The Ehlers Danlos Syndrome
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| Author | : Peter M. Royce |
| Publisher | : John Wiley & Sons |
| Total Pages | : 1201 |
| Release | : 2003-04-14 |
| Genre | : Medical |
| ISBN | : 0471461172 |
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 | : J.W.G. Jacobs |
| Publisher | : IOS Press |
| Total Pages | : 370 |
| Release | : 2018-08-14 |
| Genre | : Medical |
| ISBN | : 1614998787 |
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.
| Author | : Peter Beighton |
| Publisher | : |
| Total Pages | : 216 |
| Release | : 1970 |
| Genre | : Medical |
| ISBN | : |
| Author | : Fred F. Ferri |
| Publisher | : Elsevier Health Sciences |
| Total Pages | : 4158 |
| Release | : 2020-06-10 |
| Genre | : Medical |
| ISBN | : 0323713343 |
Find fast answers to inform your daily diagnosis and treatment decisions! Ferri’s Clinical Advisor 2021 uses the popular "5 books in 1" format to deliver vast amounts of information in a clinically relevant, user-friendly manner. This bestselling reference has been significantly updated to provide you with easy access to answers on 1,000 common medical conditions, including diseases and disorders, differential diagnoses, clinical algorithms, laboratory tests, and clinical practice guidelines—all carefully reviewed by experts in key clinical fields. Extensive algorithms, along with hundreds of new figures and tables, ensure that you stay current with today's medical practice. Contains significant updates throughout, covering all aspects of current diagnosis and treatment. Features 27 all-new topics including chronic rhinosinusitis, subclinical brain infarction, reflux-cough syndrome, radiation pneumonitis, catatonia, end-stage renal disease, and genitourinary syndrome of menopause, among others. Includes new appendices covering common herbs in integrated medicine and herbal activities against pain and chronic diseases; palliative care; and preoperative evaluation. Offers online access to Patient Teaching Guides in both English and Spanish.
| Author | : John C. Carey |
| Publisher | : John Wiley & Sons |
| Total Pages | : 1104 |
| Release | : 2021-01-27 |
| Genre | : Science |
| ISBN | : 1119432677 |
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 | : Kendra Neilsen Myles |
| Publisher | : |
| Total Pages | : 214 |
| Release | : 2016-10-20 |
| Genre | : Connective tissues |
| ISBN | : 9780997319620 |
This listing is for the 7x10 full-color version of the paperback book. An inspirational collection of stories, filled with devastation, heartbreak, triumph, and strength as written by those affected by different types of Ehlers-Danlos syndrome. EDS is a group of heritable connective tissue disorders that can cause a wide variety of symptoms throughout different body systems; each unique in presentation to the individual. The variety of symptoms and presentations proves challenging to the medical community in diagnosing and treating patients; many of whom are misdiagnosed and suffer as a result. EDS has been commonly viewed as just Benign Joint Hypermobility Syndrome (BJHS/JHS) or Hypermobility Syndrome (HMS). Based upon recent research, the prevalence of EDS exceeds current estimates. Kendra Neilsen Myles founded Sisters Media, LLC with core values of giving back and providing an outlet to those willing to share their stories through submissions in the Our Stories of Strength anthology series. Sisters Media, LLC recognizes that it is through opening doors to needed conversations and sharing stories of strength, determination, and perseverance that we are able to facilitate positive changes to the way we live and help shape perceptions of those around us, as well as in the medical community. We are #Stronger2Gether."
| Author | : Marina Colombi |
| Publisher | : MDPI |
| Total Pages | : 218 |
| Release | : 2020-12-14 |
| Genre | : Science |
| ISBN | : 3039363220 |
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 | : Robert J. Gorlin |
| Publisher | : Oxford University Press |
| Total Pages | : 1332 |
| Release | : 2001-09-27 |
| Genre | : Medical |
| ISBN | : 0199747725 |
This classic text, one of the true anchors of our clinical genetics publishing program, covers over 700 different genetic syndromes involving the head and neck, and it has established itself as the definitive, comprehensive work on the subject. The discussion covers the phenotype spectrum, epidemiology, mode of inheritance, pathogenesis, and clinical profile of each condition, all of which is accompanied by a wealth of illustrations. The authors are recognized leaders in the field, and their vast knowledge and strong clinical judgment will help readers make sense of this complex and burgeoning field. Dr. Gorlin retires as editor in this edition and co-editor Raoul Hennekam takes over. Dr. Hennekam is regarded as one of the top dysmorphologists--and indeed one of the top clinical geneticists--in the world. Judith Allanson is new to the book but is a veteran OUP author and a widely respected geneticist, and Ian Krantz at Penn is a rising star in the field. Dr. Gorlin's name has always been closely associated with the book, and it has now become part of the title. As in all fields of genetics, there has been an explosion in the genetics of dysmorphology syndromes, and the author has undertaken a complete updating of all chapters in light of the discoveries of the Human Genome Project and other ongoing advances, with some chapters requiring complete rewriting. Additional material has been added both in terms of new syndromes and in updating information on existing syndromes. The book will appeal to clinical geneticists, pediatricians, neurologists, head and neck surgeons, otolarynologists, and dentists. The 4th edition, which published in 2001, has sold 2,600 copies.
| Author | : |
| Publisher | : ScholarlyEditions |
| Total Pages | : 38 |
| Release | : 2013-07-22 |
| Genre | : Medical |
| ISBN | : 1481652168 |
Ehlers-Danlos Syndrome: New Insights for the Healthcare Professional: 2013 Edition is a ScholarlyPaper™ that delivers timely, authoritative, and intensively focused information about Additional Research in a compact format. The editors have built Ehlers-Danlos Syndrome: New Insights for the Healthcare Professional: 2013 Edition on the vast information databases of ScholarlyNews.™ You can expect the information about Additional Research in this book to be deeper than what you can access anywhere else, as well as consistently reliable, authoritative, informed, and relevant. The content of Ehlers-Danlos Syndrome: New Insights for the Healthcare Professional: 2013 Edition has been produced by the world’s leading scientists, engineers, analysts, research institutions, and companies. All of the content is from peer-reviewed sources, and all of it is written, assembled, and edited by the editors at ScholarlyEditions™ and available exclusively from us. You now have a source you can cite with authority, confidence, and credibility. More information is available at http://www.ScholarlyEditions.com/.
| Author | : Dr. Hakim. Saboowala. |
| Publisher | : Dr.Hakim Saboowala |
| Total Pages | : 87 |
| Release | : 2022-08-22 |
| Genre | : Medical |
| ISBN | : |
What is“Ehlers-Danlos Syndrome.?" A Complete Pedagogy. Ehlers-Danlos syndrome (EDS) is a genetic disorder affecting collagen formation and function. It affects virtually every organ system, which can result in significant morbidity and mortality. Proper diagnosis of EDS is essential to improving the overall health and well-being of affected patients as well as mitigating the complications which include: § Arterial rupture, § Organ rupture, § Joint dislocation, § Chronic pain, and § Fatigue, among many others. Thus, I have endeavoured in this E-Booklet to outline the background, presentation, evaluation, and management of Ehlers-Danlos syndrome and its complications and to highlight the role of an interprofessional team in ensuring the best patient outcomes along with plenty of ILLUSTRATIONS for better understanding. …Dr. H. K. Saboowala. M.B.(Bom) .M.R.S.H.(London)
