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Author: Publisher: Richards Education ISBN: Category : Family & Relationships Languages : en Pages : 144
Book Description
Navigating the complexities of Marfan Syndrome can be challenging, but with the right information, support, and guidance, individuals and families affected by this condition can lead fulfilling lives. "Understanding Marfan Syndrome: A Complete Guide" offers a comprehensive look into every aspect of Marfan Syndrome, providing essential knowledge from genetic foundations to daily management strategies. Crafted by experts in the field, this guide breaks down the medical, psychological, and social nuances of Marfan Syndrome. It begins with a detailed exploration of what Marfan Syndrome is, including its genetic origins, symptoms, and diagnostic criteria. It then delves into the intricacies of medical management, addressing vital concerns such as cardiovascular health, eye care, and the specifics of surgical options. Beyond medical advice, the book offers practical tips for daily living, legal advocacy, and navigating emotional and psychological impacts. Each chapter is meticulously structured to ensure that readers—whether they are patients, family members, educators, or healthcare providers—find valuable, actionable information. The book also highlights the latest advancements in research and provides a wealth of resources and support networks. "Understanding Marfan Syndrome: A Complete Guide" is more than just a medical manual; it is a companion for anyone touched by Marfan Syndrome, offering hope and empowering readers with knowledge to tackle the challenges and embrace the opportunities of living with Marfan Syndrome.
Author: Publisher: Richards Education ISBN: Category : Family & Relationships Languages : en Pages : 144
Book Description
Navigating the complexities of Marfan Syndrome can be challenging, but with the right information, support, and guidance, individuals and families affected by this condition can lead fulfilling lives. "Understanding Marfan Syndrome: A Complete Guide" offers a comprehensive look into every aspect of Marfan Syndrome, providing essential knowledge from genetic foundations to daily management strategies. Crafted by experts in the field, this guide breaks down the medical, psychological, and social nuances of Marfan Syndrome. It begins with a detailed exploration of what Marfan Syndrome is, including its genetic origins, symptoms, and diagnostic criteria. It then delves into the intricacies of medical management, addressing vital concerns such as cardiovascular health, eye care, and the specifics of surgical options. Beyond medical advice, the book offers practical tips for daily living, legal advocacy, and navigating emotional and psychological impacts. Each chapter is meticulously structured to ensure that readers—whether they are patients, family members, educators, or healthcare providers—find valuable, actionable information. The book also highlights the latest advancements in research and provides a wealth of resources and support networks. "Understanding Marfan Syndrome: A Complete Guide" is more than just a medical manual; it is a companion for anyone touched by Marfan Syndrome, offering hope and empowering readers with knowledge to tackle the challenges and embrace the opportunities of living with Marfan Syndrome.
Author: Anne H. Child Publisher: Springer ISBN: 1447154428 Category : Medical Languages : en Pages : 311
Book Description
This book has been written in response to the many excellent questions posed by our patients and their care teams, questions which deserve the best-informed and up to date answers provided by our experts in each of the many health areas affected by Marfan syndrome. The aim of this text is to provide a summary of the present day understanding of diagnosis, management and best medical and surgical treatment of infants, children and adults with Marfan syndrome. The authors cover the lifelong problems from birth to old age, in each affected system. Forty percent of this information is the result of new careful research based on a well-defined longitudinally studied UK patient population.
Author: Koichiro Niwa Publisher: Springer ISBN: 4431560718 Category : Medical Languages : en Pages : 327
Book Description
This is the first textbook to focus on Aortopathy, a new clinical concept for a form of vasculopathy. The first section of the book starts from discussing general concept and history of Aortopathy, and then deals with its pathophysiology, manifestation, intrinsic factor, clinical implication, management and prevention. The second part closely looks at various disorders of the Aortopathy such as bicuspid aortic valve and coarctation of aorta. The book editors have published a lot of works on the topic and have been collecting relating data in the field of congenital heart disease for the past 20 years, thus present the book with confidence. The topic - an association of aortic pathophysiological abnormality, aortic dilation and aorto-left ventricular interaction - is getting more and more attention among cardiovascular physicians. This is the first book to refer for cardiologists, pediatric cardiologists, surgeons, ACHD specialists, etc. to acquire thorough knowledge on Aortopathy.
