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 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 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 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 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 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 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 Loving a Leaping Butterfly written by Debbie Browne and published by PCG Legacy. This book was released on 2012 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

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 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.

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 What Stars Are Made Of written by Sarah Allen and published by Farrar, Straus and Giroux (BYR). This book was released on 2020-03-31 with total page 178 pages. Available in PDF, EPUB and Kindle. Book excerpt: A Mighty Girl Best Book of 2020! From debut author Sarah Allen comes a pitch-perfect, heartwarming middle grade novel about growing up, finding yourself, and loving people with everything you’re made of. Twelve-year-old Libby Monroe is great at science, being optimistic, and talking to her famous, accomplished friends (okay, maybe that last one is only in her head). She’s not great at playing piano, sitting still, or figuring out how to say the right thing at the right time in real life. Libby was born with Turner Syndrome, and that makes some things hard. But she has lots of people who love her, and that makes her pretty lucky. When her big sister Nonny tells her she’s pregnant, Libby is thrilled—but worried. Nonny and her husband are in a financial black hole, and Libby knows that babies aren’t always born healthy. So she strikes a deal with the universe: She’ll enter a contest with a project about Cecilia Payne, the first person to discover what stars are made of. If she wins the grand prize and gives all that money to Nonny’s family, then the baby will be perfect. Does she have what it takes to care for the sister that has always cared for her? And what will it take for the universe to notice?

Download or read book Fertility Preservation in Oncological and Non Oncological Diseases written by Michael von Wolff and published by Springer Nature. This book was released on 2020-06-30 with total page 279 pages. Available in PDF, EPUB and Kindle. Book excerpt: This practical book focuses on the most recent advances in fertility preservation in oncological and non-oncological patients. It presents the steps that need to be followed prior to treatment for successful fertility preservation, and describes in detail the medical conditions requiring fertility preservation, including precise information on the risk of fertility loss, prognosis, risk of ovarian metastasis and other possible risks. The book also provides information on how to perform the preservation techniques (success rates, risks, etc.) and on what to do after the treatment (in cases of bleeding during chemotherapy, menopause, wish to conceive, etc.). Written by experts in the field, including members of the globally known network FertiPROTEKT and leading oncologists and specialists, this practical and easy-to-use book is a valuable resource for all clinicians involved in fertility preservation for patients with specific diseases

Download or read book Eponyms and Names in Obstetrics and Gynaecology written by Thomas F. Baskett and published by Cambridge University Press. This book was released on 2019-01-24 with total page 545 pages. Available in PDF, EPUB and Kindle. Book excerpt: Few specialties have a longer or richer eponymous background than obstetrics and gynaecology. Eponyms add a human side to an increasingly technical profession and represent the historic tradition and language of the speciality. This collection aims to perpetuate the names and contributions of pioneers and offer introductory profiles to the founders in whose steps we follow. This third edition includes 26 new entries, as well as expanded detail, illustration and quotation for existing entries. Biographical data and historical and medical context are discussed for each of the 391 names, with reference to 34 countries, reflecting the field's far reaching origins. More than 1700 original references feature, alongside an extensive bibliography of more than 2500 linked references to assist readers searching for more detailed information. This is a volume for physicians, midwives, medical historians, medical ethicists and all those interested in the history and evolution of obstetrical and gynaecological treatment.

Download or read book Diagnosis Management and Modeling of Neurodevelopmental Disorders written by Colin R Martin and published by Academic Press. This book was released on 2021-05-29 with total page 628 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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

Download or read book Dermatoglyphics in Medical Disorders written by B. Schaumann and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 265 pages. Available in PDF, EPUB and Kindle. Book excerpt: The skin on the fingertips and palmar and plantar surfaces of man is not smooth. It is grooved by curious ridges, which form a variety of configurations. These ridge configurations have attracted the at tention of laymen for millenia. They have also evoked the serious interest of scientists for more than three centuries. The anatomist Bidloo provided a description of ridge detail in the seventeenth cen tury. Since then, additional information has been added by anthro pologists, biologists, and geneticists. For the last century, the fact that each individual's ridge configurations are unique has been uti lized as a means of personal identification especially by law enforce ment officials. Widespread medical interest in epidermal ridges de veloped only in the last several decades when it became apparent that many patients with chromosomal aberrations had unusual ridge formations. Inspection of skin ridges, therefore, promised to provide a simple, inexpensive means for determining whether a given patient had a particular chromosomal defect. However, the promise was only partially fulfilled because of the inherent variability of skin ridge configurations. It was possible to draw conclusions about ridge ab normalities in groups of patients but not always in a given individual. Patients and clinicians became somewhat disenchanted with the clinical value of studying ridges.

Download or read book American Academy of Pediatrics Textbook of Pediatric Care written by Jane Meschan Foy and published by . This book was released on 2016-03-31 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: The definitive manual of pediatric medicine - completely updated with 75 new chapters and e-book access.