What Are Heritable Disorders Of Connective Tissue

Author : Peter M. Royce,Beat Steinmann
Publisher : John Wiley & Sons
Page : 1201 pages
File Size : 48,7 Mb
Release : 2003-04-14
Category : Medical
ISBN : 9780471461173

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Connective Tissue and Its Heritable Disorders by Peter M. Royce,Beat Steinmann Pdf

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,National Academies Of Sciences Engineeri,Health and Medicine Division,Board on Health Care Services,Committee on Selected Heritable Disorders of Connective Tissue and Disability
Publisher : Unknown
Page : 0 pages
File Size : 44,6 Mb
Release : 2023-01-08
Category : Medical
ISBN : 0309275539

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Selected Heritable Disorders of Connective Tissue and Disability by National Academies of Sciences, Engineering, and Medicine,National Academies Of Sciences Engineeri,Health and Medicine Division,Board on Health Care Services,Committee on Selected Heritable Disorders of Connective Tissue and Disability Pdf

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.

Author : Victor Almon McKusick
Publisher : Unknown
Page : 906 pages
File Size : 44,8 Mb
Release : 1972
Category : Medical
ISBN : UCAL:B3767681

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Heritable Disorders of Connective Tissue by Victor Almon McKusick Pdf

Author : Jaroslava Halper
Publisher : Springer Science & Business Media
Page : 246 pages
File Size : 41,8 Mb
Release : 2014-01-18
Category : Medical
ISBN : 9789400778931

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Progress in Heritable Soft Connective Tissue Diseases by Jaroslava Halper Pdf

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 : Peter Beighton
Publisher : Unknown
Page : 216 pages
File Size : 40,5 Mb
Release : 1970
Category : Ehlers-Danlos syndrome
ISBN : UOM:39015010651605

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The Ehlers-Danlos Syndrome by Peter Beighton Pdf

Ehlers-Danlos Syndrom.

Author : Victor A. McKusick
Publisher : Unknown
Page : 534 pages
File Size : 50,6 Mb
Release : 2003-01-01
Category : Electronic
ISBN : 0758179960

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Heritable Disorders of Connective Tissue by Victor A. McKusick Pdf

Author : John C. Carey,Suzanne B. Cassidy,Agatino Battaglia,David Viskochil
Publisher : John Wiley & Sons
Page : 1104 pages
File Size : 40,5 Mb
Release : 2021-01-27
Category : Science
ISBN : 9781119432678

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Cassidy and Allanson's Management of Genetic Syndromes by John C. Carey,Suzanne B. Cassidy,Agatino Battaglia,David Viskochil Pdf

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 : Anonim
Publisher : Unknown
Page : 128 pages
File Size : 41,5 Mb
Release : 2007
Category : Electronic
ISBN : OCLC:1239392904

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What are Heritable Disorders of Connective Tissue?. by Anonim Pdf

Author : Victor Almon McKusick
Publisher : Unknown
Page : 344 pages
File Size : 42,6 Mb
Release : 1960
Category : Collagen diseases
ISBN : UOM:39015003243733

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Heritable Disorders of Connective Tissue by Victor Almon McKusick Pdf

Author : Olaf H. Stanger,John R. Pepper,Lars G. Svensson
Publisher : Springer
Page : 1223 pages
File Size : 48,5 Mb
Release : 2019-04-15
Category : Medical
ISBN : 9783709148747

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Surgical Management of Aortic Pathology by Olaf H. Stanger,John R. Pepper,Lars G. Svensson Pdf

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.

Author : Peter Beighton
Publisher : Unknown
Page : 784 pages
File Size : 55,6 Mb
Release : 1993
Category : Medical
ISBN : UOM:39015029197384

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McKusick's Heritable Disorders of Connective Tissue by Peter Beighton Pdf

Author : Shweta Dhar,Sandesh Sreenath Chakravarthy Nagamani,Tanya Eble
Publisher : Academic Press
Page : 530 pages
File Size : 48,9 Mb
Release : 2020-04-10
Category : Science
ISBN : 9780128173459

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Handbook of Clinical Adult Genetics and Genomics by Shweta Dhar,Sandesh Sreenath Chakravarthy Nagamani,Tanya Eble Pdf

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

Author : Marina Colombi ,Marco Ritelli
Publisher : MDPI
Page : 218 pages
File Size : 49,7 Mb
Release : 2020-12-14
Category : Science
ISBN : 9783039363223

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Molecular Genetics and Pathogenesis of Ehlers–Danlos Syndrome and Related Connective Tissue Disorders by Marina Colombi ,Marco Ritelli Pdf

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 : Alan J Hakim,Rosemary J. Keer,Rodney Grahame
Publisher : Elsevier Health Sciences
Page : 336 pages
File Size : 50,6 Mb
Release : 2010-09-15
Category : Medical
ISBN : 9780702049934

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Hypermobility, Fibromyalgia and Chronic Pain E-Book by Alan J Hakim,Rosemary J. Keer,Rodney Grahame Pdf

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,L.J.M. Cornelissens,M.C. Veenhuizen
Publisher : IOS Press
Page : 370 pages
File Size : 49,7 Mb
Release : 2018-08-14
Category : Medical
ISBN : 9781614998785

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Ehlers-Danlos Syndrome: A Multidisciplinary Approach by J.W.G. Jacobs,L.J.M. Cornelissens,M.C. Veenhuizen Pdf

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.