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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: 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: Cornelia Amalinei Publisher: BoD – Books on Demand ISBN: 9535110810 Category : Medical Languages : en Pages : 242
Book Description
An increase in aortic aneurysm occurrence is registered, despite considerable advances in surgical interventions. Consequently, numerous researchers have been trying to improve the understanding the aortic aneurysm pathogenesis in order to facilitate an early diagnosis, to identify new therapeutic targets, and to develop complex therapies. Within this book, the reader may find interesting data about etiology, risk factors, and pathogenesis of aortic aneurysm, its characteristics in young age, particularities of aneurysms affecting visceral arteries, the preoperative evaluation of the patients, different perspectives regarding the surgical therapy, including the treatment of complications after prior surgery, original proposals regarding new therapeutic modalities, and advanced imaging strategies. The multidisciplinary team of authors provides an interesting lecture and an update of the scientific literature.
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: C.A. Nienaber Publisher: Springer ISBN: 9789401060240 Category : Medical Languages : en Pages : 284
Book Description
This book is an up-to-date summary of all aspects of aortic disease, written by international experts in their fields, covering diagnostic concepts of all aortic diseases, the most modern therapeutic approaches in various aortic syndromes, the pathogenic origin and the most recent molecular and cellular findings that have revolutionized our present knowledge of aortic diseases. The reader will come to understand the aorta as a functional organ with a complex regulatory system rather than just a major arterial vessel, and will have a better understanding of the prognostic impact of various aortic syndromes, and of the most recent therapeutic concepts for chronic as well as acute aortic pathology. As a unique feature of this book, the aorta is placed in the center of systemic illnesses, such as atherosclerosis, diabetes, hypertension, infectious diseases and connective tissue disorders, storage diseases, trauma and toxic factors; this concept aims to attract the attention of both clinical specialties such as cardiology, radiology and cardiovascular surgery and adjacent areas like pathology and clinical genetics. The book portrays the aorta as an integral part of the cardiovascular system and the entire organism and features the complexity and clinical impact of all major aortic diseases.
Author: Hervé Rousseau Publisher: Springer Science & Business Media ISBN: 3540383093 Category : Medical Languages : en Pages : 373
Book Description
This book provides information on the acquired and genetic basis of aortic diseases as well as giving a global perspective on therapeutic alternatives. The new concept of a team approach with surgeons working together with both interventional radiologists and specialists to repair the aorta is the trademark of this book. New material and new viewpoints are provided to practicing physicians in this modern approach to the treatment of disorders of the aorta.
Author: Jaroslava Halper Publisher: Springer Science & Business Media ISBN: 9400778937 Category : Medical Languages : en Pages : 246
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: 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: J.W.G. Jacobs Publisher: IOS Press ISBN: 1614998787 Category : Medical Languages : en Pages : 370
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.
Author: Denise van der Linde
Author: Denise van der Linde
Author: Samantha Putos
Author: Cornelia Amalinei
Author: Koichiro Niwa
Author: C.A. Nienaber
Author: Robert D. Ficalora
Author: Hervé Rousseau
Author: Jaroslava Halper
Author: John C. Carey
Author: J.W.G. Jacobs