Download or read book Diagnosis and Management of Marfan Syndrome written by Anne H. Child and published by Springer. This book was released on 2016-04-06 with total page 311 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.​

Download or read book Aneurysms Osteoarthritis Syndrome written by Denise van der Linde and published by Elsevier. This book was released on 2016-10-03 with total page 180 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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

Download or read book Aortopathy written by Koichiro Niwa and published by Springer. This book was released on 2017-02-09 with total page 327 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Download or read book Cardiac Problems in Pregnancy written by Uri Elkayam and published by John Wiley & Sons. This book was released on 2019-09-02 with total page 1227 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Download or read book The Marfan Syndrome written by Reed E. Pyeritz and published by . This book was released on 1999 with total page 50 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Download or read book Cassidy and Allanson s Management of Genetic Syndromes written by John C. Carey and published by John Wiley & Sons. This book was released on 2021-01-27 with total page 1104 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Download or read book Cardiovascular Genetics and Genomics written by Dhavendra Kumar and published by Springer. This book was released on 2018-01-17 with total page 921 pages. Available in PDF, EPUB and Kindle. Book excerpt: This title reflects the exponential growth in the knowledge and information on this subject and defines the extensive clinical translation of cardiovascular genetics and genomics in clinical practice. This concise, clinically oriented text is targeted at a broad range of clinicians who manage patients and families with a wide range of heterogeneous inherited cardiovascular conditions. Cardiovascular Genetics and Genomics: Principles and Clinical Practice includes a concise and clear account on selected topics written by a team of leading experts on clinical cardiovascular genetics. Each chapter include key information to assist the clinician and case histories have been incorporated to reflect contemporary practice in clinical cardiovascular genetics and genomics. Therefore this will be of key importance to all professionals working in the discipline, from clinicians and trainees in cardiology, cardiac surgery, electrophysiology, immunology through geneticists, nursing staff and those involved in precision medicine.

Download or read book Ferri s Clinical Advisor 2021 written by Fred F. Ferri and published by Elsevier Health Sciences. This book was released on 2020-06-10 with total page 4158 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Download or read book Human Pathobiochemistry written by Toshitaka Oohashi and published by Springer. This book was released on 2019-03-13 with total page 343 pages. Available in PDF, EPUB and Kindle. Book excerpt: This textbook uses a case-study approach to present the core principles of biochemistry and molecular biology in the context of human disease to students who will be involved in patient care. The 29 clinical cases have been carefully selected to cover key scientific concepts and some common, and other not so common, diseases. While the principal focus is on topics relating to metabolic disease, further subjects such as connective tissue disorders, neurological disorders, auto-inflammatory disorders, infective diseases, and cancer are also addressed. Each chapter provides a specific patient report that includes the natural history, pertinent clinical laboratory data, physical findings, subsequent diagnosis, and therapy. This is followed by a comprehensive discussion of the normal biochemical processes and reactions pertaining to the case, along with the pathophysiological mechanisms of the disease. Graphical diagrams are provided in each chapter for ease of comprehension.

Download or read book Management of Genetic Syndromes written by Suzanne B. Cassidy and published by John Wiley & Sons. This book was released on 2011-09-20 with total page 1678 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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

Download or read book Forensic Pathology Reviews Vol 4 written by Michael Tsokos and published by Springer Science & Business Media. This book was released on 2007-11-05 with total page 458 pages. Available in PDF, EPUB and Kindle. Book excerpt: Leading forensic pathologists from around the world synthesize the practical advances in a variety of important subspecialties of forensic pathology and demonstrate how the latest medical and scientific progress is being applied to solve current problems of high interest to forensic pathologists today. The authors offer cutting-edge insights into death from environmental conditions (lightning and elder abuse), homicide by sharp force, death from natural causes (asthma, Marfan syndrome, and peliosis of the liver and spleen), and pathology of human endothelium in septic organ failure. Additional chapters address special aspects of crime scene interpretation and behavioral analysis, neogenesis of ethanol and fusel oils in putrefying blood, agrochemical poisoning, imaging techniques in forensic pathology, and fixation techniques for organs and parenchymal structures. A comprehensive, up-to-date review of the international literature is given for each chapter.