Author: Denise van der Linde Publisher: Elsevier ISBN: 0128027118 Category : Medical Languages : en Pages : 180
Book Description
Aneurysms-Osteoarthritis Syndrome: SMAD3 Gene Mutations is a first-of-its-kind compilation of the genetic discovery, research, and care associated with AOS. With the field of genetically triggered aortopathies growing, this important reference will compile the newest discoveries in this field, allowing cardiologists, cardio-thoracic surgeons, clinical geneticists, vascular surgeons, orthopedic surgeons, and researchers to gain the knowledge they need without having to gather the data from various sources. Coverage includes genotype and phenotype correlations, the functional role of SMAD3, and insights into the role of TGFbeta signaling in aortic disease. The book will increase knowledge about AOS, providing awareness and better patient care for this aggressive disease. - Covers Aneurysms-Osteoarthritis Syndrome, from genetic discovery to patient care - Contains clinical management guidance on optimal cardiovascular treatments and surgery - Explains the autosomal dominant syndromes caused by mutations in the SMAD3 gene - Identifies the key features of this syndrome, including arterial aneurysms and tortuosity, early onset arthritis, and mild craniofacial features
Author: John C. Carey Publisher: John Wiley & Sons ISBN: 1119432677 Category : Science Languages : en Pages : 1104
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.
Author: Suzanne B. Cassidy Publisher: John Wiley & Sons ISBN: 1118210670 Category : Medical Languages : en Pages : 1678
Book Description
The bestselling guide to the medical management of common genetic syndromes —now fully revised and expanded A review in the American Journal of Medical Genetics heralded the first edition of Management of Genetic Syndromes as an "unparalleled collection of knowledge." Since publication of the first edition, improvements in the molecular diagnostic testing of genetic conditions have greatly facilitated the identification of affected individuals. This thorough revision of the critically acclaimed bestseller offers original insights into the medical management of sixty common genetic syndromes seen in children and adults, and incorporates new research findings and the latest advances in diagnosis and treatment of these disorders. Expanded to cover five new syndromes, this comprehensive new edition also features updates of chapters from the previous editions. Each chapter is written by an expert with extensive direct professional experience with that disorder and incorporates thoroughly updated material on new genetic findings, consensus diagnostic criteria, and management strategies. Edited by two of the field's most highly esteemed experts, this landmark volume provides: A precise reference of the physical manifestations of common genetic syndromes, clearly written for professionals and families Extensive updates, particularly in sections on diagnostic criteria and diagnostic testing, pathogenesis, and management A tried-and-tested, user-friendly format, with each chapter including information on incidence, etiology and pathogenesis, diagnostic criteria and testing, and differential diagnosis Up-to-date and well-written summaries of the manifestations followed by comprehensive management guidelines, with specific advice on evaluation and treatment for each system affected, including references to original studies and reviews A list of family support organizations and resources for professionals and families Management of Genetic Syndromes, Third Edition is a premier source to guide family physicians, pediatricians, internists, medical geneticists, and genetic counselors in the clinical evaluation and treatment of syndromes. It is also the reference of choice for ancillary health professionals, educators, and families of affected individuals looking to understand appropriate guidelines for the management of these disorders. From a review of the first edition: "An unparalleled collection of knowledge . . . unique, offering a gold mine of information." —American Journal of Medical Genetics
Author: C.A. Nienaber Publisher: Springer Science & Business Media ISBN: 9780792355175 Category : Medical Languages : en Pages : 300
Book Description
Describes recent surgical techniques developed to improve prognosis in aortic diseases, and discusses recent interventional strategies such as endovascular stent-graft placement and non-surgical reconstruction of the aorta. Chapters deal with aortic dissection, aortic aneurysm, surgical treatment of aortic aneurysms and dissections, inherited disorders of the aorta, aortic trauma, aortitis, and etiology and pathology of aortic malformations. Each chapter is organized in a similar fashion, with information on demographic aspects, pathology, clinical presentation, and diagnostic and therapeutic approaches. Annotation copyrighted by Book News, Inc., Portland, OR
Author: Peter M. Royce Publisher: John Wiley & Sons ISBN: 0471461172 Category : Medical Languages : de Pages : 1201
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: Charles R. Scriver Publisher: New York ; Montreal : McGraw-Hill ISBN: 9780071363198 Category : Genetic disorders Languages : en Pages : 6338
Book Description
Presents clinical, biochemical, and genetic information concerning those metabolic anomalies grouped under inborn errors of metabolism.
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Author: 
Author: Anne H. Child
Author: Reed E. Pyeritz
Author: Koichiro Niwa
Author: Denise van der Linde
Author: John C. Carey
Author: Suzanne B. Cassidy
Author: C.A. Nienaber
Author: Peter M. Royce
Author: Charles R. Scriver