.W.G. Jacobs
Publisher: IOS Press
Total Pages: 370
Release: 2018-08-14
Genre: Medical
ISBN: 1614998787

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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.


The Ehlers-Danlos Syndrome

The Ehlers-Danlos Syndrome
Author: Peter Beighton
Publisher:
Total Pages: 216
Release: 1970
Genre: Medical
ISBN:

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Ehlers-Danlos Syndrom.