Author: Patricia Y. Fechner
Publisher: Springer Nature
ISBN: 303034150X
Category : Medical
Languages : en
Pages : 280
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Book Description
Comprehensive and practical, this is a unique and multidisciplinary resource for the clinician caring for the girl or woman with Turner syndrome. Although approximately one in 2000 women are affected, many have not been diagnosed; as the advent of prenatal genetic testing becomes more prevalent, the diagnosis of Turner syndrome will be made much more frequently. There is therefore a greater need for this single source that provides the clinician with the information required to care for this multifaceted disorder. The opening chapters discuss the biology, genetics and current standard of care for females with Turner syndrome in order to provide proper background and context for the remaining chapters. The main section of the book, taking a body system approach, is comprised of chapters written by an expert in his or her subspecialty and will discuss pathophysiology and diagnosis, as well as therapeutic options. Reproductive, cardiac, renal, endocrine, neurologic, musculoskeletal, and sensory issues and symptoms associated with Turner syndrome are all covered in detail. Additional chapters describe current resources available to both caregiver and patient as well as future directions for research and management. Currently, there are no similar books on the market that take an all-inclusive, multidisciplinary approach in the care of individuals with Turner syndrome. As such, this book should be the standard of care for management of this challenging and multifaceted condition.
Author: John C. Carey
Publisher: John Wiley & Sons
ISBN: 1119432677
Category : Science
Languages : en
Pages : 1104
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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.
Author: Bruno Bissonnette
Publisher: McGraw-Hill Education / Medical
ISBN:
Category : Medical
Languages : en
Pages : 988
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Book Description
Essential medical facts on over 2,000 genetic syndromes. Organized alphabetically, this book provides comprehensive medical coverage for each syndrome, from genetic basis to manifestations to related medical considerations.
Author: Cheryl Jost
Publisher: Xlibris Corporation
ISBN: 1543468063
Category : Biography & Autobiography
Languages : en
Pages : 64
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Book Description
This book is a heartwarming story of one TS womans journey of agony and pain, acceptance, and unconditional love. Join her as she educates you about TS and tells you about her unbelievable voyage across the world to finally find her two amazing children and the relentless dedication to achieve the family she and her husband always dreamed of. This voyage created a deep passion to support other TS families and allowed her to meet some incredible people along the way. This book will describe how her diagnosis of TS allowed her to educate the public about this rare chromosomal disorder with accurate information, break down TS stereotypes/misconceptions, and bring hope and support to newly diagnosed TS families. She has been fortunate to do this in many ways and continues doing so today on a national level through the Turner Syndrome Society of the US. (TSSUS). This is an opportunity to share with TS individuals and their family and friends her story of living with TS and the true and honest feelings revealed through different life experiences and its affects. You wont want to miss this intriguing story of an amazing roller-coaster ride of discrimination, three emotional IVF attempts, the miracle of how she and her husband found their two adoptions, and the awesome work being done today to help TS individuals lead a normal and productive life. This book will also offer a wide range of medical and support resources and offer hope and inspiration to newly diagnosed families who think they are out there all alone raising their TS daughter.
Author: Denise van der Linde
Publisher: Elsevier
ISBN: 0128027118
Category : Medical
Languages : en
Pages : 180
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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: Suzanne B. Cassidy
Publisher: John Wiley & Sons
ISBN: 1118210670
Category : Medical
Languages : en
Pages : 1678
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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: Debbie Browne
Publisher: PCG Legacy
ISBN: 9781936417773
Category : Christian biography
Languages : en
Pages : 0
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Book Description
Would you be able to recognize the symptoms of a genetic chromosomal condition that affects one in every 2,500 female births? Would you know enough about the condition to inform others? Information was not as available in the past, often leaving a non-informed mother to have no other option than to shove the issue in a closet of denial and lock the door to keep the unknown at bay. Frustrated with little known facts and a support system can leave a family to move on in life and not spend needless time in worry. After all, it was mostly seen as a cosmetic inconvenience rather than a major health concern. So what if some people are short. Loving a Leaping Butterfly invites you into the relationship between a mother and daughter affected by issues related to Turner syndrome as they traveled many times in the dark with little information. Discover how the condition can have a ripple effect on other family members as well. Loving a Leaping Butterfly will take you from the cradle to the grave with a story that can make a grown man cry. Journey with them through the ups and downs of life and experience how God uses times of trials, tribulation, wrong decisions, and great pain to minister to others in a way that is unique. Witness how nothing is an accident with a sovereign God who is the creator of every human life. Enjoy the victory of what is being done today to crush the ignorance of Turner syndrome and those who are dedicated to creating awareness and providing a global support system. What is it that makes many so passionate to provide a world for this and the generations to come? You will fall in love with those who are affected by this condition by seeing the world through their eyes as you discover how they are able to pollinate with the attraction to ultra violet colors of the world. Accept that their sense of urgency is not the same as those that take life for granted.
Author: Henry Burger
Publisher:
ISBN: 9781475765083
Category :
Languages : en
Pages : 152
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Book Description
Author: Jane Meschan Foy
Publisher:
ISBN: 9781581109665
Category : Children
Languages : en
Pages : 0
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Book Description
The definitive manual of pediatric medicine - completely updated with 75 new chapters and e-book access.
Author: Anil Bhansali
Publisher: Springer
ISBN: 8132228154
Category : Medical
Languages : en
Pages : 450
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Book Description
This book on pediatric endocrinology covers interesting and yet often challenging cases among pediatric patients in a unique Question-Answer format. Simulating the bed-side case discussions during the ward rounds, one question logically leads to another, thereby generating curiosity and promoting evidence-based medicine. Taking the readers through the entire spectrum starting from etiology and pathophysiology to clinical presentation to management principles, each question addresses one key aspect of the disorder. Described in a very simple and lucid narrative, this book ensures sound conceptual understanding while covering each topic comprehensively. This volume covers important topics such as short stature, pubertal disorders, thyroid disorders, childhood Cushing syndrome, rickets and osteomalacia, disorder of sexual differentiation and diabetes in the young. Less common disorder such as multiple endocrine neoplasia has also been incorporated. These cases are not only seen by endocrinologists, but are also managed by paediatricians, internists, obstetricians and gynaecologists, orthopaedicians and surgeons.