Download or read book Connective Tissue and Its Heritable Disorders written by Peter M. Royce and published by John Wiley & Sons. This book was released on 2003-04-14 with total page 1201 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Download or read book Preoperative Assessment written by Derek Dillane and published by Springer Nature. This book was released on 2021-04-27 with total page 326 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book uses a case-based approach to provide current information on a range of medical issues with the goal of enhancing preoperative evaluation and optimization. It meets the market need for a resource that concisely encapsulates current knowledge on the medical management of specific topics in a setting relevant to the preoperative clinic. In so doing the book aims to improve patient care and safety, enhance resource use, facilitate appropriate and timely management of preexisting conditions and diminish patient concerns. Organized into sections according to body system, each section consists of chapters delineating a specific disorder. Each chapter starts with a clinical vignette followed by a question-and-answer style investigation of the relevant issues. These questions attempt to address commonly encountered clinical dilemmas where opinion often differs between, and occasionally within, medical sub-specialties. Expertly written chapters are also supplemented by a number of chapters which address special considerations such as the frail patient and chronic opioid use. Preoperative Assessment: A Case-Based Approach is an invaluable reference for all physicians involved in preoperative assessment including anesthesiologists, surgeons, internists, family doctors and residents in these fields. Nurse practitioners and other allied heath professionals involved in preoperative evaluation may also find this a book a valuable and timely resource.

Download or read book The Metabolic Molecular Bases of Inherited Disease written by Charles R. Scriver and published by New York ; Montreal : McGraw-Hill. This book was released on 2001 with total page 6338 pages. Available in PDF, EPUB and Kindle. Book excerpt: Presents clinical, biochemical, and genetic information concerning those metabolic anomalies grouped under inborn errors of metabolism.

Download or read book Progress in Heritable Soft Connective Tissue Diseases written by Jaroslava Halper and published by Springer Science & Business Media. This book was released on 2014-01-18 with total page 246 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Download or read book Diagnosis and Management of Adult Congenital Heart Disease E Book written by Michael A. Gatzoulis and published by Elsevier Health Sciences. This book was released on 2017-02-02 with total page 576 pages. Available in PDF, EPUB and Kindle. Book excerpt: Designed to meet the needs of clinicians working with adults with congenital heart disease, Diagnosis and Management of Adult Congenital Heart Disease , by Drs. Michael A. Gatzoulis, Gary D. Webb, and Piers E. F. Daubeney, offers essential guidance on the anatomical issues, clinical presentation, diagnosis, and treatment options available to practitioners today. This latest edition features completely updated content, including new information for nurses and nurse practitioners who, now more than ever, are playing an important role in the care of adults with CHD. You'll also access four new chapters, illustrated congenital defects, coverage of long-term outcomes, and much more. Drs. Gatzoulis, Webb, and Daubeney lead a team of experts ideally positioned to provide state-of-the-art global coverage of this increasingly important topic. Each disease-oriented chapter is written to a highly structured template and provides key information on incidence, genetics, morphology, presentation, investigation and imaging, and treatment and intervention. Congenital defects are illustrated with full-color line drawings and by the appropriate imaging modality (for example, EKG, x-ray, echocardiogram, MRI, CT, ). Provides coverage of long-term outcomes, including the management of pregnant patients and patients undergoing non-cardiac surgery. Features the addition of four new chapters: A Historic Perspective; Quality of Life in Patients with Pulmonary Hypertension; Psychosocial Issues in ACHD; Supportive and Palliative Care for End-Stage ACHD.

Download or read book Dream Again written by Isaiah Austin and published by Simon and Schuster. This book was released on 2015-06-23 with total page 224 pages. Available in PDF, EPUB and Kindle. Book excerpt: The inspiring story of Isaiah Austin, the man who captured our hearts when he was made the honorary NBA draft pick after a shocking diagnosis ended his professional basketball career before he could even step onto the court. “There are two choices in life: you make it your excuse or you make it your story.” Isaiah Austin’s mother shared these words of wisdom with him as a child as he came to terms with a torn retina taking away the ability to see with his right eye. Faced with adversity at such a young age, Isaiah had to choose—let his disability define him or overcome the challenge and shine. Overcoming that challenge is exactly what Isaiah did as he made a name for himself on Baylor University’s NCAA Division 1 basketball team. Everyone expected Isaiah to have a successful career in the NBA after college, but on June 21, 2014—just five days before the NBA draft—Austin was diagnosed with Marfan syndrome, a genetic disorder that affects the body’s connective tissue, putting him at risk of rupturing his heart if he continued to play basketball. In seconds, Austin’s hopes for a career in the NBA became impossible. After hearing about Isaiah’s diagnosis, NBA commissioner Adam Silver invited Austin to attend the 2014 draft as his personal guest. The League recognized Isaiah’s courage, resilience, and determination in a bittersweet moment when he was made an Honorary Draft Pick. Rather than letting another challenge destroy his faith, Austin has once again strived to overcome adversity by becoming a spokesperson for The Marfan Foundation, raising awareness and understanding for the disease. Despite the many heartbreaking challenges he has faced, Isaiah’s story is inspirational and full of hope as he encourages everyone to tower in the face of adversity and keep living out your dreams, no matter what life throws your way. *Proceeds from Dream Again will go to the Isaiah Austin Foundation, which provides support for the awareness and research of Marfan syndrome and those affected by it.