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.
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:
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 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 The Silent Syndrome written by Cheryl Jost and published by Xlibris Corporation. This book was released on 2018-02-16 with total page 64 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.
Download or read book Patient Handbook on Turner Syndrome written by Turner Syndrome Foundation and published by Lulu.com. This book was released on 2019-10-22 with total page 72 pages. Available in PDF, EPUB and Kindle. Book excerpt: A Turner Syndrome Foundation resource for newly diagnosed women and girls and those with an existing diagnosis. Use this comprehensive guide to broaden your knowledge about Turner Syndrome and organize your medical records in one place. This book will become a companion to your care, creating a historical record that can be referred back to throughout your TS journey. For caregivers, empower your loved one when she transitions to adult care. For adults, take control of your health.
Download or read book Learning to Soar written by Emily Romick and published by Independently Published. This book was released on 2020-10-07 with total page 70 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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?
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 Tina Talks Turner s A Girl s Guide to Living with Turner Syndrome written by Turner Syndrome Foundation and published by Lulu.com. This book was released on 2019-05 with total page 38 pages. Available in PDF, EPUB and Kindle. Book excerpt: Follow along as Tina shares her Turner Syndrome journey to educate other girls about living with this condition. Journal pages throughout the story open the door to greater discussion. This is a great tool to share a diagnosis or to help a young girl come to terms with a recent diagnosis. This is the companion to a Turner Syndrome Foundation video.
Download or read book Big Things in Little Packages My Growing Up with Turner Syndrome written by Shirley Vallee Hiter and published by Lulu.com. This book was released on 2008-08-14 with total page 112 pages. Available in PDF, EPUB and Kindle. Book excerpt: A personal account of growing up with Turner Syndrome.
Download or read book Sex Hormone Replacement Therapy written by Henry Burger and published by . This book was released on 2014-01-15 with total page 152 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Hot Topics of Debate on Turner Syndrome Growth Puberty Cardiovascular Risks Fertility and Psychosocial Development written by Ahmet Uçar and published by Frontiers Media SA. This book was released on 2019-11-27 with total page 94 pages. Available in PDF, EPUB and Kindle. Book excerpt: Turner syndrome (TS) is a relatively common chromosomal disorder affecting approximately 1 in 2000 live female births. Short stature is the most common clinical presentation of the syndrome; it is observed in 80 % to 100 % of the girls with TS. Growth is stunted to a variable degree at different phases of childhood and adolescence in TS. Although there is consensus on treating growth failure as early as possible, there is ongoing research to ameliorate final height in TS girls. The co-existence of primary ovarian failure in girls with TS further complicates the management of short stature. It remains to be determined what is the best age to begin treatment for pubertal induction and/or maintenance of puberty; the best compound, dose, or protocol to induce puberty. TS patients have increased mortality and morbidity due to cardiovascular (CV) complications and multiple risk factors for ischaemic heart disease, including hypertension, insulin resistance and dyslipidaemia. The CV phenotype can be better assessed through identification of surrogate risk markers and the relationship of these markers with TS - associated traits. There are very few comprehensive studies on the dynamics of arterial tree and the associations of these dynamics with influential factors in young TS patients. Deregulated signalling within the GH-IGF1 axis may extend beyond the realm of physical stature in TS, resulting in effects on the CV system and other organ systems. Although GH deficiency is associated with CV risk, and excess of GH is also associated with increased CV risk. Because TS patients receive supraphysiological doses of GH, there may be increased risks for CV complications, although retrospective studies failed to document such an association. There are still other unknown issues in the area of TS and CV issues such as the definitions of “abnormal” aortic diameters, high blood pressure. There is scarce data regarding how we can prevent catastrophic CV events in girls and women with TS. There is a call for prospective studies regarding the pathogenesis, diagnosis and prevention of CV disease in TS.TS patients usually have psychological problems related to self-confidence and self-respect due to the high burden of health-related issues they have to cope with at different stages of life. There remains controversy on how to support them to accept their differences and empower them to take an active role in their care. This e-book intends to provide insight on hot topics of debate in TS. The e-book is subdivided into small sections to describe the content of the articles such as growth, puberty, cardiovascular issues, metabolic issues, autoimmunity, cognitive and psychosocial issues to facilitate reading. We hope it will serve as a reference tool for clinicians and researchers who are involved in the diagnosis and management of females with TS.
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.
Download or read book Clinical Rounds in Endocrinology written by Anil Bhansali and published by Springer. This book was released on 2016-09-13 with total page 450 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Optic Disorders and Visual Field written by Ningli Wang and published by Springer. This book was released on 2019-03-01 with total page 604 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book discusses more than one hundred patients in which visual pathway is involved, and focuses on the role of visual field examination in the diagnosis of these diseases. It also highlights the application of concepts from the new interdiscipline, integration medicine as well as molecular biology and genetics in the analysis of the diseases. In this book, the commonly (typically) noticed changes in the visual field of patients with visual pathway disorders are mainly described in the chapter one titled as “Visual Field-related Anatomy of Visual Pathway” and chapter two titled as “Interpretation of Visual Field Test”, while the majority of the cases presented with "atypical" changes in visual field. At this point, the changes in the visual field could function as either a key to understand the disease, or a question mark which confuses the diagnosis. However, the process of pushing aside a fog around the diagnosis step by step helps the readers to gradually disclose the essence of the disease.
Download or read book Syndromes Rapid Recognition and Perioperative Implications written by Bruno Bissonnette and published by McGraw-Hill Education / Medical. This book was released on 2006-08-10 with total page 988 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Practical Clinical Endocrinology written by Peter Igaz and published by Springer Nature. This book was released on 2021-02-24 with total page 533 pages. Available in PDF, EPUB and Kindle. Book excerpt: This practical book aims to cover the whole scope of clinical endocrinology, including both common and selected rare but important diseases, with an emphasis on practical clinical management. A number of different questions and problems in clinical routine are discussed in this book in an unconventional format. Each topic begins with the presentation of a typical clinical case, and then the topic is approached in a question and answer format linked to the clinical case presented, highlighting the most important questions in diagnosis, differential diagnosis and therapy. Numerous figures and tables are included to help understanding. The book is chiefly intended for doctors in training (preparing for boarding exam in endocrinology or internal medicine), but also for established clinicians who want to broaden or refresh their skills. University students of medicine can also find this book interesting.
