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Author: Peter M. Royce
Publisher: John Wiley & Sons
ISBN: 0471461172
Category : Medical
Languages : en
Pages : 1201
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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.
Author: Peter M. Royce
Publisher: John Wiley & Sons
ISBN: 0471461172
Category : Medical
Languages : en
Pages : 1201
Get Book
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.
Author: Victor A. McKusick
Publisher:
ISBN: 9780758179968
Category :
Languages : en
Pages : 534
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Book Description
Author: National Academies of Sciences, Engineering, and Medicine
Publisher:
ISBN: 9780309275538
Category : Medical
Languages : en
Pages : 0
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Book Description
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: Jaroslava Halper
Publisher: Springer Science & Business Media
ISBN: 9400778937
Category : Medical
Languages : en
Pages : 245
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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.
Author: Peter Beighton
Publisher:
ISBN:
Category : Ehlers-Danlos syndrome
Languages : en
Pages : 216
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Book Description
Ehlers-Danlos Syndrom.
Author: Victor Almon McKusick
Publisher:
ISBN:
Category : Connective tissues
Languages : en
Pages : 906
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Book Description
Author:
Publisher:
ISBN:
Category :
Languages : en
Pages :
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Book Description
Author: Marina Colombi
Publisher: MDPI
ISBN: 3039363220
Category : Science
Languages : en
Pages : 218
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Book Description
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: Peter Beighton
Publisher:
ISBN:
Category : Medical
Languages : en
Pages : 784
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Book Description
Author: John C. Carey
Publisher: John Wiley & Sons
ISBN: 1119432677
Category : Science
Languages : en
Pages : 1104
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Book Description
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.
