› › Mckusick S Heritable Disorders Of Connective Tissue

Connective Tissue and Its Heritable Disorders

Author : Peter M. Royce

Publisher : John Wiley & Sons

Page : 1201 pages

File Size : 40,53 MB

Release : 2003-04-14

Category : Medical

ISBN : 0471461172

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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.



The Ehlers-Danlos Syndrome

Author : Peter Beighton

Publisher :

Page : 216 pages

File Size : 21,66 MB

Release : 1970

Category : Medical

ISBN :

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Book Description

Ehlers-Danlos Syndrom.



Ehlers-Danlos Syndrome: A Multidisciplinary Approach

Author : J.W.G. Jacobs

Publisher : IOS Press

Page : 370 pages

File Size : 42,62 MB

Release : 2018-08-14

Category : Medical

ISBN : 1614998787

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Book Description

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.





Cassidy and Allanson's Management of Genetic Syndromes

Author : John C. Carey

Publisher : John Wiley & Sons

Page : 1104 pages

File Size : 26,55 MB

Release : 2021-01-27

Category : Science

ISBN : 1119432677

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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.



Biochemistry of Collagen

Author : Gopalasamudram Ramachandran

Publisher : Springer Science & Business Media

Page : 546 pages

File Size : 10,62 MB

Release : 2013-06-29

Category : Science

ISBN : 1475746024

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Book Description

Collagen is a fascinating protein not only because of its ubiquitous occurrence in multicellular animals, but also because of its unique chemi cal structure. As the predominant constituent in bone, cartilage, skin, tendon, and tooth, it is not surprising that collagen is of interest to anatomists, biochemists, biomedical engineers, cell biologists, dermatolo gists, dental surgeons, leather chemists, orthopedic surgeons, physiologists, physicians, zoologists, and a host of others. This book was planned to provide an up-to-date comprehensive survey of all aspects of biochemistry of collagen. The recent discovery of genetically distinct collagens with tissue specificity has opened a new era in collagen biochemistry, and Karl Piez discusses this in the opening chapter on primary structure. In the next chapter, Ramachandran and Rama krishnan deal with the molecular structure of collagen, placing special emphasis on the conformational aspects of its polypeptide chains. Follow ing the consideration of primary and secondary structure of collagen, the three-dimensional arrangement of collagen molecules in the fibrils is covered by Miller in Chapter 3. Collagen is generally in the insoluble state in the living organism due to the cross-linking of individual molecules, and Tanzer describes the various aspects of this cross-linkage in Chapter 4. The biosynthesis of collagen is discussed in depth by Prockop and his colleagues.



The Marfan Syndrome

Author : Reed E. Pyeritz

Publisher :

Page : 50 pages

File Size : 24,28 MB

Release : 1999

Category : Medical

ISBN :

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Victor McKusick and the History of Medical Genetics

Author : Krishna R. Dronamraju

Publisher : Springer Science & Business Media

Page : 238 pages

File Size : 49,92 MB

Release : 2012-06-08

Category : Medical

ISBN : 1461416779

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Book Description

This book is being planned as a tribute to Dr. Victor A. McKusick (1921-2008), who is well known as the “father of medical genetics”. He was long associated with the Johns Hopkins University School of Medicine, first as a student in the 1940s, and later as a faculty member, becoming the Chairman of the Department of Medicine at Johns Hopkins. He was a co-founder of GENOMICS and founder and lifelong editor of Mendelian Inheritance in Man, a massive compendium of human syndromes and genetic variants. Dr. McKusick made distinguished contributions to all branches of medical genetics. He was a member of the U.S. National Academy of Sciences and many other academies in the world. He was awarded the National Medal of Science in 2002. He received many other honors including several honorary doctorates. The proposed book will reflect all the fields touched upon by Dr. McKusick’s contributions. It will be a valuable source of the latest progress in medical genetics. The contributors are internationally distinguished in their chosen specialties. Besides professional distinction, they are being selected because of their past association with Dr. McKusick, as former students or colleagues who extended his research in some fashion. The proposed book will reflect all the fields touched upon by Dr. McKusick’s contributions. It will be a valuable source of the latest progress in medical genetics. The contributors are internationally distinguished in their chosen specialties. Besides professional distinction, they are being selected because of their past association with Dr. McKusick, as former students or colleagues who extended his research in some fashion.



Cardiac Problems in Pregnancy

Author : Uri Elkayam

Publisher : John Wiley & Sons

Page : 1238 pages

File Size : 20,43 MB

Release : 2019-09-02

Category : Medical

ISBN : 1119409829

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Book Description

Cardiac Problems in Pregnancy offers clinicians the most detailed and comprehensive guide to diagnosing and managing pregnancy-associated cardiovascular diseases currently available. Covering a wide spectrum of congenital and acquired cardiovascular conditions, its extensive contents examine diseases of the heart with an expert awareness of the implications of pregnancy and the attendant physiological changes it brings. Such guidance is vitally required in an age in which congenital and acquired heart diseases are the leading causes of non-obstetrical maternal morbidity and mortality. Featuring 36 new or extensively revised chapters, this fourth edition of the book complements coverage of the latest research and clinical advances with a complete and up-to-date bibliography of literature on pregnancy in women with cardiovascular conditions. It also serves as a practical, step-by-step companion for those caring for heart disease patients during pregnancy, labor, and the post-partum period. Contents include: Coverage of all elements of maternal cardiology Newly written chapters featuring fresh research and data Guidance on performing risk assessments and interventions both prior to and during gestation Explanations of a range of diagnostic and therapeutic approaches to cardiovascular disease in pregnant patients Drawing on expertise from across the fields of cardiovascular medicine, obstetrics, anesthesiology, cardiac surgery, pharmacology, and clinical science, Cardiac Problems in Pregnancy is designed to give invaluable support to all medical professionals involved in maximizing the safety and success of cardiologically complex pregnancies.



NORD Guide to Rare Disorders

Author : National Organization for Rare Disorders

Publisher : Lippincott Williams & Wilkins

Page : 982 pages

File Size : 21,63 MB

Release : 2003

Category : Medical

ISBN : 9780781730631

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Book Description

NORD Guide to Rare Disorders is a comprehensive, practical, authoritative guide to the diagnosis and management of more than 800 rare diseases. The diseases are discussed in a uniform, easy-to-follow format--a brief description, signs and symptoms, etiology, related disorders, epidemiology, standard treatment, investigational treatment, resources, and references.The book includes a complete directory of orphan drugs, a full-color atlas of visual diagnostic signs, and a Master Resource List of support groups and helpful organizations. An index of symptoms and key words offers physicians valuable assistance in finding the information they need quickly.