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Molecular Genetics and Pathogenesis of Ehlers–Danlos Syndrome and Related Connective Tissue Disorders

2020-12-14 Science
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Release : 2020-12-14
Genre : Science
Kind : eBook
Book Rating : 220/5 ( reviews)

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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 . This book was released on 2020-12-14. 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.

Molecular Genetics and Pathogenesis of Ehlers-Danlos Syndrome and Related Connective Tissue Disorders

2020
Download Molecular Genetics and Pathogenesis of Ehlers-Danlos Syndrome and Related Connective Tissue Disorders PDF Online Free

Author :
Release : 2020
Genre :
Kind : eBook
Book Rating : 230/5 ( reviews)

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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. This book was released on 2020. 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.

The Ehlers-Danlos Syndrome

1970 Medical
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Author :
Release : 1970
Genre : Medical
Kind : eBook
Book Rating : /5 ( reviews)

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Book Synopsis The Ehlers-Danlos Syndrome by : Peter Beighton

Download or read book The Ehlers-Danlos Syndrome written by Peter Beighton. This book was released on 1970. Available in PDF, EPUB and Kindle. Book excerpt: Ehlers-Danlos Syndrom.

Ehlers-Danlos Syndrome: A Multidisciplinary Approach

2018-08-14 Medical
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Release : 2018-08-14
Genre : Medical
Kind : eBook
Book Rating : 787/5 ( reviews)

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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. This book was released on 2018-08-14. 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.

Hypermobility of Joints

2013-03-14 Medical
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Release : 2013-03-14
Genre : Medical
Kind : eBook
Book Rating : 003/5 ( reviews)

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Book Synopsis Hypermobility of Joints by : Rodney Grahame

Download or read book Hypermobility of Joints written by Rodney Grahame. This book was released on 2013-03-14. Available in PDF, EPUB and Kindle. Book excerpt: Joint hypermobility, joint laxity or "double-jointedness" is no longer regarded as just a quaint clinical entity, but has gained recognition as a feature common to a heterogeneous group of generalized hereditary connective tissue disorders. This monograph examines the scientific basis, clinical features and treatment of this syndrome. The second edition has been thoroughly updated, with new contributions to cover in depth three areas in which new scientific advances have been made: biochemistry, genetics, and biomechanics. The case histories make fascinating reading, and the comprehensive coverage of the rarer hereditary disorders provides a valuable reference. From the reviews of the first edition: "This little book deals with a somewhat neglected subject and will prove useful in a number of ways." British Journal of Plastic Surgery #1 "This is a delightful book full of stimulating ideas, by three authors who have pooled their thoughts and the results of their studies." Journal of the Royal Society of Medicine #2

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