Turner Syndrome

Author : Patricia Y. Fechner
Publisher : Springer Nature
ISBN 13 : 303034150X
Total Pages : 280 pages
Book Rating : 4.03/5 ( download)

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Download or read book Turner Syndrome written by Patricia Y. Fechner and published by Springer Nature. This book was released on 2020-03-20 with total page 280 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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 13 : 1119432677
Total Pages : 1104 pages
Book Rating : 4.78/5 ( download)

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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.

Author : M. Polak
Publisher : Karger Medical and Scientific Publishers
ISBN 13 : 3318061433
Total Pages : 164 pages
Book Rating : 4.37/5 ( download)

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Download or read book Transition of Care written by M. Polak and published by Karger Medical and Scientific Publishers. This book was released on 2018-06-11 with total page 164 pages. Available in PDF, EPUB and Kindle. Book excerpt: Pediatricians face many questions and challenges during patients’ transition from childhood to adulthood. Chronic diseases justify long-term medical, psychological, educational, and social management. The establishment of networks with adult endocrinologists is, therefore, very important to achieving optimal conditions for a successful transition period. In this book, leading experts discuss major public health issues such as diabetes and obesity. They also review genetic diseases, including Turner syndrome and congenital adrenal hyperplasia. All clinical cases are presented in a focused way to highlight any issues which might be discussed by the doctor with patients and family. Psychological approaches are debated as are proposals for defining specific tools to encourage autonomy during this life period. This book is a valuable tool and will be helpful in answering many questions for endocrinologists, adult and pediatric, dedicated to the long-term management of patients with chronic diseases.

Author : Cheryl Jost
Publisher : Xlibris Corporation
ISBN 13 : 1543468063
Total Pages : 67 pages
Book Rating : 4.69/5 ( download)

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Download or read book The Silent Syndrome written by Cheryl Jost and published by Xlibris Corporation. This book was released on 2018-02-16 with total page 67 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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 : Henry Burger
Publisher : Springer Science & Business Media
ISBN 13 : 147576507X
Total Pages : 191 pages
Book Rating : 4.76/5 ( download)

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Download or read book Sex Hormone Replacement Therapy written by Henry Burger and published by Springer Science & Business Media. This book was released on 2013-03-09 with total page 191 pages. Available in PDF, EPUB and Kindle. Book excerpt: Sex Hormone Replacement Therapy addresses important issues in contemporary endocrinology. Its major emphasis is on the consequences of the menopause and on androgen deficiency in the absence of overt disease of the hypothalamus and/or pituitary in men. The use of hormone therapy for the primary prevention of cardiovascular disease in post-menopausal women has become an area of major debate, and the pros and cons are examined in detail. Secondary prevention also remains controversial and is addressed in this volume. An issue of particular concern is the treatment of estrogen deficiency symptoms in women with the diagnosis of breast cancer. Whether older men with some androgen deficiency symptoms and equivocally low plasma testosterone concentrations should be treated with androgens is also a matter of great debate, as is the efficacy and safety of plant estrogens in the treatment of menopause-related complaints. Sex Hormone Replacement Therapy will be of interest to students and non-specialists, as well as a wide range of medical practitioners including endocrinologists, gynecologists, rheumatologists and cardiologists.

Author : Suzanne B. Cassidy
Publisher : John Wiley & Sons
ISBN 13 : 1118210670
Total Pages : 1678 pages
Book Rating : 4.73/5 ( download)

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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

Author : Takara Stanley
Publisher : Springer Nature
ISBN 13 : 3030522156
Total Pages : 361 pages
Book Rating : 4.55/5 ( download)

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Download or read book Endocrine Conditions in Pediatrics written by Takara Stanley and published by Springer Nature. This book was released on 2020-09-25 with total page 361 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book is aimed at primary care providers who care for the pediatric age group (general pediatrician, the PCP working with pediatric patients, and family medicine providers) with the goal of covering the endocrine differential diagnosis of common signs and symptoms of possible endocrine disease as well as appropriate initial laboratory evaluation and interpretation. While multiple pediatric endocrine textbooks exist, most of them are heavy in coverage of physiology and rare diseases, with less discussion of practical steps in evaluation and diagnosis. This book distinguishes itself through a very practical approach. The first section is organized by presenting signs and symptoms, the second section is organized by laboratory interpretation, and the third section provides summaries of common pediatric endocrine disorders. Chapters are concise, providing critical clinical information including clinical pearls, common diagnoses and important points in patient counseling. Written by experts in the field, Endocrine Conditions in Pediatrics is a valuable resource that provides general pediatricians and other primary care providers with all of the information they need to provide superb patient care before transferring to a pediatric endocrinologist when necessary.

Author : Denise van der Linde
Publisher : Elsevier
ISBN 13 : 0128027118
Total Pages : 178 pages
Book Rating : 4.10/5 ( download)

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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 178 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

Author : April Fore
Publisher :
ISBN 13 : 9781096211105
Total Pages : 32 pages
Book Rating : 4.06/5 ( download)

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Download or read book The Adventures of E. G. G. (Emma Grace Godwins) written by April Fore and published by . This book was released on 2019-04-28 with total page 32 pages. Available in PDF, EPUB and Kindle. Book excerpt: Emma Grace Godwins better know as EGG is a very adventurous little girl born with a rare health condition. EGG doesn't let her condition stop or slow her down. Sit back and enjoy this fun adventure with EGG!!!

Author : Michael B. Ranke
Publisher :
ISBN 13 :
Total Pages : 296 pages
Book Rating : 4.91/5 ( download)

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Download or read book Turner Syndrome written by Michael B. Ranke and published by . This book was released on 1991 with total page 296 pages. Available in PDF, EPUB and Kindle. Book excerpt: