Turner Syndrome
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| Author | : Patricia Y. Fechner |
| Publisher | : Springer Nature |
| Total Pages | : 280 |
| Release | : 2020-03-20 |
| Genre | : Medical |
| ISBN | : 303034150X |
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 | : M. Polak |
| Publisher | : Karger Medical and Scientific Publishers |
| Total Pages | : 170 |
| Release | : 2018-06-11 |
| Genre | : Medical |
| ISBN | : 3318061433 |
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 | : Bruno Bissonnette |
| Publisher | : McGraw-Hill Education / Medical |
| Total Pages | : 988 |
| Release | : 2006-08-10 |
| Genre | : Medical |
| ISBN | : |
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 | : John C. Carey |
| Publisher | : John Wiley & Sons |
| Total Pages | : 1104 |
| Release | : 2021-01-27 |
| Genre | : Science |
| ISBN | : 1119432677 |
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 | : Cheryl Jost |
| Publisher | : Xlibris Corporation |
| Total Pages | : 64 |
| Release | : 2018-02-16 |
| Genre | : Biography & Autobiography |
| ISBN | : 1543468063 |
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 |
| Total Pages | : 180 |
| Release | : 2016-10-03 |
| Genre | : Medical |
| ISBN | : 0128027118 |
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 | : Emily Romick |
| Publisher | : Independently Published |
| Total Pages | : 70 |
| Release | : 2020-10-07 |
| Genre | : |
| ISBN | : 9781090801524 |
Learn all about Turners Syndrome so you can feel knowledgable and equipped moving forward - whether you have the condition or know someone who does.What is Turners Syndrome What is different about girls with TS, internally or externally? What are the symptoms and concerns - medically, mentally, socially......? How do they cope in their everyday lives?
| Author | : Colin R Martin |
| Publisher | : Academic Press |
| Total Pages | : 628 |
| Release | : 2021-05-29 |
| Genre | : Psychology |
| ISBN | : 0128179899 |
Diagnosis, Management and Modeling of Neurodevelopmental Disorders: The Neuroscience of Development is a comprehensive reference on the diagnosis and management of neurodevelopment and associated disorders. The book discusses the mechanisms underlying neurological development and provides readers with a detailed introduction to the neural connections and complexities in biological circuitries, as well as the interactions between genetics, epigenetics and other micro-environmental processes. In addition, the book also examines the pharmacological and non-pharmacological interventions of development-related conditions. - Provides the most comprehensive coverage of the broad range of topics relating to the neuroscience of aging - Features sections on the genetics that influences aging and diseases of aging - Contains an abstract, key facts, a mini dictionary of terms, and summary points in each chapter - Focuses on neurological diseases and conditions linked to aging, environmental factors and clinical recommendations - Includes more than 500 illustrations and tables
| Author | : Henry Burger |
| Publisher | : |
| Total Pages | : 152 |
| Release | : 2014-01-15 |
| Genre | : |
| ISBN | : 9781475765083 |
| Author | : Debbie Browne |
| Publisher | : PCG Legacy |
| Total Pages | : 0 |
| Release | : 2012 |
| Genre | : Christian biography |
| ISBN | : 9781936417773 |
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.
